Name

HAO1 Gene

hydroxyacid oxidase (glycolate oxidase) 1

This gene is one of three related genes that have 2-hydroxyacid oxidase activity yet differ in encoded protein amino acid sequence, tissue expression and substrate preference. Subcellular location of the encoded protein is the peroxisome. Specifically, this gene is expressed primarily in liver and pancreas and the encoded protein is most active on glycolate, a two-carbon substrate. The protein is also active on 2-hydroxy fatty acids. The transcript detected at high levels in pancreas may represent an alternatively spliced form or the use of a multiple near-consensus upstream polyadenylation site. [provided by RefSeq, Jul 2008]

PEX11G Gene

peroxisomal biogenesis factor 11 gamma

The protein encoded by this gene is a member of the PEX11 family. This family is reported to regulate the number and size of peroxisomes in evolutionarily distant organisms. The protein encoded by this gene may induce clustering of peroxisomes. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]

PEX5L Gene

peroxisomal biogenesis factor 5-like

Enables peroxisome matrix targeting signal-1 binding activity and small GTPase binding activity. Predicted to be involved in protein import into peroxisome matrix, docking. Predicted to act upstream of or within maintenance of protein location and regulation of membrane potential. Located in cytosol. Part of receptor complex. [provided by Alliance of Genome Resources, Mar 2025]

PXMP2 Gene

peroxisomal membrane protein 2, 22kDa

Located in peroxisomal membrane. Part of protein-containing complex. [provided by Alliance of Genome Resources, Mar 2025]

PXMP4 Gene

peroxisomal membrane protein 4, 24kDa

Predicted to act upstream of or within ether lipid metabolic process. Located in peroxisomal membrane. [provided by Alliance of Genome Resources, Mar 2025]

PXT1 Gene

peroxisomal, testis specific 1

Predicted to be involved in positive regulation of apoptotic process and spermatogenesis. Predicted to be active in nucleus and peroxisome. [provided by Alliance of Genome Resources, Mar 2025]

PEX11A Gene

peroxisomal biogenesis factor 11 alpha

This gene is a member of the PEX11 family, which is composed of membrane elongation factors involved in regulation of peroxisome maintenance and proliferation. This gene product interacts with peroxisomal membrane protein 19 and may respond to outside stimuli to increase peroxisome abundance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]

PEX11B Gene

peroxisomal biogenesis factor 11 beta

The protein encoded by this gene facilitates peroxisomal proliferation and interacts with PEX19. The encoded protein is found in the peroxisomal membrane. Several transcript variants, some protein-coding and some not protein-coding, have been found for this gene. [provided by RefSeq, Dec 2012]

LONP2 Gene

lon peptidase 2, peroxisomal

In human, peroxisomes function primarily to catalyze fatty acid beta-oxidation and, as a by-product, produce hydrogen peroxide and superoxide. The protein encoded by this gene is an ATP-dependent protease that likely plays a role in maintaining overall peroxisome homeostasis as well as proteolytically degrading peroxisomal proteins damaged by oxidation. The protein has an N-terminal Lon N substrate recognition domain, an ATPase domain, a proteolytic domain, and, in some isoforms, a C-terminal peroxisome targeting sequence. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2017]

PEX26 Gene

peroxisomal biogenesis factor 26

This gene belongs to the peroxin-26 gene family. It is probably required for protein import into peroxisomes. It anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Defects in this gene are the cause of peroxisome biogenesis disorder complementation group 8 (PBD-CG8). PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2010]

LOC100131465 Gene

peroxisomal biogenesis factor 5 pseudogene

PEX19 Gene

peroxisomal biogenesis factor 19

This gene is necessary for early peroxisomal biogenesis. It acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. These disorders have at least 14 complementation groups, with more than one phenotype being observed for some complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS), as well as peroxisome biogenesis disorder complementation group 14 (PBD-CG14), which is also known as PBD-CGJ. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]

PEX10 Gene

peroxisomal biogenesis factor 10

This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

PEX13 Gene

peroxisomal biogenesis factor 13

This gene encodes a peroxisomal membrane protein that binds the type 1 peroxisomal targeting signal receptor via a SH3 domain located in the cytoplasm. Mutations and deficiencies in peroxisomal protein importing and peroxisome assembly lead to peroxisomal biogenesis disorders, an example of which is Zellweger syndrome. [provided by RefSeq, Oct 2008]

PEX14 Gene

peroxisomal biogenesis factor 14

This gene encodes an essential component of the peroxisomal import machinery. The protein is integrated into peroxisome membranes with its C-terminus exposed to the cytosol, and interacts with the cytosolic receptor for proteins containing a PTS1 peroxisomal targeting signal. The protein also functions as a transcriptional corepressor and interacts with a histone deacetylase. A mutation in this gene results in one form of Zellweger syndrome. [provided by RefSeq, Jul 2008]

PEX16 Gene

peroxisomal biogenesis factor 16

The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described. [provided by RefSeq, Jul 2008]

PEX12P1 Gene

peroxisomal biogenesis factor 12 pseudogene 1

PEX1 Gene

peroxisomal biogenesis factor 1

This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]

PEX3 Gene

peroxisomal biogenesis factor 3

The product of this gene is involved in peroxisome biosynthesis and integrity. It assembles membrane vesicles before the matrix proteins are translocated. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]

PEX2 Gene

peroxisomal biogenesis factor 2

This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

PEX5 Gene

peroxisomal biogenesis factor 5

The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]

PEX7 Gene

peroxisomal biogenesis factor 7

This gene encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multiple defects in peroxisome function. There are at least 14 complementation groups for PBDs, with more than one phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene have been associated with PBD complementation group 11 (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1 (RCDP1), and Refsum disease (RD). [provided by RefSeq, Oct 2008]

PEX6 Gene

peroxisomal biogenesis factor 6

This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

SLC25A17 Gene

solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17

This gene encodes a peroxisomal membrane protein that belongs to the family of mitochondrial solute carriers. It is expressed in the liver, and is likely involved in transport. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

PEX12 Gene

peroxisomal biogenesis factor 12

This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]

PEX39 Gene

peroxisomal biogenesis factor 39

NAPEPLD Gene

N-acyl phosphatidylethanolamine phospholipase D

NAPEPLD is a phospholipase D type enzyme that catalyzes the release of N-acylethanolamine (NAE) from N-acyl-phosphatidylethanolamine (NAPE) in the second step of the biosynthesis of N-acylethanolamine (Okamoto et al., 2004 [PubMed 14634025]).[supplied by OMIM, Oct 2008]

OARD1 Gene

O-acyl-ADP-ribose deacylase 1

The protein encoded by this gene is a deacylase that can convert O-acetyl-ADP-ribose to ADP-ribose and acetate, O-propionyl-ADP-ribose to ADP-ribose and propionate, and O-butyryl-ADP-ribose to ADP-ribose and butyrate. The ADP-ribose product is able to inhibit these reactions through a competitive feedback loop. [provided by RefSeq, Jul 2016]

LOC101060199 Gene

acyl-coenzyme A synthetase ACSM6, mitochondrial-like

LOC440792 Gene

proline dehydrogenase (oxidase) 1 pseudogene

COX4I1P1 Gene

cytochrome c oxidase subunit IV isoform 1 pseudogene 1

COX4I1P2 Gene

cytochrome c oxidase subunit IV isoform 1 pseudogene 2

UOX Gene

urate oxidase, pseudogene

Urate oxidase is an enzyme that catalyzes the oxidation of uric acid to allantoin. This gene has been inactivated by mutation and is nonfunctional in humans and some other primates. [provided by RefSeq, Jul 2008]

AOC2 Gene

amine oxidase, copper containing 2 (retina-specific)

Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes and ammonia in the presence of copper and quinone cofactor. This gene shows high sequence similarity to copper amine oxidases from various species ranging from bacteria to mammals. The protein contains several conserved motifs including the active site of amine oxidases and the histidine residues that likely bind copper. It may be a critical modulator of signal transmission in retina, possibly by degrading the biogenic amines dopamine, histamine, and putrescine. This gene may be a candidate gene for hereditary ocular diseases. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]

LOC100506672 Gene

cytochrome c oxidase subunit VIIc pseudogene

COX6B1P7 Gene

cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 7

COX6B1P5 Gene

cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 5

DAOA Gene

D-amino acid oxidase activator

This gene encodes a protein that may function as an activator of D-amino acid oxidase, which degrades the gliotransmitter D-serine, a potent activator of N-methyl-D-aspartate (NMDA) type glutamate receptors. Studies also suggest that one encoded isoform may play a role in mitochondrial function and dendritic arborization. Polymorphisms in this gene have been implicated in susceptibility to schizophrenia and bipolar affective disorder. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Mar 2011]

COX5A Gene

cytochrome c oxidase subunit Va

Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer of proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit Va of the human mitochondrial respiratory chain enzyme. A pseudogene COX5AP1 has been found in chromosome 14q22. [provided by RefSeq, Jul 2008]

COX5B Gene

cytochrome c oxidase subunit Vb

Cytochrome C oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer and proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit Vb of the human mitochondrial respiratory chain enzyme. [provided by RefSeq, Jul 2008]

COX7A2L Gene

cytochrome c oxidase subunit VIIa polypeptide 2 like

Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein similar to polypeptides 1 and 2 of subunit VIIa in the C-terminal region, and also highly similar to the mouse Sig81 protein sequence. This gene is expressed in all tissues, and upregulated in a breast cancer cell line after estrogen treatment. It is possible that this gene represents a regulatory subunit of COX and mediates the higher level of energy production in target cells by estrogen. Several transcript variants, some protein-coding and others non-protein coding, have been found for this gene. [provided by RefSeq, Jan 2016]

LOC692246 Gene

cytochrome c oxidase assembly factor 1 homolog (S. cerevisiae) pseudogene

SCO1 Gene

SCO1 cytochrome c oxidase assembly protein

Mammalian cytochrome c oxidase (COX) catalyzes the transfer of reducing equivalents from cytochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane. In yeast, 2 related COX assembly genes, SCO1 and SCO2 (synthesis of cytochrome c oxidase), enable subunits 1 and 2 to be incorporated into the holoprotein. This gene is the human homolog to the yeast SCO1 gene. [provided by RefSeq, Jul 2008]

LOC100287067 Gene

mitochondrially encoded cytochrome c oxidase I pseudogene

MAOB Gene

monoamine oxidase B

The protein encoded by this gene belongs to the flavin monoamine oxidase family. It is a enzyme located in the mitochondrial outer membrane. It catalyzes the oxidative deamination of biogenic and xenobiotic amines and plays an important role in the metabolism of neuroactive and vasoactive amines in the central nervous sysytem and peripheral tissues. This protein preferentially degrades benzylamine and phenylethylamine. [provided by RefSeq, Jul 2008]

MAOA Gene

monoamine oxidase A

This gene is one of two neighboring gene family members that encode mitochondrial enzymes which catalyze the oxidative deamination of amines, such as dopamine, norepinephrine, and serotonin. Mutation of this gene results in Brunner syndrome. This gene has also been associated with a variety of other psychiatric disorders, including antisocial behavior. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2012]

COX6CP4 Gene

cytochrome c oxidase subunit VIc pseudogene 4

TACO1 Gene

translational activator of mitochondrially encoded cytochrome c oxidase I

This gene encodes a mitochondrial protein that function as a translational activator of mitochondrially-encoded cytochrome c oxidase 1. Mutations in this gene are associated with Leigh syndrome.[provided by RefSeq, Mar 2010]

COX7B2 Gene

cytochrome c oxidase subunit VIIb2

Predicted to be involved in mitochondrial electron transport, cytochrome c to oxygen. Predicted to act upstream of or within spermatogenesis. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

COX6C Gene

cytochrome c oxidase subunit VIc

Cytochrome c oxidase, the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes subunit VIc, which has 77% amino acid sequence identity with mouse subunit VIc. This gene is up-regulated in prostate cancer cells. A pseudogene has been found on chromosomes 16p12. [provided by RefSeq, Jul 2010]

PNPO Gene

pyridoxamine 5'-phosphate oxidase

The enzyme encoded by this gene catalyzes the terminal, rate-limiting step in the synthesis of pyridoxal 5'-phosphate, also known as vitamin B6. Vitamin B6 is a required co-factor for enzymes involved in both homocysteine metabolism and synthesis of neurotransmitters such as catecholamine. Mutations in this gene result in pyridoxamine 5'-phosphate oxidase (PNPO) deficiency, a form of neonatal epileptic encephalopathy. [provided by RefSeq, Oct 2008]

COX6A1 Gene

cytochrome c oxidase subunit VIa polypeptide 1

Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in the electron transfer and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 1 (liver isoform) of subunit VIa, and polypeptide 1 is found in all non-muscle tissues. Polypeptide 2 (heart/muscle isoform) of subunit VIa is encoded by a different gene, and is present only in striated muscles. These two polypeptides share 66% amino acid sequence identity. It has been reported that there may be several pseudogenes on chromosomes 1, 6, 7q21, 7q31-32 and 12. However, only one pseudogene (COX6A1P) on chromosome 1p31.1 has been documented. [provided by RefSeq, Jul 2008]

COX6A2 Gene

cytochrome c oxidase subunit VIa polypeptide 2

Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (heart/muscle isoform) of subunit VIa, and polypeptide 2 is present only in striated muscles. Polypeptide 1 (liver isoform) of subunit VIa is encoded by a different gene, and is found in all non-muscle tissues. These two polypeptides share 66% amino acid sequence identity. [provided by RefSeq, Jul 2008]

OXA1L Gene

oxidase (cytochrome c) assembly 1-like

This gene encodes an evolutionarily conserved protein that is localized to the inner mitochondrial membrane. The encoded protein is essential for the translocation of the N-terminal tail of subunit 2 of cytochrome c oxidase, and is involved in the assembly of the cytochrome c oxidase and ATPase complexes of the mitochondrial respiratory chain. [provided by RefSeq, Jul 2016]

COX19 Gene

COX19 cytochrome c oxidase assembly factor

COX19 encodes a cytochrome c oxidase (COX)-assembly protein. The S. cerevisiae Cox19 protein may play a role in metal transport to the mitochondrial intermembrane space and assembly of complex IV of the mitochondrial respiratory chain (Sacconi et al., 2005 [PubMed 16212937]).[supplied by OMIM, Mar 2008]

DUOX1 Gene

dual oxidase 1

The protein encoded by this gene is a glycoprotein and a member of the NADPH oxidase family. The synthesis of thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells. This complex contains an iodide transporter, thyroperoxidase, and a peroxide generating system that includes proteins encoded by this gene and the similar DUOX2 gene. This protein is known as dual oxidase because it has both a peroxidase homology domain and a gp91phox domain. This protein generates hydrogen peroxide and thereby plays a role in the activity of thyroid peroxidase, lactoperoxidase, and in lactoperoxidase-mediated antimicrobial defense at mucosal surfaces. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2012]

DUOX2 Gene

dual oxidase 2

The protein encoded by this gene is a glycoprotein and a member of the NADPH oxidase family. The synthesis of thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells. This complex contains an iodide transporter, thyroperoxidase, and a peroxide generating system that includes this encoded protein and DUOX1. This protein is known as dual oxidase because it has both a peroxidase homology domain and a gp91phox domain. [provided by RefSeq, Jul 2008]

NOX1 Gene

NADPH oxidase 1

This gene encodes a member of the NADPH oxidase family of enzymes responsible for the catalytic one-electron transfer of oxygen to generate superoxide or hydrogen peroxide. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]

NOX3 Gene

NADPH oxidase 3

This gene encodes a member of the NOX family of NADPH oxidases. These enzymes have the capacity to generate superoxide and other reactive oxygen species (ROS) and transport electrons across the plasma membrane. The ROS generated by family members have been implicated in numerous biological functions including host defense, posttranlational processing of proteins, cellular signaling, regulation of gene expression, and cell differentiation. The protein encoded by this gene is expressed predominantly in the inner ear and is involved in the biogenesis of otoconia/otolith, which are crystalline structures of the inner ear involved in the perception of gravity.[provided by RefSeq, May 2009]

NOX5 Gene

NADPH oxidase, EF-hand calcium binding domain 5

Enables proton channel activity and superoxide-generating NAD(P)H oxidase activity. Involved in several processes, including endothelial cell proliferation; proton transmembrane transport; and superoxide anion generation. Located in endoplasmic reticulum and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

NOX4 Gene

NADPH oxidase 4

This gene encodes a member of the NOX-family of enzymes that functions as the catalytic subunit the NADPH oxidase complex. The encoded protein is localized to non-phagocytic cells where it acts as an oxygen sensor and catalyzes the reduction of molecular oxygen to various reactive oxygen species (ROS). The ROS generated by this protein have been implicated in numerous biological functions including signal transduction, cell differentiation and tumor cell growth. A pseudogene has been identified on the other arm of chromosome 11. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009]

QSOX2 Gene

quiescin Q6 sulfhydryl oxidase 2

QSOX2 is a member of the sulfhydryl oxidase/quiescin-6 (Q6) family (QSOX1; MIM 603120) that regulates the sensitization of neuroblastoma cells for IFN-gamma (IFNG; MIM 147570)-induced cell death (Wittke et al., 2003 [PubMed 14633699]).[supplied by OMIM, Jun 2009]

RNLS Gene

renalase, FAD-dependent amine oxidase

Enables several functions, including NADH binding activity; epinephrine binding activity; and monoamine oxidase activity. Involved in negative regulation of blood pressure and negative regulation of heart rate. Located in extracellular region. Implicated in essential hypertension and hypertension. Biomarker of end stage renal disease. [provided by Alliance of Genome Resources, Mar 2025]

PCYOX1L Gene

prenylcysteine oxidase 1 like

Predicted to enable prenylcysteine oxidase activity. Predicted to be involved in neutrophil-mediated killing of bacterium and prenylated protein catabolic process. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

COX5BP8 Gene

cytochrome c oxidase subunit Vb pseudogene 8

COX5BP4 Gene

cytochrome c oxidase subunit Vb pseudogene 4

COX5BP5 Gene

cytochrome c oxidase subunit Vb pseudogene 5

COX5BP6 Gene

cytochrome c oxidase subunit Vb pseudogene 6

COX5BP7 Gene

cytochrome c oxidase subunit Vb pseudogene 7

COX5BP1 Gene

cytochrome c oxidase subunit Vb pseudogene 1

COX5BP2 Gene

cytochrome c oxidase subunit Vb pseudogene 2

COX5BP3 Gene

cytochrome c oxidase subunit Vb pseudogene 3

LOC100507586 Gene

cytochrome c oxidase subunit VIIb pseudogene

SC4MOP Gene

sterol-C4-methyl oxidase pseudogene

COX17P1 Gene

COX17 cytochrome c oxidase copper chaperone pseudogene 1

QSOX1 Gene

quiescin Q6 sulfhydryl oxidase 1

This gene encodes a protein that contains domains of thioredoxin and ERV1, members of two long-standing gene families. The gene expression is induced as fibroblasts begin to exit the proliferative cycle and enter quiescence, suggesting that this gene plays an important role in growth regulation. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

COX20P2 Gene

COX20 cytochrome c oxidase assembly factor pseudogene 2

COX20P1 Gene

COX20 cytochrome c oxidase assembly factor pseudogene 1

PAOX Gene

polyamine oxidase (exo-N4-amino)

Enables polyamine oxidase activity. Involved in polyamine metabolic process and positive regulation of spermidine biosynthetic process. Predicted to be located in cytosol and peroxisomal matrix. Predicted to be active in cytoplasm. Implicated in lung non-small cell carcinoma. [provided by Alliance of Genome Resources, Mar 2025]

AOC3 Gene

amine oxidase, copper containing 3

This gene encodes a member of the semicarbazide-sensitive amine oxidase family. Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes in the presence of copper and quinone cofactor. The encoded protein is localized to the cell surface, has adhesive properties as well as monoamine oxidase activity, and may be involved in leukocyte trafficking. Alterations in levels of the encoded protein may be associated with many diseases, including diabetes mellitus. A pseudogene of this gene has been described and is located approximately 9-kb downstream on the same chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]

SMOX Gene

spermine oxidase

Polyamines are ubiquitous polycationic alkylamines which include spermine, spermidine, putrescine, and agmatine. These molecules participate in a broad range of cellular functions which include cell cycle modulation, scavenging reactive oxygen species, and the control of gene expression. These molecules also play important roles in neurotransmission through their regulation of cell-surface receptor activity, involvement in intracellular signalling pathways, and their putative roles as neurotransmitters. This gene encodes an FAD-containing enzyme that catalyzes the oxidation of spermine to spermadine and secondarily produces hydrogen peroxide. Multiple transcript variants encoding different isoenzymes have been identified for this gene, some of which have failed to demonstrate significant oxidase activity on natural polyamine substrates. The characterized isoenzymes have distinctive biochemical characteristics and substrate specificities, suggesting the existence of additional levels of complexity in polyamine catabolism. [provided by RefSeq, Jul 2012]

LOC100421855 Gene

SCO1 cytochrome c oxidase assembly protein pseudogene

DUOXA1 Gene

dual oxidase maturation factor 1

Dual oxidases DUOX1 and DUOX2 are NADPH oxidases which are involved in hydrogen peroxide production necessary for thyroid hormonogenesis. They form a heterodimer with specific maturation factors DUOXA1 and DUOXA2, respectively, which is essential for the maturation and function of the DUOX enzyme complexes. This gene encodes the DUOX1 activator or maturation factor DUOXA1. Rat studies identified a bidirectional promoter which controls the transcription of the DUOX1 and DUOXA1 genes. This protein is cotransported to the cell surface when coexpressed with DUOX1 and is retained in the endoplasmic reticulum when expressed without DUOX1 protein. The expression of this gene or the DUOX1 gene is not suppressed by thyroglobulin (Tg), a macromolecular precursor in thyroid hormone synthesis, while the expression of the DUOX2 and DUOXA2 are significantly suppressed by the Tg. This protein is also a p53-regulated neurogenic factor involved in p53 dependent neuronal differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]

DUOXA2 Gene

dual oxidase maturation factor 2

This gene encodes an endoplasmic reticulum protein that is necessary for proper cellular localization and maturation of functional dual oxidase 2. Mutations in this gene have been associated with thyroid dyshormonogenesis 5.[provided by RefSeq, Feb 2010]

AOC4P Gene

amine oxidase, copper containing 4, pseudogene

CPOX Gene

coproporphyrinogen oxidase

The protein encoded by this gene is the sixth enzyme of the heme biosynthetic pathway. The encoded enzyme is soluble and found in the intermembrane space of mitochondria. This enzyme catalyzes the stepwise oxidative decarboxylation of coproporphyrinogen III to protoporphyrinogen IX, a precursor of heme. Defects in this gene are a cause of hereditary coproporphyria (HCP).[provided by RefSeq, Oct 2009]

COX14 Gene

COX14 cytochrome c oxidase assembly factor

This gene encodes a small single-pass transmembrane protein that localizes to mitochondria. This protein may play a role in coordinating the early steps of cytochrome c oxidase (COX; also known as complex IV) subunit assembly and, in particular, the synthesis and assembly of the COX I subunit of the holoenzyme. Mutations in this gene have been associated with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

AOC1 Gene

amine oxidase, copper containing 1

This gene encodes a metal-binding membrane glycoprotein that oxidatively deaminates putrescine, histamine, and related compounds. The encoded protein is inhibited by amiloride, a diuretic that acts by closing epithelial sodium ion channels. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]

LOXL1 Gene

lysyl oxidase-like 1

This gene encodes a member of the lysyl oxidase family of proteins. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyzes the first step in the formation of crosslinks in collagen and elastin. The encoded preproprotein is proteolytically processed to generate the mature enzyme. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. Mutations in this gene are associated with exfoliation syndrome. [provided by RefSeq, Jan 2016]

LOXL2 Gene

lysyl oxidase-like 2

This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. [provided by RefSeq, Jul 2008]

LOXL3 Gene

lysyl oxidase-like 3

This gene encodes a lysyl oxidase, which likely functions as an amine oxidase and plays a role in the formation of crosslinks in collagens and elastin. Deletion of the related gene in mouse causes neonatal mortality with cleft palate, spine deformity, and defects in collagen organization. A mutation in this gene was found in a family with Stickler syndrome. [provided by RefSeq, Sep 2016]

LOXL4 Gene

lysyl oxidase-like 4

This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. [provided by RefSeq, Jul 2008]

COX7BP2 Gene

cytochrome c oxidase subunit VIIb pseudogene 2

COX7BP1 Gene

cytochrome c oxidase subunit VIIb pseudogene 1

COX7A2P2 Gene

cytochrome c oxidase subunit VIIa polypeptide 2 (liver) pseudogene 2

Predicted to be involved in mitochondrial respirasome assembly and regulation of oxidative phosphorylation. Predicted to be located in mitochondrial inner membrane. Predicted to be part of respiratory chain complex. [provided by Alliance of Genome Resources, Mar 2025]

LOC100288385 Gene

cytochrome c oxidase subunit VIIa polypeptide 2 like pseudogene

LOC100289479 Gene

cytochrome c oxidase subunit VIIb pseudogene

PIPOX Gene

pipecolic acid oxidase

Enables L-pipecolate oxidase activity and sarcosine oxidase activity. Involved in L-lysine catabolic process to acetyl-CoA via L-pipecolate. Located in peroxisome. [provided by Alliance of Genome Resources, Mar 2025]

COX6CP5 Gene

cytochrome c oxidase subunit VIc pseudogene 5

COX6CP6 Gene

cytochrome c oxidase subunit VIc pseudogene 6

AOX1 Gene

aldehyde oxidase 1

Aldehyde oxidase produces hydrogen peroxide and, under certain conditions, can catalyze the formation of superoxide. Aldehyde oxidase is a candidate gene for amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008]

COX18 Gene

COX18 cytochrome c oxidase assembly factor

This gene encodes a cytochrome c oxidase assembly protein. The encoded protein is essential for integral membrane protein insertion into the mitochondrial inner membrane. It is also required for cytochrome c oxidase assembly and activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

COX10 Gene

COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor

Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes heme A:farnesyltransferase, which is not a structural subunit but required for the expression of functional COX and functions in the maturation of the heme A prosthetic group of COX. This protein is predicted to contain 7-9 transmembrane domains localized in the mitochondrial inner membrane. A gene mutation, which results in the substitution of a lysine for an asparagine (N204K), is identified to be responsible for cytochrome c oxidase deficiency. In addition, this gene is disrupted in patients with CMT1A (Charcot-Marie-Tooth type 1A) duplication and with HNPP (hereditary neuropathy with liability to pressure palsies) deletion. [provided by RefSeq, Jul 2008]

COX11 Gene

COX11 cytochrome c oxidase copper chaperone

Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be a heme A biosynthetic enzyme involved in COX formation, according to the yeast mutant studies. However, the studies in Rhodobacter sphaeroides suggest that this gene is not required for heme A biosynthesis, but required for stable formation of the Cu(B) and magnesium centers of COX. This human protein is predicted to contain a transmembrane domain localized in the mitochondrial inner membrane. Multiple transcript variants encoding different isoforms have been found for this gene. A related pseudogene has been found on chromosome 6. [provided by RefSeq, Jun 2009]

COX15 Gene

cytochrome c oxidase assembly homolog 15 (yeast)

Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be essential for the biogenesis of COX formation and may function in the hydroxylation of heme O, according to the yeast mutant studies. This protein is predicted to contain 5 transmembrane domains localized in the mitochondrial inner membrane. Alternative splicing of this gene generates two transcript variants diverging in the 3' region. [provided by RefSeq, Jul 2008]

COX16 Gene

COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)

Involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrial inner membrane. Implicated in mitochondrial complex IV deficiency nuclear type 22. [provided by Alliance of Genome Resources, Mar 2025]

COX17 Gene

COX17 cytochrome c oxidase copper chaperone

Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be involved in the recruitment of copper to mitochondria for incorporation into the COX apoenzyme. This protein shares 92% amino acid sequence identity with mouse and rat Cox17 proteins. This gene is no longer considered to be a candidate gene for COX deficiency. A pseudogene COX17P has been found on chromosome 13. [provided by RefSeq, Jul 2008]

PRODH Gene

proline dehydrogenase (oxidase) 1

This gene encodes a mitochondrial protein that catalyzes the first step in proline degradation. Mutations in this gene are associated with hyperprolinemia type 1 and susceptibility to schizophrenia 4 (SCZD4). This gene is located on chromosome 22q11.21, a region which has also been associated with the contiguous gene deletion syndromes, DiGeorge and CATCH22. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010]

COX7CP1 Gene

cytochrome c oxidase subunit VIIc pseudogene 1

LOC100289404 Gene

mitochondrially encoded cytochrome c oxidase II pseudogene

COX6A1P2 Gene

cytochrome c oxidase subunit VIa polypeptide 1 pseudogene 2

COX6A1P1 Gene

cytochrome c oxidase subunit VIa polypeptide 1 pseudogene 1

COA5 Gene

cytochrome c oxidase assembly factor 5

This gene encodes an ortholog of yeast Pet191, which in yeast is a subunit of a large oligomeric complex associated with the mitochondrial inner membrane, and required for the assembly of the cytochrome c oxidase complex. Mutations in this gene are associated with mitochondrial complex IV deficiency, a disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to a severe disease affecting several tissues and organs. [provided by RefSeq, Dec 2011]

COA4 Gene

cytochrome c oxidase assembly factor 4 homolog (S. cerevisiae)

Predicted to be involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

COA7 Gene

cytochrome c oxidase assembly factor 7 (putative)

Involved in respiratory chain complex IV assembly. Located in mitochondrion and nucleoplasm. Is active in mitochondrial intermembrane space. Implicated in spinocerebellar ataxia with axonal neuropathy type 3. [provided by Alliance of Genome Resources, Mar 2025]

COA6 Gene

cytochrome c oxidase assembly factor 6

This gene encodes a member of the cytochrome c oxidase subunit 6B family. The encoded protein associates with cytochrome c oxidase may act has an cytochrome c oxidase mitochondrial respiratory complex VI assembly factor. Mutations in this gene may be associated with fatal infantile cardiomyopathy. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]

COA1 Gene

cytochrome c oxidase assembly factor 1 homolog (S. cerevisiae)

Involved in mitochondrial cytochrome c oxidase assembly and mitochondrial respiratory chain complex I assembly. Located in cytosol and mitochondrial inner membrane. [provided by Alliance of Genome Resources, Mar 2025]

COA3 Gene

cytochrome c oxidase assembly factor 3

This gene encodes a member of the cytochrome c oxidase assembly factor family. Studies of a related gene in fly suggest that the encoded protein is localized to mitochondria and is essential for cytochrome c oxidase function. [provided by RefSeq, Nov 2012]

GULOP Gene

gulonolactone (L-) oxidase, pseudogene

This gene is nonfunctional in humans and other primates. In most mammalian species the corresponding gene encodes L-gulono-gamma-lactone oxidase which catalyzes the last step of ascorbic acid biosynthesis. The human gene is a remnant that lacks five of twelve exons found in functional rodent genes. The loss of enzyme activity results in hypoascorbemia or the inability to synthesize vitamin C. [provided by RefSeq, Nov 2010]

LOC729960 Gene

NADPH oxidase 4 pseudogene

AOX2P Gene

aldehyde oxidase 2 pseudogene

MT-CO1 Gene

cytochrome c oxidase subunit I

Contributes to cytochrome-c oxidase activity. Predicted to be involved in aerobic respiration; positive regulation of vasoconstriction; and respiratory electron transport chain. Located in mitochondrion. Part of mitochondrial membrane and respiratory chain complex IV. [provided by Alliance of Genome Resources, Mar 2025]

MT-CO2 Gene

cytochrome c oxidase subunit II

Contributes to cytochrome-c oxidase activity. Predicted to be involved in mitochondrial electron transport, cytochrome c to oxygen and positive regulation of vasoconstriction. Located in mitochondrial inner membrane. Part of mitochondrial membrane and respiratory chain complex IV. Biomarker of Huntington's disease and stomach cancer. [provided by Alliance of Genome Resources, Mar 2025]

MT-CO3 Gene

cytochrome c oxidase III

Predicted to contribute to cytochrome-c oxidase activity. Involved in respiratory chain complex IV assembly. Located in mitochondrion. Part of mitochondrial membrane and respiratory chain complex IV. Implicated in MELAS syndrome. [provided by Alliance of Genome Resources, Mar 2025]

LOC100288010 Gene

cytochrome c oxidase subunit VIIa polypeptide 2 like pseudogene

DDO Gene

D-aspartate oxidase

The protein encoded by this gene is a peroxisomal flavoprotein that catalyzes the oxidative deamination of D-aspartate and N-methyl D-aspartate. Flavin adenine dinucleotide or 6-hydroxyflavin adenine dinucleotide can serve as the cofactor in this reaction. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2019]

COX8BP Gene

cytochrome c oxidase subunit VIIIB, pseudogene

Cytochrome c oxidase is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. In addition a number of cytochrome c oxidase subunit pseudogenes have been found. This gene represents a subunit which has been inactivated by mutation and is nonfunctional in humans. [provided by RefSeq, Jul 2008]

LOC100419911 Gene

prenylcysteine oxidase 1 pseudogene

NOXO1 Gene

NADPH oxidase organizer 1

This gene encodes an NADPH oxidase (NOX) organizer, which positively regulates NOX1 and NOX3. The protein contains a PX domain and two SH3 domains. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012]

PRODH2 Gene

proline dehydrogenase (oxidase) 2

The protein encoded by this gene catalyzes the first step in the catabolism of trans-4-hydroxy-L-proline, an amino acid derivative obtained through food intake and collagen turnover. One of the downstream products of this catabolism is glyoxylate, which in people with disorders of glyoxalate metabolism can lead to an increase in oxalate levels and the formation of calcium-oxalate kidney stones. Therefore, this gene may serve as a therapeutic target against primary hyperoxalurias (PH). This gene is similar to proline dehydrogenase (oxidase) 1, a mitochondrial enzyme that catalyzes the first step in proline catabolism. [provided by RefSeq, Jan 2017]

COX20 Gene

COX20 cytochrome c oxidase assembly factor

This gene encodes a protein that plays a role in the assembly of cytochrome C oxidase, an important component of the respiratory pathway. It contains two transmembrane helices and localizes to the mitochondrial membrane. Mutations in this gene can cause mitochondrial complex IV deficiency, which results in ataxia and muscle hypotonia. There are multiple pseudogenes for this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

LOC102724175 Gene

membrane primary amine oxidase-like

SCO2 Gene

SCO2 cytochrome c oxidase assembly protein

Cytochrome c oxidase (COX) catalyzes the transfer of electrons from cytochrome c to molecular oxygen, which helps to maintain the proton gradient across the inner mitochondrial membrane that is necessary for aerobic ATP production. Human COX is a multimeric protein complex that requires several assembly factors; this gene encodes one of the COX assembly factors. The encoded protein is a metallochaperone that is involved in the biogenesis of cytochrome c oxidase subunit II. Mutations in this gene are associated with fatal infantile encephalocardiomyopathy and myopia 6. [provided by RefSeq, Oct 2014]

LOC100533622 Gene

sulfite oxidase pseudogene

PCYOX1 Gene

prenylcysteine oxidase 1

Prenylcysteine is released during the degradation of prenylated proteins. PCYOX1 catalyzes the degradation of prenylcysteine to yield free cysteines and a hydrophobic isoprenoid product (Tschantz et al., 1999 [PubMed 10585463]).[supplied by OMIM, Mar 2008]

COX6CP1 Gene

cytochrome c oxidase subunit VIc pseudogene 1

COX6CP2 Gene

cytochrome c oxidase subunit VIc pseudogene 2

COX6CP3 Gene

cytochrome c oxidase subunit VIc pseudogene 3

COX4I2 Gene

cytochrome c oxidase subunit IV isoform 2 (lung)

Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes isoform 2 of subunit IV. Isoform 1 of subunit IV is encoded by a different gene, however, the two genes show a similar structural organization. Subunit IV is the largest nuclear encoded subunit which plays a pivotal role in COX regulation. [provided by RefSeq, Jul 2008]

COX4I1 Gene

cytochrome c oxidase subunit IV isoform 1

Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer and proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit IV isoform 1 of the human mitochondrial respiratory chain enzyme. It is located at the 3' of the NOC4 (neighbor of COX4) gene in a head-to-head orientation, and shares a promoter with it. Pseudogenes related to this gene are located on chromosomes 13 and 14. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

LOX Gene

lysyl oxidase

This gene encodes a member of the lysyl oxidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate a regulatory propeptide and the mature enzyme. The copper-dependent amine oxidase activity of this enzyme functions in the crosslinking of collagens and elastin, while the propeptide may play a role in tumor suppression. In addition, defects in this gene have been linked with predisposition to thoracic aortic aneurysms and dissections. [provided by RefSeq, Jul 2016]

COX11P1 Gene

COX11 cytochrome c oxidase copper chaperone pseudogene 1

COX7A1 Gene

cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)

Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 1 (muscle isoform) of subunit VIIa and the polypeptide 1 is present only in muscle tissues. Other polypeptides of subunit VIIa are present in both muscle and nonmuscle tissues, and are encoded by different genes. [provided by RefSeq, Jul 2008]

COX7A2 Gene

cytochrome c oxidase subunit VIIa polypeptide 2 (liver)

Cytochrome c oxidase, the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of three catalytic subunits encoded by mitochondrial genes, and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, while the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (liver isoform) of subunit VIIa, with this polypeptide being present in both muscle and non-muscle tissues. In addition to polypeptide 2, subunit VIIa includes polypeptide 1 (muscle isoform), which is present only in muscle tissues, and a related protein, which is present in all tissues. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4 and 14. [provided by RefSeq, Oct 2009]

COX7B Gene

cytochrome c oxidase subunit VIIb

Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes subunit VIIb, which is highly similar to bovine COX VIIb protein and is found in all tissues. This gene may have several pseudogenes on chromosomes 1, 2, 20 and 22. [provided by RefSeq, Jun 2011]

COX7C Gene

cytochrome c oxidase subunit VIIc

Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes subunit VIIc, which shares 87% and 85% amino acid sequence identity with mouse and bovine COX VIIc, respectively, and is found in all tissues. A pseudogene COX7CP1 has been found on chromosome 13. [provided by RefSeq, Jul 2008]

COX6B1 Gene

cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)

Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes subunit VIb. Mutations in this gene are associated with severe infantile encephalomyopathy. Three pseudogenes COX6BP-1, COX6BP-2 and COX6BP-3 have been found on chromosomes 7, 17 and 22q13.1-13.2, respectively. [provided by RefSeq, Jan 2010]

COX6B2 Gene

cytochrome c oxidase subunit VIb polypeptide 2 (testis)

Predicted to be involved in oxidative phosphorylation. Located in mitochondrial crista. [provided by Alliance of Genome Resources, Mar 2025]

DAO Gene

D-amino-acid oxidase

This gene encodes the peroxisomal enzyme D-amino acid oxidase. The enzyme is a flavoprotein which uses flavin adenine dinucleotide (FAD) as its prosthetic group. Its substrates include a wide variety of D-amino acids, but it is inactive on the naturally occurring L-amino acids. Its biological function is not known; it may act as a detoxifying agent which removes D-amino acids that accumulate during aging. In mice, it degrades D-serine, a co-agonist of the NMDA receptor. This gene may play a role in the pathophysiology of schizophrenia. [provided by RefSeq, Jul 2008]

COX7A2P1 Gene

cytochrome c oxidase subunit VIIa polypeptide 2 (liver) pseudogene 1

LOC100289371 Gene

mitochondrially encoded cytochrome c oxidase III pseudogene

COX6B1P4 Gene

cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 4

COX6B1P3 Gene

cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 3

COX6B1P2 Gene

cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 2

COX6B1P1 Gene

cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 1

COX6B1P6 Gene

cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 6

PPOX Gene

protoporphyrinogen oxidase

This gene encodes the penultimate enzyme of heme biosynthesis, which catalyzes the 6-electron oxidation of protoporphyrinogen IX to form protoporphyrin IX. Mutations in this gene cause variegate porphyria, an autosomal dominant disorder of heme metabolism resulting from a deficiency in protoporphyrinogen oxidase, an enzyme located on the inner mitochondrial membrane. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

NOXA1 Gene

NADPH oxidase activator 1

This gene encodes a protein which activates NADPH oxidases, enzymes which catalyze a reaction generating reactive oxygen species. The encoded protein contains four N-terminal tetratricopeptide domains and a C-terminal Src homology 3 domain. Interaction between the encoded protein and proteins in the oxidase regulatory complex occur via the tetratricopeptide domains. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

COX8C Gene

cytochrome c oxidase subunit VIIIC

Predicted to be involved in mitochondrial electron transport, cytochrome c to oxygen. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

COX8A Gene

cytochrome c oxidase subunit VIIIA (ubiquitous)

The protein encoded by this gene is the terminal enzyme of the respiratory chain, coupling the transfer of electrons from cytochrome c to molecular oxygen, with the concomitant production of a proton electrochemical gradient across the inner mitochondrial membrane. In addition to 3 mitochondrially encoded subunits, which perform the catalytic function, the eukaryotic enzyme contains nuclear-encoded smaller subunits, ranging in number from 4 in some organisms to 10 in mammals. It has been proposed that nuclear-encoded subunits may be involved in the modulation of the catalytic function. This gene encodes one of the nuclear-encoded subunits. [provided by RefSeq, Jul 2008]

COX5AP2 Gene

cytochrome c oxidase subunit Va pseudogene 2

COX5AP1 Gene

cytochrome c oxidase subunit Va pseudogene 1

SUOX Gene

sulfite oxidase

Sulfite oxidase is a homodimeric protein localized to the intermembrane space of mitochondria. Each subunit contains a heme domain and a molybdopterin-binding domain. The enzyme catalyzes the oxidation of sulfite to sulfate, the final reaction in the oxidative degradation of the sulfur amino acids cysteine and methionine. Sulfite oxidase deficiency results in neurological abnormalities which are often fatal at an early age. Alternative splicing results in multiple transcript variants encoding identical proteins. [provided by RefSeq, Jul 2008]

COX6A1P3 Gene

cytochrome c oxidase subunit VIa polypeptide 1 pseudogene 3

HAO2 Gene

hydroxyacid oxidase 2 (long chain)

This gene is one of three related genes that have 2-hydroxyacid oxidase activity. The encoded protein localizes to the peroxisome has the highest activity toward the substrate 2-hydroxypalmitate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

COA8 Gene

cytochrome c oxidase assembly factor 8

This gene encodes a protein that localizes to the mitochondria, where it stimulates the release of cytochrome c, thereby promoting programmed cell death. Mutations in this gene have been found in individuals with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

AOX3P Gene

aldehyde oxidase 3, pseudogene

Predicted to enable aldehyde oxidase activity; electron transfer activity; and molybdenum ion binding activity. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

COXFA4 Gene

cytochrome c oxidase associated subunit FA4

COXFA4L2 Gene

cytochrome c oxidase hypoxia associated subunit FA4L2

COXFA4L3 Gene

cytochrome c oxidase associated subunit FA4L3

LOC107984365 Gene

cytochrome c oxidase subunit NDUFA4-like

Peroxisomal ACYL-COA oxidase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Peroxisomal ACYL-COA oxidase deficiency from the curated CTD Gene-Disease Associations dataset.

peroxisomal acyl-coa oxidase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the peroxisomal acyl-coa oxidase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

Peroxisomal Acyl-Coa Oxidase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Peroxisomal Acyl-Coa Oxidase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Peroxisomal acyl-CoA oxidase deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Peroxisomal acyl-CoA oxidase deficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Peroxisomal acyl-CoA oxidase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Peroxisomal acyl-CoA oxidase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Sulfite oxidase deficiency due to molybdenum cofactor deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Sulfite oxidase deficiency due to molybdenum cofactor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

acyl-[acyl-carrier-protein] hydrolase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the acyl-[acyl-carrier-protein] hydrolase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

transferase activity, transferring acyl groups, acyl groups converted into alkyl on transfer Gene Set

From GO Molecular Function Annotations 2015

genes performing the transferase activity, transferring acyl groups, acyl groups converted into alkyl on transfer molecular function from the curated GO Molecular Function Annotations 2015 dataset.

transferase activity, transferring acyl groups other than amino-acyl groups Gene Set

From GO Molecular Function Annotations 2015

genes performing the transferase activity, transferring acyl groups other than amino-acyl groups molecular function from the curated GO Molecular Function Annotations 2015 dataset.

Acyl transferase/acyl hydrolase/lysophospholipase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Acyl transferase/acyl hydrolase/lysophospholipase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

acyl-[acyl-carrier-protein] hydrolase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the acyl-[acyl-carrier-protein] hydrolase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

Acyl-coenzyme A oxidase, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Acyl-coenzyme A oxidase, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Bifunctional peroxisomal enzyme deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bifunctional peroxisomal enzyme deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bifunctional Peroxisomal Enzyme Deficiency Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Bifunctional Peroxisomal Enzyme Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Bifunctional peroxisomal enzyme deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Bifunctional peroxisomal enzyme deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; protein c deficiency; protein s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; protein c deficiency; protein s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Medium-chain acyl-coenzyme A dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Medium-chain acyl-coenzyme A dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple Acyl Coenzyme A Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Multiple Acyl Coenzyme A Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

disorder of muscle, unspec; lipidoses; lipoidosis; multiple acyl coenzyme a dehydrogenase deficiency; muscular diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease disorder of muscle, unspec; lipidoses; lipoidosis; multiple acyl coenzyme a dehydrogenase deficiency; muscular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Multiple Acyl Coenzyme A Dehydrogenase Deficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Multiple Acyl Coenzyme A Dehydrogenase Deficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Multiple Acyl Coenzyme A Dehydrogenase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Multiple Acyl Coenzyme A Dehydrogenase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Medium-chain acyl-coenzyme A dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Medium-chain acyl-coenzyme A dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Sulfite oxidase deficiency, isolated Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sulfite oxidase deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Monoamine oxidase A deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Monoamine oxidase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cytochrome-c oxidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cytochrome-c oxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of xanthine oxidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of xanthine oxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset.

Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset.

Cytochrome-c Oxidase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cytochrome-c Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset.

Sulfite oxidase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Sulfite oxidase deficiency from the curated CTD Gene-Disease Associations dataset.

cytochrome-c oxidase deficiency disease Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease cytochrome-c oxidase deficiency disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

cytochrome-c oxidase deficiency; leigh disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cytochrome-c oxidase deficiency; leigh disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hypertrophic cardiomyopathy and cytochrome c oxidase deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hypertrophic cardiomyopathy and cytochrome c oxidase deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

leigh syndrome and cytochrome c oxidase deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease leigh syndrome and cytochrome c oxidase deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

sulfite oxidase deficiency Gene Set

From HPO Gene-Disease Associations

genes associated with the sulfite oxidase deficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aldehyde oxidase deficiency Gene Set

From HPO Gene-Disease Associations

genes associated with the aldehyde oxidase deficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Cytochrome-c Oxidase Deficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Cytochrome-c Oxidase Deficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

pyridoxamine 5'-phosphate oxidase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the pyridoxamine 5'-phosphate oxidase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

sulfite oxidase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the sulfite oxidase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

leigh syndrome due to cytochrome c oxidase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the leigh syndrome due to cytochrome c oxidase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

[urate oxidase deficiency] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [urate oxidase deficiency] phenotype from the curated OMIM Gene-Disease Associations dataset.

Deficiency Of Oxidase Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Deficiency Of Oxidase in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cytochrome-C Oxidase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Cytochrome-C Oxidase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cytochrome C Oxidase I Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Cytochrome C Oxidase I Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Corticosterone Methyl Oxidase Type I Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Corticosterone Methyl Oxidase Type I Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Corticosterone Methyl Oxidase Type Ii Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Corticosterone Methyl Oxidase Type Ii Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Sulfite Oxidase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Sulfite Oxidase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Deficiency Of Aldehyde Oxidase Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Deficiency Of Aldehyde Oxidase in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Extraoral Halitosis Due To Methanethiol Oxidase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Extraoral Halitosis Due To Methanethiol Oxidase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

cytochrome-c oxidase deficiency disease Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease cytochrome-c oxidase deficiency disease from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Isolated sulfite oxidase deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Isolated sulfite oxidase deficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Pyridoxamine 5'-phosphate oxidase deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Pyridoxamine 5'-phosphate oxidase deficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

cytochrome-c oxidase deficiency disease Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease cytochrome-c oxidase deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Isolated sulfite oxidase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Isolated sulfite oxidase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Pyridoxamine 5'-phosphate oxidase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Pyridoxamine 5'-phosphate oxidase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Sulfite oxidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Sulfite oxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Corticosterone methyl oxidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Corticosterone methyl oxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

integral component of peroxisomal membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the integral component of peroxisomal membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

intrinsic component of peroxisomal membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the intrinsic component of peroxisomal membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

peroxisomal matrix Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the peroxisomal matrix cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

peroxisomal part Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the peroxisomal part cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

peroxisomal membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the peroxisomal membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

peroxisomal matrix Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the peroxisomal matrix cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

peroxisomal part Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the peroxisomal part cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

peroxisomal membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the peroxisomal membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

Peroxisomal Disorders Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Peroxisomal Disorders from the curated CTD Gene-Disease Associations dataset.

peroxisomal disease Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease peroxisomal disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

peroxisomal disease Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease peroxisomal disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

peroxisomal Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term peroxisomal in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

peroxisomal transport Gene Set

From GO Biological Process Annotations 2015

genes participating in the peroxisomal transport biological process from the curated GO Biological Process Annotations 2015 dataset.

peroxisomal long-chain fatty acid import Gene Set

From GO Biological Process Annotations 2015

genes participating in the peroxisomal long-chain fatty acid import biological process from the curated GO Biological Process Annotations 2015 dataset.

peroxisomal membrane transport Gene Set

From GO Biological Process Annotations 2015

genes participating in the peroxisomal membrane transport biological process from the curated GO Biological Process Annotations 2015 dataset.

integral component of peroxisomal membrane Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the integral component of peroxisomal membrane cellular component from the curated GO Cellular Component Annotations 2015 dataset.

peroxisomal matrix Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the peroxisomal matrix cellular component from the curated GO Cellular Component Annotations 2015 dataset.

peroxisomal part Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the peroxisomal part cellular component from the curated GO Cellular Component Annotations 2015 dataset.

peroxisomal membrane Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the peroxisomal membrane cellular component from the curated GO Cellular Component Annotations 2015 dataset.

intrinsic component of peroxisomal membrane Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the intrinsic component of peroxisomal membrane cellular component from the curated GO Cellular Component Annotations 2015 dataset.

Peroxisomal membrane protein 4 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Peroxisomal membrane protein 4 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Peroxisomal biogenesis factor 11 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Peroxisomal biogenesis factor 11 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Peroxisomal testis-specific protein 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Peroxisomal testis-specific protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Peroxisomal membrane protein 14 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Peroxisomal membrane protein 14 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Peroxisomal targeting signal 1 receptor family Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Peroxisomal targeting signal 1 receptor family protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Mitochondrial inner membrane translocase subunit Tim17/Tim22/Tim23/peroxisomal protein PMP24 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitochondrial inner membrane translocase subunit Tim17/Tim22/Tim23/peroxisomal protein PMP24 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Lon protease homologue 2, peroxisomal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Lon protease homologue 2, peroxisomal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Peroxisomal membrane protein 11C, metazoa Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Peroxisomal membrane protein 11C, metazoa protein domain from the InterPro Predicted Protein Domain Annotations dataset.

encephalopahty, lethal, due to defective mitochondrial peroxisomal fission Gene Set

From OMIM Gene-Disease Associations

genes associated with the encephalopahty, lethal, due to defective mitochondrial peroxisomal fission phenotype from the curated OMIM Gene-Disease Associations dataset.

Peroxisomal lipid metabolism Gene Set

From Reactome Pathways 2014

proteins participating in the Peroxisomal lipid metabolism pathway from the Reactome Pathways dataset.

Peroxisomal Dysfunction Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Peroxisomal Dysfunction in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Peroxisomal Biogenesis Disorder Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Peroxisomal Biogenesis Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

peroxisomal membrane transport Gene Set

From GO Biological Process Annotations 2023

genes participating in the peroxisomal membrane transport biological process from the curated GO Biological Process Annotations 2023 dataset.

peroxisomal transport Gene Set

From GO Biological Process Annotations 2023

genes participating in the peroxisomal transport biological process from the curated GO Biological Process Annotations 2023 dataset.

peroxisomal matrix Gene Set

From GO Cellular Component Annotations 2023

proteins localized to the peroxisomal matrix cellular component from the curated GO Cellular Component Annotations 2023 dataset.

peroxisomal membrane Gene Set

From GO Cellular Component Annotations 2023

proteins localized to the peroxisomal membrane cellular component from the curated GO Cellular Component Annotations 2023 dataset.

Class I peroxisomal membrane protein import Gene Set

From Reactome Pathways 2024

proteins participating in the Class I peroxisomal membrane protein import pathway from the Reactome Pathways 2024 dataset.

Peroxisomal lipid metabolism Gene Set

From Reactome Pathways 2024

proteins participating in the Peroxisomal lipid metabolism pathway from the Reactome Pathways 2024 dataset.

Peroxisomal protein import Gene Set

From Reactome Pathways 2024

proteins participating in the Peroxisomal protein import pathway from the Reactome Pathways 2024 dataset.

TYSND1 cleaves peroxisomal proteins Gene Set

From Reactome Pathways 2024

proteins participating in the TYSND1 cleaves peroxisomal proteins pathway from the Reactome Pathways 2024 dataset.

peroxisomal membrane transport Gene Set

From GO Biological Process Annotations 2025

genes participating in the peroxisomal membrane transport biological process from the curated GO Biological Process Annotations 2025 dataset.

peroxisomal transport Gene Set

From GO Biological Process Annotations 2025

genes participating in the peroxisomal transport biological process from the curated GO Biological Process Annotations 2025 dataset.

peroxisomal membrane Gene Set

From GO Cellular Component Annotations 2025

proteins localized to the peroxisomal membrane cellular component from the curated GO Cellular Component Annotations 2025 dataset.

peroxisomal matrix Gene Set

From GO Cellular Component Annotations 2025

proteins localized to the peroxisomal matrix cellular component from the curated GO Cellular Component Annotations 2025 dataset.

Peroxisomal disease Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Peroxisomal disease from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Peroxisomal biogenesis disorder Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Peroxisomal biogenesis disorder from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Peroxisomal disease Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Peroxisomal disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Peroxisomal biogenesis disorder Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Peroxisomal biogenesis disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Encephalopathy due to defective mitochondrial and peroxisomal fission 1 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Encephalopathy due to defective mitochondrial and peroxisomal fission 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Peroxisomal membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Peroxisomal membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

Peroxisomal matrix Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Peroxisomal matrix cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

Peroxisomal importomer complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Peroxisomal importomer complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

Peroxisomal matrix Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Peroxisomal matrix cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Peroxisomal membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Peroxisomal membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Peroxisomal importomer complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Peroxisomal importomer complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Intrinsic component of peroxisomal membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Intrinsic component of peroxisomal membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Integral component of peroxisomal membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Integral component of peroxisomal membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Peroxisomal disorder Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Peroxisomal disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Peroxisomal biogenesis disorder 3b Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Peroxisomal biogenesis disorder 3b phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Encephalopathy due to defective mitochondrial and peroxisomal fission Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Encephalopathy due to defective mitochondrial and peroxisomal fission phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Neuraminidase deficiency with beta-galactosidase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuraminidase deficiency with beta-galactosidase deficiency from the curated CTD Gene-Disease Associations dataset.

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE from the curated CTD Gene-Disease Associations dataset.

eclampsia; pre-eclampsia; protein c deficiency; protein s deficiency; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease eclampsia; pre-eclampsia; protein c deficiency; protein s deficiency; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

blood coagulation disorders, inherited; protein c deficiency; protein s deficiency; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blood coagulation disorders, inherited; protein c deficiency; protein s deficiency; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

blood coagulation disorders; protein c deficiency; protein s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blood coagulation disorders; protein c deficiency; protein s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; iron deficiency anaemia; tuberculosis, pulmonary Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia; tuberculosis, pulmonary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

folic acid deficiency; fractures, bone; osteoporosis, postmenopausal; riboflavin deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease folic acid deficiency; fractures, bone; osteoporosis, postmenopausal; riboflavin deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; blood coagulation disorders; liver diseases; protein c deficiency; protein s deficiency; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; blood coagulation disorders; liver diseases; protein c deficiency; protein s deficiency; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia; iron overload Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

choline deficiency; dna damage; folic acid deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease choline deficiency; dna damage; folic acid deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

folic acid deficiency; pregnancy complications; prenatal exposure delayed effects; psychomotor disorders; vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease folic acid deficiency; pregnancy complications; prenatal exposure delayed effects; psychomotor disorders; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; beta thalassemia; beta-thalassemia; iron deficiency anaemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; beta thalassemia; beta-thalassemia; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; iron deficiency anaemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

protein c deficiency; protein s deficiency; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease protein c deficiency; protein s deficiency; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; iron deficiency anaemia; iron overload Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neoplasms; protein c deficiency; protein s deficiency; venous thromboembolism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neoplasms; protein c deficiency; protein s deficiency; venous thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic renal failure; folic acid deficiency; hyperhomocysteinemia; kidney failure, chronic; vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic renal failure; folic acid deficiency; hyperhomocysteinemia; kidney failure, chronic; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) Gene Set

From Reactome Pathways 2014

proteins participating in the Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) pathway from the Reactome Pathways dataset.

Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) Gene Set

From Reactome Pathways 2014

proteins participating in the Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) pathway from the Reactome Pathways dataset.

Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) Gene Set

From Reactome Pathways 2014

proteins participating in the Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) pathway from the Reactome Pathways dataset.

Defective HK1 causes hexokinase deficiency (HK deficiency) Gene Set

From Reactome Pathways 2024

proteins participating in the Defective HK1 causes hexokinase deficiency (HK deficiency) pathway from the Reactome Pathways 2024 dataset.

Acyl Coenzyme A Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Acyl Coenzyme A from the curated CTD Gene-Chemical Interactions dataset.

1-acyl-2-(12-((7-nitrobenz-2-oxa-1,3-diazol-4-yl)amino)dodecanoyl)phosphatidylcholine Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical 1-acyl-2-(12-((7-nitrobenz-2-oxa-1,3-diazol-4-yl)amino)dodecanoyl)phosphatidylcholine from the curated CTD Gene-Chemical Interactions dataset.

acyl Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term acyl in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

acyl carnitine transmembrane transport Gene Set

From GO Biological Process Annotations 2015

genes participating in the acyl carnitine transmembrane transport biological process from the curated GO Biological Process Annotations 2015 dataset.

phosphatidylserine acyl-chain remodeling Gene Set

From GO Biological Process Annotations 2015

genes participating in the phosphatidylserine acyl-chain remodeling biological process from the curated GO Biological Process Annotations 2015 dataset.

phosphatidylglycerol acyl-chain remodeling Gene Set

From GO Biological Process Annotations 2015

genes participating in the phosphatidylglycerol acyl-chain remodeling biological process from the curated GO Biological Process Annotations 2015 dataset.

acylglycerol acyl-chain remodeling Gene Set

From GO Biological Process Annotations 2015

genes participating in the acylglycerol acyl-chain remodeling biological process from the curated GO Biological Process Annotations 2015 dataset.

cardiolipin acyl-chain remodeling Gene Set

From GO Biological Process Annotations 2015

genes participating in the cardiolipin acyl-chain remodeling biological process from the curated GO Biological Process Annotations 2015 dataset.

triglyceride acyl-chain remodeling Gene Set

From GO Biological Process Annotations 2015

genes participating in the triglyceride acyl-chain remodeling biological process from the curated GO Biological Process Annotations 2015 dataset.

acyl carnitine transport Gene Set

From GO Biological Process Annotations 2015

genes participating in the acyl carnitine transport biological process from the curated GO Biological Process Annotations 2015 dataset.

phosphatidylinositol acyl-chain remodeling Gene Set

From GO Biological Process Annotations 2015

genes participating in the phosphatidylinositol acyl-chain remodeling biological process from the curated GO Biological Process Annotations 2015 dataset.

phosphatidylethanolamine acyl-chain remodeling Gene Set

From GO Biological Process Annotations 2015

genes participating in the phosphatidylethanolamine acyl-chain remodeling biological process from the curated GO Biological Process Annotations 2015 dataset.

phosphatidylcholine acyl-chain remodeling Gene Set

From GO Biological Process Annotations 2015

genes participating in the phosphatidylcholine acyl-chain remodeling biological process from the curated GO Biological Process Annotations 2015 dataset.

acyl binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the acyl binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

enoyl-[acyl-carrier-protein] reductase (nadph, a-specific) activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the enoyl-[acyl-carrier-protein] reductase (nadph, a-specific) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the 3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

myristoyl-[acyl-carrier-protein] hydrolase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the myristoyl-[acyl-carrier-protein] hydrolase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

3-hydroxyacyl-[acyl-carrier-protein] dehydratase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the 3-hydroxyacyl-[acyl-carrier-protein] dehydratase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

transferase activity, transferring acyl groups Gene Set

From GO Molecular Function Annotations 2015

genes performing the transferase activity, transferring acyl groups molecular function from the curated GO Molecular Function Annotations 2015 dataset.

3-oxoacyl-[acyl-carrier-protein] synthase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the 3-oxoacyl-[acyl-carrier-protein] synthase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

enoyl-[acyl-carrier-protein] reductase (nadph, b-specific) activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the enoyl-[acyl-carrier-protein] reductase (nadph, b-specific) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

holo-[acyl-carrier-protein] synthase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the holo-[acyl-carrier-protein] synthase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

transferase activity, transferring amino-acyl groups Gene Set

From GO Molecular Function Annotations 2015

genes performing the transferase activity, transferring amino-acyl groups molecular function from the curated GO Molecular Function Annotations 2015 dataset.

acyl carnitine transmembrane transporter activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the acyl carnitine transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

oleoyl-[acyl-carrier-protein] hydrolase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the oleoyl-[acyl-carrier-protein] hydrolase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

3-oxoacyl-[acyl-carrier-protein] reductase (nadph) activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the 3-oxoacyl-[acyl-carrier-protein] reductase (nadph) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

[acyl-carrier-protein] s-malonyltransferase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the [acyl-carrier-protein] s-malonyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

[acyl-carrier-protein] s-acetyltransferase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the [acyl-carrier-protein] s-acetyltransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

palmitoyl-[acyl-carrier-protein] hydrolase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the palmitoyl-[acyl-carrier-protein] hydrolase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

1-acyl-2-lysophosphatidylserine acylhydrolase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the 1-acyl-2-lysophosphatidylserine acylhydrolase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

Mycophenolic acid O-acyl-glucuronide Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the Mycophenolic acid O-acyl-glucuronide metabolite from the curated HMDB Metabolites of Enzymes dataset.

Dihydroxyacetone Phosphate Acyl Ester Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the Dihydroxyacetone Phosphate Acyl Ester metabolite from the curated HMDB Metabolites of Enzymes dataset.

acyl carrier protein metabolism Gene Set

From HumanCyc Pathways

proteins participating in the acyl carrier protein metabolism pathway from the HumanCyc Pathways dataset.

Thiolase, acyl-enzyme intermediate active site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Thiolase, acyl-enzyme intermediate active site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Acyl transferase domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Acyl transferase domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Acyl transferase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Acyl transferase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cas1p 10 TM acyl transferase domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cas1p 10 TM acyl transferase domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Peroxysomal long chain fatty acyl transporter Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Peroxysomal long chain fatty acyl transporter protein domain from the InterPro Predicted Protein Domain Annotations dataset.

N-acyl-L-amino-acid amidohydrolase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the N-acyl-L-amino-acid amidohydrolase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Acyl carrier protein (ACP) Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Acyl carrier protein (ACP) protein domain from the InterPro Predicted Protein Domain Annotations dataset.

1-acyl-sn-glycerol-3-phosphate acyltransferase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the 1-acyl-sn-glycerol-3-phosphate acyltransferase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

N-acyl-phosphatidylethanolamine-hydrolysing phospholipase D Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the N-acyl-phosphatidylethanolamine-hydrolysing phospholipase D protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Acyl carrier protein-like Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Acyl carrier protein-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

3-oxoacyl-[acyl-carrier-protein] synthase 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the 3-oxoacyl-[acyl-carrier-protein] synthase 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Membrane bound O-acyl transferase, MBOAT Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Membrane bound O-acyl transferase, MBOAT protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Acyl chain remodeling of CL Gene Set

From Reactome Pathways 2014

proteins participating in the Acyl chain remodeling of CL pathway from the Reactome Pathways dataset.

Acyl chain remodelling of PG Gene Set

From Reactome Pathways 2014

proteins participating in the Acyl chain remodelling of PG pathway from the Reactome Pathways dataset.

Acyl chain remodelling of PE Gene Set

From Reactome Pathways 2014

proteins participating in the Acyl chain remodelling of PE pathway from the Reactome Pathways dataset.

Acyl chain remodelling of PC Gene Set

From Reactome Pathways 2014

proteins participating in the Acyl chain remodelling of PC pathway from the Reactome Pathways dataset.

Acyl chain remodelling of PI Gene Set

From Reactome Pathways 2014

proteins participating in the Acyl chain remodelling of PI pathway from the Reactome Pathways dataset.

Acyl chain remodelling of PS Gene Set

From Reactome Pathways 2014

proteins participating in the Acyl chain remodelling of PS pathway from the Reactome Pathways dataset.

Synthesis of very long-chain fatty acyl-CoAs Gene Set

From Reactome Pathways 2014

proteins participating in the Synthesis of very long-chain fatty acyl-CoAs pathway from the Reactome Pathways dataset.

Acyl chain remodeling of DAG and TAG Gene Set

From Reactome Pathways 2014

proteins participating in the Acyl chain remodeling of DAG and TAG pathway from the Reactome Pathways dataset.

cardiolipin acyl-chain remodeling Gene Set

From GO Biological Process Annotations 2023

genes participating in the cardiolipin acyl-chain remodeling biological process from the curated GO Biological Process Annotations 2023 dataset.

phosphatidylcholine acyl-chain remodeling Gene Set

From GO Biological Process Annotations 2023

genes participating in the phosphatidylcholine acyl-chain remodeling biological process from the curated GO Biological Process Annotations 2023 dataset.

phosphatidylglycerol acyl-chain remodeling Gene Set

From GO Biological Process Annotations 2023

genes participating in the phosphatidylglycerol acyl-chain remodeling biological process from the curated GO Biological Process Annotations 2023 dataset.

phosphatidylethanolamine acyl-chain remodeling Gene Set

From GO Biological Process Annotations 2023

genes participating in the phosphatidylethanolamine acyl-chain remodeling biological process from the curated GO Biological Process Annotations 2023 dataset.

phosphatidylinositol acyl-chain remodeling Gene Set

From GO Biological Process Annotations 2023

genes participating in the phosphatidylinositol acyl-chain remodeling biological process from the curated GO Biological Process Annotations 2023 dataset.

phosphatidylserine acyl-chain remodeling Gene Set

From GO Biological Process Annotations 2023

genes participating in the phosphatidylserine acyl-chain remodeling biological process from the curated GO Biological Process Annotations 2023 dataset.

acylglycerol acyl-chain remodeling Gene Set

From GO Biological Process Annotations 2023

genes participating in the acylglycerol acyl-chain remodeling biological process from the curated GO Biological Process Annotations 2023 dataset.

triglyceride acyl-chain remodeling Gene Set

From GO Biological Process Annotations 2023

genes participating in the triglyceride acyl-chain remodeling biological process from the curated GO Biological Process Annotations 2023 dataset.

acyl carnitine transmembrane transporter activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the acyl carnitine transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

N-(long-chain-acyl)ethanolamine deacylase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the N-(long-chain-acyl)ethanolamine deacylase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

acyltransferase activity, transferring groups other than amino-acyl groups Gene Set

From GO Molecular Function Annotations 2023

genes performing the acyltransferase activity, transferring groups other than amino-acyl groups molecular function from the curated GO Molecular Function Annotations 2023 dataset.

[acyl-carrier-protein] S-malonyltransferase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the [acyl-carrier-protein] S-malonyltransferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the 3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

acyl-coenzyme A diphosphatase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the acyl-coenzyme A diphosphatase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

holo-[acyl-carrier-protein] synthase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the holo-[acyl-carrier-protein] synthase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

myristoyl-[acyl-carrier-protein] hydrolase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the myristoyl-[acyl-carrier-protein] hydrolase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

palmitoyl-[acyl-carrier-protein] hydrolase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the palmitoyl-[acyl-carrier-protein] hydrolase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

dodecanoyl-[acyl-carrier-protein] hydrolase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the dodecanoyl-[acyl-carrier-protein] hydrolase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

3-oxoacyl-[acyl-carrier-protein] synthase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the 3-oxoacyl-[acyl-carrier-protein] synthase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

(3R)-hydroxyacyl-[acyl-carrier-protein] dehydratase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the (3R)-hydroxyacyl-[acyl-carrier-protein] dehydratase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

acyltransferase activity, acyl groups converted into alkyl on transfer Gene Set

From GO Molecular Function Annotations 2023

genes performing the acyltransferase activity, acyl groups converted into alkyl on transfer molecular function from the curated GO Molecular Function Annotations 2023 dataset.

1-Acyl-sn-glycero-3-phosphocholine Gene Set

From MW Enzyme Metabolite Associations

interacting proteins for 1-Acyl-sn-glycero-3-phosphocholine metabolite from the MW Gene Metabolite Associations dataset.

1-Acyl-sn-glycero-3-phosphoethanolamine Gene Set

From MW Enzyme Metabolite Associations

interacting proteins for 1-Acyl-sn-glycero-3-phosphoethanolamine metabolite from the MW Gene Metabolite Associations dataset.

1-Radyl-2-acyl-sn-glycero-3-phosphocholine Gene Set

From MW Enzyme Metabolite Associations

interacting proteins for 1-Radyl-2-acyl-sn-glycero-3-phosphocholine metabolite from the MW Gene Metabolite Associations dataset.

2-Acyl-1-alkyl-sn-glycero-3-phosphate Gene Set

From MW Enzyme Metabolite Associations

interacting proteins for 2-Acyl-1-alkyl-sn-glycero-3-phosphate metabolite from the MW Gene Metabolite Associations dataset.

1-Acyl-sn-glycero-3-phosphoglycerol Gene Set

From MW Enzyme Metabolite Associations

interacting proteins for 1-Acyl-sn-glycero-3-phosphoglycerol metabolite from the MW Gene Metabolite Associations dataset.

1-Acyl-sn-glycero-3-phosphoserine Gene Set

From MW Enzyme Metabolite Associations

interacting proteins for 1-Acyl-sn-glycero-3-phosphoserine metabolite from the MW Gene Metabolite Associations dataset.

1-Acyl-sn-glycerol 3-phosphate Gene Set

From MW Enzyme Metabolite Associations

interacting proteins for 1-Acyl-sn-glycerol 3-phosphate metabolite from the MW Gene Metabolite Associations dataset.

Acyl chain remodeling of CL Gene Set

From Reactome Pathways 2024

proteins participating in the Acyl chain remodeling of CL pathway from the Reactome Pathways 2024 dataset.

Acyl chain remodeling of DAG and TAG Gene Set

From Reactome Pathways 2024

proteins participating in the Acyl chain remodeling of DAG and TAG pathway from the Reactome Pathways 2024 dataset.

Acyl chain remodelling of PC Gene Set

From Reactome Pathways 2024

proteins participating in the Acyl chain remodelling of PC pathway from the Reactome Pathways 2024 dataset.

Acyl chain remodelling of PE Gene Set

From Reactome Pathways 2024

proteins participating in the Acyl chain remodelling of PE pathway from the Reactome Pathways 2024 dataset.

Acyl chain remodelling of PG Gene Set

From Reactome Pathways 2024

proteins participating in the Acyl chain remodelling of PG pathway from the Reactome Pathways 2024 dataset.

Acyl chain remodelling of PI Gene Set

From Reactome Pathways 2024

proteins participating in the Acyl chain remodelling of PI pathway from the Reactome Pathways 2024 dataset.

Acyl chain remodelling of PS Gene Set

From Reactome Pathways 2024

proteins participating in the Acyl chain remodelling of PS pathway from the Reactome Pathways 2024 dataset.

Synthesis of very long-chain fatty acyl-CoAs Gene Set

From Reactome Pathways 2024

proteins participating in the Synthesis of very long-chain fatty acyl-CoAs pathway from the Reactome Pathways 2024 dataset.

cardiolipin acyl-chain remodeling Gene Set

From GO Biological Process Annotations 2025

genes participating in the cardiolipin acyl-chain remodeling biological process from the curated GO Biological Process Annotations 2025 dataset.

phosphatidylcholine acyl-chain remodeling Gene Set

From GO Biological Process Annotations 2025

genes participating in the phosphatidylcholine acyl-chain remodeling biological process from the curated GO Biological Process Annotations 2025 dataset.

phosphatidylglycerol acyl-chain remodeling Gene Set

From GO Biological Process Annotations 2025

genes participating in the phosphatidylglycerol acyl-chain remodeling biological process from the curated GO Biological Process Annotations 2025 dataset.

phosphatidylethanolamine acyl-chain remodeling Gene Set

From GO Biological Process Annotations 2025

genes participating in the phosphatidylethanolamine acyl-chain remodeling biological process from the curated GO Biological Process Annotations 2025 dataset.

phosphatidylinositol acyl-chain remodeling Gene Set

From GO Biological Process Annotations 2025

genes participating in the phosphatidylinositol acyl-chain remodeling biological process from the curated GO Biological Process Annotations 2025 dataset.

phosphatidylserine acyl-chain remodeling Gene Set

From GO Biological Process Annotations 2025

genes participating in the phosphatidylserine acyl-chain remodeling biological process from the curated GO Biological Process Annotations 2025 dataset.

acylglycerol acyl-chain remodeling Gene Set

From GO Biological Process Annotations 2025

genes participating in the acylglycerol acyl-chain remodeling biological process from the curated GO Biological Process Annotations 2025 dataset.

triglyceride acyl-chain remodeling Gene Set

From GO Biological Process Annotations 2025

genes participating in the triglyceride acyl-chain remodeling biological process from the curated GO Biological Process Annotations 2025 dataset.

carnitine:O-acyl-L-carnitine antiporter activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the carnitine:O-acyl-L-carnitine antiporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

O-acyl-L-carnitine transmembrane transporter activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the O-acyl-L-carnitine transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

acyltransferase activity, transferring groups other than amino-acyl groups Gene Set

From GO Molecular Function Annotations 2025

genes performing the acyltransferase activity, transferring groups other than amino-acyl groups molecular function from the curated GO Molecular Function Annotations 2025 dataset.

acyl-L-homoserine-lactone lactonohydrolase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the acyl-L-homoserine-lactone lactonohydrolase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

[acyl-carrier-protein] S-acetyltransferase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the [acyl-carrier-protein] S-acetyltransferase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

N-(long-chain-acyl)ethanolamine deacylase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the N-(long-chain-acyl)ethanolamine deacylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

4-hydroxysphinganine ceramide fatty acyl 2-hydroxylase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the 4-hydroxysphinganine ceramide fatty acyl 2-hydroxylase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

[acyl-carrier-protein] S-malonyltransferase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the [acyl-carrier-protein] S-malonyltransferase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the 3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

enoyl-[acyl-carrier-protein] reductase (NADPH) activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the enoyl-[acyl-carrier-protein] reductase (NADPH) activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

holo-[acyl-carrier-protein] synthase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the holo-[acyl-carrier-protein] synthase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

fatty acyl-[ACP] hydrolase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the fatty acyl-[ACP] hydrolase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

3-oxoacyl-[acyl-carrier-protein] synthase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the 3-oxoacyl-[acyl-carrier-protein] synthase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

(3R)-hydroxyacyl-[acyl-carrier-protein] dehydratase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the (3R)-hydroxyacyl-[acyl-carrier-protein] dehydratase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

acyltransferase activity, acyl groups converted into alkyl on transfer Gene Set

From GO Molecular Function Annotations 2025

genes performing the acyltransferase activity, acyl groups converted into alkyl on transfer molecular function from the curated GO Molecular Function Annotations 2025 dataset.

enoyl-[acyl-carrier-protein] reductase activity (NAD(P)H) Gene Set

From GO Molecular Function Annotations 2025

genes performing the enoyl-[acyl-carrier-protein] reductase activity (NAD(P)H) molecular function from the curated GO Molecular Function Annotations 2025 dataset.

nadph oxidase complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the nadph oxidase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

nadph oxidase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the nadph oxidase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

Cytochrome c oxidase (EC 1.9.3.1), mitochondrial Gene Set

From CORUM Protein Complexes

proteins in the Cytochrome c oxidase (EC 1.9.3.1), mitochondrial protein complex from the CORUM Protein Complexes dataset.

platelet monoamine oxidase b activity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease platelet monoamine oxidase b activity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

deficient cytochrome c oxidase assembly Gene Set

From GAD Gene-Disease Associations

genes associated with the disease deficient cytochrome c oxidase assembly in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

vascular nad(p)h oxidase activity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease vascular nad(p)h oxidase activity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

nadph oxidase Gene Set

From GAD Gene-Disease Associations

genes associated with the disease nadph oxidase in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

oxidase Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term oxidase in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

regulation of nad(p)h oxidase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of nad(p)h oxidase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of d-amino-acid oxidase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of d-amino-acid oxidase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

negative regulation of nad(p)h oxidase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the negative regulation of nad(p)h oxidase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

negative regulation of d-amino-acid oxidase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the negative regulation of d-amino-acid oxidase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of nad(p)h oxidase activity Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of nad(p)h oxidase activity biological process from the curated GO Biological Process Annotations 2015 dataset.

nadph oxidase complex Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the nadph oxidase complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

15-oxoprostaglandin 13-oxidase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the 15-oxoprostaglandin 13-oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

aldehyde oxidase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the aldehyde oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

pyridoxamine-phosphate oxidase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the pyridoxamine-phosphate oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

lathosterol oxidase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the lathosterol oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

sarcosine oxidase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the sarcosine oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

aliphatic-amine oxidase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the aliphatic-amine oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

xanthine oxidase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the xanthine oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

l-pipecolate oxidase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the l-pipecolate oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

nad(p)h oxidase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the nad(p)h oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

glyoxylate oxidase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the glyoxylate oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

c-4 methylsterol oxidase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the c-4 methylsterol oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

very-long-chain-(s)-2-hydroxy-acid oxidase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the very-long-chain-(s)-2-hydroxy-acid oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

superoxide-generating nadph oxidase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the superoxide-generating nadph oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

glycolate oxidase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the glycolate oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

(s)-2-hydroxy-acid oxidase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the (s)-2-hydroxy-acid oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

l-amino-acid oxidase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the l-amino-acid oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

aspartate oxidase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the aspartate oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

long-chain-alcohol oxidase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the long-chain-alcohol oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

prenylcysteine oxidase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the prenylcysteine oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

primary amine oxidase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the primary amine oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

caffeine oxidase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the caffeine oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

coproporphyrinogen oxidase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the coproporphyrinogen oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

cytochrome-c oxidase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the cytochrome-c oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

d-aspartate oxidase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the d-aspartate oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

heme-copper terminal oxidase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the heme-copper terminal oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

oxygen-dependent protoporphyrinogen oxidase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the oxygen-dependent protoporphyrinogen oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

d-amino-acid oxidase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the d-amino-acid oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

long-chain-(s)-2-hydroxy-long-chain-acid oxidase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the long-chain-(s)-2-hydroxy-long-chain-acid oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

protoporphyrinogen oxidase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the protoporphyrinogen oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

sulfite oxidase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the sulfite oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

electron transporter, transferring electrons from coqh2-cytochrome c reductase complex and cytochrome c oxidase complex activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the electron transporter, transferring electrons from coqh2-cytochrome c reductase complex and cytochrome c oxidase complex activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

protein-lysine 6-oxidase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the protein-lysine 6-oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

superoxide-generating nadph oxidase activator activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the superoxide-generating nadph oxidase activator activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

histamine oxidase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the histamine oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

methylputrescine oxidase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the methylputrescine oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

medium-chain-(s)-2-hydroxy-acid oxidase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the medium-chain-(s)-2-hydroxy-acid oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

diamine oxidase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the diamine oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

flavin-linked sulfhydryl oxidase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the flavin-linked sulfhydryl oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

polyamine oxidase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the polyamine oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

propane-1,3-diamine oxidase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the propane-1,3-diamine oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

thiol oxidase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the thiol oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

decreased activity of nadph oxidase Gene Set

From HPO Gene-Disease Associations

genes associated with the decreased activity of nadph oxidase phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

decreased activity of cytochrome c oxidase in muscle tissue Gene Set

From HPO Gene-Disease Associations

genes associated with the decreased activity of cytochrome c oxidase in muscle tissue phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Pyridoxine 5'-phosphate oxidase, dimerisation, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Pyridoxine 5'-phosphate oxidase, dimerisation, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Copper amine oxidase, N2/N3-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Copper amine oxidase, N2/N3-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome C oxidase subunit II, transmembrane domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome C oxidase subunit II, transmembrane domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase copper chaperone Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase copper chaperone protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Protoporphyrinogen oxidase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Protoporphyrinogen oxidase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase subunit 6C Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase subunit 6C protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Pyridoxamine 5'-phosphate oxidase-like, FMN-binding domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Pyridoxamine 5'-phosphate oxidase-like, FMN-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Aldehyde oxidase/xanthine dehydrogenase, a/b hammerhead Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Aldehyde oxidase/xanthine dehydrogenase, a/b hammerhead protein domain from the InterPro Predicted Protein Domain Annotations dataset.

FAD linked oxidase, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the FAD linked oxidase, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Aldehyde oxidase/xanthine dehydrogenase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Aldehyde oxidase/xanthine dehydrogenase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

NADPH oxidase subunit p47Phox, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the NADPH oxidase subunit p47Phox, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Pyridoxamine 5'-phosphate oxidase, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Pyridoxamine 5'-phosphate oxidase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase assembly protein CtaG/Cox11, domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase assembly protein CtaG/Cox11, domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase subunit III domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase subunit III domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Dual oxidase maturation factor Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Dual oxidase maturation factor protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome C oxidase, subunit VIIB, domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome C oxidase, subunit VIIB, domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

ERV/ALR sulfhydryl oxidase domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the ERV/ALR sulfhydryl oxidase domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase subunit IV Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase subunit IV protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Coproporphyrinogen III oxidase, oxygen-independent related Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Coproporphyrinogen III oxidase, oxygen-independent related protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase subunit I Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase subunit I protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase, subunit I domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase, subunit I domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Flavin amine oxidase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Flavin amine oxidase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Lysyl oxidase, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Lysyl oxidase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase subunit VIIc Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase subunit VIIc protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Aldehyde oxidase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Aldehyde oxidase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase, subunit VIa Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase, subunit VIa protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Pyridoxamine 5'-phosphate oxidase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Pyridoxamine 5'-phosphate oxidase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase, subunit III, 4-helical bundle Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase, subunit III, 4-helical bundle protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase, subunit Va/VI Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase, subunit Va/VI protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Coproporphyrinogen III oxidase, aerobic Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Coproporphyrinogen III oxidase, aerobic protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Copper amine oxidase, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Copper amine oxidase, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Galactose oxidase, beta-propeller Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Galactose oxidase, beta-propeller protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase subunit III Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase subunit III protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase, subunit VIa, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase, subunit VIa, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase subunit II C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase subunit II C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase, subunit VIIa Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase, subunit VIIa protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Vanillyl-alcohol oxidase, C-terminal subdomain 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Vanillyl-alcohol oxidase, C-terminal subdomain 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase subunit VIII/photosystem I reaction centre subunit IX Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase subunit VIII/photosystem I reaction centre subunit IX protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Amine oxidase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Amine oxidase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase assembly protein PET191 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase assembly protein PET191 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

FAD-linked oxidase-like, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the FAD-linked oxidase-like, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase, subunit II Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase, subunit II protein domain from the InterPro Predicted Protein Domain Annotations dataset.

D-amino-acid oxidase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the D-amino-acid oxidase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Copper amine oxidase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Copper amine oxidase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Proline oxidase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Proline oxidase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase assembly protein CtaG/Cox11 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase assembly protein CtaG/Cox11 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Dual oxidase 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Dual oxidase 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome C oxidase, subunit VIIB Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome C oxidase, subunit VIIB protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase biogenesis protein Cmc1-like Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase biogenesis protein Cmc1-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase, subunit 8 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase, subunit 8 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Copper amine oxidase, N2-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Copper amine oxidase, N2-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase, subunit Vb, zinc binding site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase, subunit Vb, zinc binding site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase, subunit Vb Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase, subunit Vb protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Synthesis of cytochrome c oxidase, Sco1/Sco2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Synthesis of cytochrome c oxidase, Sco1/Sco2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Prenyltransferase/squalene oxidase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Prenyltransferase/squalene oxidase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Protoporphyrinogen oxidase, C-terminal domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Protoporphyrinogen oxidase, C-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

D-amino acid oxidase, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the D-amino acid oxidase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Coproporphyrinogen III oxidase, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Coproporphyrinogen III oxidase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Copper amine oxidase, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Copper amine oxidase, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Lysyl oxidase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Lysyl oxidase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase assembly protein COX14 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase assembly protein COX14 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase assembly protein COX16 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase assembly protein COX16 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Copper amine oxidase, N3-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Copper amine oxidase, N3-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Multicopper oxidase, copper-binding site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Multicopper oxidase, copper-binding site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Dihydroxyindole-2-carboxylic acid oxidase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Dihydroxyindole-2-carboxylic acid oxidase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

FAD-linked oxidase, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the FAD-linked oxidase, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Galactose oxidase/kelch, beta-propeller Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Galactose oxidase/kelch, beta-propeller protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Prenylcysteine oxidase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Prenylcysteine oxidase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Zinc-finger domain of monoamine-oxidase A repressor R1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Zinc-finger domain of monoamine-oxidase A repressor R1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

NADPH oxidase 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the NADPH oxidase 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

NADPH oxidase 3 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the NADPH oxidase 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

NADPH oxidase 5 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the NADPH oxidase 5 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Multicopper oxidase, type 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Multicopper oxidase, type 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Multicopper oxidase, type 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Multicopper oxidase, type 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Multicopper oxidase, type 3 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Multicopper oxidase, type 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase subunit VIIa-related, mitochondrial Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase subunit VIIa-related, mitochondrial protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase, subunit VIb Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase, subunit VIb protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Sarcosine oxidase, monomeric Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Sarcosine oxidase, monomeric protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase, subunit I, copper-binding site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase, subunit I, copper-binding site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase subunit IV family Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase subunit IV family protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome oxidase assembly protein 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome oxidase assembly protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

D-amino acid oxidase activator Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the D-amino acid oxidase activator protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Dual oxidase 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Dual oxidase 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

oxidase Gene Set

From Phosphosite Textmining Biological Term Annotations

proteins co-occuring with the biological term oxidase in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset.

Amine Oxidase reactions Gene Set

From Reactome Pathways 2014

proteins participating in the Amine Oxidase reactions pathway from the Reactome Pathways dataset.

Enzymatic degradation of Dopamine by monoamine oxidase Gene Set

From Reactome Pathways 2014

proteins participating in the Enzymatic degradation of Dopamine by monoamine oxidase pathway from the Reactome Pathways dataset.

Cytochrome C Oxidase-Negative Muscle Fibers Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Cytochrome C Oxidase-Negative Muscle Fibers in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Decreased Activity Of Nadph Oxidase Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Decreased Activity Of Nadph Oxidase in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

mitochondrial cytochrome c oxidase assembly Gene Set

From GO Biological Process Annotations 2023

genes participating in the mitochondrial cytochrome c oxidase assembly biological process from the curated GO Biological Process Annotations 2023 dataset.

positive regulation of cytochrome-c oxidase activity Gene Set

From GO Biological Process Annotations 2023

genes participating in the positive regulation of cytochrome-c oxidase activity biological process from the curated GO Biological Process Annotations 2023 dataset.

negative regulation of primary amine oxidase activity Gene Set

From GO Biological Process Annotations 2023

genes participating in the negative regulation of primary amine oxidase activity biological process from the curated GO Biological Process Annotations 2023 dataset.

positive regulation of NAD(P)H oxidase activity Gene Set

From GO Biological Process Annotations 2023

genes participating in the positive regulation of NAD(P)H oxidase activity biological process from the curated GO Biological Process Annotations 2023 dataset.

negative regulation of NAD(P)H oxidase activity Gene Set

From GO Biological Process Annotations 2023

genes participating in the negative regulation of NAD(P)H oxidase activity biological process from the curated GO Biological Process Annotations 2023 dataset.

negative regulation of D-amino-acid oxidase activity Gene Set

From GO Biological Process Annotations 2023

genes participating in the negative regulation of D-amino-acid oxidase activity biological process from the curated GO Biological Process Annotations 2023 dataset.

regulation of cytochrome-c oxidase activity Gene Set

From GO Biological Process Annotations 2023

genes participating in the regulation of cytochrome-c oxidase activity biological process from the curated GO Biological Process Annotations 2023 dataset.

regulation of NAD(P)H oxidase activity Gene Set

From GO Biological Process Annotations 2023

genes participating in the regulation of NAD(P)H oxidase activity biological process from the curated GO Biological Process Annotations 2023 dataset.

regulation of D-amino-acid oxidase activity Gene Set

From GO Biological Process Annotations 2023

genes participating in the regulation of D-amino-acid oxidase activity biological process from the curated GO Biological Process Annotations 2023 dataset.

NADPH oxidase complex Gene Set

From GO Cellular Component Annotations 2023

proteins localized to the NADPH oxidase complex cellular component from the curated GO Cellular Component Annotations 2023 dataset.

flavin-linked sulfhydryl oxidase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the flavin-linked sulfhydryl oxidase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

cytochrome-c oxidase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the cytochrome-c oxidase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

NAD(P)H oxidase H2O2-forming activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the NAD(P)H oxidase H2O2-forming activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

primary amine oxidase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the primary amine oxidase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

superoxide-generating NADPH oxidase activator activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the superoxide-generating NADPH oxidase activator activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

superoxide-generating NAD(P)H oxidase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the superoxide-generating NAD(P)H oxidase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

caffeine oxidase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the caffeine oxidase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

thiol oxidase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the thiol oxidase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

D-amino-acid oxidase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the D-amino-acid oxidase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

diamine oxidase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the diamine oxidase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

monoamine oxidase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the monoamine oxidase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

coproporphyrinogen oxidase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the coproporphyrinogen oxidase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

aldehyde oxidase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the aldehyde oxidase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

xanthine oxidase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the xanthine oxidase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

oxygen-dependent protoporphyrinogen oxidase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the oxygen-dependent protoporphyrinogen oxidase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

long-chain-alcohol oxidase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the long-chain-alcohol oxidase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

20-hydroxy-leukotriene B4 omega oxidase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the 20-hydroxy-leukotriene B4 omega oxidase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

methanethiol oxidase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the methanethiol oxidase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

C-4 methylsterol oxidase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the C-4 methylsterol oxidase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

polyamine oxidase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the polyamine oxidase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

15-oxoprostaglandin 13-oxidase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the 15-oxoprostaglandin 13-oxidase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

formylglycine-generating oxidase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the formylglycine-generating oxidase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

L-amino-acid oxidase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the L-amino-acid oxidase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

D-aspartate oxidase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the D-aspartate oxidase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

pyridoxamine-phosphate oxidase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the pyridoxamine-phosphate oxidase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

(S)-2-hydroxy-acid oxidase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the (S)-2-hydroxy-acid oxidase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

sarcosine oxidase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the sarcosine oxidase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

L-pipecolate oxidase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the L-pipecolate oxidase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

prenylcysteine oxidase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the prenylcysteine oxidase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

glyoxylate oxidase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the glyoxylate oxidase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

sulfite oxidase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the sulfite oxidase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

protoporphyrinogen oxidase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the protoporphyrinogen oxidase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

increased NAD(P)H oxidase activity Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased NAD(P)H oxidase activity phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased monoamine oxidase activity Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased monoamine oxidase activity phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

Amine Oxidase reactions Gene Set

From Reactome Pathways 2024

proteins participating in the Amine Oxidase reactions pathway from the Reactome Pathways 2024 dataset.

Enzymatic degradation of Dopamine by monoamine oxidase Gene Set

From Reactome Pathways 2024

proteins participating in the Enzymatic degradation of Dopamine by monoamine oxidase pathway from the Reactome Pathways 2024 dataset.

mitochondrial cytochrome c oxidase assembly Gene Set

From GO Biological Process Annotations 2025

genes participating in the mitochondrial cytochrome c oxidase assembly biological process from the curated GO Biological Process Annotations 2025 dataset.

negative regulation of primary amine oxidase activity Gene Set

From GO Biological Process Annotations 2025

genes participating in the negative regulation of primary amine oxidase activity biological process from the curated GO Biological Process Annotations 2025 dataset.

negative regulation of NAD(P)H oxidase activity Gene Set

From GO Biological Process Annotations 2025

genes participating in the negative regulation of NAD(P)H oxidase activity biological process from the curated GO Biological Process Annotations 2025 dataset.

positive regulation of cytochrome-c oxidase activity Gene Set

From GO Biological Process Annotations 2025

genes participating in the positive regulation of cytochrome-c oxidase activity biological process from the curated GO Biological Process Annotations 2025 dataset.

positive regulation of NAD(P)H oxidase activity Gene Set

From GO Biological Process Annotations 2025

genes participating in the positive regulation of NAD(P)H oxidase activity biological process from the curated GO Biological Process Annotations 2025 dataset.

regulation of cytochrome-c oxidase activity Gene Set

From GO Biological Process Annotations 2025

genes participating in the regulation of cytochrome-c oxidase activity biological process from the curated GO Biological Process Annotations 2025 dataset.

regulation of NAD(P)H oxidase activity Gene Set

From GO Biological Process Annotations 2025

genes participating in the regulation of NAD(P)H oxidase activity biological process from the curated GO Biological Process Annotations 2025 dataset.

NADPH oxidase complex Gene Set

From GO Cellular Component Annotations 2025

proteins localized to the NADPH oxidase complex cellular component from the curated GO Cellular Component Annotations 2025 dataset.

flavin-dependent sulfhydryl oxidase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the flavin-dependent sulfhydryl oxidase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

NAD(P)H oxidase H2O2-forming activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the NAD(P)H oxidase H2O2-forming activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

primary methylamine oxidase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the primary methylamine oxidase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

superoxide-generating NADPH oxidase activator activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the superoxide-generating NADPH oxidase activator activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

superoxide-generating NAD(P)H oxidase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the superoxide-generating NAD(P)H oxidase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

superoxide-generating NADPH oxidase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the superoxide-generating NADPH oxidase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

caffeine oxidase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the caffeine oxidase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

thiol oxidase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the thiol oxidase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

D-amino-acid oxidase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the D-amino-acid oxidase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

putrescine oxidase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the putrescine oxidase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

diamine oxidase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the diamine oxidase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

histamine oxidase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the histamine oxidase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

monoamine oxidase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the monoamine oxidase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

coproporphyrinogen oxidase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the coproporphyrinogen oxidase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

aldehyde oxidase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the aldehyde oxidase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

xanthine oxidase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the xanthine oxidase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

oxygen-dependent protoporphyrinogen oxidase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the oxygen-dependent protoporphyrinogen oxidase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

long-chain-alcohol oxidase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the long-chain-alcohol oxidase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

20-hydroxy-leukotriene B4 omega oxidase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the 20-hydroxy-leukotriene B4 omega oxidase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

methanethiol oxidase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the methanethiol oxidase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

15-oxoprostaglandin 13-oxidase [NAD(P)+] activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the 15-oxoprostaglandin 13-oxidase [NAD(P)+] activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

C-4 methylsterol oxidase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the C-4 methylsterol oxidase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

polyamine oxidase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the polyamine oxidase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

formylglycine-generating oxidase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the formylglycine-generating oxidase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

L-amino-acid oxidase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the L-amino-acid oxidase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

D-aspartate oxidase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the D-aspartate oxidase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

pyridoxamine phosphate oxidase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the pyridoxamine phosphate oxidase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

spermine oxidase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the spermine oxidase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

(S)-2-hydroxy-acid oxidase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the (S)-2-hydroxy-acid oxidase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

sarcosine oxidase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the sarcosine oxidase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

L-pipecolate oxidase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the L-pipecolate oxidase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

prenylcysteine oxidase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the prenylcysteine oxidase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

glyoxylate oxidase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the glyoxylate oxidase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

sulfite oxidase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the sulfite oxidase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

protoporphyrinogen oxidase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the protoporphyrinogen oxidase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

NADPH oxidase complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the NADPH oxidase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

NADPH oxidase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the NADPH oxidase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Glycolate oxidase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Glycolate oxidase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Cytochrome o ubiquinol oxidase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Cytochrome o ubiquinol oxidase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Sarcosine oxidase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Sarcosine oxidase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

MONOAMINE OXIDASE INHIBITOR Gene Set

From DGIdb Drug Targets 2026

interacting proteins for the MONOAMINE OXIDASE INHIBITOR drug from theDGIdb Drug Targets 2026 dataset.

XANTHINE OXIDASE INHIBITOR Gene Set

From DGIdb Drug Targets 2026

interacting proteins for the XANTHINE OXIDASE INHIBITOR drug from theDGIdb Drug Targets 2026 dataset.

Trifunctional protein deficiency with myopathy and neuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Trifunctional protein deficiency with myopathy and neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked ichthyosis with steryl-sulfatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked ichthyosis with steryl-sulfatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Phosphoglycerate dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Phosphoglycerate dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Galactosylceramide beta-galactosidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Galactosylceramide beta-galactosidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Isolated 17,20-lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Isolated 17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Endplate acetylcholinesterase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Endplate acetylcholinesterase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sepiapterin reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sepiapterin reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Methionine adenosyltransferase deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Methionine adenosyltransferase deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase E2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase E2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carbonic anhydrase va deficiency, hyperammonemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carbonic anhydrase va deficiency, hyperammonemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coenzyme Q10 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coenzyme Q10 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of ribose-5-phosphate isomerase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of ribose-5-phosphate isomerase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kininogen deficiency, total Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kininogen deficiency, total phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

6-pyruvoyl-tetrahydropterin synthase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 6-pyruvoyl-tetrahydropterin synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

N-terminal acetyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the N-terminal acetyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 7 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Creatine deficiency, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Creatine deficiency, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Birbeck granule deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Birbeck granule deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glucocorticoid deficiency 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glucocorticoid deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glucocorticoid deficiency 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glucocorticoid deficiency 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

SCID due to ADA deficiency, delayed onset Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the SCID due to ADA deficiency, delayed onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Properdin deficiency, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Properdin deficiency, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

PROPERDIN DEFICIENCY, TYPE II Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the PROPERDIN DEFICIENCY, TYPE II phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement factor d deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement factor d deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia due to protein S deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia due to protein S deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 8 deficiency type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 8 deficiency type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Testosterone 17-beta-dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Testosterone 17-beta-dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebral folate deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebral folate deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Phosphoserine aminotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Phosphoserine aminotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency due to ADA deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carnitine acylcarnitine translocase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carnitine acylcarnitine translocase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Partial hypoxanthine-guanine phosphoribosyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Partial hypoxanthine-guanine phosphoribosyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carnitine palmitoyltransferase I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carnitine palmitoyltransferase I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial complex I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

HNSHA due to aldolase A deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the HNSHA due to aldolase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Platelet-activating factor acetylhydrolase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Platelet-activating factor acetylhydrolase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary C1 esterase inhibitor deficiency - dysfunctional factor Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary C1 esterase inhibitor deficiency - dysfunctional factor phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lipase deficiency combined Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lipase deficiency combined phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

5-Oxoprolinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 5-Oxoprolinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glucocorticoid deficiency with achalasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glucocorticoid deficiency with achalasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Proopiomelanocortin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Proopiomelanocortin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Intrinsic factor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Intrinsic factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

21-hydroxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 21-hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corticosterone methyloxidase type 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corticosterone methyloxidase type 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thiopurine methyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thiopurine methyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

METHYLCOBALAMIN DEFICIENCY, cblG TYPE Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the METHYLCOBALAMIN DEFICIENCY, cblG TYPE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carnitine palmitoyltransferase II deficiency, infantile Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carnitine palmitoyltransferase II deficiency, infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lactate dehydrogenase b deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lactate dehydrogenase b deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 18 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 17 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 16 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 13 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 12 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 11 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Plasminogen deficiency, type I Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Plasminogen deficiency, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Molybdenum cofactor deficiency, complementation group C Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Molybdenum cofactor deficiency, complementation group C phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Molybdenum cofactor deficiency, complementation group B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Molybdenum cofactor deficiency, complementation group B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Molybdenum cofactor deficiency, complementation group A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Molybdenum cofactor deficiency, complementation group A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Biotinidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Biotinidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal dominant isolated somatotropin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal dominant isolated somatotropin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypohidrotic ectodermal dysplasia with immune deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypohidrotic ectodermal dysplasia with immune deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of phosphoserine phosphatase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of phosphoserine phosphatase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Isolated growth hormone deficiency type 1B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Isolated growth hormone deficiency type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Anhidrotic ectodermal dysplasia with immune deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Anhidrotic ectodermal dysplasia with immune deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of hyaluronoglucosaminidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of hyaluronoglucosaminidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Plasminogen activator inhibitor type 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Plasminogen activator inhibitor type 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase phosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase phosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 22 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 22 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 20 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 20 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 21 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 21 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor V deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor V deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adenine phosphoribosyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adenine phosphoribosyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ehlers-Danlos-like syndrome due to tenascin-X deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ehlers-Danlos-like syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glutamate formiminotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glutamate formiminotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypoglycemia with deficiency of glycogen synthetase in the liver Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypoglycemia with deficiency of glycogen synthetase in the liver phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

LEUKOCYTE ADHESION DEFICIENCY, TYPE III Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the LEUKOCYTE ADHESION DEFICIENCY, TYPE III phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Follicle-stimulating hormone deficiency, isolated Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Follicle-stimulating hormone deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ganglioside sialidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ganglioside sialidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

C1q deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the C1q deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Interferon gamma receptor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Interferon gamma receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Platelet glycoprotein IV deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Platelet glycoprotein IV deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

N-acetylaspartate deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the N-acetylaspartate deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adenylosuccinate lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adenylosuccinate lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Triosephosphate isomerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Triosephosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gaucher disease, atypical, due to saposin C deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gaucher disease, atypical, due to saposin C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Aromatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Aromatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary factor II deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary factor II deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial complex III deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial complex III deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor xiii, a subunit, deficiency of Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor xiii, a subunit, deficiency of phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial complex III deficiency, nuclear type 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial complex III deficiency, nuclear type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial complex III deficiency, nuclear type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial complex III deficiency, nuclear type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hemolytic anemia due to hexokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hemolytic anemia due to hexokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leigh syndrome due to mitochondrial complex I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leigh syndrome due to mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple sulfatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple sulfatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corticosteroid-binding globulin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corticosteroid-binding globulin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 15 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corticosterone methyloxidase type 2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corticosterone methyloxidase type 2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 9 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 9 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Holocarboxylase synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Holocarboxylase synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

LIPOPROTEIN(a) DEFICIENCY, CONGENITAL Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the LIPOPROTEIN(a) DEFICIENCY, CONGENITAL phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of glycerate kinase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of glycerate kinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ataxia with vitamin E deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ataxia with vitamin E deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of galactokinase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of galactokinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

ACTH deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the ACTH deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

PROPERDIN DEFICIENCY, TYPE III Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the PROPERDIN DEFICIENCY, TYPE III phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carboxylesterase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carboxylesterase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Purine-nucleoside phosphorylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Purine-nucleoside phosphorylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neonatal intrahepatic cholestasis caused by citrin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neonatal intrahepatic cholestasis caused by citrin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 6 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 6 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Antithrombin III deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Antithrombin III deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Inosine triphosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Inosine triphosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Growth hormone deficiency with pituitary anomalies Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Growth hormone deficiency with pituitary anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase lipoic acid synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase lipoic acid synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ulna and fibula absence of with severe limb deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ulna and fibula absence of with severe limb deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homocysteinemia due to MTHFR deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Homocysteinemia due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of pyrroline-5-carboxylate reductase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of pyrroline-5-carboxylate reductase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immunodeficiency due to ficolin 3 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immunodeficiency due to ficolin 3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sarcosine dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sarcosine dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor v and factor viii, combined deficiency of, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor v and factor viii, combined deficiency of, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Branched-chain ketoacid dehydrogenase kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Branched-chain ketoacid dehydrogenase kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

L-ferritin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the L-ferritin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arginase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arginase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hepatic lipase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hepatic lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor X deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypercarotenemia and vitamin a deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypercarotenemia and vitamin a deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase E3-binding protein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase E3-binding protein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary factor IX deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary factor IX deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alpha-fetoprotein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alpha-fetoprotein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypermethioninemia due to adenosine kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypermethioninemia due to adenosine kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Vitamin k-dependent clotting factors, combined deficiency of, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Vitamin k-dependent clotting factors, combined deficiency of, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of iodide peroxidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of iodide peroxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glycosylphosphatidylinositol deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glycosylphosphatidylinositol deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Vitamin k-dependent clotting factors, combined deficiency of, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Vitamin k-dependent clotting factors, combined deficiency of, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leukocyte adhesion deficiency type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leukocyte adhesion deficiency type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital lactase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital lactase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Caspase-8 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Caspase-8 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Phosphoglycerate kinase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Phosphoglycerate kinase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Anaphylotoxin inactivator deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Anaphylotoxin inactivator deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Enterokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Enterokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coenzyme Q10 deficiency, primary, 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coenzyme Q10 deficiency, primary, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coenzyme Q10 deficiency, primary, 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coenzyme Q10 deficiency, primary, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coenzyme Q10 deficiency, primary, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coenzyme Q10 deficiency, primary, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coenzyme Q10 deficiency, primary, 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coenzyme Q10 deficiency, primary, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Erythrocyte amp deaminase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Erythrocyte amp deaminase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor VII deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor VII deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal dominant CD11C+/CD1C+ dendritic cell deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal dominant CD11C+/CD1C+ dendritic cell deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Apolipoprotein a-i deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Apolipoprotein a-i deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glut1 deficiency syndrome 1, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glut1 deficiency syndrome 1, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gamma-aminobutyric acid transaminase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gamma-aminobutyric acid transaminase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myeloperoxidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myeloperoxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial phosphate carrier deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial phosphate carrier deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary factor XI deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary factor XI deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Porphobilinogen synthase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Porphobilinogen synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

IRAK4 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the IRAK4 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leukocyte adhesion deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leukocyte adhesion deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Muscular dystrophy, congenital, due to ITGA7 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Muscular dystrophy, congenital, due to ITGA7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cortisone reductase deficiency 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cortisone reductase deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arginine:glycine amidinotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arginine:glycine amidinotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Methionine adenosyltransferase deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Methionine adenosyltransferase deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Muscle AMP deaminase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Muscle AMP deaminase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dihydropyrimidinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dihydropyrimidinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dimethylglycine dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dimethylglycine dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Monocyte and dendritic cell deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Monocyte and dendritic cell deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase E1-alpha deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase E1-alpha deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cd59 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cd59 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ornithine aminotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ornithine aminotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sphingolipid activator protein 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sphingolipid activator protein 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of ferroxidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of ferroxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of steroid 11-beta-monooxygenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of steroid 11-beta-monooxygenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lysosomal acid lipase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lysosomal acid lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dopamine beta hydroxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dopamine beta hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Butyrylcholinesterase deficiency, fluoride-resistant, japanese type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Butyrylcholinesterase deficiency, fluoride-resistant, japanese type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

UDPglucose-4-epimerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the UDPglucose-4-epimerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homocystinuria due to MTHFR deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Homocystinuria due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of alpha-mannosidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of alpha-mannosidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Insulin-like growth factor I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Insulin-like growth factor I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leigh syndrome due to mitochondrial complex II deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leigh syndrome due to mitochondrial complex II deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate carboxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate carboxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gluthathione synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gluthathione synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fumarase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fumarase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of transaldolase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of transaldolase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial pyruvate carrier deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial pyruvate carrier deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase E1-beta deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase E1-beta deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MASP2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MASP2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Argininosuccinate lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Argininosuccinate lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Prekallikrein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Prekallikrein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Chitotriosidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Chitotriosidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Anti-plasmin deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Anti-plasmin deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Prothrombin deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Prothrombin deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial trifunctional protein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial trifunctional protein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

GTP cyclohydrolase I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the GTP cyclohydrolase I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3 beta-Hydroxysteroid dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3 beta-Hydroxysteroid dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Succinate-semialdehyde dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Succinate-semialdehyde dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked agammaglobulinemia with growth hormone deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked agammaglobulinemia with growth hormone deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Okt4 epitope deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Okt4 epitope deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial complex II deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial complex II deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mineralocorticoid deficiency, isolated Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mineralocorticoid deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement 1s deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement 1s deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dihydropteridine reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dihydropteridine reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mannose-binding protein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mannose-binding protein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glucose transporter type 1 deficiency syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glucose transporter type 1 deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myd88 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myd88 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cd8 deficiency, familial Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cd8 deficiency, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy due to partial LAMA2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy due to partial LAMA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Acid-labile subunit deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Acid-labile subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fructose-biphosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fructose-biphosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Megaloblastic anemia due to dihydrofolate reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Megaloblastic anemia due to dihydrofolate reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement factor B deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement factor B deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Obesity, severe, due to leptin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Obesity, severe, due to leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary factor VIII deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary factor VIII deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Proline dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Proline dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor H deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor H deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glutamine deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glutamine deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of aromatic-L-amino-acid decarboxylase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of aromatic-L-amino-acid decarboxylase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glycine N-methyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glycine N-methyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ornithine carbamoyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ornithine carbamoyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sucrase-isomaltase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sucrase-isomaltase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cholesterol monooxygenase (side-chain cleaving) deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cholesterol monooxygenase (side-chain cleaving) deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fucosyltransferase 6 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fucosyltransferase 6 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Asparagine synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Asparagine synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adenylate kinase deficiency, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adenylate kinase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined, 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined, 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of butyrylcholine esterase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of butyrylcholine esterase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Protein S deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Protein S deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of glycerol kinase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of glycerol kinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Urocanate hydratase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Urocanate hydratase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

4-Hydroxyphenylpyruvate dioxygenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 4-Hydroxyphenylpyruvate dioxygenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined deficiency of factor V and factor VIII, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined deficiency of factor V and factor VIII, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor xiii, b subunit, deficiency of Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor xiii, b subunit, deficiency of phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Growth deficiency and mental retardation with facial dysmorphism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Growth deficiency and mental retardation with facial dysmorphism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined deficiency of sialidase AND beta galactosidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined deficiency of sialidase AND beta galactosidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of (R)-20-hydroxysteroid dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of (R)-20-hydroxysteroid dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Prolidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Prolidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of beta-ureidopropionase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of beta-ureidopropionase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of guanidinoacetate methyltransferase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of guanidinoacetate methyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MYD88 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MYD88 Deficiency from the curated CTD Gene-Disease Associations dataset.

Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal from the curated CTD Gene-Disease Associations dataset.

Anemia, Iron-Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anemia, Iron-Deficiency from the curated CTD Gene-Disease Associations dataset.

Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital adrenal hyperplasia due to 21 hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Platelet Glycoprotein IV Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Platelet Glycoprotein IV Deficiency from the curated CTD Gene-Disease Associations dataset.

Mitochondrial Phosphate Carrier Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mitochondrial Phosphate Carrier Deficiency from the curated CTD Gene-Disease Associations dataset.

Leukocyte Adhesion Deficiency, Type III Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leukocyte Adhesion Deficiency, Type III from the curated CTD Gene-Disease Associations dataset.

Prekallikrein Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Prekallikrein Deficiency from the curated CTD Gene-Disease Associations dataset.

Methylenetetrahydrofolate reductase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylenetetrahydrofolate reductase deficiency from the curated CTD Gene-Disease Associations dataset.

6-pyruvoyl-tetrahydropterin synthase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 6-pyruvoyl-tetrahydropterin synthase deficiency from the curated CTD Gene-Disease Associations dataset.

Factor XI Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor XI Deficiency from the curated CTD Gene-Disease Associations dataset.

Carnitine palmitoyl transferase 1A deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carnitine palmitoyl transferase 1A deficiency from the curated CTD Gene-Disease Associations dataset.

Preaxial deficiency, postaxial polydactyly and hypospadias Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Preaxial deficiency, postaxial polydactyly and hypospadias from the curated CTD Gene-Disease Associations dataset.

THYROTROPIN-RELEASING HORMONE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THYROTROPIN-RELEASING HORMONE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Carbamoyl-Phosphate Synthase I Deficiency Disease Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carbamoyl-Phosphate Synthase I Deficiency Disease from the curated CTD Gene-Disease Associations dataset.

Tyrosine Kinase 2 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Tyrosine Kinase 2 Deficiency from the curated CTD Gene-Disease Associations dataset.

Properdin deficiency, X-linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Properdin deficiency, X-linked from the curated CTD Gene-Disease Associations dataset.

COENZYME Q10 DEFICIENCY, PRIMARY, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COENZYME Q10 DEFICIENCY, PRIMARY, 1 from the curated CTD Gene-Disease Associations dataset.

Glutathione synthetase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glutathione synthetase deficiency from the curated CTD Gene-Disease Associations dataset.

Glucocorticoid Deficiency 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glucocorticoid Deficiency 2 from the curated CTD Gene-Disease Associations dataset.

Aniridia cerebellar ataxia mental deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Aniridia cerebellar ataxia mental deficiency from the curated CTD Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 3 from the curated CTD Gene-Disease Associations dataset.

Proopiomelanocortin Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Proopiomelanocortin Deficiency from the curated CTD Gene-Disease Associations dataset.

HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Glucocorticoid Deficiency 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glucocorticoid Deficiency 3 from the curated CTD Gene-Disease Associations dataset.

Intrinsic Factor Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Intrinsic Factor Deficiency from the curated CTD Gene-Disease Associations dataset.

Adenosine monophosphate deaminase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Adenosine monophosphate deaminase deficiency from the curated CTD Gene-Disease Associations dataset.

alpha 1-Antitrypsin Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease alpha 1-Antitrypsin Deficiency from the curated CTD Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 2 from the curated CTD Gene-Disease Associations dataset.

Plasminogen Deficiency, Type I Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Plasminogen Deficiency, Type I from the curated CTD Gene-Disease Associations dataset.

IgA Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease IgA Deficiency from the curated CTD Gene-Disease Associations dataset.

Lipase deficiency combined Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lipase deficiency combined from the curated CTD Gene-Disease Associations dataset.

Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.

DNA Repair-Deficiency Disorders Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DNA Repair-Deficiency Disorders from the curated CTD Gene-Disease Associations dataset.

Congenital thrombotic disease, due to Protein C deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital thrombotic disease, due to Protein C deficiency from the curated CTD Gene-Disease Associations dataset.

Enterokinase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Enterokinase Deficiency from the curated CTD Gene-Disease Associations dataset.

Carnitine Palmitoyltransferase II Deficiency, Late-Onset Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Late-Onset from the curated CTD Gene-Disease Associations dataset.

Lactase Deficiency, Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lactase Deficiency, Congenital from the curated CTD Gene-Disease Associations dataset.

Lecithin Acyltransferase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lecithin Acyltransferase Deficiency from the curated CTD Gene-Disease Associations dataset.

Interleukin 2 Receptor, Alpha, Deficiency of Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Interleukin 2 Receptor, Alpha, Deficiency of from the curated CTD Gene-Disease Associations dataset.

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO from the curated CTD Gene-Disease Associations dataset.

Beta ketothiolase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Beta ketothiolase deficiency from the curated CTD Gene-Disease Associations dataset.

Transaldolase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Transaldolase Deficiency from the curated CTD Gene-Disease Associations dataset.

Anti-plasmin deficiency, congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anti-plasmin deficiency, congenital from the curated CTD Gene-Disease Associations dataset.

CD8 Deficiency, Familial Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CD8 Deficiency, Familial from the curated CTD Gene-Disease Associations dataset.

Neuraminidase 1 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuraminidase 1 deficiency from the curated CTD Gene-Disease Associations dataset.

Folic Acid Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Folic Acid Deficiency from the curated CTD Gene-Disease Associations dataset.

Lysosomal acid lipase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lysosomal acid lipase deficiency from the curated CTD Gene-Disease Associations dataset.

Adenylate Kinase Deficiency, Hemolytic Anemia Due To Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Adenylate Kinase Deficiency, Hemolytic Anemia Due To from the curated CTD Gene-Disease Associations dataset.

Vitamin B 12 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Vitamin B 12 Deficiency from the curated CTD Gene-Disease Associations dataset.

Isolated Growth Hormone Deficiency, Type II Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Isolated Growth Hormone Deficiency, Type II from the curated CTD Gene-Disease Associations dataset.

Neurodegeneration Due To Cerebral Folate Transport Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neurodegeneration Due To Cerebral Folate Transport Deficiency from the curated CTD Gene-Disease Associations dataset.

Familial HDL deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Familial HDL deficiency from the curated CTD Gene-Disease Associations dataset.

Carnitine-Acylcarnitine Translocase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carnitine-Acylcarnitine Translocase Deficiency from the curated CTD Gene-Disease Associations dataset.

Trifunctional Protein Deficiency With Myopathy And Neuropathy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Trifunctional Protein Deficiency With Myopathy And Neuropathy from the curated CTD Gene-Disease Associations dataset.

Methylcobalamin Deficiency, CblG Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylcobalamin Deficiency, CblG Type from the curated CTD Gene-Disease Associations dataset.

Flaujeac factor deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Flaujeac factor deficiency from the curated CTD Gene-Disease Associations dataset.

Ribose 5-Phosphate Isomerase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ribose 5-Phosphate Isomerase Deficiency from the curated CTD Gene-Disease Associations dataset.

Pyruvate dehydrogenase phosphatase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate dehydrogenase phosphatase deficiency from the curated CTD Gene-Disease Associations dataset.

VLCAD deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease VLCAD deficiency from the curated CTD Gene-Disease Associations dataset.

18-Hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 18-Hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Creatine deficiency, X-linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Creatine deficiency, X-linked from the curated CTD Gene-Disease Associations dataset.

Mitochondrial Complex III Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mitochondrial Complex III Deficiency from the curated CTD Gene-Disease Associations dataset.

PROPROTEIN CONVERTASE 1/3 DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PROPROTEIN CONVERTASE 1/3 DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

dopamine beta hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease dopamine beta hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Ehlers-Danlos syndrome caused by tenascin-X deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ehlers-Danlos syndrome caused by tenascin-X deficiency from the curated CTD Gene-Disease Associations dataset.

Growth mental deficiency syndrome of Myhre Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Growth mental deficiency syndrome of Myhre from the curated CTD Gene-Disease Associations dataset.

Split-Hand/Foot Malformation With Long Bone Deficiency 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Split-Hand/Foot Malformation With Long Bone Deficiency 2 from the curated CTD Gene-Disease Associations dataset.

Ornithine Carbamoyltransferase Deficiency Disease Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ornithine Carbamoyltransferase Deficiency Disease from the curated CTD Gene-Disease Associations dataset.

Protein Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Protein Deficiency from the curated CTD Gene-Disease Associations dataset.

Factor 8 deficiency, acquired Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor 8 deficiency, acquired from the curated CTD Gene-Disease Associations dataset.

COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I from the curated CTD Gene-Disease Associations dataset.

Adenylosuccinate lyase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Adenylosuccinate lyase deficiency from the curated CTD Gene-Disease Associations dataset.

THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

Thiopurine S methyltranferase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thiopurine S methyltranferase deficiency from the curated CTD Gene-Disease Associations dataset.

Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency from the curated CTD Gene-Disease Associations dataset.

Isolated Growth Hormone Deficiency, Type IB Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Isolated Growth Hormone Deficiency, Type IB from the curated CTD Gene-Disease Associations dataset.

Vitamin A Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Vitamin A Deficiency from the curated CTD Gene-Disease Associations dataset.

Molybdenum cofactor deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Molybdenum cofactor deficiency from the curated CTD Gene-Disease Associations dataset.

Split-Hand/Foot Malformation With Long Bone Deficiency 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Split-Hand/Foot Malformation With Long Bone Deficiency 3 from the curated CTD Gene-Disease Associations dataset.

Phosphoglycerate Kinase 1 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Phosphoglycerate Kinase 1 Deficiency from the curated CTD Gene-Disease Associations dataset.

COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II from the curated CTD Gene-Disease Associations dataset.

Severe combined immunodeficiency due to adenosine deaminase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe combined immunodeficiency due to adenosine deaminase deficiency from the curated CTD Gene-Disease Associations dataset.

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 from the curated CTD Gene-Disease Associations dataset.

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 from the curated CTD Gene-Disease Associations dataset.

Plasminogen Activator Inhibitor-1 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Plasminogen Activator Inhibitor-1 Deficiency from the curated CTD Gene-Disease Associations dataset.

Pyruvate Dehydrogenase E2 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate Dehydrogenase E2 Deficiency from the curated CTD Gene-Disease Associations dataset.

Phosphoglycerate Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Phosphoglycerate Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

Vitamin D Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Vitamin D Deficiency from the curated CTD Gene-Disease Associations dataset.

Factor V Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor V Deficiency from the curated CTD Gene-Disease Associations dataset.

Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.

Pyruvate Dehydrogenase Complex Deficiency Disease Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate Dehydrogenase Complex Deficiency Disease from the curated CTD Gene-Disease Associations dataset.

Ataxia with vitamin E deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ataxia with vitamin E deficiency from the curated CTD Gene-Disease Associations dataset.

Aromatic amino acid decarboxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Aromatic amino acid decarboxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Factor X Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor X Deficiency from the curated CTD Gene-Disease Associations dataset.

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 from the curated CTD Gene-Disease Associations dataset.

Holocarboxylase Synthetase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Holocarboxylase Synthetase Deficiency from the curated CTD Gene-Disease Associations dataset.

N-acetyl glutamate synthetase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease N-acetyl glutamate synthetase deficiency from the curated CTD Gene-Disease Associations dataset.

Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 from the curated CTD Gene-Disease Associations dataset.

Dimethylglycine Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Dimethylglycine Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

Pituitary Hormone Deficiency, Combined, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 1 from the curated CTD Gene-Disease Associations dataset.

Pituitary Hormone Deficiency, Combined, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 2 from the curated CTD Gene-Disease Associations dataset.

Trehalase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Trehalase Deficiency from the curated CTD Gene-Disease Associations dataset.

Guanidinoacetate methyltransferase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Guanidinoacetate methyltransferase deficiency from the curated CTD Gene-Disease Associations dataset.

Aminoacylase 1 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Aminoacylase 1 deficiency from the curated CTD Gene-Disease Associations dataset.

Antithrombin III Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Antithrombin III Deficiency from the curated CTD Gene-Disease Associations dataset.

Phosphoenolpyruvate carboxykinase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Phosphoenolpyruvate carboxykinase deficiency from the curated CTD Gene-Disease Associations dataset.

17-Hydroxysteroid Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 17-Hydroxysteroid Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

Heparin Cofactor II Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Heparin Cofactor II Deficiency from the curated CTD Gene-Disease Associations dataset.

D-BIFUNCTIONAL PROTEIN DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease D-BIFUNCTIONAL PROTEIN DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 from the curated CTD Gene-Disease Associations dataset.

Arginine:Glycine Amidinotransferase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arginine:Glycine Amidinotransferase Deficiency from the curated CTD Gene-Disease Associations dataset.

Biotinidase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Biotinidase Deficiency from the curated CTD Gene-Disease Associations dataset.

COMPLEMENT COMPONENT C1r/C1s DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMPLEMENT COMPONENT C1r/C1s DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Methionine Adenosyltransferase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methionine Adenosyltransferase Deficiency from the curated CTD Gene-Disease Associations dataset.

Phosphoenolpyruvate carboxykinase 2 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Phosphoenolpyruvate carboxykinase 2 deficiency from the curated CTD Gene-Disease Associations dataset.

Glycine N-Methyltransferase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glycine N-Methyltransferase Deficiency from the curated CTD Gene-Disease Associations dataset.

Krabbe Disease, Atypical, due to Saposin A Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Krabbe Disease, Atypical, due to Saposin A Deficiency from the curated CTD Gene-Disease Associations dataset.

Magnesium Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Magnesium Deficiency from the curated CTD Gene-Disease Associations dataset.

Glycosylphosphatidylinositol deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glycosylphosphatidylinositol deficiency from the curated CTD Gene-Disease Associations dataset.

Factor Xiii, A Subunit, Deficiency Of Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor Xiii, A Subunit, Deficiency Of from the curated CTD Gene-Disease Associations dataset.

Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency from the curated CTD Gene-Disease Associations dataset.

Leukocyte adhesion deficiency type 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leukocyte adhesion deficiency type 1 from the curated CTD Gene-Disease Associations dataset.

Dihydropyrimidine Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Dihydropyrimidine Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

Corticosteroid-Binding Globulin Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corticosteroid-Binding Globulin Deficiency from the curated CTD Gene-Disease Associations dataset.

Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency from the curated CTD Gene-Disease Associations dataset.

ACTH Deficiency, Isolated Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ACTH Deficiency, Isolated from the curated CTD Gene-Disease Associations dataset.

Factor XIII, B Subunit, Deficiency Of Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor XIII, B Subunit, Deficiency Of from the curated CTD Gene-Disease Associations dataset.

Gaucher Disease, Atypical, Due To Saposin C Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Gaucher Disease, Atypical, Due To Saposin C Deficiency from the curated CTD Gene-Disease Associations dataset.

GLUT1 DEFICIENCY SYNDROME 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease GLUT1 DEFICIENCY SYNDROME 2 from the curated CTD Gene-Disease Associations dataset.

Iron-Refractory Iron Deficiency Anemia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Iron-Refractory Iron Deficiency Anemia from the curated CTD Gene-Disease Associations dataset.

Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.

Specific Granule Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Specific Granule Deficiency from the curated CTD Gene-Disease Associations dataset.

Insulin-Like Growth Factor I Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Insulin-Like Growth Factor I Deficiency from the curated CTD Gene-Disease Associations dataset.

Complement component 5 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Complement component 5 deficiency from the curated CTD Gene-Disease Associations dataset.

Complement Component 7 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Complement Component 7 Deficiency from the curated CTD Gene-Disease Associations dataset.

Lactate dehydrogenase deficiency type A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lactate dehydrogenase deficiency type A from the curated CTD Gene-Disease Associations dataset.

Pyruvate Dehydrogenase E3-Binding Protein Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate Dehydrogenase E3-Binding Protein Deficiency from the curated CTD Gene-Disease Associations dataset.

Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked from the curated CTD Gene-Disease Associations dataset.

Cortisone reductase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cortisone reductase deficiency from the curated CTD Gene-Disease Associations dataset.

NADH cytochrome B5 reductase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NADH cytochrome B5 reductase deficiency from the curated CTD Gene-Disease Associations dataset.

3b-Hydroxysteroid Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3b-Hydroxysteroid Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

Thiamine Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thiamine Deficiency from the curated CTD Gene-Disease Associations dataset.

Mitochondrial Complex II Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mitochondrial Complex II Deficiency from the curated CTD Gene-Disease Associations dataset.

Sucrase-isomaltase deficiency, congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Sucrase-isomaltase deficiency, congenital from the curated CTD Gene-Disease Associations dataset.

Systemic carnitine deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Systemic carnitine deficiency from the curated CTD Gene-Disease Associations dataset.

Gamma-cystathionase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Gamma-cystathionase deficiency from the curated CTD Gene-Disease Associations dataset.

Pituitary Hormone Deficiency, Combined, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 4 from the curated CTD Gene-Disease Associations dataset.

Combined Saposin Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Saposin Deficiency from the curated CTD Gene-Disease Associations dataset.

Radial Ray Deficiency, X-Linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Radial Ray Deficiency, X-Linked from the curated CTD Gene-Disease Associations dataset.

Beta-Ureidopropionase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Beta-Ureidopropionase Deficiency from the curated CTD Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 1 from the curated CTD Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 5 from the curated CTD Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 4 from the curated CTD Gene-Disease Associations dataset.

Protein C Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Protein C Deficiency from the curated CTD Gene-Disease Associations dataset.

succinic semialdehyde dehydrogenase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease succinic semialdehyde dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset.

Carboxypeptidase N Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carboxypeptidase N Deficiency from the curated CTD Gene-Disease Associations dataset.

Purine Nucleoside Phosphorylase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Purine Nucleoside Phosphorylase Deficiency from the curated CTD Gene-Disease Associations dataset.

Complement Component 4, Partial Deficiency Of Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Complement Component 4, Partial Deficiency Of from the curated CTD Gene-Disease Associations dataset.

Familial Glucocorticoid Deficiency 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Familial Glucocorticoid Deficiency 1 from the curated CTD Gene-Disease Associations dataset.

Endplate Acetylcholinesterase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Endplate Acetylcholinesterase Deficiency from the curated CTD Gene-Disease Associations dataset.

Factor XIII Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor XIII Deficiency from the curated CTD Gene-Disease Associations dataset.

NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT from the curated CTD Gene-Disease Associations dataset.

THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Fructose-1,6-Diphosphatase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Fructose-1,6-Diphosphatase Deficiency from the curated CTD Gene-Disease Associations dataset.

MASP2 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MASP2 Deficiency from the curated CTD Gene-Disease Associations dataset.

Alpha-ketoglutarate dehydrogenase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Alpha-ketoglutarate dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset.

Complement Factor H Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Complement Factor H Deficiency from the curated CTD Gene-Disease Associations dataset.

VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 from the curated CTD Gene-Disease Associations dataset.

COMPLEMENT COMPONENT 2 DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMPLEMENT COMPONENT 2 DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

TRANSCOBALAMIN II DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease TRANSCOBALAMIN II DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Prolidase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Prolidase Deficiency from the curated CTD Gene-Disease Associations dataset.

Leukocyte-Adhesion Deficiency Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leukocyte-Adhesion Deficiency Syndrome from the curated CTD Gene-Disease Associations dataset.

Dihydropyrimidinase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Dihydropyrimidinase Deficiency from the curated CTD Gene-Disease Associations dataset.

Deficiency Diseases Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deficiency Diseases from the curated CTD Gene-Disease Associations dataset.

BISPHOSPHOGLYCERATE MUTASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease BISPHOSPHOGLYCERATE MUTASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Vitamin E Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Vitamin E Deficiency from the curated CTD Gene-Disease Associations dataset.

PROTHROMBIN DEFICIENCY, CONGENITAL Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PROTHROMBIN DEFICIENCY, CONGENITAL from the curated CTD Gene-Disease Associations dataset.

Carnitine Palmitoyltransferase II Deficiency, Infantile Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Infantile from the curated CTD Gene-Disease Associations dataset.

CD59 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CD59 Deficiency from the curated CTD Gene-Disease Associations dataset.

Myeloperoxidase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myeloperoxidase Deficiency from the curated CTD Gene-Disease Associations dataset.

Mevalonate Kinase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mevalonate Kinase Deficiency from the curated CTD Gene-Disease Associations dataset.

Complement Factor I Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Complement Factor I Deficiency from the curated CTD Gene-Disease Associations dataset.

Hyaluronidase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hyaluronidase Deficiency from the curated CTD Gene-Disease Associations dataset.

Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Multiple Sulfatase Deficiency Disease Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Multiple Sulfatase Deficiency Disease from the curated CTD Gene-Disease Associations dataset.

Lysosomal beta-mannosidase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lysosomal beta-mannosidase deficiency from the curated CTD Gene-Disease Associations dataset.

Familial apoceruloplasmin deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Familial apoceruloplasmin deficiency from the curated CTD Gene-Disease Associations dataset.

Metachromatic Leukodystrophy due to Saposin B Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Metachromatic Leukodystrophy due to Saposin B Deficiency from the curated CTD Gene-Disease Associations dataset.

Glutamine deficiency, congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glutamine deficiency, congenital from the curated CTD Gene-Disease Associations dataset.

Pyruvate Kinase Deficiency of Red Cells Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate Kinase Deficiency of Red Cells from the curated CTD Gene-Disease Associations dataset.

Factor VII Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor VII Deficiency from the curated CTD Gene-Disease Associations dataset.

MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

IRAK4 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease IRAK4 Deficiency from the curated CTD Gene-Disease Associations dataset.

Butyrylcholinesterase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Butyrylcholinesterase deficiency from the curated CTD Gene-Disease Associations dataset.

Gamma aminobutyric acid transaminase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Gamma aminobutyric acid transaminase deficiency from the curated CTD Gene-Disease Associations dataset.

Pyruvate Carboxylase Deficiency Disease Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate Carboxylase Deficiency Disease from the curated CTD Gene-Disease Associations dataset.

Complement Component 6 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Complement Component 6 Deficiency from the curated CTD Gene-Disease Associations dataset.

Glutamate formiminotransferase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glutamate formiminotransferase deficiency from the curated CTD Gene-Disease Associations dataset.

Factor XII Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor XII Deficiency from the curated CTD Gene-Disease Associations dataset.

Aromatase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Aromatase deficiency from the curated CTD Gene-Disease Associations dataset.

Urocanase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Urocanase deficiency from the curated CTD Gene-Disease Associations dataset.

Phosphoserine Aminotransferase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Phosphoserine Aminotransferase Deficiency from the curated CTD Gene-Disease Associations dataset.

Ectodermal dysplasia, hypohidrotic, with immune deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal dysplasia, hypohidrotic, with immune deficiency from the curated CTD Gene-Disease Associations dataset.

Immunoglobulin a deficiency 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immunoglobulin a deficiency 2 from the curated CTD Gene-Disease Associations dataset.

Immunoglobulin a deficiency 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immunoglobulin a deficiency 1 from the curated CTD Gene-Disease Associations dataset.

HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Glucosephosphate Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glucosephosphate Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

Mitochondrial complex I deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mitochondrial complex I deficiency from the curated CTD Gene-Disease Associations dataset.

Follicle-stimulating hormone deficiency, isolated Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Follicle-stimulating hormone deficiency, isolated from the curated CTD Gene-Disease Associations dataset.

Split-hand/foot malformation with long bone deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Split-hand/foot malformation with long bone deficiency from the curated CTD Gene-Disease Associations dataset.

Immunologic Deficiency Syndromes Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immunologic Deficiency Syndromes from the curated CTD Gene-Disease Associations dataset.

protein s deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease protein s deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

systemic primary carnitine deficiency disease Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease systemic primary carnitine deficiency disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

purine nucleoside phosphorylase deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease purine nucleoside phosphorylase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

alpha 1-antitrypsin deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease alpha 1-antitrypsin deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

holocarboxylase synthetase deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease holocarboxylase synthetase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

gamma chain deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease gamma chain deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

pyruvate decarboxylase deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease pyruvate decarboxylase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

serine deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease serine deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

cerebral creatine deficiency syndrome Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease cerebral creatine deficiency syndrome from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

complement deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease complement deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

agat deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease agat deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.