Name

ODPF Gene

Osseous dysplasia, digital, with facial pigmentary defects and multiple frenula

SRMS Gene

src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites

Enables protein tyrosine kinase activity. Involved in peptidyl-tyrosine autophosphorylation and positive regulation of TORC1 signaling. Located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

XNDC1N Gene

XRCC1 N-terminal domain containing 1, N-terminal like

Predicted to enable damaged DNA binding activity. Predicted to be involved in single strand break repair. Located in chromosome and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

KPLCE Gene

KPRP N-terminal and LCE C-terminal like protein

Predicted to be involved in epidermis development. [provided by Alliance of Genome Resources, Mar 2025]

DMRTB1 Gene

DMRT-like family B with proline-rich C-terminal, 1

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in germ cell development; regulation of transcription by RNA polymerase II; and sex differentiation. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

FTCDNL1 Gene

formiminotransferase cyclodeaminase N-terminal like

Predicted to enable folic acid binding activity and transferase activity. Located in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Mar 2025]

BRIP1 Gene

BRCA1 interacting protein C-terminal helicase 1

The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq, Jul 2008]

CITED1 Gene

Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1

This gene encodes a member of the CREB-binding protein/p300-interacting transactivator with Asp/Glu-rich C-terminal domain (CITED) family of proteins. The encoded protein, also known as melanocyte-specific gene 1, may function as a transcriptional coactivator and may play a role in pigmentation of melanocytes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]

CITED4 Gene

Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 4

The protein encoded by this intronless gene belongs to the CITED family of transcriptional coactivators that bind to several proteins, including CREB-binding protein (CBP) and p300, via a conserved 32 aa C-terminal motif, and regulate gene transcription. This protein also interacts with transcription factor AP2 (TFAP2), and thus may function as a co-activator for TFAP2. Hypermethylation and transcriptional downregulation of this gene has been observed in oligodendroglial tumors with deletions of chromosomal arms 1p and 19q, and associated with longer recurrence-free and overall survival of patients with oligodendroglial tumors. [provided by RefSeq, Aug 2011]

LOC101929101 Gene

carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2 pseudogene

LOC100421100 Gene

RNA terminal phosphate cyclase-like 1 pseudogene

RBBP8NL Gene

RBBP8 N-terminal like

Located in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

USP17L Gene

ubiquitin carboxyl-terminal hydrolase 17-like protein

AES Gene

amino-terminal enhancer of split

The protein encoded by this gene is similar in sequence to the amino terminus of Drosophila enhancer of split groucho, a protein involved in neurogenesis during embryonic development. The encoded protein, which belongs to the groucho/TLE family of proteins, can function as a homooligomer or as a heteroologimer with other family members to dominantly repress the expression of other family member genes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

STARD3NL Gene

STARD3 N-terminal like

This gene encodes a late-endosomal protein that contains a conserved MENTAL (MLN64 N-terminal) domain. The encoded protein binds cholesterol molecules and may play a role in endosomal cholesterol transport through interactions with metastatic lymph node protein 64 (MLN64). [provided by RefSeq, Sep 2011]

USP6NL Gene

USP6 N-terminal like

Enables GTPase activator activity and small GTPase binding activity. Involved in several processes, including plasma membrane to endosome transport; positive regulation of GTPase activity; and retrograde transport, plasma membrane to Golgi. Located in cytoplasmic vesicle and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

CWH43 Gene

cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)

Predicted to be involved in GPI anchor biosynthetic process. Predicted to act upstream of or within several processes, including cerebrospinal fluid circulation; establishment of protein localization; and protein N-linked glycosylation. Predicted to be located in extracellular region and membrane. Predicted to be active in endoplasmic reticulum. [provided by Alliance of Genome Resources, Mar 2025]

CNTD1 Gene

cyclin N-terminal domain containing 1

Predicted to be involved in reciprocal meiotic recombination and regulation of meiotic cell cycle. Predicted to act upstream of or within spermatogenesis. Predicted to be located in chromosome. Predicted to be active in site of double-strand break. [provided by Alliance of Genome Resources, Mar 2025]

CNTD2 Gene

cyclin N-terminal domain containing 2

Predicted to enable cyclin-dependent protein serine/threonine kinase regulator activity. Predicted to be involved in G1/S transition of mitotic cell cycle. Located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

BAP1 Gene

BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)

This gene belongs to the ubiquitin C-terminal hydrolase subfamily of deubiquitinating enzymes that are involved in the removal of ubiquitin from proteins. The encoded enzyme binds to the breast cancer type 1 susceptibility protein (BRCA1) via the RING finger domain of the latter and acts as a tumor suppressor. In addition, the enzyme may be involved in regulation of transcription, regulation of cell cycle and growth, response to DNA damage and chromatin dynamics. Germline mutations in this gene may be associated with tumor predisposition syndrome (TPDS), which involves increased risk of cancers including malignant mesothelioma, uveal melanoma and cutaneous melanoma. [provided by RefSeq, May 2013]

ALS2CL Gene

ALS2 C-terminal like

Predicted to enable guanyl-nucleotide exchange factor activity and small GTPase binding activity. Predicted to be involved in endosomal transport. Predicted to act upstream of or within protein localization. Predicted to be located in cytosol. Predicted to be active in cytoplasmic vesicle. [provided by Alliance of Genome Resources, Mar 2025]

LOC102724658 Gene

C-terminal-binding protein 2 pseudogene

TCEANC2 Gene

transcription elongation factor A (SII) N-terminal and central domain containing 2

Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

CTTNBP2NL Gene

CTTNBP2 N-terminal like

Enables protein phosphatase 2A binding activity. Acts upstream of or within negative regulation of transmembrane transport; negative regulation of transporter activity; and protein dephosphorylation. Located in actin cytoskeleton. Part of FAR/SIN/STRIPAK complex. [provided by Alliance of Genome Resources, Mar 2025]

LOC102724525 Gene

carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2 pseudogene

PLGRKT Gene

plasminogen receptor, C-terminal lysine transmembrane protein

Predicted to be involved in positive regulation of plasminogen activation. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

CTBP1 Gene

C-terminal binding protein 1

This gene encodes a protein that binds to the C-terminus of adenovirus E1A proteins. This phosphoprotein is a transcriptional repressor and may play a role during cellular proliferation. This protein and the product of a second closely related gene, CTBP2, can dimerize. Both proteins can also interact with a polycomb group protein complex which participates in regulation of gene expression during development. Alternative splicing of transcripts from this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]

CTBP2 Gene

C-terminal binding protein 2

This gene produces alternative transcripts encoding two distinct proteins. One protein is a transcriptional repressor, while the other isoform is a major component of specialized synapses known as synaptic ribbons. Both proteins contain a NAD+ binding domain similar to NAD+-dependent 2-hydroxyacid dehydrogenases. A portion of the 3' untranslated region was used to map this gene to chromosome 21q21.3; however, it was noted that similar loci elsewhere in the genome are likely. Blast analysis shows that this gene is present on chromosome 10. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2014]

LOC100996362 Gene

C-terminal-binding protein 2 pseudogene

LOC100128210 Gene

ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) pseudogene

LOC402329 Gene

ubiquitin carboxyl-terminal hydrolase 17-like protein 2-like

LOC101929749 Gene

carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2 pseudogene

TCEANC Gene

transcription elongation factor A (SII) N-terminal and central domain containing

Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

LOC100996763 Gene

notch homolog 2 N-terminal-like protein

Enables Notch binding activity. Involved in cerebral cortex development and positive regulation of Notch signaling pathway. Located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

EFHC2 Gene

EF-hand domain (C-terminal) containing 2

This gene encodes a protein which contains three DM10 domains and three calcium-binding EF-hand motifs. A related protein is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the development of epilepsy (PMID: 15258581, 16112844) and that this gene may be associated with fear recognition in individuals with Turner syndrome. [provided by RefSeq, Aug 2011]

EFHC1 Gene

EF-hand domain (C-terminal) containing 1

This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]

CITED2 Gene

Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2

The protein encoded by this gene inhibits transactivation of HIF1A-induced genes by competing with binding of hypoxia-inducible factor 1-alpha to p300-CH1. Mutations in this gene are a cause of cardiac septal defects. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]

LOC100421809 Gene

LON peptidase N-terminal domain and ring finger 2 pseudogene

LOC100131448 Gene

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 pseudogene

PCIF1 Gene

PDX1 C-terminal inhibiting factor 1

Enables RNA polymerase II C-terminal domain phosphoserine binding activity; S-adenosyl-L-methionine binding activity; and mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity. Involved in mRNA processing; negative regulation of translation; and positive regulation of translation. Located in intercellular bridge; microtubule cytoskeleton; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

LOC102723400 Gene

C-terminal-binding protein 2 pseudogene

WBP2NL Gene

WBP2 N-terminal like

WBP2NL is a sperm-specific WW domain-binding protein that promotes meiotic resumption and pronuclear development during oocyte fertilization (Wu et al., 2007 [PubMed 17289678]).[supplied by OMIM, Mar 2008]

LOC643605 Gene

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 pseudogene

TMPRSS12 Gene

transmembrane (C-terminal) protease, serine 12

Predicted to enable serine-type endopeptidase activity. Predicted to be involved in acrosome assembly and positive regulation of sperm capacitation. Predicted to act upstream of or within binding activity of sperm to zona pellucida and protein processing. Predicted to be located in acrosomal vesicle. [provided by Alliance of Genome Resources, Mar 2025]

NTAN1 Gene

N-terminal asparagine amidase

The protein encoded by this gene functions in a step-wise process of protein degradation through the N-end rule pathway. This protein acts as a tertiary destabilizing enzyme that deamidates N-terminal L-Asn residues on proteins to produce N-terminal L-Asp. L-Asp substrates are subsequently conjugated to L-Arg, which is recognized by specific E3 ubiquitin ligases and targeted to the proteasome. Pseudogenes of this gene are located on the long arms of chromosomes 8, 10 and 12. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]

LOC102724677 Gene

carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2 pseudogene

NUP62CL Gene

nucleoporin 62kDa C-terminal like

This gene encodes a protein containing a domain found in nucleoporins which are glycoproteins found in nuclear pore complexes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]

UCHL5 Gene

ubiquitin carboxyl-terminal hydrolase L5

Enables cysteine-type deubiquitinase activity; endopeptidase inhibitor activity; and proteasome binding activity. Involved in several processes, including positive regulation of smoothened signaling pathway; protein deubiquitination; and regulation of primary metabolic process. Located in cytosol and nuclear lumen. [provided by Alliance of Genome Resources, Mar 2025]

UCHL1 Gene

ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)

The protein encoded by this gene belongs to the peptidase C12 family. This enzyme is a thiol protease that hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin. This gene is specifically expressed in the neurons and in cells of the diffuse neuroendocrine system. Mutations in this gene may be associated with Parkinson disease.[provided by RefSeq, Sep 2009]

UCHL3 Gene

ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)

The protein encoded by this gene is a member of the deubiquitinating enzyme family. Members of this family are proteases that catalyze the removal of ubiquitin from polypeptides and are divided into five classes, depending on the mechanism of catalysis. This protein may hydrolyze the ubiquitinyl-N-epsilon amide bond of ubiquitinated proteins to regenerate ubiquitin for another catalytic cycle. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]

CTDSP1 Gene

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1

This gene encodes a member of the small C-terminal domain phosphatase (SCP) family of nuclear phosphatases. These proteins play a role in transcriptional regulation through specific dephosphorylation of phosphoserine 5 within tandem heptapeptide repeats of the C-terminal domain of RNA polymerase II. The encoded protein plays a role in neuronal gene silencing in non-neuronal cells, and may also inhibit osteoblast differentiation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]

CTDSP2 Gene

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2

Enables RNA polymerase II CTD heptapeptide repeat phosphatase activity. Involved in protein dephosphorylation. Predicted to be located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

CTDSPL Gene

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like

Predicted to enable RNA polymerase II CTD heptapeptide repeat phosphatase activity. Predicted to be involved in chromatin remodeling and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within negative regulation of G1/S transition of mitotic cell cycle and negative regulation of protein phosphorylation. Located in extracellular exosome. Biomarker of lung non-small cell carcinoma. [provided by Alliance of Genome Resources, Mar 2025]

LOC649352 Gene

ubiquitin carboxyl-terminal hydrolase 17-like protein 2-like

ABRACL Gene

ABRA C-terminal like

Predicted to be involved in regulation of actin filament-based process. [provided by Alliance of Genome Resources, Mar 2025]

NTMT1 Gene

N-terminal Xaa-Pro-Lys N-methyltransferase 1

The METTL11A gene encodes an N-terminal methyltransferase for the RAN (MIM 601179) guanine nucleotide exchange factor regulator of chromosome condensation 1 (RCC1; MIM 179710). METTL11A enzyme alpha-N-methylates other protein targets such as SET (MIM 600960) and RB (MIM 180200).[supplied by OMIM, Nov 2010]

LOC101929775 Gene

C-Jun-amino-terminal kinase-interacting protein 1-like

LOC102724822 Gene

carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2 pseudogene

MICALCL Gene

MICAL C-terminal like

RASSF9 Gene

Ras association (RalGDS/AF-6) domain family (N-terminal) member 9

The protein encoded by this gene localizes to perinuclear endosomes. This protein associates with peptidylglycine alpha-amidating monooxygenase, and may be involved with the trafficking of this enzyme through secretory or endosomal pathways. [provided by RefSeq, Jul 2008]

RASSF8 Gene

Ras association (RalGDS/AF-6) domain family (N-terminal) member 8

This gene encodes a member of the Ras-assocation domain family (RASSF) of tumor suppressor proteins. This gene is essential for maintaining adherens junction function in epithelial cells and has a role in epithelial cell migration. It is a lung tumor suppressor gene candidate. A chromosomal translocation t(12;22)(p11.2;q13.3) leading to the fusion of this gene and the FBLN1 gene is found in a complex type of synpolydactyly. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]

RASSF7 Gene

Ras association (RalGDS/AF-6) domain family (N-terminal) member 7

Predicted to be involved in apoptotic process and signal transduction. Located in centriolar satellite. [provided by Alliance of Genome Resources, Mar 2025]

LONRF2P2 Gene

LON peptidase N-terminal domain and ring finger 2 pseudogene 2

LONRF2P1 Gene

LON peptidase N-terminal domain and ring finger 2 pseudogene 1

YJEFN3 Gene

YjeF N-terminal domain containing 3

Predicted to enable NAD(P)HX epimerase activity. Predicted to be involved in several processes, including hematopoietic stem cell proliferation; membrane raft distribution; and negative regulation of angiogenesis. [provided by Alliance of Genome Resources, Mar 2025]

LOC102724931 Gene

C-terminal-binding protein 2 pseudogene

LONRF3 Gene

LON peptidase N-terminal domain and ring finger 3

The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. Multiple alternatively spliced transcript variants have been suggested, but their full length natures are not clear. [provided by RefSeq, Jul 2008]

LONRF2 Gene

LON peptidase N-terminal domain and ring finger 2

Predicted to enable ubiquitin protein ligase activity. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

LONRF1 Gene

LON peptidase N-terminal domain and ring finger 1

Predicted to enable ubiquitin protein ligase activity. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

NOTCH2NL Gene

notch 2 N-terminal like

Enables Notch binding activity. Involved in cerebral cortex development and positive regulation of Notch signaling pathway. Predicted to be located in cytoplasm and extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

LOC100129607 Gene

ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) pseudogene

LOC105379587 Gene

putative ubiquitin carboxyl-terminal hydrolase 17-like protein 23

PRAMENP Gene

PRAME N-terminal-like, pseudogene

CCDC144NL Gene

coiled-coil domain containing 144 family, N-terminal like

CTDP1 Gene

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1

This gene encodes a protein which interacts with the carboxy-terminus of the RAP74 subunit of transcription initiation factor TFIIF, and functions as a phosphatase that processively dephosphorylates the C-terminus of POLR2A (a subunit of RNA polymerase II), making it available for initiation of gene expression. Mutations in this gene are associated with congenital cataracts, facial dysmorphism and neuropathy syndrome (CCFDN). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]

DNTTIP1 Gene

deoxynucleotidyltransferase, terminal, interacting protein 1

DNTTIP1 binds DNA and enhances the activity of terminal deoxynucleotidyltransferase (TDT, or DNTT; MIM 187410), a DNA polymerase that catalyzes the polymerization of DNA in the absence of a DNA template (Yamashita et al., 2001 [PubMed 11473582]).[supplied by OMIM, Mar 2008]

DNTTIP2 Gene

deoxynucleotidyltransferase, terminal, interacting protein 2

This gene is thought to be involved in chromatin remodeling and gene transcription. The encoded nuclear protein binds to and enhances the transcriptional activity of the estrogen receptor alpha, and also interacts with terminal deoxynucleotidyltransferase. The expression profile of this gene is a potential biomarker for chronic obstructive pulmonary disease. [provided by RefSeq, Dec 2010]

ZBED6CL Gene

ZBED6 C-terminal like

CRCT1 Gene

cysteine-rich C-terminal 1

FOPNL Gene

FGFR1OP N-terminal like

Enables identical protein binding activity. Involved in cilium assembly. Located in centriolar satellite and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

CEP295NL Gene

CEP295 N-terminal like

Predicted to enable microtubule binding activity. Predicted to be involved in regulation of centriole replication. Predicted to be located in motile cilium. Predicted to be active in centriole; centrosome; and cytosol. [provided by Alliance of Genome Resources, Mar 2025]

NTAN1P3 Gene

N-terminal asparagine amidase pseudogene 3

RASSF10 Gene

Ras association (RalGDS/AF-6) domain family (N-terminal) member 10

Predicted to be involved in positive regulation of neural precursor cell proliferation and positive regulation of neurogenesis. Predicted to be located in centrosome; cytosol; and spindle pole. [provided by Alliance of Genome Resources, Mar 2025]

TUT1 Gene

terminal uridylyl transferase 1, U6 snRNA-specific

This gene encodes a nucleotidyl transferase that functions as both a terminal uridylyltransferase and a nuclear poly(A) polymerase. The encoded enzyme specifically adds and removes nucleotides from the 3' end of small nuclear RNAs and select mRNAs and may function in controlling gene expression and cell proliferation.[provided by RefSeq, Apr 2009]

UBE2DNL Gene

ubiquitin-conjugating enzyme E2D N-terminal like (pseudogene)

PMS2CL Gene

PMS2 C-terminal like pseudogene

RCL1 Gene

RNA terminal phosphate cyclase-like 1

Predicted to enable RNA endonuclease activity. Involved in ribosomal small subunit biogenesis. Part of small-subunit processome. [provided by Alliance of Genome Resources, Mar 2025]

MAP3K7CL Gene

MAP3K7 C-terminal like

Located in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

NECAB3 Gene

N-terminal EF-hand calcium binding protein 3

The protein encoded by this gene interacts with the amino-terminal domain of the neuron-specific X11-like protein (X11L), inhibits the association of X11L with amyloid precursor protein through a non-competitive mechanism, and abolishes the suppression of beta-amyloid production by X11L. This protein, together with X11L, may play an important role in the regulatory system of amyloid precursor protein metabolism and beta-amyloid generation. The protein is phosphorylated by NIMA-related expressed kinase 2, and localizes to the Golgi apparatus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

NECAB2 Gene

N-terminal EF-hand calcium binding protein 2

The protein encoded by this gene is a neuronal calcium-binding protein that binds to and modulates the function of at least two receptors, adenosine A(2A) receptor and metabotropic glutamate receptor type 5. [provided by RefSeq, Jul 2016]

NECAB1 Gene

N-terminal EF-hand calcium binding protein 1

Enables identical protein binding activity. Predicted to be involved in regulation of amyloid precursor protein biosynthetic process. Predicted to act upstream of or within blastocyst hatching. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

MGC70870 Gene

C-terminal binding protein 2 pseudogene

LOC392187 Gene

ubiquitin carboxyl-terminal hydrolase 17-like protein 2-like

LOC101929796 Gene

notch homolog 2 N-terminal-like protein

Predicted to enable calcium ion binding activity. Predicted to be involved in nervous system development. [provided by Alliance of Genome Resources, Mar 2025]

RTCA Gene

RNA 3'-terminal phosphate cyclase

This gene encodes a member of the RNA 3'-phosphate cyclase family. The encoded protein plays a role in RNA metabolism by catalyzing the ATP-dependent conversion of the 3'-phosphate of RNA substrates to a 2',3'-cyclic phosphodiester. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]

CDKN2AIPNLP1 Gene

CDKN2A interacting protein N-terminal like pseudogene 1

CDKN2AIPNLP2 Gene

CDKN2A interacting protein N-terminal like pseudogene 2

CDKN2AIPNLP3 Gene

CDKN2A interacting protein N-terminal like pseudogene 3

TMPRSS11BNL Gene

TMPRSS11B N-terminal like, pseudogene

NTAN1P2 Gene

N-terminal asparagine amidase pseudogene 2

GSTCD Gene

glutathione S-transferase, C-terminal domain containing

Located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

LOC100421810 Gene

LON peptidase N-terminal domain and ring finger 2 pseudogene

SPRTN Gene

SprT-like N-terminal domain

The protein encoded by this gene may play a role in DNA repair during replication of damaged DNA. This protein recruits valosin containing protein (p97) to stalled DNA replication forks where it may prevent excessive translesional DNA synthesis and limit the number of DNA-damage induced mutations. It may also be involved in replication-related G2/M-checkpoint regulation. Deficiency of a similar protein in mouse causes chromosomal instability and progeroid phenotypes. Mutations in this gene have been associated with Ruijs-Aalfs syndrome (RJALS). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]

CTBP2P8 Gene

C-terminal binding protein 2 pseudogene 8

LOC100422645 Gene

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 pseudogene

NTAN1P1 Gene

N-terminal asparagine amidase pseudogene 1

LOC100128056 Gene

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 pseudogene

LOC102724310 Gene

C-terminal-binding protein 2 pseudogene

LRRN4CL Gene

LRRN4 C-terminal like

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

PITHD1 Gene

PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1

Involved in positive regulation of DNA-templated transcription and positive regulation of megakaryocyte differentiation. Located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

CTBP2P1 Gene

C-terminal binding protein 2 pseudogene 1

CTBP2P2 Gene

C-terminal binding protein 2 pseudogene 2

CTBP2P3 Gene

C-terminal binding protein 2 pseudogene 3

CTBP2P4 Gene

C-terminal binding protein 2 pseudogene 4

CTBP2P5 Gene

C-terminal binding protein 2 pseudogene 5

CTBP2P6 Gene

C-terminal binding protein 2 pseudogene 6

CTBP2P7 Gene

C-terminal binding protein 2 pseudogene 7

CTDSPL2 Gene

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2

Enables RNA polymerase II CTD heptapeptide repeat phosphatase activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within negative regulation of BMP signaling pathway; positive regulation of protein export from nucleus; and protein dephosphorylation. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

EP400NL Gene

EP400 N-terminal like

TUT4 Gene

terminal uridylyl transferase 4

Enables RNA uridylyltransferase activity. Involved in RNA metabolic process; stem cell population maintenance; and transposable element silencing by mRNA destabilization. Located in cytoplasmic ribonucleoprotein granule; cytosol; and nucleolus. Implicated in liver benign neoplasm. Biomarker of breast cancer. [provided by Alliance of Genome Resources, Mar 2025]

TUT7 Gene

terminal uridylyl transferase 7

Enables RNA uridylyltransferase activity and miRNA binding activity. Involved in RNA metabolic process and transposable element silencing by mRNA destabilization. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

TENT2 Gene

terminal nucleotidyltransferase 2

Enables poly(A) RNA polymerase activity. Involved in histone mRNA catabolic process; mRNA 3'-end processing; and negative regulation of miRNA catabolic process. Predicted to be located in cytoplasm and nucleus. Predicted to be part of nuclear RNA-directed RNA polymerase complex. Predicted to be active in glutamatergic synapse; perforant pathway to dendrate granule cell synapse; and postsynapse. [provided by Alliance of Genome Resources, Mar 2025]

NTAQ1 Gene

N-terminal glutamine amidase 1

Predicted to enable protein-N-terminal glutamine amidohydrolase activity. Predicted to be involved in protein modification process. Predicted to be located in cytoplasm. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

TENT4B Gene

terminal nucleotidyltransferase 4B

Enables guanylyltransferase activity; poly(A) RNA polymerase activity; and telomerase RNA binding activity. Involved in RNA metabolic process; carbohydrate homeostasis; and regulation of nucleobase-containing compound metabolic process. Located in cytosol; nucleolus; and plasma membrane. Part of TRAMP complex. [provided by Alliance of Genome Resources, Mar 2025]

TENT5A Gene

terminal nucleotidyltransferase 5A

Enables poly(A) RNA polymerase activity. Predicted to be involved in mRNA stabilization; positive regulation of bone mineralization; and positive regulation of osteoblast differentiation. Predicted to act upstream of or within response to bacterium. Predicted to be located in cytoplasm. Implicated in lung non-small cell carcinoma; osteoarthritis; and osteogenesis imperfecta type 18. [provided by Alliance of Genome Resources, Mar 2025]

TENT4A Gene

terminal nucleotidyltransferase 4A

The protein encoded by this gene is a DNA polymerase that is likely involved in DNA repair. In addition, the encoded protein may be required for sister chromatid adhesion. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jan 2010]

NOTCH2NLA Gene

notch 2 N-terminal like A

Enables Notch binding activity. Involved in cerebral cortex development and positive regulation of Notch signaling pathway. Predicted to be located in cytoplasm and extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

TENT5C Gene

terminal nucleotidyltransferase 5C

Enables poly(A) RNA polymerase activity. Involved in mRNA stabilization and negative regulation of cell differentiation. Located in centrosome; cytoplasm; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ANKRD40CL Gene

ANKRD40 C-terminal like

NTMT2 Gene

N-terminal Xaa-Pro-Lys N-methyltransferase 2

Enables N-terminal protein N-methyltransferase activity. Involved in N-terminal protein amino acid methylation. Located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

TENT5B Gene

terminal nucleotidyltransferase 5B

Enables poly(A) RNA polymerase activity. Involved in several processes, including negative regulation of apoptotic process; negative regulation of cell population proliferation; and positive regulation of translation. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

CHCT1 Gene

CHD1 helical C-terminal domain containing 1

Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

TENT5D Gene

terminal nucleotidyltransferase 5D

Antibodies against the protein encoded by this gene were found only in plasma from cancer patients. While it may be a target for immunotherapy, the function of this gene is unknown. [provided by RefSeq, Dec 2009]

NOTCH2NLC Gene

notch 2 N-terminal like C

Enables Notch binding activity. Involved in cerebral cortex development and positive regulation of Notch signaling pathway. Located in extracellular region. Implicated in essential tremor 6; neuronal intranuclear inclusion disease; and oculopharyngodistal myopathy 3. [provided by Alliance of Genome Resources, Mar 2025]

NOTCH2NLB Gene

notch 2 N-terminal like B

Enables Notch binding activity. Involved in cerebral cortex development and positive regulation of Notch signaling pathway. Located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

ARK2C Gene

arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C

Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in motor neuron axon guidance and positive regulation of BMP signaling pathway. Predicted to act upstream of or within several processes, including forelimb morphogenesis; nervous system development; and protein polyubiquitination. Predicted to be part of protein-containing complex. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

Terminal osseous dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Terminal osseous dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

TERMINAL OSSEOUS DYSPLASIA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease TERMINAL OSSEOUS DYSPLASIA from the curated CTD Gene-Disease Associations dataset.

terminal osseous dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the terminal osseous dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

Terminal osseous dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Terminal osseous dysplasia Gene Set

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

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

Terminal Osseous Dysplasia And Pigmentary Defects Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Terminal Osseous Dysplasia And Pigmentary Defects in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Terminal osseous dysplasia-pigmentary defects syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Terminal osseous dysplasia-pigmentary defects syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Florid Cemento-Osseous Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Florid Cemento-Osseous Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Schimke immuno-osseous dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Schimke immuno-osseous dysplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Schimke immuno-osseous dysplasia Gene Set

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

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

Schimke immuno-osseous dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Schimke immuno-osseous dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Tricho-dento-osseous syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Tricho-dento-osseous syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Osseous Heteroplasia, Progressive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Osseous Heteroplasia, Progressive from the curated CTD Gene-Disease Associations dataset.

solitary osseous plasmacytoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

bone density; tricho-dento-osseous syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bone density; tricho-dento-osseous syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

osseous Gene Set

From GeneRIF Biological Term Annotations

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

osseous metaplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the osseous metaplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

osseous heteroplasia, progressive Gene Set

From OMIM Gene-Disease Associations

genes associated with the osseous heteroplasia, progressive phenotype from the curated OMIM Gene-Disease Associations dataset.

osseous plate Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue osseous plate in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

Tricho-Dento-Osseous Syndrome (Disorder) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Tricho-Dento-Osseous Syndrome (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Osseous Ankylosis Gene Set

From DisGeNET Gene-Disease Associations

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

Extra-Osseous Ewing'S Sarcoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Extra-Osseous Ewing'S Sarcoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Solitary Osseous Plasmacytoma Gene Set

From DisGeNET Gene-Disease Associations

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

osseous metaplasia Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the osseous metaplasia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

Progressive osseous heteroplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Progressive osseous heteroplasia Gene Set

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

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

Solitary osseous plasmacytoma Gene Set

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

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

Osseous plate Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

proteins co-occuring with the tissue Osseous plate in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.

Tricho-dento-osseous syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Tricho-dento-osseous syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Progressive osseous heteroplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Progressive osseous heteroplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

carcinoma, squamous cell; cervical dysplasia; cervical intraepithelial neoplasia; cervical neoplasm; papillomavirus infections; squamous cell carcinoma; tumor virus infections; uterine cervical dysplasia; uterine cervical neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, squamous cell; cervical dysplasia; cervical intraepithelial neoplasia; cervical neoplasm; papillomavirus infections; squamous cell carcinoma; tumor virus infections; uterine cervical dysplasia; uterine cervical neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Ubiquitin carboxyl-terminal hydrolase, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ubiquitin carboxyl-terminal hydrolase, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Frontometaphyseal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Frontometaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Czech dysplasia metatarsal type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Czech dysplasia metatarsal type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epiphyseal dysplasia, multiple, 3, with myopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epiphyseal dysplasia, multiple, 3, with myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondyloperipheral dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloperipheral dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Wolcott-Rallison dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Wolcott-Rallison dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Craniodiaphyseal dysplasia, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniodiaphyseal dysplasia, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypohidrotic X-linked ectodermal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypohidrotic X-linked ectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Progressive pseudorheumatoid dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Progressive pseudorheumatoid dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Osteoglophonic dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Osteoglophonic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gracile bone dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gracile bone dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Frontonasal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Frontonasal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondylometaphyseal dysplasia, Kozlowski type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondylometaphyseal dysplasia, Kozlowski type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Odontoonychodermal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Odontoonychodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondyloepimetaphyseal dysplasia with multiple dislocations Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloepimetaphyseal dysplasia with multiple dislocations phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal-hepatic-pancreatic dysplasia 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal-hepatic-pancreatic dysplasia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Acampomelic campomelic dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Acampomelic campomelic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ectodermal dysplasia/short stature syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ectodermal dysplasia/short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondyloepimetaphyseal dysplasia, Missouri type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloepimetaphyseal dysplasia, Missouri type 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.

Arrhythmogenic right ventricular dysplasia, familial, 13 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arrhythmogenic right ventricular dysplasia, familial, 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Craniofrontonasal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniofrontonasal dysplasia 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.

Spondyloepiphyseal dysplasia, kimberley type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloepiphyseal dysplasia, kimberley type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short-rib thoracic dysplasia 11 with or without polydactyly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short-rib thoracic dysplasia 11 with or without polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cardiac valvular dysplasia, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cardiac valvular dysplasia, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Trichorhinophalangeal dysplasia type I Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Trichorhinophalangeal dysplasia type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Diastrophic dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Diastrophic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thanatophoric dysplasia type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thanatophoric dysplasia type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Diaphyseal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Diaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive hypohidrotic ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cleidocranial dysplasia, forme fruste, with brachydactyly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cleidocranial dysplasia, forme fruste, with brachydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Craniometaphyseal dysplasia, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniometaphyseal dysplasia, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Schneckenbecken dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Schneckenbecken dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Acromicric dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Acromicric dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Vitreoretinopathy with phalangeal epiphyseal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Vitreoretinopathy with phalangeal epiphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Acromesomelic dysplasia Maroteaux type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Acromesomelic dysplasia Maroteaux type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Rapp-Hodgkin ectodermal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rapp-Hodgkin ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Schimke immunoosseous dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Schimke immunoosseous dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Acrocapitofemoral dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Acrocapitofemoral dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hay-Wells syndrome of ectodermal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hay-Wells syndrome of ectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Oculodentodigital dysplasia, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Oculodentodigital dysplasia, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondyloepiphyseal dysplasia with congenital joint dislocations Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloepiphyseal dysplasia with congenital joint dislocations phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short-rib thoracic dysplasia 10 with or without polydactyly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short-rib thoracic dysplasia 10 with or without polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Greenberg dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Greenberg dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Boomerang dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Boomerang dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Craniolenticulosutural dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniolenticulosutural dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Oculodentodigital dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Oculodentodigital dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Desbuquois dysplasia 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Desbuquois dysplasia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cortical dysplasia, complex, with other brain malformations 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cortical dysplasia, complex, with other brain malformations 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cortical dysplasia, complex, with other brain malformations 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cortical dysplasia, complex, with other brain malformations 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cortical dysplasia, complex, with other brain malformations 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cortical dysplasia, complex, with other brain malformations 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cortical dysplasia, complex, with other brain malformations 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cortical dysplasia, complex, with other brain malformations 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cortical dysplasia, complex, with other brain malformations 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cortical dysplasia, complex, with other brain malformations 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bent bone dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bent bone dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondylometaphyseal dysplasia with cone-rod dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondylometaphyseal dysplasia with cone-rod dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Chondroectodermal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Chondroectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ischiopatellar dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ischiopatellar dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Geleophysic dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Geleophysic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corneal intraepithelial dyskeratosis and ectodermal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corneal intraepithelial dyskeratosis and ectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Geleophysic dysplasia 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Geleophysic dysplasia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondyloepimetaphyseal dysplasia, Aggrecan type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloepimetaphyseal dysplasia, Aggrecan type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alveolar capillary dysplasia with misalignment of pulmonary veins Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alveolar capillary dysplasia with misalignment of pulmonary veins phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Brachyrachia (short spine dysplasia) Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Brachyrachia (short spine dysplasia) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cortical dysplasia-focal epilepsy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cortical dysplasia-focal epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondyloepimetaphyseal dysplasia Strudwick type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloepimetaphyseal dysplasia Strudwick type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short-rib thoracic dysplasia 3 with or without polydactyly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short-rib thoracic dysplasia 3 with or without polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Septo-optic dysplasia sequence Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Septo-optic dysplasia sequence phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondyloepiphyseal dysplasia Maroteaux type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloepiphyseal dysplasia Maroteaux type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondylo-megaepiphyseal-metaphyseal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondylo-megaepiphyseal-metaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cranioectodermal dysplasia 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cranioectodermal dysplasia 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cranioectodermal dysplasia 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cranioectodermal dysplasia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cranioectodermal dysplasia 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cranioectodermal dysplasia 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epiphyseal dysplasia, multiple, with myopia and conductive deafness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epiphyseal dysplasia, multiple, with myopia and conductive deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cranioectodermal dysplasia 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cranioectodermal dysplasia 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fibrous dysplasia of jaw Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fibrous dysplasia of jaw phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Smith McCort dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Smith McCort dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondyloepiphyseal dysplasia congenita Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloepiphyseal dysplasia congenita phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple epiphyseal dysplasia 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple epiphyseal dysplasia 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple epiphyseal dysplasia 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple epiphyseal dysplasia 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple epiphyseal dysplasia 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple epiphyseal dysplasia 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ectodermal dysplasia skin fragility syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ectodermal dysplasia skin fragility syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondyloepimetaphyseal dysplasia, pakistani type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondyloepimetaphyseal dysplasia, pakistani type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kniest dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kniest dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Otospondylomegaepiphyseal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Otospondylomegaepiphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondylometaepiphyseal dysplasia short limb-hand type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondylometaepiphyseal dysplasia short limb-hand type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ectodermal dysplasia-syndactyly syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ectodermal dysplasia-syndactyly syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Metatrophic dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Metatrophic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Frontonasal dysplasia 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Frontonasal dysplasia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Frontonasal dysplasia 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Frontonasal dysplasia 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hidrotic ectodermal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hidrotic ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dyssegmental dysplasia Gene Set

From CTD Gene-Disease Associations

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

Frontometaphyseal dysplasia Gene Set

From CTD Gene-Disease Associations

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

DEVELOPMENTAL DYSPLASIA OF THE HIP 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEVELOPMENTAL DYSPLASIA OF THE HIP 1 from the curated CTD Gene-Disease Associations dataset.

GNATHODIAPHYSEAL DYSPLASIA Gene Set

From CTD Gene-Disease Associations

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

Ectodermal Dysplasia 3, Anhidrotic Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal Dysplasia 3, Anhidrotic from the curated CTD Gene-Disease Associations dataset.

Acrocapitofemoral Dysplasia Gene Set

From CTD Gene-Disease Associations

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

Thanatophoric dysplasia, type 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thanatophoric dysplasia, type 2 from the curated CTD Gene-Disease Associations dataset.

Cardiac valvular dysplasia, X-linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cardiac valvular dysplasia, X-linked from the curated CTD Gene-Disease Associations dataset.

GREENBERG DYSPLASIA Gene Set

From CTD Gene-Disease Associations

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

Craniolenticulosutural Dysplasia Gene Set

From CTD Gene-Disease Associations

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

Mandibuloacral dysplasia with type B lipodystrophy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mandibuloacral dysplasia with type B lipodystrophy from the curated CTD Gene-Disease Associations dataset.

CRANIOECTODERMAL DYSPLASIA 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CRANIOECTODERMAL DYSPLASIA 2 from the curated CTD Gene-Disease Associations dataset.

ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2 from the curated CTD Gene-Disease Associations dataset.

Focal cortical dysplasia of Taylor Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Focal cortical dysplasia of Taylor from the curated CTD Gene-Disease Associations dataset.

Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema from the curated CTD Gene-Disease Associations dataset.

Multicystic renal dysplasia, bilateral Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Multicystic renal dysplasia, bilateral from the curated CTD Gene-Disease Associations dataset.

Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness from the curated CTD Gene-Disease Associations dataset.

Cranioectodermal Dysplasia Gene Set

From CTD Gene-Disease Associations

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

Thanatophoric Dysplasia, Type I Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thanatophoric Dysplasia, Type I from the curated CTD Gene-Disease Associations dataset.

Acromicric dysplasia Gene Set

From CTD Gene-Disease Associations

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

Langer mesomelic dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Langer mesomelic dysplasia from the curated CTD Gene-Disease Associations dataset.

Cleidocranial Dysplasia Gene Set

From CTD Gene-Disease Associations

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

FRONTONASAL DYSPLASIA 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FRONTONASAL DYSPLASIA 1 from the curated CTD Gene-Disease Associations dataset.

FRONTONASAL DYSPLASIA 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FRONTONASAL DYSPLASIA 2 from the curated CTD Gene-Disease Associations dataset.

Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Bronchopulmonary Dysplasia Gene Set

From CTD Gene-Disease Associations

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

Spondylo-Megaepiphyseal-Metaphyseal Dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spondylo-Megaepiphyseal-Metaphyseal Dysplasia from the curated CTD Gene-Disease Associations dataset.

Spondyloepiphyseal Dysplasia Tarda, X-Linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spondyloepiphyseal Dysplasia Tarda, X-Linked from the curated CTD Gene-Disease Associations dataset.

Polyostotic osteolytic dysplasia, hereditary expansile Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Polyostotic osteolytic dysplasia, hereditary expansile from the curated CTD Gene-Disease Associations dataset.

FRONTONASAL DYSPLASIA 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FRONTONASAL DYSPLASIA 3 from the curated CTD Gene-Disease Associations dataset.

Schimke immunoosseous dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Schimke immunoosseous dysplasia from the curated CTD Gene-Disease Associations dataset.

Ectodermal Dysplasia Gene Set

From CTD Gene-Disease Associations

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

ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE from the curated CTD Gene-Disease Associations dataset.

Immunodeficiency without anhidrotic ectodermal dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immunodeficiency without anhidrotic ectodermal dysplasia from the curated CTD Gene-Disease Associations dataset.

Craniofrontonasal dysplasia Gene Set

From CTD Gene-Disease Associations

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

Oculodentodigital Dysplasia Gene Set

From CTD Gene-Disease Associations

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

Anal sphincter dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anal sphincter dysplasia from the curated CTD Gene-Disease Associations dataset.

Platyspondylic Lethal Skeletal Dysplasia, Torrance Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Platyspondylic Lethal Skeletal Dysplasia, Torrance Type from the curated CTD Gene-Disease Associations dataset.

Anauxetic dysplasia Gene Set

From CTD Gene-Disease Associations

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

Mental Retardation, Skeletal Dysplasia, and Abducens Palsy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Skeletal Dysplasia, and Abducens Palsy from the curated CTD Gene-Disease Associations dataset.

Hypopituitarism and septooptic 'dysplasia' Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypopituitarism and septooptic 'dysplasia' from the curated CTD Gene-Disease Associations dataset.

Odontoonychodermal dysplasia Gene Set

From CTD Gene-Disease Associations

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

Spondylometaphyseal dysplasia, Kozlowski type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spondylometaphyseal dysplasia, Kozlowski type from the curated CTD Gene-Disease Associations dataset.

Cortical Dysplasia-Focal Epilepsy Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cortical Dysplasia-Focal Epilepsy Syndrome from the curated CTD Gene-Disease Associations dataset.

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 from the curated CTD Gene-Disease Associations dataset.

SPONDYLOPERIPHERAL DYSPLASIA Gene Set

From CTD Gene-Disease Associations

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

RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 from the curated CTD Gene-Disease Associations dataset.

Spondyloepiphyseal Dysplasia, Kimberley Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spondyloepiphyseal Dysplasia, Kimberley Type from the curated CTD Gene-Disease Associations dataset.

Craniometaphyseal Dysplasia, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Craniometaphyseal Dysplasia, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Schneckenbecken dysplasia Gene Set

From CTD Gene-Disease Associations

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

Thanatophoric Dysplasia Gene Set

From CTD Gene-Disease Associations

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

Ectodermal dysplasia/ skin fragility syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal dysplasia/ skin fragility syndrome from the curated CTD Gene-Disease Associations dataset.

Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Ghosal Hematodiaphyseal Dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ghosal Hematodiaphyseal Dysplasia from the curated CTD Gene-Disease Associations dataset.

Smith-McCort Dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Smith-McCort Dysplasia from the curated CTD Gene-Disease Associations dataset.

Diastrophic dysplasia Gene Set

From CTD Gene-Disease Associations

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

Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 from the curated CTD Gene-Disease Associations dataset.

Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 from the curated CTD Gene-Disease Associations dataset.

Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 from the curated CTD Gene-Disease Associations dataset.

Fibrous Dysplasia, Polyostotic Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Fibrous Dysplasia, Polyostotic from the curated CTD Gene-Disease Associations dataset.

RETINAL DYSPLASIA, PRIMARY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease RETINAL DYSPLASIA, PRIMARY from the curated CTD Gene-Disease Associations dataset.

SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE from the curated CTD Gene-Disease Associations dataset.

Fibrous Dysplasia of Bone Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Fibrous Dysplasia of Bone from the curated CTD Gene-Disease Associations dataset.

Metaphyseal Dysplasia without Hypotrichosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Metaphyseal Dysplasia without Hypotrichosis from the curated CTD Gene-Disease Associations dataset.

OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA Gene Set

From CTD Gene-Disease Associations

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

Boomerang dysplasia Gene Set

From CTD Gene-Disease Associations

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

Pelviscapular dysplasia Gene Set

From CTD Gene-Disease Associations

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

Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 from the curated CTD Gene-Disease Associations dataset.

Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 from the curated CTD Gene-Disease Associations dataset.

Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 from the curated CTD Gene-Disease Associations dataset.

GELEOPHYSIC DYSPLASIA 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease GELEOPHYSIC DYSPLASIA 1 from the curated CTD Gene-Disease Associations dataset.

Torticollis keloids cryptorchidism renal dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Torticollis keloids cryptorchidism renal dysplasia from the curated CTD Gene-Disease Associations dataset.

Campomelic Dysplasia Gene Set

From CTD Gene-Disease Associations

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

Alveolar capillary dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Alveolar capillary dysplasia from the curated CTD Gene-Disease Associations dataset.

Ischiopatellar dysplasia Gene Set

From CTD Gene-Disease Associations

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

Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 from the curated CTD Gene-Disease Associations dataset.

Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 from the curated CTD Gene-Disease Associations dataset.

Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 from the curated CTD Gene-Disease Associations dataset.

Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 from the curated CTD Gene-Disease Associations dataset.

ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE from the curated CTD Gene-Disease Associations dataset.

Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3 from the curated CTD Gene-Disease Associations dataset.

Renal hepatic pancreatic dysplasia Dandy Walker cyst Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Renal hepatic pancreatic dysplasia Dandy Walker cyst from the curated CTD Gene-Disease Associations dataset.

Ectodermal dysplasia, ectrodactyly, and macular dystrophy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal dysplasia, ectrodactyly, and macular dystrophy from the curated CTD Gene-Disease Associations dataset.

Nail dysplasia, isolated congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nail dysplasia, isolated congenital from the curated CTD Gene-Disease Associations dataset.

ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 from the curated CTD Gene-Disease Associations dataset.

DENTIN DYSPLASIA, TYPE II Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DENTIN DYSPLASIA, TYPE II from the curated CTD Gene-Disease Associations dataset.

Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related from the curated CTD Gene-Disease Associations dataset.

Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 from the curated CTD Gene-Disease Associations dataset.

Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type from the curated CTD Gene-Disease Associations dataset.

Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies from the curated CTD Gene-Disease Associations dataset.

Mandibuloacral dysplasia with type A lipodystrophy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mandibuloacral dysplasia with type A lipodystrophy from the curated CTD Gene-Disease Associations dataset.

Oculodentodigital Dysplasia, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Oculodentodigital Dysplasia, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Spondyloepimetaphyseal Dysplasia, Missouri Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spondyloepimetaphyseal Dysplasia, Missouri Type from the curated CTD Gene-Disease Associations dataset.

SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS from the curated CTD Gene-Disease Associations dataset.

Acromesomelic dysplasia, Maroteaux type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Acromesomelic dysplasia, Maroteaux type from the curated CTD Gene-Disease Associations dataset.

Ectodermal Dysplasia 1, Anhidrotic Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal Dysplasia 1, Anhidrotic from the curated CTD Gene-Disease Associations dataset.

ACROPECTOROVERTEBRAL DYSPLASIA Gene Set

From CTD Gene-Disease Associations

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

Spondyloepiphyseal dysplasia, congenita Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spondyloepiphyseal dysplasia, congenita from the curated CTD Gene-Disease Associations dataset.

Spondyloepimetaphyseal Dysplasia, Pakistani Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spondyloepimetaphyseal Dysplasia, Pakistani Type from the curated CTD Gene-Disease Associations dataset.

Spondyloepimetaphyseal Dysplasia, Aggrecan Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spondyloepimetaphyseal Dysplasia, Aggrecan Type from the curated CTD Gene-Disease Associations dataset.

Parietal Foramina With Cleidocranial Dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Parietal Foramina With Cleidocranial Dysplasia from the curated CTD Gene-Disease Associations dataset.

Eiken Skeletal Dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Eiken Skeletal Dysplasia from the curated CTD Gene-Disease Associations dataset.

Kniest dysplasia Gene Set

From CTD Gene-Disease Associations

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

SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY from the curated CTD Gene-Disease Associations dataset.

Frontonasal dysplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Frontonasal dysplasia 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.

Epiphyseal dysplasia, multiple, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epiphyseal dysplasia, multiple, 1 from the curated CTD Gene-Disease Associations dataset.

Epiphyseal dysplasia, multiple, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epiphyseal dysplasia, multiple, 3 from the curated CTD Gene-Disease Associations dataset.

Epiphyseal dysplasia, multiple, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epiphyseal dysplasia, multiple, 2 from the curated CTD Gene-Disease Associations dataset.

Epiphyseal dysplasia, multiple, 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epiphyseal dysplasia, multiple, 5 from the curated CTD Gene-Disease Associations dataset.

Epiphyseal dysplasia, multiple, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epiphyseal dysplasia, multiple, 4 from the curated CTD Gene-Disease Associations dataset.

Hip Dysplasia, Beukes Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hip Dysplasia, Beukes Type from the curated CTD Gene-Disease Associations dataset.

craniometaphyseal dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

spondyloepimetaphyseal dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

thanatophoric dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

campomelic dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

otospondylomegaepiphyseal dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

kniest dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

sost-related sclerosing bone dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease sost-related sclerosing bone dysplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

boomerang dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

cleidocranial dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

spondyloepiphyseal dysplasia congenita Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

spondyloepimetaphyseal dysplasia, strudwick type Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease spondyloepimetaphyseal dysplasia, strudwick type from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

diastrophic dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

hypohidrotic ectodermal dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

multiple epiphyseal dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

thanatophoric dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

metaphyseal dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

spondyloepimetaphyseal dysplasia, strudwick type Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease spondyloepimetaphyseal dysplasia, strudwick type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

dentin dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

spondyloepimetaphyseal dysplasia, missouri type Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease spondyloepimetaphyseal dysplasia, missouri type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

spondyloepiphyseal dysplasia congenita Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

spondyloepimetaphyseal dysplasia, sponastrime type Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease spondyloepimetaphyseal dysplasia, sponastrime type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

multiple epiphyseal dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

acromesomelic dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

anauxetic dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

craniometaphyseal dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

sost-related sclerosing bone dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease sost-related sclerosing bone dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

cleidocranial dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

benign mammary dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

acromesomelic dysplasia, maroteaux type Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease acromesomelic dysplasia, maroteaux type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

schneckenbecken dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

otospondylomegaepiphyseal dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

craniodiaphyseal dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

diastrophic dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

thymic dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

hypohidrotic ectodermal dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

campomelic dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

spondyloepimetaphyseal dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

kniest dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

boomerang dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

acrocapitofemoral dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

fibrous dysplasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

achondroplasia; musculoskeletal abnormalities; osteochondrodysplasias; thanatophoric dysplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease achondroplasia; musculoskeletal abnormalities; osteochondrodysplasias; thanatophoric dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

multiple epiphyseal dysplasia Gene Set

From GAD Gene-Disease Associations

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

bronchopulmonary dysplasia; infant, newborn, diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bronchopulmonary dysplasia; infant, newborn, diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fibromuscular dysplasia; hypertension; renal artery obstruction Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fibromuscular dysplasia; hypertension; renal artery obstruction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

thanatophoric dysplasia Gene Set

From GAD Gene-Disease Associations

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

arrhythmogenic right ventricular dysplasia; Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arrhythmogenic right ventricular dysplasia; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bronchopulmonary dysplasia; resp distress syndrome neonatal; respiratory distress syndrome, newborn; respiratory tract infections Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bronchopulmonary dysplasia; resp distress syndrome neonatal; respiratory distress syndrome, newborn; respiratory tract infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

intestinal neuronal dysplasia type b (ind b) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease intestinal neuronal dysplasia type b (ind b) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bronchopulmonary dysplasia Gene Set

From GAD Gene-Disease Associations

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

bronchopulmonary dysplasia; respiratory distress syndrome, neonatal Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bronchopulmonary dysplasia; respiratory distress syndrome, neonatal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia; tachycardia, ventricular Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arrhythmogenic right ventricular dysplasia; tachycardia, ventricular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bronchopulmonary dysplasia; respiratory distress syndrome, newborn Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bronchopulmonary dysplasia; respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia; heart failure Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arrhythmogenic right ventricular dysplasia; heart failure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

multiple epiphyseal dysplasia; pseudoachondroplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease multiple epiphyseal dysplasia; pseudoachondroplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arrhythmogenic right ventricular cardiomyopathy/dysplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arrhythmogenic right ventricular cardiomyopathy/dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ectodermal dysplasia; esophageal neoplasms; neoplasms, squamous cell; oesophageal neoplasm Gene Set

From GAD Gene-Disease Associations

genes associated with the disease ectodermal dysplasia; esophageal neoplasms; neoplasms, squamous cell; oesophageal neoplasm in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia; cardiomyopathies Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arrhythmogenic right ventricular dysplasia; cardiomyopathies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia; syncope Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arrhythmogenic right ventricular dysplasia; syncope in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

isolated congenital pituitary hypoplasia and septo-optic dysplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease isolated congenital pituitary hypoplasia and septo-optic dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bone neoplasms; fibrous dysplasia, polyostotic; ossification, heterotopic; osteoma; pseudohypoparathyroidism; skin neoplasms; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bone neoplasms; fibrous dysplasia, polyostotic; ossification, heterotopic; osteoma; pseudohypoparathyroidism; skin neoplasms; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

spondyloepiphyseal dysplasia tall stature and precocious osteoarthritis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease spondyloepiphyseal dysplasia tall stature and precocious osteoarthritis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

osteoarthritis; hip dysplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease osteoarthritis; hip dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fibrous dysplasia of bone; osteitis fibrosa disseminata; osteosarcoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fibrous dysplasia of bone; osteitis fibrosa disseminata; osteosarcoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; ectodermal dysplasia; heart defects, congenital; mental retardation; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; ectodermal dysplasia; heart defects, congenital; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

pseudoachondroplasia and multiple epiphyseal dysplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease pseudoachondroplasia and multiple epiphyseal dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

strudwick variant of spondyloepimetaphyseal dysplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease strudwick variant of spondyloepimetaphyseal dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

multiple oesophageal dysplasia Gene Set

From GAD Gene-Disease Associations

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

risk of cervical dysplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease risk of cervical dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia; death, sudden, cardiac; sudden cardiac death Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arrhythmogenic right ventricular dysplasia; death, sudden, cardiac; sudden cardiac death in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hpv-associated cervical dysplasia Gene Set

From GAD Gene-Disease Associations

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

bronchopulmonary dysplasia; chorioamnionitis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bronchopulmonary dysplasia; chorioamnionitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arrhythmogenic right ventricular dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

autosomal dominant anhidrotic ectodermal dysplasia and t cell immunodeficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease autosomal dominant anhidrotic ectodermal dysplasia and t cell immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cleidocranial dysplasia Gene Set

From GAD Gene-Disease Associations

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

familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bronchopulmonary dysplasia. Gene Set

From GAD Gene-Disease Associations

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

bronchopulmonary dysplasia; Gene Set

From GAD Gene-Disease Associations

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

arrhythmias, cardiac; arrhythmogenic right ventricular dysplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arrhythmias, cardiac; arrhythmogenic right ventricular dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cleft lip; cleft palate; ectodermal dysplasia; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cleft lip; cleft palate; ectodermal dysplasia; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fibrous dysplasia Gene Set

From GAD Gene-Disease Associations

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

dysplasia Gene Set

From GeneRIF Biological Term Annotations

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

Bronchopulmonary dysplasia Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Bronchopulmonary dysplasia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

nail dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the nail dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

retinal dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the retinal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

multiple epiphyseal dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the multiple epiphyseal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

acetabular dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the acetabular dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

skeletal dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the skeletal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hip dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the hip dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

chorioretinal dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the chorioretinal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

metaphyseal dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the metaphyseal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

spondyloepimetaphyseal dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the spondyloepimetaphyseal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

fibrous dysplasia of the bones Gene Set

From HPO Gene-Disease Associations

genes associated with the fibrous dysplasia of the bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

frontoparietal cortical dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the frontoparietal cortical dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

lethal skeletal dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the lethal skeletal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

cortical dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the cortical dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

brainstem dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the brainstem dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

spondylometaphyseal dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the spondylometaphyseal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

polyostotic fibrous dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the polyostotic fibrous dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

cystic renal dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the cystic renal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

fingernail dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the fingernail dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

epiphyseal dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the epiphyseal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

ectodermal dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the ectodermal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

spondyloepiphyseal dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the spondyloepiphyseal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

optic nerve dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the optic nerve dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

multicystic kidney dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the multicystic kidney dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypohidrotic ectodermal dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the hypohidrotic ectodermal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

polycystic kidney dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the polycystic kidney dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

cerebellar dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the cerebellar dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hair-nail ectodermal dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the hair-nail ectodermal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

toenail dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the toenail dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

renal dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the renal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

diaphyseal dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the diaphyseal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

septo-optic dysplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the septo-optic dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

dysplasia of the femoral head Gene Set

From HPO Gene-Disease Associations

genes associated with the dysplasia of the femoral head phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Septo-Optic Dysplasia Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Septo-Optic Dysplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Bronchopulmonary Dysplasia Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Bronchopulmonary Dysplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Ectodermal Dysplasia Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Ectodermal Dysplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Thanatophoric Dysplasia Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Thanatophoric Dysplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Fibromuscular Dysplasia Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Fibromuscular Dysplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Fibrous Dysplasia, Polyostotic Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Fibrous Dysplasia, Polyostotic phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Fibrous Dysplasia of Bone Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Fibrous Dysplasia of Bone phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Cleidocranial Dysplasia Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Cleidocranial Dysplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Uterine Cervical Dysplasia Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Uterine Cervical Dysplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Arrhythmogenic Right Ventricular Dysplasia Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Arrhythmogenic Right Ventricular Dysplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Adrenocortical dysplasia protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Adrenocortical dysplasia protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

?corneal intraepithelial dyskeratosis and ectodermal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?corneal intraepithelial dyskeratosis and ectodermal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

?epiphyseal dysplasia, multiple, 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?epiphyseal dysplasia, multiple, 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

spondyloperipheral dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondyloperipheral dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 10 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 10 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

acampomelic campomelic dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the acampomelic campomelic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

frontometaphyseal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the frontometaphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

campomelic dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the campomelic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

metaphyseal dysplasia without hypotrichosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the metaphyseal dysplasia without hypotrichosis phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 4 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 4 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

developmental dysplasia of the hip 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the developmental dysplasia of the hip 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

smith-mccort dysplasia 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the smith-mccort dysplasia 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

parietal foramina with cleidocranial dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the parietal foramina with cleidocranial dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

craniometaphyseal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the craniometaphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

renal-hepatic-pancreatic dysplasia 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the renal-hepatic-pancreatic dysplasia 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 6, hair/nail type Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 6, hair/nail type phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia/short stature syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia/short stature syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 6 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 6 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

craniofacial-skeletal-dermatologic dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the craniofacial-skeletal-dermatologic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

focal cortical dysplasia, taylor balloon cell type Gene Set

From OMIM Gene-Disease Associations

genes associated with the focal cortical dysplasia, taylor balloon cell type phenotype from the curated OMIM Gene-Disease Associations dataset.

thanatophoric dysplasia, type i Gene Set

From OMIM Gene-Disease Associations

genes associated with the thanatophoric dysplasia, type i phenotype from the curated OMIM Gene-Disease Associations dataset.

mandibuloacral dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the mandibuloacral dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia, ectrodactyly, and macular dystrophy Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia, ectrodactyly, and macular dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset.

diastrophic dysplasia, broad bone-platyspondylic variant Gene Set

From OMIM Gene-Disease Associations

genes associated with the diastrophic dysplasia, broad bone-platyspondylic variant phenotype from the curated OMIM Gene-Disease Associations dataset.

cleft lip/palate-ectodermal dysplasia syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the cleft lip/palate-ectodermal dysplasia syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

otospondylomegaepiphyseal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the otospondylomegaepiphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

boomerang dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the boomerang dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

frontonasal dysplasia 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the frontonasal dysplasia 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

frontonasal dysplasia 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the frontonasal dysplasia 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

craniolenticulosutural dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the craniolenticulosutural dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

cranioectodermal dysplasia 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cranioectodermal dysplasia 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

cranioectodermal dysplasia 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cranioectodermal dysplasia 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

cranioectodermal dysplasia 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cranioectodermal dysplasia 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

cranioectodermal dysplasia 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cranioectodermal dysplasia 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 7 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 7 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 3, witkop type Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 3, witkop type phenotype from the curated OMIM Gene-Disease Associations dataset.

spondylometaepiphyseal dysplasia, short limb-hand type Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondylometaepiphyseal dysplasia, short limb-hand type phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 7, hair/nail type Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 7, hair/nail type phenotype from the curated OMIM Gene-Disease Associations dataset.

oculodentodigital dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the oculodentodigital dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

greenberg skeletal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the greenberg skeletal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

acromesomelic dysplasia, maroteaux type Gene Set

From OMIM Gene-Disease Associations

genes associated with the acromesomelic dysplasia, maroteaux type phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 11 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 11 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 5, hair/nail type Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 5, hair/nail type phenotype from the curated OMIM Gene-Disease Associations dataset.

smith-mccort dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the smith-mccort dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

craniodiaphyseal dysplasia, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the craniodiaphyseal dysplasia, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

epiphyseal dysplasia, multiple, with myopathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the epiphyseal dysplasia, multiple, with myopathy phenotype from the curated OMIM Gene-Disease Associations dataset.

septooptic dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the septooptic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

acromesomelic dysplasia, hunter-thompson type Gene Set

From OMIM Gene-Disease Associations

genes associated with the acromesomelic dysplasia, hunter-thompson type phenotype from the curated OMIM Gene-Disease Associations dataset.

spondyloepimetaphyseal dysplasia, missouri type Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondyloepimetaphyseal dysplasia, missouri type phenotype from the curated OMIM Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia 11 Gene Set

From OMIM Gene-Disease Associations

genes associated with the arrhythmogenic right ventricular dysplasia 11 phenotype from the curated OMIM Gene-Disease Associations dataset.

macrocephaly with multiple epiphyseal dysplasia and distinctive facies Gene Set

From OMIM Gene-Disease Associations

genes associated with the macrocephaly with multiple epiphyseal dysplasia and distinctive facies phenotype from the curated OMIM Gene-Disease Associations dataset.

spondyloepiphyseal dysplasia tarda Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondyloepiphyseal dysplasia tarda phenotype from the curated OMIM Gene-Disease Associations dataset.

autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

spondyloepimetaphyseal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondyloepimetaphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 1, hypohidrotic, x-linked Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 1, hypohidrotic, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.

diastrophic dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the diastrophic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

platyspondylic skeletal dysplasia, torrance type Gene Set

From OMIM Gene-Disease Associations

genes associated with the platyspondylic skeletal dysplasia, torrance type phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia-syndactyly syndrome 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia-syndactyly syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

schneckenbecken dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the schneckenbecken dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

dentin dysplasia, type ii Gene Set

From OMIM Gene-Disease Associations

genes associated with the dentin dysplasia, type ii phenotype from the curated OMIM Gene-Disease Associations dataset.

de la chapelle dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the de la chapelle dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

cortical dysplasia-focal epilepsy syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the cortical dysplasia-focal epilepsy syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

craniometaphyseal dysplasia, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the craniometaphyseal dysplasia, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 4, hair/nail type Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 4, hair/nail type phenotype from the curated OMIM Gene-Disease Associations dataset.

alveolar capillary dysplasia with misalignment of pulmonary veins Gene Set

From OMIM Gene-Disease Associations

genes associated with the alveolar capillary dysplasia with misalignment of pulmonary veins phenotype from the curated OMIM Gene-Disease Associations dataset.

kniest dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the kniest dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

otodental dysplasia chromsome deletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the otodental dysplasia chromsome deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

epiphyseal dysplasia, multiple, with myopia and deafness Gene Set

From OMIM Gene-Disease Associations

genes associated with the epiphyseal dysplasia, multiple, with myopia and deafness phenotype from the curated OMIM Gene-Disease Associations dataset.

acrocapitofemoral dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the acrocapitofemoral dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

spondylometaphyseal dysplasia with cone-rod dystrophy Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondylometaphyseal dysplasia with cone-rod dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

spondyloepiphyseal dysplasia tarda with progressive arthropathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondyloepiphyseal dysplasia tarda with progressive arthropathy phenotype from the curated OMIM Gene-Disease Associations dataset.

craniofrontonasal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the craniofrontonasal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

{renal dysplasia, cystic, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {renal dysplasia, cystic, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

langer mesomelic dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the langer mesomelic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

vitreoretinopathy with phalangeal epiphyseal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the vitreoretinopathy with phalangeal epiphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

bent bone dysplasia syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the bent bone dysplasia syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

acromicric dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the acromicric dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 9 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 9 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

acropectorovertebral dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the acropectorovertebral dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

dentin dysplasia, type i, with microdontia and misshapen teeth Gene Set

From OMIM Gene-Disease Associations

genes associated with the dentin dysplasia, type i, with microdontia and misshapen teeth phenotype from the curated OMIM Gene-Disease Associations dataset.

?cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

spondylometaphyseal dysplasia, kozlowski type Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondylometaphyseal dysplasia, kozlowski type phenotype from the curated OMIM Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia 10 Gene Set

From OMIM Gene-Disease Associations

genes associated with the arrhythmogenic right ventricular dysplasia 10 phenotype from the curated OMIM Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia 12 Gene Set

From OMIM Gene-Disease Associations

genes associated with the arrhythmogenic right ventricular dysplasia 12 phenotype from the curated OMIM Gene-Disease Associations dataset.

hypoparathyroidism, sensorineural deafness, and renal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypoparathyroidism, sensorineural deafness, and renal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation-skeletal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation-skeletal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

desbuquois dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the desbuquois dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

spondylo-megaepiphyseal-metaphyseal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondylo-megaepiphyseal-metaphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

anauxetic dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the anauxetic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 3 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 3 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

epiphyseal dysplasia, multiple 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epiphyseal dysplasia, multiple 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 9, hair/nail type Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 9, hair/nail type phenotype from the curated OMIM Gene-Disease Associations dataset.

cleidocranial dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the cleidocranial dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia/skin fragility syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia/skin fragility syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

gnathodiaphyseal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the gnathodiaphyseal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

focal facial dermal dysplasia 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the focal facial dermal dysplasia 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the arrhythmogenic right ventricular dysplasia 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

spondyloepimetaphyseal dysplasia with joint laxity, type 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondyloepimetaphyseal dysplasia with joint laxity, type 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 8, hair/tooth/nail type Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 8, hair/tooth/nail type phenotype from the curated OMIM Gene-Disease Associations dataset.

schimke immunoosseous dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the schimke immunoosseous dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia, hypohidrotic, with immune deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia, hypohidrotic, with immune deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 8 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 8 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia-syndactyly syndrome 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia-syndactyly syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia, familial, 13 Gene Set

From OMIM Gene-Disease Associations

genes associated with the arrhythmogenic right ventricular dysplasia, familial, 13 phenotype from the curated OMIM Gene-Disease Associations dataset.

mandibuloacral dysplasia with type b lipodystrophy Gene Set

From OMIM Gene-Disease Associations

genes associated with the mandibuloacral dysplasia with type b lipodystrophy phenotype from the curated OMIM Gene-Disease Associations dataset.

desbuquois dysplasia 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the desbuquois dysplasia 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

?frontonasal dysplasia 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?frontonasal dysplasia 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

epiphyseal dysplasia, multiple, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epiphyseal dysplasia, multiple, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

epiphyseal dysplasia, multiple, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epiphyseal dysplasia, multiple, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

epiphyseal dysplasia, multiple, 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epiphyseal dysplasia, multiple, 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

epiphyseal dysplasia, multiple, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epiphyseal dysplasia, multiple, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

cardiac valvular dysplasia, x-linked Gene Set

From OMIM Gene-Disease Associations

genes associated with the cardiac valvular dysplasia, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.

campomelic dysplasia with autosomal sex reversal Gene Set

From OMIM Gene-Disease Associations

genes associated with the campomelic dysplasia with autosomal sex reversal phenotype from the curated OMIM Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the arrhythmogenic right ventricular dysplasia 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the arrhythmogenic right ventricular dysplasia 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the arrhythmogenic right ventricular dysplasia 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the arrhythmogenic right ventricular dysplasia 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the arrhythmogenic right ventricular dysplasia 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia 9 Gene Set

From OMIM Gene-Disease Associations

genes associated with the arrhythmogenic right ventricular dysplasia 9 phenotype from the curated OMIM Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia 8 Gene Set

From OMIM Gene-Disease Associations

genes associated with the arrhythmogenic right ventricular dysplasia 8 phenotype from the curated OMIM Gene-Disease Associations dataset.

geleophysic dysplasia 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the geleophysic dysplasia 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

geleophysic dysplasia 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the geleophysic dysplasia 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

dyssegmental dysplasia, silverman-handmaker type Gene Set

From OMIM Gene-Disease Associations

genes associated with the dyssegmental dysplasia, silverman-handmaker type phenotype from the curated OMIM Gene-Disease Associations dataset.

gracile bone dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the gracile bone dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 2 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 2 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

odontoonychodermal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the odontoonychodermal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

hip dysplasia, beukes type Gene Set

From OMIM Gene-Disease Associations

genes associated with the hip dysplasia, beukes type phenotype from the curated OMIM Gene-Disease Associations dataset.

cleidocranial dysplasia, forme fruste, with brachydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the cleidocranial dysplasia, forme fruste, with brachydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

cortical dysplasia, complex, with other brain malformations 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cortical dysplasia, complex, with other brain malformations 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

cortical dysplasia, complex, with other brain malformations 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cortical dysplasia, complex, with other brain malformations 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

cortical dysplasia, complex, with other brain malformations 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cortical dysplasia, complex, with other brain malformations 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

cortical dysplasia, complex, with other brain malformations 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cortical dysplasia, complex, with other brain malformations 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

cortical dysplasia, complex, with other brain malformations 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cortical dysplasia, complex, with other brain malformations 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

cortical dysplasia, complex, with other brain malformations 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cortical dysplasia, complex, with other brain malformations 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair Gene Set

From OMIM Gene-Disease Associations

genes associated with the arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair phenotype from the curated OMIM Gene-Disease Associations dataset.

focal facial dermal dysplasia 3, setleis type Gene Set

From OMIM Gene-Disease Associations

genes associated with the focal facial dermal dysplasia 3, setleis type phenotype from the curated OMIM Gene-Disease Associations dataset.

short-rib thoracic dysplasia 5 with or without polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the short-rib thoracic dysplasia 5 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

czech dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the czech dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

spondyloepimetaphyseal dysplasia, aggrecan type Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondyloepimetaphyseal dysplasia, aggrecan type phenotype from the curated OMIM Gene-Disease Associations dataset.

oculodentodigital dysplasia, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the oculodentodigital dysplasia, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

mesomelic dysplasia, kantaputra type Gene Set

From OMIM Gene-Disease Associations

genes associated with the mesomelic dysplasia, kantaputra type phenotype from the curated OMIM Gene-Disease Associations dataset.

cleidocranial dysplasia, forme fruste, dental anomalies only Gene Set

From OMIM Gene-Disease Associations

genes associated with the cleidocranial dysplasia, forme fruste, dental anomalies only phenotype from the curated OMIM Gene-Disease Associations dataset.

spondyloepiphyseal dysplasia, kimberley type Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondyloepiphyseal dysplasia, kimberley type phenotype from the curated OMIM Gene-Disease Associations dataset.

metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

metatropic dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the metatropic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

thanatophoric dysplasia, type ii Gene Set

From OMIM Gene-Disease Associations

genes associated with the thanatophoric dysplasia, type ii phenotype from the curated OMIM Gene-Disease Associations dataset.

?renal-hepatic-pancreatic dysplasia 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?renal-hepatic-pancreatic dysplasia 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

osteoglophonic dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the osteoglophonic dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

spondyloepiphyseal dysplasia with congenital joint dislocations Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondyloepiphyseal dysplasia with congenital joint dislocations phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 2, clouston type Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 2, clouston type phenotype from the curated OMIM Gene-Disease Associations dataset.

Defective TBXAS1 causes Ghosal hematodiaphyseal dysplasia (GHDD) Gene Set

From Reactome Pathways 2014

proteins participating in the Defective TBXAS1 causes Ghosal hematodiaphyseal dysplasia (GHDD) pathway from the Reactome Pathways dataset.

Defective CYP26C1 causes Focal facial dermal dysplasia 4 (FFDD4) Gene Set

From Reactome Pathways 2014

proteins participating in the Defective CYP26C1 causes Focal facial dermal dysplasia 4 (FFDD4) pathway from the Reactome Pathways dataset.

Defective SLC35D1 causes Schneckenbecken dysplasia (SCHBCKD) Gene Set

From Reactome Pathways 2014

proteins participating in the Defective SLC35D1 causes Schneckenbecken dysplasia (SCHBCKD) pathway from the Reactome Pathways dataset.

chronic ulcerative colitis (CUC), ulcerative colitis?associated dysplasia (UCD), colitis-associated cancer (CAC) Gene Set

From PhosphoSitePlus Phosphosite-Disease Associations

proteins associated with the disease chronic ulcerative colitis (CUC), ulcerative colitis?associated dysplasia (UCD), colitis-associated cancer (CAC) from the curated PhosphoSitePlus Phosphosite-Disease Associations dataset.

Congenital Dysplasia Of The Hip Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Dysplasia Of The Hip in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Nail Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Alveolar Capillary Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Bronchopulmonary Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Acute Myeloid Leukemia With Multilineage Dysplasia Following Myelodysplastic Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Acute Myeloid Leukemia With Multilineage Dysplasia Following Myelodysplastic Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Pyle Metaphyseal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Skeletal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Ectodermal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Dysplasia Of Anus Gene Set

From DisGeNET Gene-Disease Associations

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

Multiple Epiphyseal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Spondyloepiphyseal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Polyostotic Fibrous Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Arrhythmogenic Right Ventricular Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Arrhythmogenic Right Ventricular Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Campomelic Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Craniometaphyseal Dysplasia, Autosomal Dominant Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Craniometaphyseal Dysplasia, Autosomal Dominant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Diastrophic Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Mild Bronchopulmonary Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Neuronal Intestinal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Thanatophoric Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Thanatophoric Dysplasia, Type I (Disorder) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Thanatophoric Dysplasia, Type I (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Fibrous Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Primary Pigmented Nodular Adrenal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Primary Pigmented Nodular Adrenal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Progressive Pseudorheumatoid Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Cervical Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Fibromuscular Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Smith-Mccort Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Dentin Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Lethal Skeletal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Bone Marrow Myeloid Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Bone Marrow Myeloid Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Acromicric Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Cleidocranial Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Geleophysic Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Craniofacial Fibrous Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Hip Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Cortical Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Esophageal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Mesomelic Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Focal Cortical Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Spondylometaphyseal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Mitral Valve Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Autoimmune Polyendocrinopathy Syndrome, Type I, With Reversible Metaphyseal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Autoimmune Polyendocrinopathy Syndrome, Type I, With Reversible Metaphyseal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Schimke Immunoosseous Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Focal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Renal Dysplasia And Retinal Aplasia (Disorder) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Renal Dysplasia And Retinal Aplasia (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Craniofrontonasal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Frontonasal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Frontonasal Dysplasia, Severe Microphthalmia, Severe Facial Clefting Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Frontonasal Dysplasia, Severe Microphthalmia, Severe Facial Clefting Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Osteofibrous Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Craniodiaphyseal Dysplasia, Autosomal Dominant (Disorder) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Craniodiaphyseal Dysplasia, Autosomal Dominant (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cranioectodermal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Craniometaphyseal Dysplasia, Autosomal Recessive Type Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Craniometaphyseal Dysplasia, Autosomal Recessive Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Septo-Optic Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Frontometaphyseal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Renal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Prostatic Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Refractory Cytopenia With Multilineage Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Refractory Cytopenia With Multilineage Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Epiphyseal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Renal Cell Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Retinal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Hidrotic Ectodermal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Chorioretinal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Spondyloepimetaphyseal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Gastric Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Cystic Renal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Acromesomelic Dysplasia Hunter-Thompson Type Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Acromesomelic Dysplasia Hunter-Thompson Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Acromesomelic Dysplasia, Demirhan Type Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Acromesomelic Dysplasia, Demirhan Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Unilateral Renal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Desbuquois Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Cerebellar Cortical Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Severe Bronchopulmonary Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Dysplasia Of Larynx Gene Set

From DisGeNET Gene-Disease Associations

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

Moderate Pancreatic Duct Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Moderate Pancreatic Duct Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Refractory Cytopenia With Multilineage Dysplasia (Rcmd) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Refractory Cytopenia With Multilineage Dysplasia (Rcmd) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Dyssegmental Dysplasia, Rolland-Desbuquois Type Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Dyssegmental Dysplasia, Rolland-Desbuquois Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hyper-Igm Immunodeficiency, X-Linked, With Ectodermal Dysplasia, Hypohidrotic Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hyper-Igm Immunodeficiency, X-Linked, With Ectodermal Dysplasia, Hypohidrotic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Transitional Cell Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Acampomelic Campomelic Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Craniodiaphyseal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short-Rib Thoracic Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Short-Rib Thoracic Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hydranencephaly With Renal Aplasia-Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hydranencephaly With Renal Aplasia-Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Renal Hepatic Pancreatic Dysplasia Dandy Walker Cyst Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Renal Hepatic Pancreatic Dysplasia Dandy Walker Cyst in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Thymic Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Bilateral Renal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Maxillonasal Dysplasia, Binder Type Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Maxillonasal Dysplasia, Binder Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Skeleton Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Cortical Dysplasia With Focal Epilepsy Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Cortical Dysplasia With Focal Epilepsy Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Otospondylomegaepiphyseal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Congenital Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Czech Dysplasia, Metatarsal Type Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Czech Dysplasia, Metatarsal Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Kniest Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Namaqualand Hip Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Platyspondylic Lethal Skeletal Dysplasia, Torrance Type Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Platyspondylic Lethal Skeletal Dysplasia, Torrance Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Spondyloperipheral Dysplasia Short Ulna Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Spondyloperipheral Dysplasia Short Ulna in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Oculoskeletal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Epiphyseal Dysplasia, Multiple, With Myopathy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Epiphyseal Dysplasia, Multiple, With Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Pontine Tegmental Cap Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Pontine Tegmental Cap Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Dysplasia Of Colon Gene Set

From DisGeNET Gene-Disease Associations

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

Hip Dysplasia, Beukes Type Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hip Dysplasia, Beukes Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Focal Facial Dermal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Focal Facial Dermal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Focal Facial Dermal Dysplasia 4 Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Focal Facial Dermal Dysplasia 4 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Ghosal Hematodiaphyseal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Focal Cortical Dysplasia Type Iia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Focal Cortical Dysplasia Type Iia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Bronchial Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Squamous Lung Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Fingernail Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Short Rib Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Autosomal Dominant Hypohidrotic Ectodermal Dysplasia Syndrome (Disorder) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Autosomal Dominant Hypohidrotic Ectodermal Dysplasia Syndrome (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Langer Mesomelic Dysplasia Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Langer Mesomelic Dysplasia Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Intestinal Epithelial Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Bone Marrow Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Dysplasia Epiphysealis Hemimelica Gene Set

From DisGeNET Gene-Disease Associations

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

Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Gracile Bone Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Hem Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Bent Bone Dysplasia Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Bent Bone Dysplasia Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Otodental Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Bent Bone Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Congenital Pulmonary Acinar Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Pulmonary Acinar Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Skeletal Dysplasia With Acanthosis Nigricans Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Skeletal Dysplasia With Acanthosis Nigricans in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cardiac Valvular Dysplasia, X-Linked Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Cardiac Valvular Dysplasia, X-Linked in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Boomerang Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Fibrocartilaginous Dysplasia Of Bone Gene Set

From DisGeNET Gene-Disease Associations

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

Fibrocystic Dysplasia Of Bone Gene Set

From DisGeNET Gene-Disease Associations

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

Caudal Dysplasia Syndrome Gene Set

From DisGeNET Gene-Disease Associations

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

Acromesomelic Dysplasia, Maroteaux Type Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Acromesomelic Dysplasia, Maroteaux Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Angel Shaped Phalangoepiphyseal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Angel Shaped Phalangoepiphyseal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Developmental Dysplasia Of The Hip 1 Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Developmental Dysplasia Of The Hip 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hip Dysplasia, Congenital, Nonsyndromic Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hip Dysplasia, Congenital, Nonsyndromic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Focal Cortical Dysplasia Type Iib Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Focal Cortical Dysplasia Type Iib in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Oculodentodigital Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Fibrous Dysplasia Of Bone With Intramuscular Myxoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Fibrous Dysplasia Of Bone With Intramuscular Myxoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Fibrous Dysplasia, Monostotic Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Fibrous Dysplasia, Monostotic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Polyostotic Fibrous Dysplasia, Somatic, Mosaic Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Polyostotic Fibrous Dysplasia, Somatic, Mosaic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Multicystic Renal Dysplasia, Bilateral Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Multicystic Renal Dysplasia, Bilateral in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Genitourinary Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Dyssegmental Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Thoracic Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Acrocapitofemoral Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Acropectorovertebral Dysplasia, F-Form Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Acropectorovertebral Dysplasia, F-Form in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Renal Dysplasia Diffuse Cystic Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Renal Dysplasia Diffuse Cystic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Schneckenbecken Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Bladder Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Hair-Nail Ectodermal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hair-Nail Ectodermal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Bent Bone Dysplasia Group Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Bent Bone Dysplasia Group in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Stuve-Wiedemann Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Osteosclerotic Metaphyseal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Parietal Foramina With Cleidocranial Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Parietal Foramina With Cleidocranial Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Focal Cortical Dysplasia Of Taylor Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Focal Cortical Dysplasia Of Taylor in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Acrocephalopolydactylous Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Renal-Hepatic-Pancreatic Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Renal-Hepatic-Pancreatic Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Spondylo-Megaepiphyseal-Metaphyseal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Spondylo-Megaepiphyseal-Metaphyseal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Diencephalic Mesencephalic Junction Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Diencephalic Mesencephalic Junction Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Blomstrand Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Congenital Glenoid Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Kyphomelic Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Cervical Vertebral Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Anauxetic Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Anauxetic Dysplasia 2 Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Anauxetic Dysplasia 2 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Ectodermal Dysplasia Of Face Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Ectodermal Dysplasia Of Face in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Eiken Skeletal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Metaphyseal Dysplasia With Maxillary Hypoplasia And Brachydactyly Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Metaphyseal Dysplasia With Maxillary Hypoplasia And Brachydactyly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Craniolenticulosutural Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Refractory Cytopenia With Multilineage Dysplasia And Ringed Sideroblasts Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Refractory Cytopenia With Multilineage Dysplasia And Ringed Sideroblasts in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

De La Chapelle Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease De La Chapelle Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Dentin Dysplasia, Type I, With Extreme Microdontia And Misshapen Teeth Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Dentin Dysplasia, Type I, With Extreme Microdontia And Misshapen Teeth in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Campomelic Dysplasia With Autosomal Sex Reversal Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Campomelic Dysplasia With Autosomal Sex Reversal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Pelviscapular Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Diaphyseal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Cerebrofaciothoracic Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Ulcerative Colitis-Associated Low-Grade Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Ulcerative Colitis-Associated Low-Grade Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Trichorhinophalangeal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Metatropic Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Isolated Focal Cortical Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Isolated Focal Cortical Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Frontoparietal Cortical Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Placental Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Odonto-Onycho-Dermal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Odonto-Onycho-Dermal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Odontoonychodermal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Mandibuloacral Dysplasia With Type B Lipodystrophy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Mandibuloacral Dysplasia With Type B Lipodystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Acromelic Frontonasal Dysplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Toenail Dysplasia Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Toenail Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Cerebellar Dysplasia Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Cerebellar Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Spondyloepimetaphyseal Dysplasia Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Spondyloepimetaphyseal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Optic Nerve Dysplasia Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Optic Nerve Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Micromelic Dysplasia, Congenital, With Dislocation Of Radius Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Micromelic Dysplasia, Congenital, With Dislocation Of Radius in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Dysplasia Of The Femoral Head Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Dysplasia Of The Femoral Head in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Brainstem Dysplasia Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Brainstem Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short-Rib Thoracic Dysplasia Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short-Rib Thoracic Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Osteofibrous Dysplasia, Susceptibility To Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Osteofibrous Dysplasia, Susceptibility To in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Megakaryocyte Dysplasia Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Megakaryocyte Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Arrhythmogenic Right Ventricular Dysplasia Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Arrhythmogenic Right Ventricular Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Cerebro-Facio-Thoracic Dysplasia Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Cerebro-Facio-Thoracic Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Multiple epiphyseal dysplasia and pseudoachondroplasia genes Gene Set

From WikiPathways Pathways 2024

proteins participating in the Multiple epiphyseal dysplasia and pseudoachondroplasia genes pathway from the WikiPathways Pathways 2024 dataset.

IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR) Gene Set

From Reactome Pathways 2024

proteins participating in the IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR) pathway from the Reactome Pathways 2024 dataset.

Spondyloepiphyseal dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Spondyloepiphyseal dysplasia tarda Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

X-linked spondyloepiphyseal dysplasia tarda Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease X-linked spondyloepiphyseal dysplasia tarda from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Campomelic dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Spondyloepimetaphyseal dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Metatropic dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

short-rib thoracic dysplasia 9 with or without polydactyly Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease short-rib thoracic dysplasia 9 with or without polydactyly from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Osteoglophonic dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Hypohidrotic ectodermal dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Ectodermal dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Anauxetic dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Cranioectodermal dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Multiple epiphyseal dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Septooptic dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Ectodermal dysplasia and immune deficiency Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Ectodermal dysplasia and immune deficiency from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Frontonasal dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Boomerang dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Metaphyseal dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Greenberg dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Thanatophoric dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Diastrophic dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Craniometaphyseal dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Oculodentodigital dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Geleophysic dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

SOST-related sclerosing bone dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease SOST-related sclerosing bone dysplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Acromicric dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Gnathodiaphyseal dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Otospondylomegaepiphyseal dysplasia, autosomal dominant Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Otospondylomegaepiphyseal dysplasia, autosomal dominant from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Otospondylomegaepiphyseal dysplasia, autosomal recessive Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Otospondylomegaepiphyseal dysplasia, autosomal recessive from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Mandibuloacral dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Spondyloepiphyseal dysplasia with congenital joint dislocations Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Spondyloepiphyseal dysplasia with congenital joint dislocations from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Spondyloperipheral dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Torrance type platyspondylic dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Torrance type platyspondylic dysplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Kniest dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Spondyloepiphyseal dysplasia congenita Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Frontometaphyseal dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

X-linked cardiac valvular dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease X-linked cardiac valvular dysplasia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Cleidocranial dysplasia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Spondyloepimetaphyseal dysplasia with joint laxity type 1 Gene Set

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

genes co-occuring with the disease Spondyloepimetaphyseal dysplasia with joint laxity type 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Spondyloepimetaphyseal dysplasia with joint laxity Gene Set

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

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

Campomelic dysplasia Gene Set

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

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

Acromesomelic dysplasia Gene Set

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

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

Spondyloepimetaphyseal dysplasia Gene Set

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

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

Frontonasal dysplasia Gene Set

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

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

Cleidocranial dysplasia Gene Set

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

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

Acrocapitofemoral dysplasia Gene Set

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

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

Spondyloepiphyseal dysplasia Gene Set

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

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

Spondyloepiphyseal dysplasia with congenital joint dislocations Gene Set

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

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

Desbuquois dysplasia Gene Set

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

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

Geleophysic dysplasia 1 Gene Set

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

genes co-occuring with the disease Geleophysic dysplasia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Bronchopulmonary dysplasia Gene Set

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

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

Diastrophic dysplasia Gene Set

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

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

Ectodermal dysplasia Gene Set

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

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

Gnathodiaphyseal dysplasia Gene Set

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

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

Arrhythmogenic right ventricular dysplasia 11 Gene Set

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

genes co-occuring with the disease Arrhythmogenic right ventricular dysplasia 11 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Frontometaphyseal dysplasia Gene Set

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

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

Hypohidrotic ectodermal dysplasia Gene Set

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

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

Oculodentodigital dysplasia Gene Set

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

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

Smith-McCort dysplasia Gene Set

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

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

Greenberg dysplasia Gene Set

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

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

Multiple epiphyseal dysplasia 1 Gene Set

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

genes co-occuring with the disease Multiple epiphyseal dysplasia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Craniolenticulosutural dysplasia Gene Set

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

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

Ectodermal dysplasia 1 Gene Set

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

genes co-occuring with the disease Ectodermal dysplasia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Frontonasal dysplasia 2 Gene Set

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

genes co-occuring with the disease Frontonasal dysplasia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Thanatophoric dysplasia Gene Set

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

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

SOST-related sclerosing bone dysplasia Gene Set

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

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

Craniodiaphyseal dysplasia Gene Set

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

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

Geleophysic dysplasia Gene Set

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

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

Metaphyseal dysplasia Gene Set

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

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

Cranioectodermal dysplasia Gene Set

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

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

short-rib thoracic dysplasia 9 with or without polydactyly Gene Set

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

genes co-occuring with the disease short-rib thoracic dysplasia 9 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Developmental dysplasia of the hip Gene Set

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

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

Spondyloepiphyseal dysplasia tarda Gene Set

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

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

X-linked spondyloepiphyseal dysplasia tarda Gene Set

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

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

Dentin dysplasia Gene Set

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

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

Benign mammary dysplasia Gene Set

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

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

Craniometaphyseal dysplasia Gene Set

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

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

Osteoglophonic dysplasia Gene Set

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

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

Geleophysic dysplasia 3 Gene Set

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

genes co-occuring with the disease Geleophysic dysplasia 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Geleophysic dysplasia 2 Gene Set

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

genes co-occuring with the disease Geleophysic dysplasia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Pure hair and nail ectodermal dysplasia Gene Set

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

genes co-occuring with the disease Pure hair and nail ectodermal dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Thymic dysplasia Gene Set

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

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

Anauxetic dysplasia Gene Set

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

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

Ectodermal dysplasia and immune deficiency Gene Set

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

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

Fibrous dysplasia Gene Set

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

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

Developmental dysplasia of the hip 2 Gene Set

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

genes co-occuring with the disease Developmental dysplasia of the hip 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Developmental dysplasia of the hip 1 Gene Set

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

genes co-occuring with the disease Developmental dysplasia of the hip 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Mandibuloacral dysplasia Gene Set

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

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

Arrhythmogenic right ventricular dysplasia 1 Gene Set

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

genes co-occuring with the disease Arrhythmogenic right ventricular dysplasia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Spondylometaphyseal dysplasia Gene Set

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

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

Schneckenbecken dysplasia Gene Set

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

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

Spondyloepimetaphyseal dysplasia with joint laxity type 2 Gene Set

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

genes co-occuring with the disease Spondyloepimetaphyseal dysplasia with joint laxity type 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Spondyloepiphyseal dysplasia Kimberley type Gene Set

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

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

X-linked cardiac valvular dysplasia Gene Set

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

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

Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly Gene Set

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

genes co-occuring with the disease Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

short-rib thoracic dysplasia 6 with or without polydactyly Gene Set

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

genes co-occuring with the disease short-rib thoracic dysplasia 6 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Boomerang dysplasia Gene Set

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

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

Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome Gene Set

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

genes co-occuring with the disease Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Cleft lip-palate-ectodermal dysplasia syndrome Gene Set

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

genes co-occuring with the disease Cleft lip-palate-ectodermal dysplasia syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Arrhythmogenic right ventricular dysplasia 5 Gene Set

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

genes co-occuring with the disease Arrhythmogenic right ventricular dysplasia 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Arrhythmogenic right ventricular dysplasia 4 Gene Set

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

genes co-occuring with the disease Arrhythmogenic right ventricular dysplasia 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Kniest dysplasia Gene Set

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

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

Multiple epiphyseal dysplasia Gene Set

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

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

Beukes hip dysplasia Gene Set

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

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

Metatropic dysplasia Gene Set

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

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

Ectodermal dysplasia 9 Gene Set

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

genes co-occuring with the disease Ectodermal dysplasia 9 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Septooptic dysplasia Gene Set

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

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

Spondylometaphyseal dysplasia Sedaghatian type Gene Set

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

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

Acromicric dysplasia Gene Set

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

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

Multiple epiphyseal dysplasia 5 Gene Set

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

genes co-occuring with the disease Multiple epiphyseal dysplasia 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Spondyloperipheral dysplasia Gene Set

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

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

Torrance type platyspondylic dysplasia Gene Set

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

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

Spondyloepiphyseal dysplasia congenita Gene Set

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

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

Otospondylomegaepiphyseal dysplasia, autosomal recessive Gene Set

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

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

Frontonasal dysplasia 3 Gene Set

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

genes co-occuring with the disease Frontonasal dysplasia 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Axial spondylometaphyseal dysplasia Gene Set

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

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

Cortical dysplasia-focal epilepsy syndrome Gene Set

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

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

ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 Gene Set

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

genes co-occuring with the disease ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Arrhythmogenic right ventricular dysplasia 8 Gene Set

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

genes co-occuring with the disease Arrhythmogenic right ventricular dysplasia 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Arrhythmogenic right ventricular dysplasia 9 Gene Set

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

genes co-occuring with the disease Arrhythmogenic right ventricular dysplasia 9 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Arrhythmogenic right ventricular dysplasia 6 Gene Set

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

genes co-occuring with the disease Arrhythmogenic right ventricular dysplasia 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Arrhythmogenic right ventricular dysplasia 12 Gene Set

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

genes co-occuring with the disease Arrhythmogenic right ventricular dysplasia 12 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Arrhythmogenic right ventricular dysplasia 10 Gene Set

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

genes co-occuring with the disease Arrhythmogenic right ventricular dysplasia 10 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Arrhythmogenic right ventricular dysplasia 13 Gene Set

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

genes co-occuring with the disease Arrhythmogenic right ventricular dysplasia 13 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Spondyloepiphyseal dysplasia Maroteaux type Gene Set

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

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

Spondyloepimetaphyseal dysplasia, Strudwick type Gene Set

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

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

Complex cortical dysplasia with other brain malformations 2 Gene Set

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

genes co-occuring with the disease Complex cortical dysplasia with other brain malformations 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Acromesomelic dysplasia, Maroteaux type Gene Set

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

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

Spondylometaphyseal dysplasia with cone-rod dystrophy Gene Set

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

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

Metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome Gene Set

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

genes co-occuring with the disease Metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

short-rib thoracic dysplasia 10 with or without polydactyly Gene Set

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

genes co-occuring with the disease short-rib thoracic dysplasia 10 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Anauxetic dysplasia 2 Gene Set

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

genes co-occuring with the disease Anauxetic dysplasia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Spondylometaphyseal dysplasia Megarbane-Dagher-Melike type Gene Set

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

genes co-occuring with the disease Spondylometaphyseal dysplasia Megarbane-Dagher-Melike type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Midface dysplasia Gene Set

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

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

Acromesomelic dysplasia, Hunter-Thompson type Gene Set

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

genes co-occuring with the disease Acromesomelic dysplasia, Hunter-Thompson type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Osteosclerotic metaphyseal dysplasia Gene Set

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

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

Spondylometaphyseal dysplasia Kozlowski type Gene Set

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

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

Multiple epiphyseal dysplasia 3 Gene Set

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

genes co-occuring with the disease Multiple epiphyseal dysplasia 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Multiple epiphyseal dysplasia due to collagen 9 anomaly Gene Set

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

genes co-occuring with the disease Multiple epiphyseal dysplasia due to collagen 9 anomaly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Spondyloepimetaphyseal dysplasia, Sponastrime type Gene Set

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

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

Diffuse cystic renal dysplasia Gene Set

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

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

Complex cortical dysplasia with other brain malformations Gene Set

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

genes co-occuring with the disease Complex cortical dysplasia with other brain malformations in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Acromesomelic dysplasia, Grebe type Gene Set

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

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

renal-hepatic-pancreatic dysplasia Gene Set

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

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

ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 Gene Set

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

genes co-occuring with the disease ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Spondyloepimetaphyseal dysplasia, Genevieve-type Gene Set

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

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

Frontometaphyseal dysplasia 2 Gene Set

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

genes co-occuring with the disease Frontometaphyseal dysplasia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Ectodermal dysplasia and immunodeficiency 1 Gene Set

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

genes co-occuring with the disease Ectodermal dysplasia and immunodeficiency 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Cranioectodermal dysplasia 1 Gene Set

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

genes co-occuring with the disease Cranioectodermal dysplasia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Complex cortical dysplasia with other brain malformations 7 Gene Set

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

genes co-occuring with the disease Complex cortical dysplasia with other brain malformations 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Craniotubular dysplasia Ikegawa type Gene Set

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

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

Frontonasal dysplasia 1 Gene Set

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

genes co-occuring with the disease Frontonasal dysplasia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Ectodermal dysplasia and immunodeficiency 2 Gene Set

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

genes co-occuring with the disease Ectodermal dysplasia and immunodeficiency 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Spondyloepimetaphyseal dysplasia, Missouri type Gene Set

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

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

X-linked spondyloepimetaphyseal dysplasia Gene Set

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

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

short-rib thoracic dysplasia 14 with polydactyly Gene Set

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

genes co-occuring with the disease short-rib thoracic dysplasia 14 with polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Spondylometaepiphyseal dysplasia, short limb-hand type Gene Set

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

genes co-occuring with the disease Spondylometaepiphyseal dysplasia, short limb-hand type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Complex cortical dysplasia with other brain malformations 6 Gene Set

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

genes co-occuring with the disease Complex cortical dysplasia with other brain malformations 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Multiple epiphyseal dysplasia 4 Gene Set

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

genes co-occuring with the disease Multiple epiphyseal dysplasia 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Autosomal dominant craniometaphyseal dysplasia Gene Set

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

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

Cranioectodermal dysplasia 4 Gene Set

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

genes co-occuring with the disease Cranioectodermal dysplasia 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Ectodermal dysplasia 10B Gene Set

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

genes co-occuring with the disease Ectodermal dysplasia 10B in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Ectodermal dysplasia 10A Gene Set

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

genes co-occuring with the disease Ectodermal dysplasia 10A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Ectodermal dysplasia 11B Gene Set

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

genes co-occuring with the disease Ectodermal dysplasia 11B in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Ectodermal dysplasia 11A Gene Set

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

genes co-occuring with the disease Ectodermal dysplasia 11A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Ectodermal dysplasia 4 Gene Set

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

genes co-occuring with the disease Ectodermal dysplasia 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Ectodermal dysplasia 13 Gene Set

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

genes co-occuring with the disease Ectodermal dysplasia 13 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Ectodermal dysplasia 14 Gene Set

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

genes co-occuring with the disease Ectodermal dysplasia 14 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Anauxetic dysplasia 1 Gene Set

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

genes co-occuring with the disease Anauxetic dysplasia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Multiple epiphyseal dysplasia 7 Gene Set

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

genes co-occuring with the disease Multiple epiphyseal dysplasia 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Ectodermal dysplasia 5 Gene Set

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

genes co-occuring with the disease Ectodermal dysplasia 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Ectodermal dysplasia 6 Gene Set

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

genes co-occuring with the disease Ectodermal dysplasia 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Ectodermal dysplasia 7 Gene Set

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

genes co-occuring with the disease Ectodermal dysplasia 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

short-rib thoracic dysplasia 8 with or without polydactyly Gene Set

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

genes co-occuring with the disease short-rib thoracic dysplasia 8 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Spondylometaphyseal dysplasia with corneal dystrophy Gene Set

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

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

Autosomal recessive craniometaphyseal dysplasia Gene Set

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

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

Frontometaphyseal dysplasia 1 Gene Set

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

genes co-occuring with the disease Frontometaphyseal dysplasia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Smith-McCort dysplasia 2 Gene Set

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

genes co-occuring with the disease Smith-McCort dysplasia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Spondylometaphyseal dysplasia corner fracture type Gene Set

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

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

Spondyloepiphyseal dysplasia Nishimura type Gene Set

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

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

short-rib thoracic dysplasia 11 with or without polydactyly Gene Set

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

genes co-occuring with the disease short-rib thoracic dysplasia 11 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Mandibuloacral dysplasia type A lipodystrophy Gene Set

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

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

short-rib thoracic dysplasia 13 with or without polydactyly Gene Set

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

genes co-occuring with the disease short-rib thoracic dysplasia 13 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

short-rib thoracic dysplasia 7 with or without polydactyly Gene Set

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

genes co-occuring with the disease short-rib thoracic dysplasia 7 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Ectodermal dysplasia 12 Gene Set

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

genes co-occuring with the disease Ectodermal dysplasia 12 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Otospondylomegaepiphyseal dysplasia, autosomal dominant Gene Set

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

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

Cranioectodermal dysplasia 2 Gene Set

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

genes co-occuring with the disease Cranioectodermal dysplasia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Multiple epiphyseal dysplasia with myopia and deafness Gene Set

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

genes co-occuring with the disease Multiple epiphyseal dysplasia with myopia and deafness in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Spondyloepimetaphyseal dysplasia with joint laxity type 3 Gene Set

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

genes co-occuring with the disease Spondyloepimetaphyseal dysplasia with joint laxity type 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Smith-McCort dysplasia 1 Gene Set

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

genes co-occuring with the disease Smith-McCort dysplasia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Autosomal dominant craniodiaphyseal dysplasia Gene Set

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

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

Arrhythmogenic right ventricular dysplasia 3 Gene Set

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

genes co-occuring with the disease Arrhythmogenic right ventricular dysplasia 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Silverman-Handmaker type dyssegmental dysplasia Gene Set

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

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

Neuronal intestinal dysplasia type B Gene Set

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

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

Spondyloepiphyseal dysplasia Kondo-Fu type Gene Set

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

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

Spondyloepimetaphyseal dysplasia, Pakistani type Gene Set

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

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

Complex cortical dysplasia with other brain malformations 3 Gene Set

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

genes co-occuring with the disease Complex cortical dysplasia with other brain malformations 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Multiple epiphyseal dysplasia 2 Gene Set

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

genes co-occuring with the disease Multiple epiphyseal dysplasia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Complex cortical dysplasia with other brain malformations 1 Gene Set

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

genes co-occuring with the disease Complex cortical dysplasia with other brain malformations 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis Gene Set

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

genes co-occuring with the disease Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Spondylometaphyseal dysplasia Algerian type Gene Set

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

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

Autosomal recessive spondyloepiphyseal dysplasia tarda Gene Set

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

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

Autosomal dominant spondyloepiphyseal dysplasia tarda Gene Set

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

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

Acromesomelic dysplasia-3 Gene Set

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

genes co-occuring with the disease Acromesomelic dysplasia-3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Desbuquois dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Desbuquois dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Geleophysic dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Geleophysic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Lethal short-limb skeletal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Lethal short-limb skeletal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Arrhythmogenic right ventricular dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Arrhythmogenic right ventricular dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Familial isolated arrhythmogenic right ventricular dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Familial isolated arrhythmogenic right ventricular dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Spondyloepiphyseal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Spondyloepiphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Renal dysplasia and retinal aplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Renal dysplasia and retinal aplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Gnathodiaphyseal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Gnathodiaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Camptomelic dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Camptomelic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Renal-hepatic-pancreatic dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Renal-hepatic-pancreatic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Smith-McCort dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Smith-McCort dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short-rib thoracic dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short-rib thoracic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Diastrophic dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Diastrophic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Multiple epiphyseal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Multiple epiphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

De la Chapelle dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the De la Chapelle dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Mandibuloacral dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Mandibuloacral dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Odonto-onycho-dermal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Odonto-onycho-dermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Ectodermal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Ectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Cranioectodermal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Cranioectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Skeletal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Skeletal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Metatropic dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Metatropic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Spondylometaphyseal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Spondylometaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Spondyloepimetaphyseal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Spondyloepimetaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Frontonasal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Frontonasal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Isolated focal cortical dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Isolated focal cortical dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Craniometaphyseal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Craniometaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Cortical dysplasia-focal epilepsy syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Cortical dysplasia-focal epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hidrotic ectodermal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hidrotic ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Trichorhinophalangeal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Trichorhinophalangeal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Lethal skeletal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Lethal skeletal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Ectodermal dysplasia 10a Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Ectodermal dysplasia 10a phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive hypohidrotic ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hypohidrotic Ectodermal Dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hypohidrotic Ectodermal Dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Wolcott-Rallison dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Wolcott-Rallison dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Progressive pseudorheumatoid dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Progressive pseudorheumatoid dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Boomerang dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Boomerang dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Acromesomelic dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Acromesomelic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Complex cortical dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Complex cortical dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Spondylo-megaepiphyseal-metaphyseal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Spondylo-megaepiphyseal-metaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Fibrous dysplasia of jaw Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Fibrous dysplasia of jaw phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Arteriohepatic dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Arteriohepatic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Septo-optic dysplasia sequence Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Septo-optic dysplasia sequence phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Langer mesomelic dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Langer mesomelic dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hypohidrotic X-linked ectodermal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hypohidrotic X-linked ectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

X-linked spondyloepimetaphyseal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the X-linked spondyloepimetaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Spondyloepiphyseal dysplasia tarda Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Spondyloepiphyseal dysplasia tarda phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Frontometaphyseal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Frontometaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Cardiac valvular dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Cardiac valvular dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Diaphyseal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Diaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Craniofacial-skeletal-dermatologic dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Craniofacial-skeletal-dermatologic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Osteofibrous dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Osteofibrous dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Metaphyseal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Metaphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Anauxetic dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Anauxetic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Osteoglophonic dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Osteoglophonic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Spondylometaphyseal dysplasia - Sutcliffe Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Spondylometaphyseal dysplasia - Sutcliffe phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Thanatophoric dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Thanatophoric dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Acromicric dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Acromicric dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Otospondylomegaepiphyseal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Otospondylomegaepiphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Epiphyseal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Epiphyseal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Namaqualand hip dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Namaqualand hip dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Spondyloepiphyseal dysplasia congenita Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Spondyloepiphyseal dysplasia congenita phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Spondyloperipheral dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Spondyloperipheral dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Kniest dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Kniest dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Acetabular dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Acetabular dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Bent bone dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Bent bone dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Fibromuscular dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Fibromuscular dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Anhidrotic ectodermal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Anhidrotic ectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.