Name

MYH8 Gene

myosin, heavy chain 8, skeletal muscle, perinatal

Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is predominantly expressed in fetal skeletal muscle. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in trismus-pseudocamptodactyly syndrome. [provided by RefSeq, Sep 2009]

OPHLC Gene

Omphalocele due to duplication of 1p31.3

PSHK2 Gene

Pseudohyperkalemia, familial, 2, due to red cell leak

SM2 Gene

Hepatic fibrosis susceptibility due to Schistosoma mansoni infection

GBA2 Gene

glucosidase, beta (bile acid) 2

This gene encodes a microsomal beta-glucosidase that catalyzes the hydrolysis of bile acid 3-O-glucosides as endogenous compounds. Studies to determine subcellular localization of this protein in the liver indicated that the enzyme was mainly enriched in the microsomal fraction where it appeared to be confined to the endoplasmic reticulum. This putative transmembrane protein is thought to play a role in carbohydrate transport and metabolism. [provided by RefSeq, Jul 2008]

GPBAR1 Gene

G protein-coupled bile acid receptor 1

This gene encodes a member of the G protein-coupled receptor (GPCR) superfamily. This enzyme functions as a cell surface receptor for bile acids. Treatment of cells expressing this GPCR with bile acids induces the production of intracellular cAMP, activation of a MAP kinase signaling pathway, and internalization of the receptor. The receptor is implicated in the suppression of macrophage functions and regulation of energy homeostasis by bile acids. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

SLC10A2 Gene

solute carrier family 10 (sodium/bile acid cotransporter), member 2

This gene encodes a sodium/bile acid cotransporter. This transporter is the primary mechanism for uptake of intestinal bile acids by apical cells in the distal ileum. Bile acids are the catabolic product of cholesterol metabolism, so this protein is also critical for cholesterol homeostasis. Mutations in this gene cause primary bile acid malabsorption (PBAM); muatations in this gene may also be associated with other diseases of the liver and intestines, such as familial hypertriglyceridemia (FHTG). [provided by RefSeq, Mar 2010]

SLC10A6 Gene

solute carrier family 10 (sodium/bile acid cotransporter), member 6

Predicted to enable bile acid:sodium symporter activity. Predicted to be involved in bile acid and bile salt transport. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

BAATP1 Gene

bile acid CoA: amino acid N-acyltransferase pseudogene 1

BAAT Gene

bile acid CoA:amino acid N-acyltransferase

The protein encoded by this gene is a liver enzyme that catalyzes the transfer of C24 bile acids from the acyl-CoA thioester to either glycine or taurine, the second step in the formation of bile acid-amino acid conjugates. The bile acid conjugates then act as a detergent in the gastrointestinal tract, which enhances lipid and fat-soluble vitamin absorption. Defects in this gene are a cause of familial hypercholanemia (FHCA). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

SLC10A1 Gene

solute carrier family 10 (sodium/bile acid cotransporter), member 1

The protein encoded by this gene belongs to the sodium/bile acid cotransporter family, which are integral membrane glycoproteins that participate in the enterohepatic circulation of bile acids. Two homologous transporters are involved in the reabsorption of bile acids; the ileal sodium/bile acid cotransporter with an apical cell localization that absorbs bile acids from the intestinal lumen, bile duct and kidney, and the liver-specific sodium/bile acid cotransporter, represented by this protein, that is found in the basolateral membranes of hepatocytes. Bile acids are the catabolic product of cholesterol metabolism, hence this protein is important for cholesterol homeostasis. [provided by RefSeq, Oct 2011]

Perinatal Jaundice Due To Inspissated Bile Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Perinatal Jaundice Due To Inspissated Bile Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

encephalitis; glucosephosphate dehydrogenase deficiency; jaundice, neonatal; neonatal jaundice Gene Set

From GAD Gene-Disease Associations

genes associated with the disease encephalitis; glucosephosphate dehydrogenase deficiency; jaundice, neonatal; neonatal jaundice in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

jaundice, neonatal; neonatal jaundice Gene Set

From GAD Gene-Disease Associations

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

glucosephosphate dehydrogenase deficiency; hemolysis; jaundice, neonatal; neonatal jaundice Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glucosephosphate dehydrogenase deficiency; hemolysis; jaundice, neonatal; neonatal jaundice in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Perinatal Jaundice Gene Set

From DisGeNET Gene-Disease Associations

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

bile acid and bile salt transport Gene Set

From GO Biological Process Annotations 2015

genes participating in the bile acid and bile salt transport biological process from the curated GO Biological Process Annotations 2015 dataset.

Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol Gene Set

From Reactome Pathways 2014

proteins participating in the Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol pathway from the Reactome Pathways dataset.

Synthesis of bile acids and bile salts Gene Set

From Reactome Pathways 2014

proteins participating in the Synthesis of bile acids and bile salts pathway from the Reactome Pathways dataset.

Synthesis of bile acids and bile salts via 24-hydroxycholesterol Gene Set

From Reactome Pathways 2014

proteins participating in the Synthesis of bile acids and bile salts via 24-hydroxycholesterol pathway from the Reactome Pathways dataset.

Synthesis of bile acids and bile salts via 27-hydroxycholesterol Gene Set

From Reactome Pathways 2014

proteins participating in the Synthesis of bile acids and bile salts via 27-hydroxycholesterol pathway from the Reactome Pathways dataset.

Bile acid and bile salt metabolism Gene Set

From Reactome Pathways 2014

proteins participating in the Bile acid and bile salt metabolism pathway from the Reactome Pathways dataset.

bile acid and bile salt transport Gene Set

From GO Biological Process Annotations 2023

genes participating in the bile acid and bile salt transport biological process from the curated GO Biological Process Annotations 2023 dataset.

Bile acid and bile salt metabolism Gene Set

From Reactome Pathways 2024

proteins participating in the Bile acid and bile salt metabolism pathway from the Reactome Pathways 2024 dataset.

Synthesis of bile acids and bile salts Gene Set

From Reactome Pathways 2024

proteins participating in the Synthesis of bile acids and bile salts pathway from the Reactome Pathways 2024 dataset.

Synthesis of bile acids and bile salts via 24-hydroxycholesterol Gene Set

From Reactome Pathways 2024

proteins participating in the Synthesis of bile acids and bile salts via 24-hydroxycholesterol pathway from the Reactome Pathways 2024 dataset.

Synthesis of bile acids and bile salts via 27-hydroxycholesterol Gene Set

From Reactome Pathways 2024

proteins participating in the Synthesis of bile acids and bile salts via 27-hydroxycholesterol pathway from the Reactome Pathways 2024 dataset.

Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol Gene Set

From Reactome Pathways 2024

proteins participating in the Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol pathway from the Reactome Pathways 2024 dataset.

bile acid and bile salt transport Gene Set

From GO Biological Process Annotations 2025

genes participating in the bile acid and bile salt transport biological process from the curated GO Biological Process Annotations 2025 dataset.

THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR;THPH9 HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSUE PLASMINOGEN Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR;THPH9 HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSUE PLASMINOGEN from the curated CTD Gene-Disease Associations dataset.

Osteogenesis imperfecta, recessive perinatal lethal Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Osteogenesis imperfecta, recessive perinatal lethal phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gaucher disease, perinatal lethal Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gaucher disease, perinatal lethal phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Jaundice Gene Set

From CTD Gene-Disease Associations

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

Jaundice, Obstructive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Jaundice, Obstructive from the curated CTD Gene-Disease Associations dataset.

Jaundice, Neonatal Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Jaundice, Neonatal from the curated CTD Gene-Disease Associations dataset.

Jaundice, Chronic Idiopathic Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Jaundice, Chronic Idiopathic from the curated CTD Gene-Disease Associations dataset.

Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema from the curated CTD Gene-Disease Associations dataset.

Gaucher Disease, Perinatal Lethal Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Gaucher Disease, Perinatal Lethal from the curated CTD Gene-Disease Associations dataset.

perinatal necrotizing enterocolitis Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

obstructive jaundice Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

neonatal jaundice Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

perinatal mortality Gene Set

From GAD Gene-Disease Associations

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

hepatitis c; hepatitis c, chronic; icterus; jaundice Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hepatitis c; hepatitis c, chronic; icterus; jaundice in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyperbilirubinemia, neonatal; jaundice Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperbilirubinemia, neonatal; jaundice in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hepatitis c; icterus; jaundice Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hepatitis c; icterus; jaundice in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

jaundice, neonatal Gene Set

From GAD Gene-Disease Associations

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

scleroderma; jaundice Gene Set

From GAD Gene-Disease Associations

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

jaundice Gene Set

From GAD Gene-Disease Associations

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

increased perinatal immunodeficiency virus type 1 transmission Gene Set

From GAD Gene-Disease Associations

genes associated with the disease increased perinatal immunodeficiency virus type 1 transmission in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

jaundice Gene Set

From GeneRIF Biological Term Annotations

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

perinatal Gene Set

From GeneRIF Biological Term Annotations

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

jaundice Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the jaundice phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

intermittent jaundice Gene Set

From HPO Gene-Disease Associations

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

intrahepatic cholestasis with episodic jaundice Gene Set

From HPO Gene-Disease Associations

genes associated with the intrahepatic cholestasis with episodic jaundice phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

jaundice Gene Set

From HPO Gene-Disease Associations

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

prolonged neonatal jaundice Gene Set

From HPO Gene-Disease Associations

genes associated with the prolonged neonatal jaundice phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Jaundice Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Jaundice, Neonatal Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

complete perinatal lethality Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the complete perinatal lethality phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

jaundice Gene Set

From MPO Gene-Phenotype Associations

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

perinatal lethality Gene Set

From MPO Gene-Phenotype Associations

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

partial perinatal lethality Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the partial perinatal lethality phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema Gene Set

From OMIM Gene-Disease Associations

genes associated with the dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema phenotype from the curated OMIM Gene-Disease Associations dataset.

gaucher disease, perinatal lethal Gene Set

From OMIM Gene-Disease Associations

genes associated with the gaucher disease, perinatal lethal phenotype from the curated OMIM Gene-Disease Associations dataset.

Jaundice Gene Set

From DisGeNET Gene-Disease Associations

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

Perinatal Hiv Infection Gene Set

From DisGeNET Gene-Disease Associations

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

Perinatal Arterial Ischemic Stroke Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Perinatal Arterial Ischemic Stroke in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Perinatal Brain Damage Gene Set

From DisGeNET Gene-Disease Associations

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

Intrahepatic Cholestasis With Episodic Jaundice Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Intrahepatic Cholestasis With Episodic Jaundice in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Perinatal Depression In Mother Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Perinatal Depression In Mother in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Perinatal Anoxic-Ischemic Brain Injury Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Perinatal Anoxic-Ischemic Brain Injury in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Perinatal Stroke Gene Set

From DisGeNET Gene-Disease Associations

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

Gaucher Disease, Perinatal Lethal Gene Set

From DisGeNET Gene-Disease Associations

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

Perinatal Respiratory Failure Gene Set

From DisGeNET Gene-Disease Associations

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

Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, And Perinatal Edema Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, And Perinatal Edema in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Perinatal Respiratory Distress Gene Set

From DisGeNET Gene-Disease Associations

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

Anemia, Perinatal Hemolytic, Fatal Or Near-Fatal Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Anemia, Perinatal Hemolytic, Fatal Or Near-Fatal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Breastfeeding Jaundice Gene Set

From DisGeNET Gene-Disease Associations

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

Prolonged Neonatal Jaundice Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Prolonged Neonatal Jaundice in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Intermittent Jaundice Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Intermittent Jaundice in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Neonatal Jaundice Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Neonatal Jaundice in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Perinatal Subarachnoid Hemorrhage Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Perinatal Subarachnoid Hemorrhage in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Perinatal Pulmonary Hemorrhage Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Perinatal Pulmonary Hemorrhage in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Fetal Hydrops (In Perinatal Or Congenital Neuromuscular Forms) Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Fetal Hydrops (In Perinatal Or Congenital Neuromuscular Forms) in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Perinatal Death Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Perinatal Death in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Newborn Physiological Jaundice Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Newborn Physiological Jaundice in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Hepatocellular Jaundice Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Hepatocellular Jaundice in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

perinatal lethality, complete penetrance Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the perinatal lethality, complete penetrance phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

perinatal lethality, incomplete penetrance Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the perinatal lethality, incomplete penetrance phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

perinatal lethality Gene Set

From MGI Mouse Phenotype Associations 2023

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

jaundice Gene Set

From MGI Mouse Phenotype Associations 2023

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

Perinatal necrotizing enterocolitis Gene Set

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

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

Obstructive jaundice Gene Set

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

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

Neonatal jaundice Gene Set

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

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

Gaucher's disease perinatal lethal Gene Set

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

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

Perinatal intestinal perforation Gene Set

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

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

Gaucher disease perinatal lethal Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Gaucher disease perinatal lethal phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Perinatal lethal hypophosphatasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Perinatal lethal hypophosphatasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Jaundice Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

alagille syndrome; paucity of interlobular bile ducts (pilbd); pulmonary valve stenosis; tetralogy of fallot Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alagille syndrome; paucity of interlobular bile ducts (pilbd); pulmonary valve stenosis; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Ehlers-Danlos-like syndrome due to tenascin-X deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ehlers-Danlos-like syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leigh syndrome due to mitochondrial complex I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leigh syndrome due to mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leigh syndrome due to mitochondrial complex II deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leigh syndrome due to mitochondrial complex II deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

leigh syndrome due to mitochondrial complex i deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the leigh syndrome due to mitochondrial complex i deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

leigh syndrome, due to cox deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the leigh syndrome, due to cox deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

bare lymphocyte syndrome, type i, due to tap2 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the bare lymphocyte syndrome, type i, due to tap2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

leigh syndrome due to mitochondrial cox4 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the leigh syndrome due to mitochondrial cox4 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

leigh syndrome due to cytochrome c oxidase deficiency Gene Set

From OMIM Gene-Disease Associations

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

leigh syndrome due to mitochondrial complex 1 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the leigh syndrome due to mitochondrial complex 1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

Differentiation Syndrome Due To And Following Chemotherapy Co-Occurrent With Acute Promyelocytic Leukemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Differentiation Syndrome Due To And Following Chemotherapy Co-Occurrent With Acute Promyelocytic Leukemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Leigh Syndrome Due To Mitochondrial Complex I Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Primary Immunodeficiency Syndrome Due To P14 Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Primary Immunodeficiency Syndrome Due To P14 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hypercoagulability Syndrome Due To Glycosylphosphatidylinositol Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hypercoagulability Syndrome Due To Glycosylphosphatidylinositol Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Rubinstein-Taybi syndrome due to EP300 haploinsufficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Alagille syndrome due to a JAG1 point mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Alagille syndrome due to a JAG1 point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Ehlers-Danlos syndrome due to tenascin-X deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Ehlers-Danlos syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Rubinstein-Taybi syndrome due to CREBBP mutations Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Rubinstein-Taybi syndrome due to CREBBP mutations phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Leigh syndrome due to mitochondrial complex IV deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Leigh syndrome due to mitochondrial complex IV deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Alagille syndrome due to a NOTCH2 point mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Alagille syndrome due to a NOTCH2 point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

DeSanto-Shinawi syndrome due to WAC point mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the DeSanto-Shinawi syndrome due to WAC point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Beckwith-Wiedemann syndrome due to CDKN1C mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Beckwith-Wiedemann syndrome due to CDKN1C mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

SIN3A-related intellectual disability syndrome due to a point mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the SIN3A-related intellectual disability syndrome due to a point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Kleefstra syndrome due to a point mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Kleefstra syndrome due to a point mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hao-Fountain syndrome due to USP7 mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hao-Fountain syndrome due to USP7 mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Primary immunodeficiency syndrome due to p14 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Primary immunodeficiency syndrome due to p14 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Bile acid malabsorption, primary Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bile acid malabsorption, primary phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bile acid synthesis defect, congenital, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bile acid synthesis defect, congenital, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bile acid synthesis defect, congenital, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bile acid synthesis defect, congenital, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bile Acids and Salts Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Bile Acids and Salts from the curated CTD Gene-Chemical Interactions dataset.

Bile Duct Neoplasms Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Bile Duct Neoplasms from the curated CTD Gene-Disease Associations dataset.

Bile Duct Diseases Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Bile Duct Diseases from the curated CTD Gene-Disease Associations dataset.

Bile acid synthesis defect, congenital, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Bile acid synthesis defect, congenital, 2 from the curated CTD Gene-Disease Associations dataset.

Bile acid synthesis defect, congenital, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Bile acid synthesis defect, congenital, 4 from the curated CTD Gene-Disease Associations dataset.

Bile Acid Malabsorption, Primary Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Bile Acid Malabsorption, Primary from the curated CTD Gene-Disease Associations dataset.

Bile acid synthesis defect, congenital, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Bile acid synthesis defect, congenital, 1 from the curated CTD Gene-Disease Associations dataset.

Adenoma, Bile Duct Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Adenoma, Bile Duct from the curated CTD Gene-Disease Associations dataset.

bile duct disease Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

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

bile duct disease Gene Set

From DISEASES Experimental Gene-Disease Association Evidence Scores

genes associated with the disease bile duct disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

bile duct mucoepidermoid carcinoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

bile duct adenoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

bile duct adenocarcinoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

bile reflux Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

common bile duct disease Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

bile duct sarcoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

bile duct carcinoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

extrahepatic bile duct carcinoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

extrahepatic bile duct adenocarcinoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

bile duct disease Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

bile duct cystadenocarcinoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

congenital bile acid synthesis defect Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease congenital bile acid synthesis defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

bile duct cancer Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

bile lipid composition and cholesterol gallstone Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bile lipid composition and cholesterol gallstone in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adenoma; carcinoma; common bile duct neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adenoma; carcinoma; common bile duct neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bile duct neoplasms; gallbladder neoplasms; gallstones Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bile duct neoplasms; gallbladder neoplasms; gallstones in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cholesterol, ldl; bile acid synthesis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cholesterol, ldl; bile acid synthesis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bile duct neoplasms; cholangiocarcinoma; cholangitis, sclerosing Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bile duct neoplasms; cholangiocarcinoma; cholangitis, sclerosing in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bile duct neoplasms; biliary calculi; gallstones Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bile duct neoplasms; biliary calculi; gallstones in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bile duct neoplasms; cholangiocarcinoma; cholangitis, sclerosing; dna damage; Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bile duct neoplasms; cholangiocarcinoma; cholangitis, sclerosing; dna damage; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adenocarcinoma; carcinoma, pancreatic ductal; common bile duct neoplasms; pancreatic neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adenocarcinoma; carcinoma, pancreatic ductal; common bile duct neoplasms; pancreatic neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bile duct neoplasms; cholangiocarcinoma; Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bile duct neoplasms; cholangiocarcinoma; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bile Gene Set

From GeneRIF Biological Term Annotations

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

response to bile acid Gene Set

From GO Biological Process Annotations 2015

genes participating in the response to bile acid biological process from the curated GO Biological Process Annotations 2015 dataset.

common bile duct development Gene Set

From GO Biological Process Annotations 2015

genes participating in the common bile duct development biological process from the curated GO Biological Process Annotations 2015 dataset.

bile acid biosynthetic process Gene Set

From GO Biological Process Annotations 2015

genes participating in the bile acid biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.

cellular response to bile acid Gene Set

From GO Biological Process Annotations 2015

genes participating in the cellular response to bile acid biological process from the curated GO Biological Process Annotations 2015 dataset.

intrahepatic bile duct development Gene Set

From GO Biological Process Annotations 2015

genes participating in the intrahepatic bile duct development biological process from the curated GO Biological Process Annotations 2015 dataset.

canalicular bile acid transport Gene Set

From GO Biological Process Annotations 2015

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

bile acid catabolic process Gene Set

From GO Biological Process Annotations 2015

genes participating in the bile acid catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of bile acid biosynthetic process Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of bile acid biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.

bile acid metabolic process Gene Set

From GO Biological Process Annotations 2015

genes participating in the bile acid metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset.

negative regulation of bile acid biosynthetic process Gene Set

From GO Biological Process Annotations 2015

genes participating in the negative regulation of bile acid biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.

bile acid signaling pathway Gene Set

From GO Biological Process Annotations 2015

genes participating in the bile acid signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset.

cell surface bile acid receptor signaling pathway Gene Set

From GO Biological Process Annotations 2015

genes participating in the cell surface bile acid receptor signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset.

intracellular bile acid receptor signaling pathway Gene Set

From GO Biological Process Annotations 2015

genes participating in the intracellular bile acid receptor signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of bile acid biosynthetic process Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of bile acid biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset.

bile acid secretion Gene Set

From GO Biological Process Annotations 2015

genes participating in the bile acid secretion biological process from the curated GO Biological Process Annotations 2015 dataset.

bile acid conjugation Gene Set

From GO Biological Process Annotations 2015

genes participating in the bile acid conjugation biological process from the curated GO Biological Process Annotations 2015 dataset.

bile acid-exporting atpase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the bile acid-exporting atpase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

bile acid transmembrane transporter activity Gene Set

From GO Molecular Function Annotations 2015

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

bile acid receptor activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the bile acid receptor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

bile acid binding Gene Set

From GO Molecular Function Annotations 2015

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

bile-salt sulfotransferase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the bile-salt sulfotransferase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

bile acid:sodium symporter activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the bile acid:sodium symporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

canalicular bile acid transmembrane transporter activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the canalicular bile acid transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

g-protein coupled bile acid receptor activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the g-protein coupled bile acid receptor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

bile duct disease Gene Set

From GWASdb SNP-Disease Associations

genes associated with the disease bile duct disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

abnormality of the intrahepatic bile duct Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the intrahepatic bile duct phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

increased serum bile acid concentration during pregnancy Gene Set

From HPO Gene-Disease Associations

genes associated with the increased serum bile acid concentration during pregnancy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

reduced number of intrahepatic bile ducts Gene Set

From HPO Gene-Disease Associations

genes associated with the reduced number of intrahepatic bile ducts phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

increased serum bile acid concentration Gene Set

From HPO Gene-Disease Associations

genes associated with the increased serum bile acid concentration phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

bile duct proliferation Gene Set

From HPO Gene-Disease Associations

genes associated with the bile duct proliferation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Bile Duct Neoplasms Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Bile Duct Neoplasms phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Common Bile Duct Neoplasms Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Common Bile Duct Neoplasms phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

bile acid biosynthesis, neutral pathway Gene Set

From HumanCyc Pathways

proteins participating in the bile acid biosynthesis, neutral pathway pathway from the HumanCyc Pathways dataset.

Putative sodium bile acid cotransporter Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Putative sodium bile acid cotransporter protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Bile salt export pump Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Bile salt export pump protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Bile acid:sodium symporter Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Bile acid:sodium symporter protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Bile acid:sodium symporter/arsenical resistance protein Acr3 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Bile acid:sodium symporter/arsenical resistance protein Acr3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

bile acid biosynthesis Gene Set

From KEGG Pathways

proteins participating in the bile acid biosynthesis pathway from the KEGG Pathways dataset.

abnormal extrahepatic bile duct morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal extrahepatic bile duct morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal bile salt homeostasis Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal bile salt homeostasis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal bile duct morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal bile duct morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal bile secretion Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal bile secretion phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased bile salt level Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased bile salt level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

dilated bile duct Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the dilated bile duct phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal bile composition Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal bile composition phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal bile duct development Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal bile duct development phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

bile duct hyperplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the bile duct hyperplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal bile duct physiology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal bile duct physiology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

bile duct proliferation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the bile duct proliferation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

bile duct inflammation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the bile duct inflammation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal common bile duct morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal common bile duct morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal bile color Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal bile color phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal bile canaliculus morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal bile canaliculus morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal intrahepatic bile duct morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal intrahepatic bile duct morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal bile salt level Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal bile salt level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

bile acid malabsorption, primary Gene Set

From OMIM Gene-Disease Associations

genes associated with the bile acid malabsorption, primary phenotype from the curated OMIM Gene-Disease Associations dataset.

bile acid synthesis defect, congenital, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the bile acid synthesis defect, congenital, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

bile acid synthesis defect, congenital, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the bile acid synthesis defect, congenital, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

bile acid synthesis defect, congenital, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the bile acid synthesis defect, congenital, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

bile acid synthesis defect, congenital, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the bile acid synthesis defect, congenital, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3) Gene Set

From Reactome Pathways 2014

proteins participating in the Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3) pathway from the Reactome Pathways dataset.

Recycling of bile acids and salts Gene Set

From Reactome Pathways 2014

proteins participating in the Recycling of bile acids and salts pathway from the Reactome Pathways dataset.

Bile salt and organic anion SLC transporters Gene Set

From Reactome Pathways 2014

proteins participating in the Bile salt and organic anion SLC transporters pathway from the Reactome Pathways dataset.

Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds Gene Set

From Reactome Pathways 2014

proteins participating in the Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds pathway from the Reactome Pathways dataset.

bile Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue bile from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.

bile ductule Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

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

bile canaliculus Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

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

bile duct cell line Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue bile duct cell line in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

bile duct epithelium Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

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

bile Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

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

bile duct Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

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

Drug Induction of Bile Acid Pathway(Homo sapiens) Gene Set

From WikiPathways Pathways 2014

proteins participating in the Drug Induction of Bile Acid Pathway(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset.

Congenital Atresia Of Extrahepatic Bile Duct Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Atresia Of Extrahepatic Bile Duct in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Bile Duct Proliferation Gene Set

From DisGeNET Gene-Disease Associations

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

Fibrosis Of Bile Duct Gene Set

From DisGeNET Gene-Disease Associations

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

Advanced Bile Duct Carcinoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Advanced Bile Duct Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Bile Duct Carcinoma Gene Set

From DisGeNET Gene-Disease Associations

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

Bile Acid Synthesis Defect Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Bile Acid Synthesis Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Carcinoma Of Extrahepatic Bile Duct Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Carcinoma Of Extrahepatic Bile Duct in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Bile Duct Adenoma Gene Set

From DisGeNET Gene-Disease Associations

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

Bile Duct Cystadenocarcinoma Gene Set

From DisGeNET Gene-Disease Associations

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

Liver And Intrahepatic Bile Duct Epithelial Neoplasm Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Liver And Intrahepatic Bile Duct Epithelial Neoplasm in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Liver And Intrahepatic Bile Duct Neoplasm Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Liver And Intrahepatic Bile Duct Neoplasm in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Malignant Tumor Of Extrahepatic Bile Duct Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Malignant Tumor Of Extrahepatic Bile Duct in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Bile Acid Diarrhea Gene Set

From DisGeNET Gene-Disease Associations

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

Bile Duct Cancer Resectable Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Bile Duct Cancer Resectable in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Stricture Of Bile Duct Gene Set

From DisGeNET Gene-Disease Associations

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

Metastatic Bile Duct Carcinoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Metastatic Bile Duct Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Bile Reflux Gene Set

From DisGeNET Gene-Disease Associations

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

Bile Acid Malabsorption Gene Set

From DisGeNET Gene-Disease Associations

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

Distal Bile Duct Cancer Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Distal Bile Duct Cancer in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Synthetic Defect Of Bile Acids Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Synthetic Defect Of Bile Acids in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Bile Acid Synthesis Defect Type 3 Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Bile Acid Synthesis Defect Type 3 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Bile Duct Hyperplasia Gene Set

From DisGeNET Gene-Disease Associations

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

Congenital Hypoplasia Of Bile Duct Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Hypoplasia Of Bile Duct in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Abnormality Of The Intrahepatic Bile Duct Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Abnormality Of The Intrahepatic Bile Duct in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Distal Bile Duct Carcinoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Distal Bile Duct Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Bile Duct Adenocarcinoma Gene Set

From DisGeNET Gene-Disease Associations

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

Bile Duct Stenosis Gene Set

From DisGeNET Gene-Disease Associations

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

Bile Acid Malabsorption, Primary Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Bile Acid Malabsorption, Primary in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Bile Acid Coa Ligase Deficiency And Defective Amidation Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Bile Acid Coa Ligase Deficiency And Defective Amidation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Increased Serum Bile Acid Concentration During Pregnancy Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Increased Serum Bile Acid Concentration During Pregnancy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Common Bile Duct Calculi Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Common Bile Duct Calculi in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Increased Serum Bile Acid Concentration Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Increased Serum Bile Acid Concentration in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Reduced Number Of Intrahepatic Bile Ducts Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Reduced Number Of Intrahepatic Bile Ducts in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

bile acid biosynthetic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the bile acid biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.

bile acid secretion Gene Set

From GO Biological Process Annotations 2023

genes participating in the bile acid secretion biological process from the curated GO Biological Process Annotations 2023 dataset.

bile acid metabolic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the bile acid metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.

canalicular bile acid transport Gene Set

From GO Biological Process Annotations 2023

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

positive regulation of bile acid secretion Gene Set

From GO Biological Process Annotations 2023

genes participating in the positive regulation of bile acid secretion biological process from the curated GO Biological Process Annotations 2023 dataset.

regulation of bile acid metabolic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the regulation of bile acid metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.

negative regulation of bile acid biosynthetic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the negative regulation of bile acid biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.

response to bile acid Gene Set

From GO Biological Process Annotations 2023

genes participating in the response to bile acid biological process from the curated GO Biological Process Annotations 2023 dataset.

positive regulation of bile acid biosynthetic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the positive regulation of bile acid biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.

cellular response to bile acid Gene Set

From GO Biological Process Annotations 2023

genes participating in the cellular response to bile acid biological process from the curated GO Biological Process Annotations 2023 dataset.

regulation of bile acid biosynthetic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the regulation of bile acid biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset.

regulation of bile acid secretion Gene Set

From GO Biological Process Annotations 2023

genes participating in the regulation of bile acid secretion biological process from the curated GO Biological Process Annotations 2023 dataset.

bile acid conjugation Gene Set

From GO Biological Process Annotations 2023

genes participating in the bile acid conjugation biological process from the curated GO Biological Process Annotations 2023 dataset.

cell surface bile acid receptor signaling pathway Gene Set

From GO Biological Process Annotations 2023

genes participating in the cell surface bile acid receptor signaling pathway biological process from the curated GO Biological Process Annotations 2023 dataset.

intracellular bile acid receptor signaling pathway Gene Set

From GO Biological Process Annotations 2023

genes participating in the intracellular bile acid receptor signaling pathway biological process from the curated GO Biological Process Annotations 2023 dataset.

negative regulation of bile acid metabolic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the negative regulation of bile acid metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.

positive regulation of bile acid metabolic process Gene Set

From GO Biological Process Annotations 2023

genes participating in the positive regulation of bile acid metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset.

ABC-type bile acid transporter activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the ABC-type bile acid transporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

canalicular bile acid transmembrane transporter activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the canalicular bile acid transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

bile acid binding Gene Set

From GO Molecular Function Annotations 2023

genes performing the bile acid binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.

bile-salt sulfotransferase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the bile-salt sulfotransferase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

bile acid:sodium symporter activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the bile acid:sodium symporter activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

G protein-coupled bile acid receptor activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the G protein-coupled bile acid receptor activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

abnormal bile duct development Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal bile duct development phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal bile salt homeostasis Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal bile salt homeostasis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal bile salt level Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal bile salt level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

increased bile salt level Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased bile salt level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal bile canaliculus morphology Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal bile canaliculus morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal bile duct morphology Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal bile duct morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

bile duct epithelium hyperplasia Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the bile duct epithelium hyperplasia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal bile composition Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal bile composition phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

bile duct inflammation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the bile duct inflammation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal bile secretion Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal bile secretion phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

dilated bile duct Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the dilated bile duct phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

bile duct proliferation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the bile duct proliferation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

bile duct hyperplasia Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the bile duct hyperplasia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal bile color Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal bile color phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal intrahepatic bile duct morphology Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal intrahepatic bile duct morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased bile salt level Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased bile salt level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal extrahepatic bile duct morphology Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal extrahepatic bile duct morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal common bile duct morphology Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal common bile duct morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal bile duct epithelium morphology Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal bile duct epithelium morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal interlobular bile duct morphology Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal interlobular bile duct morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

Drug induction of bile acid pathway Gene Set

From WikiPathways Pathways 2024

proteins participating in the Drug induction of bile acid pathway pathway from the WikiPathways Pathways 2024 dataset.

Bile acid synthesis and enterohepatic circulation Gene Set

From WikiPathways Pathways 2024

proteins participating in the Bile acid synthesis and enterohepatic circulation pathway from the WikiPathways Pathways 2024 dataset.

Disorders of bile acid synthesis and biliary transport Gene Set

From WikiPathways Pathways 2024

proteins participating in the Disorders of bile acid synthesis and biliary transport pathway from the WikiPathways Pathways 2024 dataset.

Enterohepatic circulation of bile acids Gene Set

From WikiPathways Pathways 2024

proteins participating in the Enterohepatic circulation of bile acids pathway from the WikiPathways Pathways 2024 dataset.

NR1H2 & NR1H3 regulate gene expression to control bile acid homeostasis Gene Set

From Reactome Pathways 2024

proteins participating in the NR1H2 & NR1H3 regulate gene expression to control bile acid homeostasis pathway from the Reactome Pathways 2024 dataset.

Recycling of bile acids and salts Gene Set

From Reactome Pathways 2024

proteins participating in the Recycling of bile acids and salts pathway from the Reactome Pathways 2024 dataset.

Transport of bile salts and organic acids, metal ions and amine compounds Gene Set

From Reactome Pathways 2024

proteins participating in the Transport of bile salts and organic acids, metal ions and amine compounds pathway from the Reactome Pathways 2024 dataset.

bile acid metabolic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the bile acid metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.

bile acid biosynthetic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the bile acid biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset.

bile acid secretion Gene Set

From GO Biological Process Annotations 2025

genes participating in the bile acid secretion biological process from the curated GO Biological Process Annotations 2025 dataset.

canalicular bile acid transport Gene Set

From GO Biological Process Annotations 2025

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

positive regulation of bile acid secretion Gene Set

From GO Biological Process Annotations 2025

genes participating in the positive regulation of bile acid secretion biological process from the curated GO Biological Process Annotations 2025 dataset.

regulation of bile acid metabolic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the regulation of bile acid metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.

negative regulation of bile acid biosynthetic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the negative regulation of bile acid biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset.

nuclear receptor-mediated bile acid signaling pathway Gene Set

From GO Biological Process Annotations 2025

genes participating in the nuclear receptor-mediated bile acid signaling pathway biological process from the curated GO Biological Process Annotations 2025 dataset.

response to bile acid Gene Set

From GO Biological Process Annotations 2025

genes participating in the response to bile acid biological process from the curated GO Biological Process Annotations 2025 dataset.

positive regulation of bile acid biosynthetic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the positive regulation of bile acid biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset.

cellular response to bile acid Gene Set

From GO Biological Process Annotations 2025

genes participating in the cellular response to bile acid biological process from the curated GO Biological Process Annotations 2025 dataset.

regulation of bile acid biosynthetic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the regulation of bile acid biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset.

regulation of bile acid secretion Gene Set

From GO Biological Process Annotations 2025

genes participating in the regulation of bile acid secretion biological process from the curated GO Biological Process Annotations 2025 dataset.

bile acid conjugation Gene Set

From GO Biological Process Annotations 2025

genes participating in the bile acid conjugation biological process from the curated GO Biological Process Annotations 2025 dataset.

adenylate cyclase-activating G protein-coupled bile acid receptor signaling pathway Gene Set

From GO Biological Process Annotations 2025

genes participating in the adenylate cyclase-activating G protein-coupled bile acid receptor signaling pathway biological process from the curated GO Biological Process Annotations 2025 dataset.

negative regulation of bile acid metabolic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the negative regulation of bile acid metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.

positive regulation of bile acid metabolic process Gene Set

From GO Biological Process Annotations 2025

genes participating in the positive regulation of bile acid metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset.

ABC-type bile acid transporter activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the ABC-type bile acid transporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

bile acid transmembrane transporter activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the bile acid transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

canalicular bile acid transmembrane transporter activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the canalicular bile acid transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

bile acid binding Gene Set

From GO Molecular Function Annotations 2025

genes performing the bile acid binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.

bile acid nuclear receptor activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the bile acid nuclear receptor activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

bile-salt sulfotransferase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the bile-salt sulfotransferase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

bile acid:sodium symporter activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the bile acid:sodium symporter activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

G protein-coupled bile acid receptor activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the G protein-coupled bile acid receptor activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

bile acid-gated sodium channel activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the bile acid-gated sodium channel activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

Bile duct disease Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Bile duct cancer Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Bile duct adenocarcinoma Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Bile duct carcinoma Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

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

Congenital bile acid synthesis defect Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Congenital bile acid synthesis defect from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Congenital bile acid synthesis defect 2 Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Congenital bile acid synthesis defect 2 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Bile duct disease Gene Set

From DISEASES Experimental Gene-Disease Association Evidence Scores 2025

genes associated with the disease Bile duct disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.

Bile duct disease Gene Set

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

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

Bile duct cancer Gene Set

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

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

Bile duct carcinoma Gene Set

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

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

Bile duct adenocarcinoma Gene Set

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

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

Common bile duct disease Gene Set

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

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

Bile reflux Gene Set

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

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

Congenital bile acid synthesis defect Gene Set

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

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

Congenital bile acid synthesis defect 5 Gene Set

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

genes co-occuring with the disease Congenital bile acid synthesis defect 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Bile duct cystadenocarcinoma Gene Set

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

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

Extrahepatic bile duct carcinoma Gene Set

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

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

Bile duct adenoma Gene Set

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

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

Bile duct sarcoma Gene Set

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

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

Squamous cell bile duct carcinoma Gene Set

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

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

Intrahepatic bile duct adenoma Gene Set

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

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

Bile duct mucinous adenocarcinoma Gene Set

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

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

Bile duct mucoepidermoid carcinoma Gene Set

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

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

Bile duct signet ring cell carcinoma Gene Set

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

genes co-occuring with the disease Bile duct signet ring cell carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Common bile duct neoplasm Gene Set

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

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

Extrahepatic bile duct adenocarcinoma Gene Set

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

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

Congenital bile acid synthesis defect 2 Gene Set

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

genes co-occuring with the disease Congenital bile acid synthesis defect 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Congenital bile acid synthesis defect 3 Gene Set

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

genes co-occuring with the disease Congenital bile acid synthesis defect 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Intrahepatic bile duct cystadenoma Gene Set

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

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

Bile duct cystadenoma Gene Set

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

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

Extrahepatic bile duct adenoma Gene Set

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

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

Congenital bile acid synthesis defect 1 Gene Set

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

genes co-occuring with the disease Congenital bile acid synthesis defect 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Bile duct rhabdomyosarcoma Gene Set

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

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

Perforation of bile duct Gene Set

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

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

Bile duct carcinoma in situ Gene Set

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

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

Bile Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores 2025

proteins highly expressed in the tissue Bile from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset.

Bile duct Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

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

Bile canaliculus Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

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

Bile duct epithelium Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

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

Bile ductule Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

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

Bile Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

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

Bile duct cell line Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

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

Congenital bile acid synthesis defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital bile acid synthesis defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Bile duct cancer Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Bile duct cancer phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Abnormal intrahepatic bile duct morphology Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Abnormal intrahepatic bile duct morphology phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Bile acid conjugation defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Bile acid conjugation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Bile acid malabsorption Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Bile acid malabsorption phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Primary bile acid biosynthesis Gene Set

From KEGG Pathways 2026

proteins participating in the Primary bile acid biosynthesis pathway from the KEGG Pathways 2026 dataset.

Bile secretion Gene Set

From KEGG Pathways 2026

proteins participating in the Bile secretion pathway from the KEGG Pathways 2026 dataset.

Lynch syndrome:Lynch syndrome:Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome:Lynch syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

fatigue syndrome, chronic; fatigue syndrome; postviral; persian gulf syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fatigue syndrome, chronic; fatigue syndrome; postviral; persian gulf syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

nocturnal myoclonus syndrome; restless legs syndrome; tourette syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease nocturnal myoclonus syndrome; restless legs syndrome; tourette syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

meconium aspiration syndrome; resp distress syndrome neonatal; respiratory distress syndrome, newborn; sleep disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease meconium aspiration syndrome; resp distress syndrome neonatal; respiratory distress syndrome, newborn; sleep disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome Gene Set

From GAD Gene-Disease Associations

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

insulin resistance; metabolic syndrome x; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease insulin resistance; metabolic syndrome x; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Carbonic anhydrase va deficiency, hyperammonemia due to Gene Set

From ClinVar Gene-Phenotype Associations

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

SCID due to ADA deficiency, delayed onset Gene Set

From ClinVar Gene-Phenotype Associations

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

Thrombophilia due to protein S deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Severe combined immunodeficiency due to ADA deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

HNSHA due to aldolase A deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

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

Gaucher disease, atypical, due to saposin C deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gaucher disease, atypical, due to saposin C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Megaloblastic anemia due to inborn errors of metabolism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Megaloblastic anemia due to inborn errors of metabolism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hemolytic anemia due to hexokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hemolytic anemia due to hexokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homocysteinemia due to MTHFR deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Homocysteinemia due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immunodeficiency due to ficolin 3 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immunodeficiency due to ficolin 3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia due to activated protein C resistance Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia due to activated protein C resistance phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypermethioninemia due to adenosine kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypermethioninemia due to adenosine kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pseudohermaphroditism, female, with hypokalemia, due to glucocorticoid resistance Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pseudohermaphroditism, female, with hypokalemia, due to glucocorticoid resistance phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia due to thrombomodulin defect Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia due to thrombomodulin defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Muscular dystrophy, congenital, due to ITGA7 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Muscular dystrophy, congenital, due to ITGA7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immunodeficiency due to defect in cd3-zeta Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immunodeficiency due to defect in cd3-zeta phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homocystinuria due to MTHFR deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Homocystinuria due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy due to partial LAMA2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy due to partial LAMA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Megaloblastic anemia due to dihydrofolate reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Megaloblastic anemia due to dihydrofolate reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Obesity, severe, due to leptin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Obesity, severe, due to leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adenylate kinase deficiency, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

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

Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immune dysfunction with T-cell inactivation due to calcium entry defect 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immune dysfunction with T-cell inactivation due to calcium entry defect 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immune dysfunction with T-cell inactivation due to calcium entry defect 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immune dysfunction with T-cell inactivation due to calcium entry defect 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital adrenal hyperplasia due to 21 hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Thrombophilia, X-Linked, Due To Factor Ix Defect Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thrombophilia, X-Linked, Due To Factor Ix Defect from the curated CTD Gene-Disease Associations dataset.

HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

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

From CTD Gene-Disease Associations

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

Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type from the curated CTD Gene-Disease Associations dataset.

Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.

Congenital thrombotic disease, due to Protein C deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital thrombotic disease, due to Protein C deficiency from the curated CTD Gene-Disease Associations dataset.

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO from the curated CTD Gene-Disease Associations dataset.

Adenylate Kinase Deficiency, Hemolytic Anemia Due To Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Adenylate Kinase Deficiency, Hemolytic Anemia Due To from the curated CTD Gene-Disease Associations dataset.

Neurodegeneration Due To Cerebral Folate Transport Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neurodegeneration Due To Cerebral Folate Transport Deficiency from the curated CTD Gene-Disease Associations dataset.

THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency from the curated CTD Gene-Disease Associations dataset.

Severe combined immunodeficiency due to adenosine deaminase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe combined immunodeficiency due to adenosine deaminase deficiency from the curated CTD Gene-Disease Associations dataset.

Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency from the curated CTD Gene-Disease Associations dataset.

Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.

METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT from the curated CTD Gene-Disease Associations dataset.

Pseudohyperkalemia, Familial, 2, due to Red Cell Leak Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pseudohyperkalemia, Familial, 2, due to Red Cell Leak from the curated CTD Gene-Disease Associations dataset.

Krabbe Disease, Atypical, due to Saposin A Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Krabbe Disease, Atypical, due to Saposin A Deficiency from the curated CTD Gene-Disease Associations dataset.

HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION from the curated CTD Gene-Disease Associations dataset.

Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency from the curated CTD Gene-Disease Associations dataset.

Gaucher Disease, Atypical, Due To Saposin C Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Gaucher Disease, Atypical, Due To Saposin C Deficiency from the curated CTD Gene-Disease Associations dataset.

Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.

Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations from the curated CTD Gene-Disease Associations dataset.

Thrombophilia Due To Elevated Histidine-Rich Glycoprotein Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thrombophilia Due To Elevated Histidine-Rich Glycoprotein from the curated CTD Gene-Disease Associations dataset.

Thrombophilia due to Activated Protein C Resistance Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thrombophilia due to Activated Protein C Resistance from the curated CTD Gene-Disease Associations dataset.

THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Immunodeficiency due to Defect in CD3-Zeta Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immunodeficiency due to Defect in CD3-Zeta from the curated CTD Gene-Disease Associations dataset.

Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Metachromatic Leukodystrophy due to Saposin B Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Metachromatic Leukodystrophy due to Saposin B Deficiency from the curated CTD Gene-Disease Associations dataset.

Immunodeficiency due to Defect in MAPBP-Interacting Protein Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immunodeficiency due to Defect in MAPBP-Interacting Protein from the curated CTD Gene-Disease Associations dataset.

HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Immune dysfunction with T-cell inactivation due to calcium entry defect 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immune dysfunction with T-cell inactivation due to calcium entry defect 1 from the curated CTD Gene-Disease Associations dataset.

Immune dysfunction with T-cell inactivation due to calcium entry defect 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immune dysfunction with T-cell inactivation due to calcium entry defect 2 from the curated CTD Gene-Disease Associations dataset.

thrombocytopenia due to platelet alloimmunization Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease thrombocytopenia due to platelet alloimmunization in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

pneumoconiosis due to talc Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

hereditary spastic paraparesis due to a frame shift mutat Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hereditary spastic paraparesis due to a frame shift mutat in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

depressed suicide; suicide due to depression Gene Set

From GAD Gene-Disease Associations

genes associated with the disease depressed suicide; suicide due to depression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

due Gene Set

From GeneRIF Biological Term Annotations

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

anemia due to reduced life span of red cells Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the anemia due to reduced life span of red cells phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

decreased cervical spine flexion due to contractures of posterior cervical muscles Gene Set

From HPO Gene-Disease Associations

genes associated with the decreased cervical spine flexion due to contractures of posterior cervical muscles phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

anemia due to reduced life span of red cells Gene Set

From HPO Gene-Disease Associations

genes associated with the anemia due to reduced life span of red cells phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

restricted neck movement due to contractures Gene Set

From HPO Gene-Disease Associations

genes associated with the restricted neck movement due to contractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

chronic rhinitis due to narrow nasal airway Gene Set

From HPO Gene-Disease Associations

genes associated with the chronic rhinitis due to narrow nasal airway phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteomyelitis due to immunodeficiency Gene Set

From HPO Gene-Disease Associations

genes associated with the osteomyelitis due to immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) Gene Set

From HPO Gene-Disease Associations

genes associated with the osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

bowing of limbs due to multiple fractures Gene Set

From HPO Gene-Disease Associations

genes associated with the bowing of limbs due to multiple fractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

respiratory insufficiency due to muscle weakness Gene Set

From HPO Gene-Disease Associations

genes associated with the respiratory insufficiency due to muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteomyelitis leading to amputation due to slow healing fractures Gene Set

From HPO Gene-Disease Associations

genes associated with the osteomyelitis leading to amputation due to slow healing fractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

weakness due to upper motor neuron dysfunction Gene Set

From HPO Gene-Disease Associations

genes associated with the weakness due to upper motor neuron dysfunction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

self-mutilation of tongue and lips due to involuntary movements Gene Set

From HPO Gene-Disease Associations

genes associated with the self-mutilation of tongue and lips due to involuntary movements phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

respiratory insufficiency due to defective ciliary clearance Gene Set

From HPO Gene-Disease Associations

genes associated with the respiratory insufficiency due to defective ciliary clearance phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

recurrent infections due to aspiration Gene Set

From HPO Gene-Disease Associations

genes associated with the recurrent infections due to aspiration phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

generalized hypotonia due to defect at the neuromuscular junction Gene Set

From HPO Gene-Disease Associations

genes associated with the generalized hypotonia due to defect at the neuromuscular junction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

chronic hepatitis due to cryptospridium infection Gene Set

From HPO Gene-Disease Associations

genes associated with the chronic hepatitis due to cryptospridium infection phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

subperiosteal erosions due to secondary hyperparathyroidism Gene Set

From HPO Gene-Disease Associations

genes associated with the subperiosteal erosions due to secondary hyperparathyroidism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

painless fractures due to injury Gene Set

From HPO Gene-Disease Associations

genes associated with the painless fractures due to injury phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hepatic abscesses due to immunodeficiency Gene Set

From HPO Gene-Disease Associations

genes associated with the hepatic abscesses due to immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

cellulitis due to immunodeficiency Gene Set

From HPO Gene-Disease Associations

genes associated with the cellulitis due to immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

decreased sweating due to autonomic dysfunction Gene Set

From HPO Gene-Disease Associations

genes associated with the decreased sweating due to autonomic dysfunction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

intermittent episodes of respiratory insufficiency due to muscle weakness Gene Set

From HPO Gene-Disease Associations

genes associated with the intermittent episodes of respiratory insufficiency due to muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

orthostatic hypotension due to autonomic dysfunction Gene Set

From HPO Gene-Disease Associations

genes associated with the orthostatic hypotension due to autonomic dysfunction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

{chronic infections, due to mbl deficiency} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {chronic infections, due to mbl deficiency} phenotype from the curated OMIM Gene-Disease Associations dataset.

{hepatic fibrosis susceptibility due to schistosoma mansoni infection} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {hepatic fibrosis susceptibility due to schistosoma mansoni infection} phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to hrg deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to hrg deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to thrombomodulin defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to thrombomodulin defect phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency due to il2 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency due to il2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to protein s deficiency, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to protein s deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

bleeding disorder due to p2rx1 defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the bleeding disorder due to p2rx1 defect phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to phosphofructokinase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to phosphofructokinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

nephropathy due to cfhr5 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the nephropathy due to cfhr5 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

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

megaloblastic anemia due to dihydrofolate reductase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the megaloblastic anemia due to dihydrofolate reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to protein s deficiency, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to protein s deficiency, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

chronic granulomatous disease, autosomal, due to deficiency of cyba Gene Set

From OMIM Gene-Disease Associations

genes associated with the chronic granulomatous disease, autosomal, due to deficiency of cyba phenotype from the curated OMIM Gene-Disease Associations dataset.

?isolated growth hormone deficiency due to defect in ghrf Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?isolated growth hormone deficiency due to defect in ghrf phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to heparin cofactor ii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to heparin cofactor ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

obesity, morbid, due to leptin receptor deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the obesity, morbid, due to leptin receptor deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hypercholesterolemia, due to ligand-defective apo b Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypercholesterolemia, due to ligand-defective apo b phenotype from the curated OMIM Gene-Disease Associations dataset.

glucocorticoid deficiency, due to acth unresponsiveness Gene Set

From OMIM Gene-Disease Associations

genes associated with the glucocorticoid deficiency, due to acth unresponsiveness phenotype from the curated OMIM Gene-Disease Associations dataset.

disordered steroidogenesis due to cytochrome p450 oxidoreductase Gene Set

From OMIM Gene-Disease Associations

genes associated with the disordered steroidogenesis due to cytochrome p450 oxidoreductase phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy, congenital, due to partial lama2 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy, congenital, due to partial lama2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemorrhagic diathesis due to 'antithrombin' pittsburgh Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemorrhagic diathesis due to 'antithrombin' pittsburgh phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency due to purine nucleoside phosphorylase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency due to purine nucleoside phosphorylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to glutathione peroxidase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to glutathione peroxidase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to protein c deficiency, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to protein c deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

lacticacidemia due to pdx1 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the lacticacidemia due to pdx1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

omphalocele due to duplication of 1p31.3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the omphalocele due to duplication of 1p31.3 phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy, congenital, due to itga7 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy, congenital, due to itga7 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

anemia, hemolytic, due to umph1 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the anemia, hemolytic, due to umph1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

homocystinuria due to mthfr deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the homocystinuria due to mthfr deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency due to ada deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency due to ada deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to protein c deficiency, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to protein c deficiency, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

cirrhosis due to liver phosphorylase kinase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the cirrhosis due to liver phosphorylase kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

metachromatic leukodystrophy due to sap-b deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the metachromatic leukodystrophy due to sap-b deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

gigantism due to ghrf hypersecretion Gene Set

From OMIM Gene-Disease Associations

genes associated with the gigantism due to ghrf hypersecretion phenotype from the curated OMIM Gene-Disease Associations dataset.

obesity, morbid, due to leptin deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the obesity, morbid, due to leptin deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

pseudohyperkalemia, familial, 2, due to red cell leak Gene Set

From OMIM Gene-Disease Associations

genes associated with the pseudohyperkalemia, familial, 2, due to red cell leak phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia, familial, due to decreased release of plat Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia, familial, due to decreased release of plat phenotype from the curated OMIM Gene-Disease Associations dataset.

macrocytic anemia, refractory, due to 5q deletion, somatic Gene Set

From OMIM Gene-Disease Associations

genes associated with the macrocytic anemia, refractory, due to 5q deletion, somatic phenotype from the curated OMIM Gene-Disease Associations dataset.

growth retardation with deafness and mental retardation due to igf1 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the growth retardation with deafness and mental retardation due to igf1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hyperammonemia due to carbonic anhydrase va deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperammonemia due to carbonic anhydrase va deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to g6pd deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to g6pd deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

{hypercholesterolemia, familial, due to ldlr defect, modifier of} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {hypercholesterolemia, familial, due to ldlr defect, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to glutathione synthetase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to glutathione synthetase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

{drug-induced liver injury due to flucloxacillin} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {drug-induced liver injury due to flucloxacillin} phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to activated protein c resistance Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to activated protein c resistance phenotype from the curated OMIM Gene-Disease Associations dataset.

?male pseudohermaphroditism due to defective lh Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?male pseudohermaphroditism due to defective lh phenotype from the curated OMIM Gene-Disease Associations dataset.

hydrocephalus due to aqueductal stenosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the hydrocephalus due to aqueductal stenosis phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to elevated hrg Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to elevated hrg phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to adenylate kinase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to adenylate kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to glutathione reductase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to glutathione reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

emphysema due to aat deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the emphysema due to aat deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

obesity, adrenal insufficiency, and red hair due to pomc deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the obesity, adrenal insufficiency, and red hair due to pomc deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to antithrombin iii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to antithrombin iii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

erythrocytosis due to bisphosphoglycerate mutase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the erythrocytosis due to bisphosphoglycerate mutase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

thalassemia due to hb lepore Gene Set

From OMIM Gene-Disease Associations

genes associated with the thalassemia due to hb lepore phenotype from the curated OMIM Gene-Disease Associations dataset.

rickets due to defect in vitamin d 25-hydroxylation Gene Set

From OMIM Gene-Disease Associations

genes associated with the rickets due to defect in vitamin d 25-hydroxylation phenotype from the curated OMIM Gene-Disease Associations dataset.

aica-ribosiduria due to atic deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the aica-ribosiduria due to atic deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hypoaldosteronism, congenital, due to cmo i deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypoaldosteronism, congenital, due to cmo i deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

methylmalonic aciduria due to transcobalamin receptor defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the methylmalonic aciduria due to transcobalamin receptor defect phenotype from the curated OMIM Gene-Disease Associations dataset.

chronic granulomatous disease due to deficiency of ncf-2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the chronic granulomatous disease due to deficiency of ncf-2 phenotype from the curated OMIM Gene-Disease Associations dataset.

chronic granulomatous disease due to deficiency of ncf-1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the chronic granulomatous disease due to deficiency of ncf-1 phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

thrombophilia, x-linked, due to factor ix defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia, x-linked, due to factor ix defect phenotype from the curated OMIM Gene-Disease Associations dataset.

hypermethioninemia due to adenosine kinase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypermethioninemia due to adenosine kinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

{thrombophilia, susceptibility to, due to factor v leiden} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {thrombophilia, susceptibility to, due to factor v leiden} phenotype from the curated OMIM Gene-Disease Associations dataset.

dystonia, dopa-responsive, due to sepiapterin reductase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the dystonia, dopa-responsive, due to sepiapterin reductase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency due to defect in mapbp-interacting protein Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency due to defect in mapbp-interacting protein phenotype from the curated OMIM Gene-Disease Associations dataset.

pyogenic bacterial infections, recurrent, due to myd88 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the pyogenic bacterial infections, recurrent, due to myd88 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

neurodegeneration due to cerebral folate transport deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the neurodegeneration due to cerebral folate transport deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

goiter, familial, due to ttf-1 defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the goiter, familial, due to ttf-1 defect phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to thrombin defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to thrombin defect phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency due to ficolin 3 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency due to ficolin 3 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hyperfibrinolysis, familial, due to increased release of plat Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperfibrinolysis, familial, due to increased release of plat phenotype from the curated OMIM Gene-Disease Associations dataset.

adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to triosephosphate isomerase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to triosephosphate isomerase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

{resistance to malaria due to g6pd deficiency} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {resistance to malaria due to g6pd deficiency} phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to hexokinase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to hexokinase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemosiderosis, systemic, due to aceruloplasminemia Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemosiderosis, systemic, due to aceruloplasminemia phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy due to cpt ii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy due to cpt ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

emphysema-cirrhosis, due to aat deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the emphysema-cirrhosis, due to aat deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hypoaldosteronism, congenital, due to cmo ii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypoaldosteronism, congenital, due to cmo ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type Gene Set

From OMIM Gene-Disease Associations

genes associated with the methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type phenotype from the curated OMIM Gene-Disease Associations dataset.

?male infertility due to acrosin deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?male infertility due to acrosin deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy due to myoadenylate deaminase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy due to myoadenylate deaminase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) Gene Set

From Reactome Pathways 2014

proteins participating in the Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) pathway from the Reactome Pathways dataset.

Apoptosis-related network due to altered Notch3 in ovarian cancer(Homo sapiens) Gene Set

From WikiPathways Pathways 2014

proteins participating in the Apoptosis-related network due to altered Notch3 in ovarian cancer(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset.

Malignant Hyperpyrexia Due To Anesthesia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Malignant Hyperpyrexia Due To Anesthesia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Functional Diarrhoea (Due To Spastic Colon) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Functional Diarrhoea (Due To Spastic Colon) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Peripheral Neuropathy Due To And Following Chemotherapy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Peripheral Neuropathy Due To And Following Chemotherapy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hemolytic Disease Of Fetus Or Newborn Due To Abo Immunization Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hemolytic Disease Of Fetus Or Newborn Due To Abo Immunization in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Viral Gastroenteritis Due To Rotavirus Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Viral Gastroenteritis Due To Rotavirus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Dementia Due To Alzheimer'S Disease (Disorder) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Dementia Due To Alzheimer'S Disease (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Whooping Cough Due To Unspecified Organism Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Whooping Cough Due To Unspecified Organism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Osteopenia Due To Disuse Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Osteopenia Due To Disuse in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Scid Due To Ada Deficiency, Early-Onset Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Scid Due To Ada Deficiency, Early-Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hypermethioninemia Due To Adenosine Kinase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hypermethioninemia Due To Adenosine Kinase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Disease Due To Parvoviridae Gene Set

From DisGeNET Gene-Disease Associations

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

Chronic Respiratory Disease Due To Mycoplasma Gallisepticum Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Chronic Respiratory Disease Due To Mycoplasma Gallisepticum in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Primary Adenocarcinoma Of Lower Third Of Esophagus Due To Barrett Esophagus Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Primary Adenocarcinoma Of Lower Third Of Esophagus Due To Barrett Esophagus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Addison'S Disease Due To Autoimmunity Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Addison'S Disease Due To Autoimmunity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Adenylate Kinase Deficiency, Hemolytic Anemia Due To Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Adenylate Kinase Deficiency, Hemolytic Anemia Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Eye Disorder Due To Diabetes Mellitus Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Eye Disorder Due To Diabetes Mellitus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Ketoacidosis Due To Acute Alcohol Intoxication Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Ketoacidosis Due To Acute Alcohol Intoxication in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Human Anaplasmosis Due To Anaplasma Phagocytophilum Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Human Anaplasmosis Due To Anaplasma Phagocytophilum in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hypercholesterolemia, Familial, Due To Ligand-Defective Apolipoprotein B Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hypercholesterolemia, Familial, Due To Ligand-Defective Apolipoprotein B in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

End Stage Renal Disease Due To Hypertension Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease End Stage Renal Disease Due To Hypertension in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Male Infertility With Teratozoospermia Due To Single Gene Mutation Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Male Infertility With Teratozoospermia Due To Single Gene Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hydrops Fetalis Due To Alpha Thalassemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hydrops Fetalis Due To Alpha Thalassemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Disease Due To Acanthocephala Gene Set

From DisGeNET Gene-Disease Associations

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

Fast Acetylator Due To N-Acetyltransferase Enzyme Variant Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Fast Acetylator Due To N-Acetyltransferase Enzyme Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Antibody Deficiency Due To Defect In Cd19 Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Antibody Deficiency Due To Defect In Cd19 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Disease Due To Neisseria Gene Set

From DisGeNET Gene-Disease Associations

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

Osteomyelitis Due To Staphylococcus Aureus Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Osteomyelitis Due To Staphylococcus Aureus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Chronic Hepatitis Due To Cryptosporidium Infection Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Chronic Hepatitis Due To Cryptosporidium Infection in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

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

From DisGeNET Gene-Disease Associations

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

Hemosiderosis, Systemic, Due To Aceruloplasminemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hemosiderosis, Systemic, Due To Aceruloplasminemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infection Due To Brucella Suis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infection Due To Brucella Suis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Intestinal Obstruction Co-Occurrent And Due To Decreased Peristalsis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Intestinal Obstruction Co-Occurrent And Due To Decreased Peristalsis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Slow Acetylator Due To N-Acetyltransferase Enzyme Variant Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Slow Acetylator Due To N-Acetyltransferase Enzyme Variant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Body Skin Hyperlaxity Due To Vitamin K Dependent Coagulation Factor Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Body Skin Hyperlaxity Due To Vitamin K Dependent Coagulation Factor Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Recurrent Infections Due To Aspiration Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Recurrent Infections Due To Aspiration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Duodenal Obstruction Due To Malrotation Of Intestine Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Duodenal Obstruction Due To Malrotation Of Intestine in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Krabbe Disease, Atypical, Due To Saposin A Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Krabbe Disease, Atypical, Due To Saposin A Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infection Due To Mycobacterium Kansasii Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infection Due To Mycobacterium Kansasii in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hydronephrosis Due To Pujo Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hydronephrosis Due To Pujo in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Thyrotoxicosis Due To Pituitary Thyroid Hormone Resistance Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Thyrotoxicosis Due To Pituitary Thyroid Hormone Resistance in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Glutathione Peroxidase Deficiency, Hemolytic Anemia Possibly Due To Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Glutathione Peroxidase Deficiency, Hemolytic Anemia Possibly Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hemolytic Anemia Due To Hexokinase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hemolytic Anemia Due To Hexokinase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Disseminated Due To Other Mycobacteria Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Disseminated Due To Other Mycobacteria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Diabetes (Mellitus) Due To Autoimmune Process Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Diabetes (Mellitus) Due To Autoimmune Process in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Diabetes (Mellitus) Due To Immune Mediated Pancreatic Islet Beta-Cell Destruction Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Diabetes (Mellitus) Due To Immune Mediated Pancreatic Islet Beta-Cell Destruction in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Scoliosis Due To Bony Malformation Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Scoliosis Due To Bony Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infection Due To Vancomycin Resistant Staphylococcus Aureus Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infection Due To Vancomycin Resistant Staphylococcus Aureus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Early-Onset Axonal Neuropathy Due To Mitofusin 2 Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Early-Onset Axonal Neuropathy Due To Mitofusin 2 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Acute Renal Failure Due To Ischemia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Acute Renal Failure Due To Ischemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Dementia Due To Parkinson'S Disease Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Dementia Due To Parkinson'S Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Urticaria Due To Cold And Heat Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Urticaria Due To Cold And Heat in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Urticaria Due To Cold Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Urticaria Due To Cold in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Acute Bronchitis Due To Respiratory Syncytial Virus Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Acute Bronchitis Due To Respiratory Syncytial Virus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Irritant Contact Dermatitis Due To Incontinence Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Irritant Contact Dermatitis Due To Incontinence in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Thrombotic Disease, Due To Protein C Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Thrombotic Disease, Due To Protein C Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Gaucher Disease, Atypical, Due To Saposin C Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Gaucher Disease, Atypical, Due To Saposin C Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Metachromatic Leukodystrophy Due To Saposin B Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Metachromatic Leukodystrophy Due To Saposin B Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hemolytic Disease Of Fetus Or Newborn Due To Rhd Isoimmunization Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hemolytic Disease Of Fetus Or Newborn Due To Rhd Isoimmunization in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Extraoral Halitosis Due To Methanethiol Oxidase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

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

Complement Component 4, Partial Deficiency Of, Due To Dysfunctional C1 Inhibitor Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Complement Component 4, Partial Deficiency Of, Due To Dysfunctional C1 Inhibitor in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Dermatophilosis Due To Dermatophilus Congolensis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Dermatophilosis Due To Dermatophilus Congolensis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Zinc Deficiency, Neonatal, Due To Low Breast Milk Zinc Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Zinc Deficiency, Neonatal, Due To Low Breast Milk Zinc in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infection Due To Clostridium Chauvoei Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infection Due To Clostridium Chauvoei in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Developmental And Speech Delay Due To Sox5 Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Developmental And Speech Delay Due To Sox5 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Chronic Rhinitis Due To Narrow Nasal Airway Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Chronic Rhinitis Due To Narrow Nasal Airway in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Adult-Onset Distal Myopathy Due To Valosin Containing Protein Mutation Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Adult-Onset Distal Myopathy Due To Valosin Containing Protein Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Osteomalacia Due To Vitamin D Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Osteomalacia Due To Vitamin D Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Polycythemia Due To Erythropoietin Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Polycythemia Due To Erythropoietin in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Polycythemia Due To Excess Erythopoetin Production Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Polycythemia Due To Excess Erythopoetin Production in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Polycythemia Due To Fall In Plasma Volume Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Polycythemia Due To Fall In Plasma Volume in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Polycythemia Due To High Altitude Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Polycythemia Due To High Altitude in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Polycythemia Due To Stress Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Polycythemia Due To Stress in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Distal Muscle Atrophy Due To Neurologic Disease Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Distal Muscle Atrophy Due To Neurologic Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Respiratory Insufficiency Due To Muscle Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Respiratory Insufficiency Due To Muscle Weakness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Intermittent Episodes Of Respiratory Insufficiency Due To Muscle Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Intermittent Episodes Of Respiratory Insufficiency Due To Muscle Weakness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Psychomotor Retardation Due To S-Adenosylhomocysteine Hydrolase Deficiency Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Psychomotor Retardation Due To S-Adenosylhomocysteine Hydrolase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Respiratory Insufficiency Due To Defective Ciliary Clearance Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Respiratory Insufficiency Due To Defective Ciliary Clearance in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Orthostatic Hypotension Due To Autonomic Dysfunction Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Orthostatic Hypotension Due To Autonomic Dysfunction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Osteomyelitis Leading To Amputation Due To Slow Healing Fractures Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Osteomyelitis Leading To Amputation Due To Slow Healing Fractures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Chromosomal Mosaicism Due To Mitotic Instability Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Chromosomal Mosaicism Due To Mitotic Instability in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Weakness Due To Upper Motor Neuron Dysfunction Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Weakness Due To Upper Motor Neuron Dysfunction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Cephalhematoma Due To Birth Trauma Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Cephalhematoma Due To Birth Trauma in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Generalized Hypotonia Due To Defect At The Neuromuscular Junction Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Generalized Hypotonia Due To Defect At The Neuromuscular Junction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Bowing Of Limbs Due To Multiple Fractures Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Bowing Of Limbs Due To Multiple Fractures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Restricted Neck Movement Due To Contractures Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Restricted Neck Movement Due To Contractures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Decreased Cervical Spine Flexion Due To Contractures Of Posterior Cervical Muscles Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Decreased Cervical Spine Flexion Due To Contractures Of Posterior Cervical Muscles in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Painless Fractures Due To Injury Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Painless Fractures Due To Injury in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Decreased Sweating Due To Autonomic Dysfunction Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Decreased Sweating Due To Autonomic Dysfunction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Acanthocytosis Due To Band 3 Ht Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Acanthocytosis Due To Band 3 Ht in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Self-Mutilation Of Tongue And Lips Due To Involuntary Movements Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Self-Mutilation Of Tongue And Lips Due To Involuntary Movements in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Apoptosis related network due to altered Notch3 in ovarian cancer Gene Set

From WikiPathways Pathways 2024

proteins participating in the Apoptosis related network due to altered Notch3 in ovarian cancer pathway from the WikiPathways Pathways 2024 dataset.

Aberrant regulation of mitotic G1/S transition in cancer due to RB1 defects Gene Set

From Reactome Pathways 2024

proteins participating in the Aberrant regulation of mitotic G1/S transition in cancer due to RB1 defects pathway from the Reactome Pathways 2024 dataset.

Aberrant regulation of mitotic cell cycle due to RB1 defects Gene Set

From Reactome Pathways 2024

proteins participating in the Aberrant regulation of mitotic cell cycle due to RB1 defects pathway from the Reactome Pathways 2024 dataset.

Aberrant regulation of mitotic exit in cancer due to RB1 defects Gene Set

From Reactome Pathways 2024

proteins participating in the Aberrant regulation of mitotic exit in cancer due to RB1 defects pathway from the Reactome Pathways 2024 dataset.

Defective DNA double strand break response due to BARD1 loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective DNA double strand break response due to BARD1 loss of function pathway from the Reactome Pathways 2024 dataset.

Defective DNA double strand break response due to BRCA1 loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective DNA double strand break response due to BRCA1 loss of function pathway from the Reactome Pathways 2024 dataset.

Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function pathway from the Reactome Pathways 2024 dataset.

Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function pathway from the Reactome Pathways 2024 dataset.

Defective Inhibition of DNA Recombination at Telomere Due to ATRX Mutations Gene Set

From Reactome Pathways 2024

proteins participating in the Defective Inhibition of DNA Recombination at Telomere Due to ATRX Mutations pathway from the Reactome Pathways 2024 dataset.

Defective Inhibition of DNA Recombination at Telomere Due to DAXX Mutations Gene Set

From Reactome Pathways 2024

proteins participating in the Defective Inhibition of DNA Recombination at Telomere Due to DAXX Mutations pathway from the Reactome Pathways 2024 dataset.

Defective Intrinsic Pathway for Apoptosis Due to p14ARF Loss of Function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective Intrinsic Pathway for Apoptosis Due to p14ARF Loss of Function pathway from the Reactome Pathways 2024 dataset.

Defective homologous recombination repair (HRR) due to BRCA1 loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective homologous recombination repair (HRR) due to BRCA1 loss of function pathway from the Reactome Pathways 2024 dataset.

Defective homologous recombination repair (HRR) due to BRCA2 loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective homologous recombination repair (HRR) due to BRCA2 loss of function pathway from the Reactome Pathways 2024 dataset.

Defective homologous recombination repair (HRR) due to PALB2 loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective homologous recombination repair (HRR) due to PALB2 loss of function pathway from the Reactome Pathways 2024 dataset.

Defective visual phototransduction due to ABCA4 loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective visual phototransduction due to ABCA4 loss of function pathway from the Reactome Pathways 2024 dataset.

Defective visual phototransduction due to LRAT loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective visual phototransduction due to LRAT loss of function pathway from the Reactome Pathways 2024 dataset.

Defective visual phototransduction due to OPN1LW loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective visual phototransduction due to OPN1LW loss of function pathway from the Reactome Pathways 2024 dataset.

Defective visual phototransduction due to OPN1MW loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective visual phototransduction due to OPN1MW loss of function pathway from the Reactome Pathways 2024 dataset.

Defective visual phototransduction due to OPN1SW loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective visual phototransduction due to OPN1SW loss of function pathway from the Reactome Pathways 2024 dataset.

Defective visual phototransduction due to RDH12 loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective visual phototransduction due to RDH12 loss of function pathway from the Reactome Pathways 2024 dataset.

Defective visual phototransduction due to RDH5 loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective visual phototransduction due to RDH5 loss of function pathway from the Reactome Pathways 2024 dataset.

Defective visual phototransduction due to STRA6 loss of function Gene Set

From Reactome Pathways 2024

proteins participating in the Defective visual phototransduction due to STRA6 loss of function pathway from the Reactome Pathways 2024 dataset.

Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 pathway from the Reactome Pathways 2024 dataset.

Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 pathway from the Reactome Pathways 2024 dataset.

Evasion of Oncogene Induced Senescence Due to p14ARF Defects Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oncogene Induced Senescence Due to p14ARF Defects pathway from the Reactome Pathways 2024 dataset.

Evasion of Oncogene Induced Senescence Due to p16INK4A Defects Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oncogene Induced Senescence Due to p16INK4A Defects pathway from the Reactome Pathways 2024 dataset.

Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 pathway from the Reactome Pathways 2024 dataset.

Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 pathway from the Reactome Pathways 2024 dataset.

Evasion of Oxidative Stress Induced Senescence Due to p14ARF Defects Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oxidative Stress Induced Senescence Due to p14ARF Defects pathway from the Reactome Pathways 2024 dataset.

Evasion of Oxidative Stress Induced Senescence Due to p16INK4A Defects Gene Set

From Reactome Pathways 2024

proteins participating in the Evasion of Oxidative Stress Induced Senescence Due to p16INK4A Defects pathway from the Reactome Pathways 2024 dataset.

Loss of function of TP53 in cancer due to loss of tetramerization ability Gene Set

From Reactome Pathways 2024

proteins participating in the Loss of function of TP53 in cancer due to loss of tetramerization ability pathway from the Reactome Pathways 2024 dataset.

Severe congenital encephalopathy due to MECP2 mutation Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Severe congenital encephalopathy due to MECP2 mutation from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Male infertility due to globozoospermia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Male infertility due to globozoospermia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Congenital muscular dystrophy due to LMNA mutation Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Congenital muscular dystrophy due to LMNA mutation from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Male infertility due to globozoospermia Gene Set

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

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

Male infertility due to acephalic spermatozoa Gene Set

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

genes co-occuring with the disease Male infertility due to acephalic spermatozoa in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Thrombocytopenia due to platelet alloimmunization Gene Set

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

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

Polyneuropathy due to drug Gene Set

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

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

Congenital muscular dystrophy due to LMNA mutation Gene Set

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

genes co-occuring with the disease Congenital muscular dystrophy due to LMNA mutation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Encephalopathy due to defective mitochondrial and peroxisomal fission 1 Gene Set

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

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

Thrombophilia due to activated protein C resistance Gene Set

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

genes co-occuring with the disease Thrombophilia due to activated protein C resistance in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Thrombophilia due to thrombin defect Gene Set

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

genes co-occuring with the disease Thrombophilia due to thrombin defect 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.

Congenital muscular dystrophy due to integrin alpha-7 deficiency Gene Set

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

genes co-occuring with the disease Congenital muscular dystrophy due to integrin alpha-7 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Gene Set

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

genes co-occuring with the disease Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Severe congenital encephalopathy due to MECP2 mutation Gene Set

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

genes co-occuring with the disease Severe congenital encephalopathy due to MECP2 mutation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Thrombophilia due to HRG deficiency Gene Set

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

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

X-linked thrombophilia due to factor IX defect Gene Set

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

genes co-occuring with the disease X-linked thrombophilia due to factor IX defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Autosomal recessive thrombophilia due to protein C deficiency Gene Set

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

genes co-occuring with the disease Autosomal recessive thrombophilia due to protein C deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Autosomal dominant thrombophilia due to protein C deficiency Gene Set

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

genes co-occuring with the disease Autosomal dominant thrombophilia due to protein C deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Thrombophilia due to thrombomodulin defect Gene Set

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

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

Autosomal dominant thrombophilia due to protein S deficiency Gene Set

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

genes co-occuring with the disease Autosomal dominant thrombophilia due to protein S deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hyperphenylalaninemia due to tetrahydrobiopterin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Thrombophilia due to activated protein C resistance Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Thrombophilia due to activated protein C resistance phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Thrombophilia due to protein C deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Thrombophilia due to protein C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hereditary thrombophilia due to congenital protein C deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hereditary thrombophilia due to congenital protein C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

SCID due to ADA deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the SCID due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glycogen storage disease due to glycogen branching enzyme deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to glycogen branching enzyme deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Predisposition to invasive fungal disease due to CARD9 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Predisposition to invasive fungal disease due to CARD9 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Homocystinuria due to methylene tetrahydrofolate reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Homocystinuria due to methylene tetrahydrofolate reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Thrombophilia due to thrombin defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Thrombophilia due to thrombin defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal recessive ataxia due to ubiquinone deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive ataxia due to ubiquinone deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glycogen storage disease due to acid maltase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to acid maltase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hepatoencephalopathy due to combined oxidative phosphorylation defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hepatoencephalopathy due to combined oxidative phosphorylation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Syndromic multisystem autoimmune disease due to ITCH deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Syndromic multisystem autoimmune disease due to ITCH deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to DCLRE1C deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to DCLRE1C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Immunodeficiency due to ficolin3 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Immunodeficiency due to ficolin3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Fatal mitochondrial disease due to combined oxidative phosphorylation defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Fatal mitochondrial disease due to combined oxidative phosphorylation defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Sulfite oxidase deficiency due to molybdenum cofactor deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Neonatal intrahepatic cholestasis due to citrin deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Neonatal intrahepatic cholestasis due to citrin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Familial hyperthyroidism due to mutations in TSH receptor Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Familial hyperthyroidism due to mutations in TSH receptor phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hypothyroidism due to TSH receptor mutations Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hypothyroidism due to TSH receptor mutations phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Lissencephaly due to TUBA1A mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Lissencephaly due to TUBA1A mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Peroxisome biogenesis disorder due to PEX1 defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Peroxisome biogenesis disorder due to PEX1 defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short stature due to growth hormone secretagogue receptor deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short stature due to growth hormone secretagogue receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Interstitial lung disease due to ABCA3 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Interstitial lung disease due to ABCA3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Lissencephaly due to LIS1 mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Lissencephaly due to LIS1 mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Obesity due to leptin receptor gene deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Obesity due to leptin receptor gene deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short stature due to partial GHR deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short stature due to partial GHR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital lipoid adrenal hyperplasia due to STAR deficency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital lipoid adrenal hyperplasia due to STAR deficency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

T-B+ severe combined immunodeficiency due to JAK3 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the T-B+ severe combined immunodeficiency due to JAK3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to phosphoglycerate kinase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hydrocephalus due to aqueductal stenosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hydrocephalus due to aqueductal stenosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

X-linked lymphoproliferative disease due to SH2D1A deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the X-linked lymphoproliferative disease due to SH2D1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Lissencephaly due to doublecortin gene mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Lissencephaly due to doublecortin gene mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glycogen storage disease due to glucose-6-phosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to glucose-6-phosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to CD3gamma deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to CD3gamma deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Dopa-responsive dystonia due to sepiapterin reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Dopa-responsive dystonia due to sepiapterin reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to partial RAG1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to partial RAG1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to ZAP70 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to ZAP70 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Thrombophilia due to protein S deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Thrombophilia due to protein S deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Obesity due to pro-opiomelanocortin deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Obesity due to pro-opiomelanocortin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Gaucher disease due to saposin C deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Gaucher disease due to saposin C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Krabbe disease due to saposin A deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Krabbe disease due to saposin A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hemolytic anemia due to glucophosphate isomerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hemolytic anemia due to glucophosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital muscular dystrophy due to partial LAMA2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital muscular dystrophy due to partial LAMA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Obesity due to melanocortin 4 receptor deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Obesity due to melanocortin 4 receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital muscular dystrophy due to LMNA mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital muscular dystrophy due to LMNA mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Primary familial polycythemia due to EPO receptor mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Primary familial polycythemia due to EPO receptor mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Growth delay due to insulin-like growth factor I resistance Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Growth delay due to insulin-like growth factor I resistance phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hyperinsulinism due to HNF1A deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hyperinsulinism due to HNF1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short stature due to growth hormone qualitative anomaly Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short stature due to growth hormone qualitative anomaly phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glycogen storage disorder due to hepatic glycogen synthase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disorder due to hepatic glycogen synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Encephalopathy due to GLUT1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Encephalopathy due to GLUT1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hyperinsulinism due to glucokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hyperinsulinism due to glucokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glycogen storage disease due to muscle beta-enolase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to muscle beta-enolase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to LRBA deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to LRBA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to STK4 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to STK4 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to STIM1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to STIM1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Epidermolysis bullosa simplex due to plakophilin deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Epidermolysis bullosa simplex due to plakophilin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to CARD11 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to CARD11 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glycogen storage disease due to SLC37A4 mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to SLC37A4 mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to DOCK8 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to DOCK8 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital muscular dystrophy due to integrin alpha-7 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital muscular dystrophy due to integrin alpha-7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Limb-girdle muscular dystrophy due to POMK deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Limb-girdle muscular dystrophy due to POMK deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Vasculitis due to ADA2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Vasculitis due to ADA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glycogen storage disease due to muscle and heart glycogen synthase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to muscle and heart glycogen synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Microcephalic primordial dwarfism due to RTTN deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Microcephalic primordial dwarfism due to RTTN deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Ketoacidosis due to monocarboxylate transporter-1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Ketoacidosis due to monocarboxylate transporter-1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Metabolic myopathy due to lactate transporter defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Metabolic myopathy due to lactate transporter defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Microcephalic primordial dwarfism due to ZNF335 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Microcephalic primordial dwarfism due to ZNF335 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autism spectrum disorder due to AUTS2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autism spectrum disorder due to AUTS2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Pyogenic bacterial infections due to MyD88 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Pyogenic bacterial infections due to MyD88 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Methylmalonic acidemia due to transcobalamin receptor defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Methylmalonic acidemia due to transcobalamin receptor defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Childhood encephalopathy due to thiamine pyrophosphokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Childhood encephalopathy due to thiamine pyrophosphokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to CTPS1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to CTPS1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal recessive severe congenital neutropenia due to CSF3R deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive severe congenital neutropenia due to CSF3R deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Neurofibromatosis due to NF1 mutation or intragenic deletion Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Neurofibromatosis due to NF1 mutation or intragenic deletion phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to ORAI1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to ORAI1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hyperinsulinism due to INSR deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hyperinsulinism due to INSR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Immunodeficiency due to CD25 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Immunodeficiency due to CD25 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Obesity due to SIM1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Obesity due to SIM1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hemolytic anemia due to hexokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hemolytic anemia due to hexokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

X-linked lymphoproliferative disease due to XIAP deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the X-linked lymphoproliferative disease due to XIAP deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to CARMIL2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to CARMIL2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Growth delay due to insulin-like growth factor deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Growth delay due to insulin-like growth factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Immunodeficiency due to MASP-2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Immunodeficiency due to MASP-2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital brain dysgenesis due to glutamine synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital brain dysgenesis due to glutamine synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Obesity due to prohormone convertase I deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Obesity due to prohormone convertase I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Obesity due to congenital leptin deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Obesity due to congenital leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hyperlipidemia due to hepatic triglyceride lipase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hyperlipidemia due to hepatic triglyceride lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Short stature due to primary acid-labile subunit deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Short stature due to primary acid-labile subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Immunodeficiency due to defect in CD3-gamma Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Immunodeficiency due to defect in CD3-gamma phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

HNSHA due to aldolase A deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the HNSHA due to aldolase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to moesin deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to moesin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hemolytic anemia due to erythrocyte adenosine deaminase overproduction Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hemolytic anemia due to erythrocyte adenosine deaminase overproduction phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hemolytic anemia due to adenylate kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hemolytic anemia due to adenylate kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to DNA-PKcs deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to DNA-PKcs deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Encephalopathy due to defective mitochondrial and peroxisomal fission Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to CORO1A deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to CORO1A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to OX40 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to OX40 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to IKK2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to IKK2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Myopathy due to calsequestrin and SERCA1 protein overload Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Myopathy due to calsequestrin and SERCA1 protein overload phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal dominant hyperinsulinism due to SUR1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal dominant hyperinsulinism due to SUR1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hyperinsulinism due to HNF4A deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hyperinsulinism due to HNF4A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hemolytic anemia due to glutathione reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hemolytic anemia due to glutathione reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to MALT1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to MALT1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to LCK deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to LCK deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Immunodeficiency due to a late component of complement deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Immunodeficiency due to a late component of complement deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Lactic aciduria due to D-lactic acid Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Lactic aciduria due to D-lactic acid phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Recurrent Neisseria infections due to factor D deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Recurrent Neisseria infections due to factor D deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hyperphenylalaninemia due to DNAJC12 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hyperphenylalaninemia due to DNAJC12 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Obesity due to CEP19 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Obesity due to CEP19 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Pancytopenia due to IKZF1 mutations Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Pancytopenia due to IKZF1 mutations phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Progressive retinal dystrophy due to retinol transport defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Progressive retinal dystrophy due to retinol transport defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe combined immunodeficiency due to LAT deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Severe combined immunodeficiency due to LAT deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Combined immunodeficiency due to GINS1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Combined immunodeficiency due to GINS1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hereditary thrombophilia due to congenital histidine-rich Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hereditary thrombophilia due to congenital histidine-rich phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Juvenile arthritis due to defect in LA Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Juvenile arthritis due to defect in LA phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Neurometabolic disorder due to serine deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Neurometabolic disorder due to serine deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Immunodeficiency due to purine nucleoside phosphorylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Immunodeficiency due to purine nucleoside phosphorylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Hereditary thrombophilia due to congenital protein S deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hereditary thrombophilia due to congenital protein S deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

X-linked acrogigantism due to Xq26 microduplication Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the X-linked acrogigantism due to Xq26 microduplication phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Male infertility due to gonadal dysgenesis or sperm disorder Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Male infertility due to gonadal dysgenesis or sperm disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Female infertility due to zona pellucida defect Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Female infertility due to zona pellucida defect phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Lynch syndrome:Turcot syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome:Turcot syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary cancer-predisposing syndrome:Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary cancer-predisposing syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Zunich neuroectodermal syndrome:Zunich neuroectodermal syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Zunich neuroectodermal syndrome:Zunich neuroectodermal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Von Hippel-Lindau syndrome:Hereditary cancer-predisposing syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Von Hippel-Lindau syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Noonan syndrome and Noonan-related syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome and Noonan-related syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lynch syndrome:Hereditary cancer-predisposing syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lynch syndrome:Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Marfan's syndrome:Marfan's syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Marfan's syndrome:Marfan's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary cancer-predisposing syndrome:Peutz-Jeghers syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary cancer-predisposing syndrome:Peutz-Jeghers syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

IFAP syndrome with or without BRESHECK syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the IFAP syndrome with or without BRESHECK syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lynch syndrome I:Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome I:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary cancer-predisposing syndrome:Hereditary cancer-predisposing syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary cancer-predisposing syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Miller-McKusick-Malvaux-Syndrome (3M Syndrome) Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Miller-McKusick-Malvaux-Syndrome (3M Syndrome) from the curated CTD Gene-Disease Associations dataset.

Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 from the curated CTD Gene-Disease Associations dataset.

menarch; natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious Gene Set

From GAD Gene-Disease Associations

genes associated with the disease menarch; natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

amyloidosis; behcet syndrome; familial mediterranean fever; irritable bowel syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease amyloidosis; behcet syndrome; familial mediterranean fever; irritable bowel syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; cystic fibrosis; klinefelter syndrome; klinefelter's syndrome; oligospermia; sex chromosome aberrations; translocation, genetic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; cystic fibrosis; klinefelter syndrome; klinefelter's syndrome; oligospermia; sex chromosome aberrations; translocation, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection; wounds and injuries Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyperhomocysteinemia; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperhomocysteinemia; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adult respiratory distress syndrome; multiple organ failure; respiratory distress syndrome, adult; wounds and injuries Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; multiple organ failure; respiratory distress syndrome, adult; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cornelia de lange syndrome; de lange syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cornelia de lange syndrome; de lange syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fatigue syndrome, chronic; fatigue syndrome; postviral Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fatigue syndrome, chronic; fatigue syndrome; postviral in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; aortic aneurysm, thoracic; marfan syndrome; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; aortic aneurysm, thoracic; marfan syndrome; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

resp distress syndrome neonatal; respiratory distress syndrome, newborn Gene Set

From GAD Gene-Disease Associations

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

obstetric labor, premature; resp distress syndrome neonatal; respiratory distress syndrome, newborn; tachycardia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease obstetric labor, premature; resp distress syndrome neonatal; respiratory distress syndrome, newborn; tachycardia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious 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.

lung diseases; resp distress syndrome neonatal; respiratory distress syndrome, newborn Gene Set

From GAD Gene-Disease Associations

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

hyperandrogenism; insulin resistance; obesity; polycystic ovarian syndrome; polycystic ovary syndrome; thinness Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperandrogenism; insulin resistance; obesity; polycystic ovarian syndrome; polycystic ovary syndrome; thinness in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

restless legs syndrome; tourette syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease restless legs syndrome; tourette syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

endometriosis; infertility, female; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease endometriosis; infertility, female; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

obesity; natural menopause; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder Gene Set

From GAD Gene-Disease Associations

genes associated with the disease obesity; natural menopause; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fetal alcohol syndrome; syndrome; fetal, alcohol (dysmorphic) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fetal alcohol syndrome; syndrome; fetal, alcohol (dysmorphic) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

behcet syndrome; uveomeningoencephalitic syndrome Gene Set

From GAD Gene-Disease Associations

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

hyperandrogenism; hyperinsulinism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperandrogenism; hyperinsulinism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

autoimmune thyroiditis; helicobacter infections; thyroiditis, autoimmune; turner syndrome; xo syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease autoimmune thyroiditis; helicobacter infections; thyroiditis, autoimmune; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

infertility, female; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease infertility, female; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

autoimmune diseases; chromosome aberrations; chromosome abnormality; turner syndrome; xo syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease autoimmune diseases; chromosome aberrations; chromosome abnormality; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

melas syndrome; merrf syndrome Gene Set

From GAD Gene-Disease Associations

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

haemolytic-uraemic syndrome; hemolytic-uremic syndrome; recurrence Gene Set

From GAD Gene-Disease Associations

genes associated with the disease haemolytic-uraemic syndrome; hemolytic-uremic syndrome; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder Gene Set

From GAD Gene-Disease Associations

genes associated with the disease natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

infertility; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease infertility; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; genetic diseases, inborn; kallmann syndrome; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; genetic diseases, inborn; kallmann syndrome; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

angelman syndrome; rett syndrome; seizures Gene Set

From GAD Gene-Disease Associations

genes associated with the disease angelman syndrome; rett syndrome; seizures in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arthritis; carpal tunnel syndrome; cryoglobulinemia; hepatitis c, chronic; sjogren's syndrome; thyroiditis, autoimmune Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arthritis; carpal tunnel syndrome; cryoglobulinemia; hepatitis c, chronic; sjogren's syndrome; thyroiditis, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

glucose intolerance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glucose intolerance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

escherichia coli infections; haemolytic-uraemic syndrome; hemolytic-uremic syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease escherichia coli infections; haemolytic-uraemic syndrome; hemolytic-uremic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adult respiratory distress syndrome; respiratory distress syndrome, adult Gene Set

From GAD Gene-Disease Associations

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

digeorge syndrome; memory disorders; pharyngeal pouch; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease digeorge syndrome; memory disorders; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adult respiratory distress syndrome; chromosome deletion; respiratory distress syndrome, adult Gene Set

From GAD Gene-Disease Associations

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

abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities Gene Set

From GAD Gene-Disease Associations

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

insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiomyopathy, hypertrophic; hypertrophic cardiomyopathy; noonan syndrome; pulmonary valve stenosis; syndrome; turner's phenotype, karyotype normal Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiomyopathy, hypertrophic; hypertrophic cardiomyopathy; noonan syndrome; pulmonary valve stenosis; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic renal failure; haemolytic-uraemic syndrome; hemolytic-uremic syndrome; kidney failure, chronic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic renal failure; haemolytic-uraemic syndrome; hemolytic-uremic syndrome; kidney failure, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

metabolic syndrome ; metabolic syndrome Gene Set

From GAD Gene-Disease Associations

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

obesity; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease obesity; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

digeorge syndrome; pharyngeal pouch; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease digeorge syndrome; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fatigue; fatigue syndrome, chronic; fatigue syndrome; postviral Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fatigue; fatigue syndrome, chronic; fatigue syndrome; postviral in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

haemolytic-uraemic syndrome; hemolytic-uremic syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease haemolytic-uraemic syndrome; hemolytic-uremic syndrome 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.

inflammation; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease inflammation; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

birth weight; fetal alcohol syndrome; fetal growth retardation; intrauterine growth retardation; syndrome; fetal, alcohol (dysmorphic) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease birth weight; fetal alcohol syndrome; fetal growth retardation; intrauterine growth retardation; syndrome; fetal, alcohol (dysmorphic) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

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

From GAD Gene-Disease Associations

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

acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious Gene Set

From GAD Gene-Disease Associations

genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; klinefelter syndrome; klinefelter's syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; klinefelter syndrome; klinefelter's syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

brugada syndrome; chromosome deletion; death, sudden, cardiac; long qt syndrome; sudden cardiac death Gene Set

From GAD Gene-Disease Associations

genes associated with the disease brugada syndrome; chromosome deletion; death, sudden, cardiac; long qt syndrome; sudden cardiac death in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hantavirus infections; hantavirus pulmonary syndrome; heart diseases; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hantavirus infections; hantavirus pulmonary syndrome; heart diseases; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adenomatous polyposis coli; bone neoplasms; epidermal cyst; gardner syndrome; gardner's syndrome; osteoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adenomatous polyposis coli; bone neoplasms; epidermal cyst; gardner syndrome; gardner's syndrome; osteoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acute lung injury; adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acute lung injury; adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

down syndrome; ehlers-danlos syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease down syndrome; ehlers-danlos syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arthritis; felty's syndrome; large granular lymphocyte syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arthritis; felty's syndrome; large granular lymphocyte syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycystic ovarian syndrome; polycystic ovary syndrome; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

insulin resistance; metabolic syndrome x; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease insulin resistance; metabolic syndrome x; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

menarch; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious Gene Set

From GAD Gene-Disease Associations

genes associated with the disease menarch; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart-hand syndrome, holt-oram syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart-hand syndrome, holt-oram syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

gynecomastia; klinefelter syndrome; klinefelter's syndrome; oligospermia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease gynecomastia; klinefelter syndrome; klinefelter's syndrome; oligospermia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adult respiratory distress syndrome; community-acquired infections; pneumonia; respiratory distress syndrome, adult; septic shock; shock, septic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; community-acquired infections; pneumonia; respiratory distress syndrome, adult; septic shock; shock, septic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

aneurysm, dissecting; aortic aneurysm, thoracic; loeys-dietz syndrome; marfan syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease aneurysm, dissecting; aortic aneurysm, thoracic; loeys-dietz syndrome; marfan syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus; glucose intolerance; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus; glucose intolerance; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hirsutism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hirsutism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

haemolytic-uraemic syndrome; hematologic diseases; hemolytic-uremic syndrome; purpura, thrombocytopenic; thrombocytopenic purpura Gene Set

From GAD Gene-Disease Associations

genes associated with the disease haemolytic-uraemic syndrome; hematologic diseases; hemolytic-uremic syndrome; purpura, thrombocytopenic; thrombocytopenic purpura in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dwarfism, pituitary; pituitary dwarfism; turner syndrome; xo syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dwarfism, pituitary; pituitary dwarfism; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

digeorge syndrome/velocardiofacial syndrome complex-2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the digeorge syndrome/velocardiofacial syndrome complex-2 phenotype from the curated OMIM Gene-Disease Associations dataset.

ifap syndrome with or without bresheck syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the ifap syndrome with or without bresheck syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

Miller-Mckusick-Malvaux-Syndrome (3M Syndrome) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Miller-Mckusick-Malvaux-Syndrome (3M Syndrome) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Crouzon syndrome-acanthosis nigricans syndrome Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Crouzon syndrome-acanthosis nigricans syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Crouzon syndrome-acanthosis nigricans syndrome Gene Set

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

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

Noonan syndrome and Noonan-related syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Noonan syndrome and Noonan-related syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Crouzon syndrome-acanthosis nigricans syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Crouzon syndrome-acanthosis nigricans syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

X-linked cerebral-cerebellar-coloboma syndrome syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the X-linked cerebral-cerebellar-coloboma syndrome syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Non-Richardson's syndrome vs Richardson's syndrome in progressive supranuclear palsy Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Non-Richardson's syndrome vs Richardson's syndrome in progressive supranuclear palsy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Sarcoidosis (Lofgren's syndrome vs non-Lofgren's syndrome) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Sarcoidosis (Lofgren's syndrome vs non-Lofgren's syndrome) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

visceral fat deposits and the metabolic syndrome Gene Set

From Biocarta Pathways

proteins participating in the visceral fat deposits and the metabolic syndrome pathway from the Biocarta Pathways dataset.

Branchiootic syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Branchiootic syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bartter syndrome, type 3, with hypocalciuria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bartter syndrome, type 3, with hypocalciuria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Retinal dystrophy, juvenile cataracts, and short stature syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Retinal dystrophy, juvenile cataracts, and short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple synostoses syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple synostoses syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sjögren-Larsson syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sjögren-Larsson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hennekam lymphangiectasia-lymphedema syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hennekam lymphangiectasia-lymphedema syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.