| Name |
|---|
OPHLC GeneOmphalocele due to duplication of 1p31.3 |
PSHK2 GenePseudohyperkalemia, familial, 2, due to red cell leak |
SM2 GeneHepatic fibrosis susceptibility due to Schistosoma mansoni infection |
IS2 GeneScoliosis, idiopathic 2 |
IS1 GeneAdolescent idiopathic scoliosis |
IS5 Genescoliosis, idiopathic, susceptibility to, 5 |
IS4 GeneScoliosis, idiopathic, susceptibility to, 4 |
MCOPCT1 Genecataract, congenital, with microphthalmia |
CFTDX GeneMyopathy, congenital, with fiber-type disproportion, X-linked |
NPHS1 Genenephrosis 1, congenital, Finnish type (nephrin) This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009] |
CTRCT37 GeneCataract, congenital cerulean type, 5 |
CTRCT34 GeneCataract, autosomal recessive congenital 3 |
CTRCT35 Genecataract, congenital nuclear, autosomal recessive |
BSCL2 GeneBerardinelli-Seip congenital lipodystrophy 2 (seipin) This gene encodes the multi-pass transmembrane protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Jul 2024] |
HTC1 Genehypertrichosis 1 (universalis, congenital) |
HTC2 Genehypertrichosis 2 (generalized, congenital) |
RNANC GeneRetinal nonattachment, nonsyndromic congenital |
NHS GeneNance-Horan syndrome (congenital cataracts and dental anomalies) This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2014] |
MDC1B GeneMuscular dystrophy, congenital, 1B |
CDAN3 Genecongenital dyserythropoietic anemia, type III |
LCA5L GeneLeber congenital amaurosis 5-like Predicted to be involved in intraciliary transport. Predicted to be active in axoneme. [provided by Alliance of Genome Resources, Mar 2025] |
NDNC9 GeneNail disorder, nonsyndromic congenital, 9 |
NYS2 Genenystagmus 2, congenital autosomal dominant |
NYS3 Genenystagmus 3, congenital autosomal dominant |
NYS7 GeneNystagmus 7, congenital |
NYS4 Genenystagmus 4, congenital autosomal dominant |
NDIC GeneNail dysplasia, isolated congenital |
CTRCT27 GeneCataract, congenital, nuclear progressive |
PTOS2 GenePtosis, hereditary congenital 2 |
PTOS1 Geneptosis, congenital 1 (autosomal dominant) |
GLC3C Geneglaucoma 3, primary congenital, C |
SMAL Genespinal muscular atrophy, congenital nonprogressive, of lower limbs |
ANIC GeneAnosmia, isolated congenital |
CHDT3 GeneCongenital heart defects, multiple types, 3 |
MDCMP Genemuscular dystrophy, congenital, merosin-positive |
CHNG3 GeneHypothyroidism, congenital, nongoitrous, 3 |
LCA5 GeneLeber congenital amaurosis 5 This gene encodes a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Alternatively spliced transcript variants are described. [provided by RefSeq, Oct 2009] |
CCA1 Genecataract, congenital, cerulean type, 1 |
CCT Genecataract, congenital, total |
CCV Genecataract, congenital, Volkmann type |
MCOR Genemicrocoria, congenital |
DIH2 GeneHernia, congenital diaphragmatic 2 |
ARCI9 GeneIchthyosis, congenital, autosomal recessive 9 |
ARCI7 GeneIchthyosis, congenital, autosomal recessive 7 |
PAFC GenePreauricular fistulae, congenital |
Congenital Scoliosis Due To Bony Malformation Gene SetFrom 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. |
Capillary malformation without arteriovenous malformation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Capillary malformation without arteriovenous malformation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Capillary malformation-arteriovenous malformation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Capillary malformation-arteriovenous malformation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Capillary Malformation-Arteriovenous Malformation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Capillary Malformation-Arteriovenous Malformation from the curated CTD Gene-Disease Associations dataset. |
capillary malformation-arteriovenous malformation Gene SetFrom OMIM Gene-Disease Associations genes associated with the capillary malformation-arteriovenous malformation phenotype from the curated OMIM Gene-Disease Associations dataset. |
Capillary Malformation Without Arteriovenous Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Capillary Malformation Without Arteriovenous Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Capillary malformation-arteriovenous malformation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Capillary malformation-arteriovenous malformation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Capillary malformation-arteriovenous malformation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Capillary malformation-arteriovenous malformation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
progressive congenital scoliosis Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive congenital scoliosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Congenital Scoliosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Scoliosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Other Congenital Malformations Of Spine, Not Associated With Scoliosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Other Congenital Malformations Of Spine, Not Associated With Scoliosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Congenital Scoliosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Congenital Scoliosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
bony Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term bony in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
bony spicule pigmentary retinopathy Gene SetFrom HPO Gene-Disease Associations genes associated with the bony spicule pigmentary retinopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
bony paranasal bossing Gene SetFrom HPO Gene-Disease Associations genes associated with the bony paranasal bossing phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
thin bony cortex Gene SetFrom HPO Gene-Disease Associations genes associated with the thin bony cortex phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormal bony labyrinth Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal bony labyrinth phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
bony labyrinth Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue bony labyrinth in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
Thin Bony Cortex Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Thin Bony Cortex in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Bony Paranasal Bossing Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Bony Paranasal Bossing in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
abnormal bony labyrinth Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal bony labyrinth phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
bony syngnathia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the bony syngnathia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Bony labyrinth Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Bony labyrinth in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
arteriovenous malformations; congenital arteriovenous malformation; intracranial hemorrhages Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arteriovenous malformations; congenital arteriovenous malformation; intracranial hemorrhages in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arteriovenous malformations; congenital arteriovenous malformation; hemorrhage Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arteriovenous malformations; congenital arteriovenous malformation; hemorrhage in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
wilms' tumor and congenital male genitourinary malformation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease wilms' tumor and congenital male genitourinary malformation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Congenital heart malformation Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Congenital heart malformation phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
congenital malformation of the great arteries Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital malformation of the great arteries phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital malformation of the right heart Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital malformation of the right heart phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital malformation of the left heart Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital malformation of the left heart phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Congenital Arteriovenous Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Arteriovenous Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Malformation Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Malformation Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Pulmonary Arteriovenous Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Pulmonary Arteriovenous Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Malformation Of Corpus Callosum Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Malformation Of Corpus Callosum in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Malformation Of The Left Heart Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Malformation Of The Left Heart in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Other Specified Congenital Malformation Syndromes, Not Elsewhere Classified In Icd10Cm Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Other Specified Congenital Malformation Syndromes, Not Elsewhere Classified In Icd10Cm in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Malformation Of Cerebral Vessels Nos Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Malformation Of Cerebral Vessels Nos in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cystic Adenomatoid Malformation Of Lung, Congenital Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cystic Adenomatoid Malformation Of Lung, Congenital in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Other Congenital Malformation Syndromes With Other Skeletal Changes Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Other Congenital Malformation Syndromes With Other Skeletal Changes in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Malformation Of Cornea Nos Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Malformation Of Cornea Nos in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Malformation Of Cardiac Chambers And Connections, Unspecified Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Malformation Of Cardiac Chambers And Connections, Unspecified in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Lymphatic Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Lymphatic Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital heart malformation Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Congenital heart malformation phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR;THPH9 HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSUE PLASMINOGEN Gene SetFrom 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. |
Muscular dystrophy, congenital, due to ITGA7 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Muscular dystrophy, congenital, due to ITGA7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy due to partial LAMA2 deficiency Gene SetFrom 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. |
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Gene SetFrom 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. |
Congenital thrombotic disease, due to Protein C deficiency Gene SetFrom 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. |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency Gene SetFrom 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. |
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency Gene SetFrom 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. |
muscular dystrophy, congenital, due to partial lama2 deficiency Gene SetFrom 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. |
hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia Gene SetFrom 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. |
muscular dystrophy, congenital, due to itga7 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, congenital, due to itga7 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency Gene SetFrom 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. |
hypoaldosteronism, congenital, due to cmo i deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypoaldosteronism, congenital, due to cmo i deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency Gene SetFrom 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. |
hypoaldosteronism, congenital, due to cmo ii deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypoaldosteronism, congenital, due to cmo ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
Congenital Duodenal Obstruction Due To Malrotation Of Intestine Gene SetFrom 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. |
Congenital Thrombotic Disease, Due To Protein C Deficiency Gene SetFrom 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. |
Severe congenital encephalopathy due to MECP2 mutation Gene SetFrom 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. |
Congenital muscular dystrophy due to LMNA mutation Gene SetFrom 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. |
Congenital muscular dystrophy due to LMNA mutation Gene SetFrom 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. |
Congenital muscular dystrophy due to integrin alpha-7 deficiency Gene SetFrom 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. |
Severe congenital encephalopathy due to MECP2 mutation Gene SetFrom 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. |
Hereditary thrombophilia due to congenital protein C deficiency Gene SetFrom 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 SetFrom 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. |
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Gene SetFrom 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. |
Congenital lipoid adrenal hyperplasia due to STAR deficency Gene SetFrom 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. |
Congenital muscular dystrophy due to partial LAMA2 deficiency Gene SetFrom 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. |
Congenital muscular dystrophy due to LMNA mutation Gene SetFrom 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. |
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Gene SetFrom 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. |
Congenital muscular dystrophy due to integrin alpha-7 deficiency Gene SetFrom 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. |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency Gene SetFrom 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. |
Congenital brain dysgenesis due to glutamine synthetase deficiency Gene SetFrom 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. |
Obesity due to congenital leptin deficiency Gene SetFrom 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. |
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency Gene SetFrom 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. |
Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization Gene SetFrom 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. |
Hereditary thrombophilia due to congenital histidine-rich Gene SetFrom 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. |
Hereditary thrombophilia due to congenital protein S deficiency Gene SetFrom 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. |
Gaze palsy, familial horizontal, with progressive scoliosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gaze palsy, familial horizontal, with progressive scoliosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Macrocephaly, alopecia, cutis laxa, and scoliosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Macrocephaly, alopecia, cutis laxa, and scoliosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Gaze Palsy, Familial Horizontal, with Progressive Scoliosis from the curated CTD Gene-Disease Associations dataset. |
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 4 from the curated CTD Gene-Disease Associations dataset. |
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis from the curated CTD Gene-Disease Associations dataset. |
Scoliosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Scoliosis from the curated CTD Gene-Disease Associations dataset. |
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 1 from the curated CTD Gene-Disease Associations dataset. |
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 5 from the curated CTD Gene-Disease Associations dataset. |
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 2 from the curated CTD Gene-Disease Associations dataset. |
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 from the curated CTD Gene-Disease Associations dataset. |
alpha 1-antitrypsin deficiency; aortic stenosis, supravalvular; dislocations; scoliosis; williams syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alpha 1-antitrypsin deficiency; aortic stenosis, supravalvular; dislocations; scoliosis; williams syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fractures, bone; rett syndrome; scoliosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fractures, bone; rett syndrome; scoliosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
bone diseases, metabolic; scoliosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease bone diseases, metabolic; scoliosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
scoliosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease scoliosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ache, low back; low back pain; scoliosis; spinal diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ache, low back; low back pain; scoliosis; spinal diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiomyopathies; friedreich ataxia; scoliosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiomyopathies; friedreich ataxia; scoliosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
rett syndrome; scoliosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease rett syndrome; scoliosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
scoliosis Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term scoliosis in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Scoliosis Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Scoliosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
scoliosis Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the scoliosis phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
scoliosis Gene SetFrom HPO Gene-Disease Associations genes associated with the scoliosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
thoracolumbar scoliosis Gene SetFrom HPO Gene-Disease Associations genes associated with the thoracolumbar scoliosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
lumbar scoliosis Gene SetFrom HPO Gene-Disease Associations genes associated with the lumbar scoliosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
thoracic scoliosis Gene SetFrom HPO Gene-Disease Associations genes associated with the thoracic scoliosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Scoliosis Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Scoliosis phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
scoliosis Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the scoliosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
macrocephaly, alopecia, cutis laxa, and scoliosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the macrocephaly, alopecia, cutis laxa, and scoliosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
{scoliosis, idiopathic, susceptibility to, 4} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {scoliosis, idiopathic, susceptibility to, 4} phenotype from the curated OMIM Gene-Disease Associations dataset. |
scoliosis, idiopathic 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the scoliosis, idiopathic 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
scoliosis, idiopathic 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the scoliosis, idiopathic 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
gaze palsy, horizontal, with progressive scoliosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the gaze palsy, horizontal, with progressive scoliosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
{scoliosis, idiopathic 3} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {scoliosis, idiopathic 3} phenotype from the curated OMIM Gene-Disease Associations dataset. |
Adolescent Idiopathic Scoliosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Adolescent Idiopathic Scoliosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Scoliosis, Isolated, Susceptibility To, 3 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Scoliosis, Isolated, Susceptibility To, 3 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Scoliosis, Unspecified Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Scoliosis, Unspecified in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Thoracolumbar Scoliosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Thoracolumbar Scoliosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neuromuscular Scoliosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neuromuscular Scoliosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Idiopathic Scoliosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Idiopathic Scoliosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Degenerative Scoliosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Degenerative Scoliosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Juvenile And Adolescent Idiopathic Scoliosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Juvenile And Adolescent Idiopathic Scoliosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Lumbar Scoliosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lumbar Scoliosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Kyphosis/Scoliosis (In Some Patients) Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Kyphosis/Scoliosis (In Some Patients) in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Scoliosis, Idiopathic, Susceptibility To, 1 (Finding) Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Scoliosis, Idiopathic, Susceptibility To, 1 (Finding) in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Thoracic Scoliosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Thoracic Scoliosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Hemivertebra Fusion Or Failure Of Segmentation With Scoliosis Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Hemivertebra Fusion Or Failure Of Segmentation With Scoliosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
scoliosis Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the scoliosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
scoliosis Gene SetFrom IMPC Knockout Mouse Phenotypes gene knockouts causing the scoliosis phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset. |
Scoliosis Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Scoliosis in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. |
Idiopathic scoliosis Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Idiopathic scoliosis in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. |
Scoliosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Scoliosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Idiopathic scoliosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Idiopathic scoliosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
camptodactyly-tall stature-scoliosis-hearing loss syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease camptodactyly-tall stature-scoliosis-hearing loss syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Seizures-scoliosis-macrocephaly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Seizures-scoliosis-macrocephaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Thoracolumbar scoliosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Thoracolumbar scoliosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Camptodactyly-tall stature-scoliosis-hearing loss syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Camptodactyly-tall stature-scoliosis-hearing loss syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Scoliosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Scoliosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Tall stature-scoliosis-macrodactyly of the great toes syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Tall stature-scoliosis-macrodactyly of the great toes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Thoracic scoliosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Thoracic scoliosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Idiopathic scoliosis Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Idiopathic scoliosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Adolescent idiopathic scoliosis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Adolescent idiopathic scoliosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Scoliosis Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Scoliosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Adolescent idiopathic scoliosis (severe) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Adolescent idiopathic scoliosis (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
congenital heart defects; heart defects, congenital; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; heart defects, congenital; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
atrial septal defects; cardiomyopathy, dilated; congenital heart defects; dcm - dilated cardiomyopathy; heart defects, congenital; heart septal defects, atrial Gene SetFrom GAD Gene-Disease Associations genes associated with the disease atrial septal defects; cardiomyopathy, dilated; congenital heart defects; dcm - dilated cardiomyopathy; heart defects, congenital; heart septal defects, atrial in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; folic acid deficiency; heart defects, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; folic acid deficiency; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adrenal hyperplasia, congenital; congenital adrenal hyperplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adrenal hyperplasia, congenital; congenital adrenal hyperplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; heart defects, congenital; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; heart defects, congenital; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
birth weight; congenital abnormalities; heart defects, congenital; postoperative complications; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease birth weight; congenital abnormalities; heart defects, congenital; postoperative complications; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; coronary disease; coronary heart disease; heart defects, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; coronary disease; coronary heart disease; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cleft lip; cleft palate; congenital heart defects; heart defects, congenital; hyperhomocysteinemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cleft lip; cleft palate; congenital heart defects; heart defects, congenital; hyperhomocysteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adrenal hyperplasia, congenital; cardiovascular diseases; congenital adrenal hyperplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adrenal hyperplasia, congenital; cardiovascular diseases; congenital adrenal hyperplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; heart defects, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; heart defects, congenital; ventricular outflow obstruction Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; heart defects, congenital; ventricular outflow obstruction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; heart defects, congenital; nervous system diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; heart defects, congenital; nervous system diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
atrial septal defects; congenital heart defects; heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular; ventricular septal defects Gene SetFrom GAD Gene-Disease Associations genes associated with the disease atrial septal defects; congenital heart defects; heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular; ventricular septal defects 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 SetFrom 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. |
acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom 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. |
body weight; congenital heart defects; growth disorders; heart defects, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body weight; congenital heart defects; growth disorders; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; down syndrome; heart defects, congenital; heart septal defects Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; down syndrome; heart defects, congenital; heart septal defects 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 SetFrom 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. |
abnormalities, multiple; coloboma; congenital heart defects; disease models, animal; facial paralysis; heart defects, congenital; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; coloboma; congenital heart defects; disease models, animal; facial paralysis; heart defects, congenital; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; heart defects, congenital; heart septal defects; tetralogy of fallot Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; heart defects, congenital; heart septal defects; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aortic coarctation; aortic valve stenosis; congenital heart defects; discrete subaortic stenosis; heart defects, congenital; hypoplastic left heart syndrome; pulmonary valve stenosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aortic coarctation; aortic valve stenosis; congenital heart defects; discrete subaortic stenosis; heart defects, congenital; hypoplastic left heart syndrome; pulmonary valve stenosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adrenal hyperplasia, congenital; congenital adrenal hyperplasia; virilism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adrenal hyperplasia, congenital; congenital adrenal hyperplasia; virilism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Heart Defects, Congenital, And Other Congenital Anomalies Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Heart Defects, Congenital, And Other Congenital Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dandy-Walker like malformation with atrioventricular septal defect Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dandy-Walker like malformation with atrioventricular septal defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Malformation of the heart Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Malformation of the heart phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Split-hand/foot malformation 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Split-hand/foot malformation 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Split-hand/foot malformation 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Split-hand/foot malformation 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Split-hand/foot malformation 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Split-hand/foot malformation 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Split-hand/foot malformation 1 with sensorineural hearing loss Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Split-hand/foot malformation 1 with sensorineural hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly-capillary malformation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly-capillary malformation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Split-Hand/Foot Malformation 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Split-Hand/Foot Malformation 6 from the curated CTD Gene-Disease Associations dataset. |
Arnold-Chiari Malformation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Arnold-Chiari Malformation from the curated CTD Gene-Disease Associations dataset. |
Split-Hand/Foot Malformation With Long Bone Deficiency 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Split-Hand/Foot Malformation With Long Bone Deficiency 2 from the curated CTD Gene-Disease Associations dataset. |
Split-Hand/Foot Malformation With Long Bone Deficiency 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Split-Hand/Foot Malformation With Long Bone Deficiency 3 from the curated CTD Gene-Disease Associations dataset. |
Split-Hand/Foot Malformation 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Split-Hand/Foot Malformation 4 from the curated CTD Gene-Disease Associations dataset. |
Split-Hand/Foot Malformation 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Split-Hand/Foot Malformation 5 from the curated CTD Gene-Disease Associations dataset. |
SPLIT-HAND/FOOT MALFORMATION 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SPLIT-HAND/FOOT MALFORMATION 2 from the curated CTD Gene-Disease Associations dataset. |
Split-hand/foot malformation with long bone deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Split-hand/foot malformation with long bone deficiency from the curated CTD Gene-Disease Associations dataset. |
arteriovenous malformation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease arteriovenous malformation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
chiari type i malformation and syringomyelia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chiari type i malformation and syringomyelia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
intracranial arteriovenous malformation; intracranial arteriovenous malformations Gene SetFrom GAD Gene-Disease Associations genes associated with the disease intracranial arteriovenous malformation; intracranial arteriovenous malformations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
inflammation; intracranial arteriovenous malformation; intracranial arteriovenous malformations; intracranial hemorrhages Gene SetFrom GAD Gene-Disease Associations genes associated with the disease inflammation; intracranial arteriovenous malformation; intracranial arteriovenous malformations; intracranial hemorrhages in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
optic nerve malformation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease optic nerve malformation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
malformation Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term malformation in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
thyroid malformation Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease thyroid malformation in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
malformation of the heart and great vessels Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the malformation of the heart and great vessels phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
malformation of the heart and great vessels Gene SetFrom HPO Gene-Disease Associations genes associated with the malformation of the heart and great vessels phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
external ear malformation Gene SetFrom HPO Gene-Disease Associations genes associated with the external ear malformation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
gastrointestinal arteriovenous malformation Gene SetFrom HPO Gene-Disease Associations genes associated with the gastrointestinal arteriovenous malformation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
hepatic arteriovenous malformation Gene SetFrom HPO Gene-Disease Associations genes associated with the hepatic arteriovenous malformation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
cerebral arteriovenous malformation Gene SetFrom HPO Gene-Disease Associations genes associated with the cerebral arteriovenous malformation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
arnold-chiari malformation Gene SetFrom HPO Gene-Disease Associations genes associated with the arnold-chiari malformation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
cochlear malformation Gene SetFrom HPO Gene-Disease Associations genes associated with the cochlear malformation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
retinal vascular malformation Gene SetFrom HPO Gene-Disease Associations genes associated with the retinal vascular malformation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
arnold-chiari type i malformation Gene SetFrom HPO Gene-Disease Associations genes associated with the arnold-chiari type i malformation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
pulmonary arteriovenous malformation Gene SetFrom HPO Gene-Disease Associations genes associated with the pulmonary arteriovenous malformation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
retinal malformation Gene SetFrom HPO Gene-Disease Associations genes associated with the retinal malformation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
malformation of the hepatic ductal plate Gene SetFrom HPO Gene-Disease Associations genes associated with the malformation of the hepatic ductal plate phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
venous malformation Gene SetFrom HPO Gene-Disease Associations genes associated with the venous malformation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
dandy-walker malformation Gene SetFrom HPO Gene-Disease Associations genes associated with the dandy-walker malformation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
spinal arteriovenous malformation Gene SetFrom HPO Gene-Disease Associations genes associated with the spinal arteriovenous malformation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
arteriovenous malformation Gene SetFrom HPO Gene-Disease Associations genes associated with the arteriovenous malformation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
cerebellar malformation Gene SetFrom HPO Gene-Disease Associations genes associated with the cerebellar malformation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Arnold-Chiari Malformation Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Arnold-Chiari Malformation phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
cerebral arteriovenous malformation Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the cerebral arteriovenous malformation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
pulmonary arteriovenous malformation Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the pulmonary arteriovenous malformation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
arteriovenous malformation Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the arteriovenous malformation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
microcephaly-capillary malformation syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly-capillary malformation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
split hand/foot malformation 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the split hand/foot malformation 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
split hand/foot malformation 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the split hand/foot malformation 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?split-hand/foot malformation 1 with sensorineural hearing loss Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?split-hand/foot malformation 1 with sensorineural hearing loss phenotype from the curated OMIM Gene-Disease Associations dataset. |
split-hand/foot malformation 3, gene duplication syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the split-hand/foot malformation 3, gene duplication syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
split-hand/foot malformation with long bone deficiency 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the split-hand/foot malformation with long bone deficiency 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
split-hand/foot malformation with long bone deficiency 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the split-hand/foot malformation with long bone deficiency 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
split-hand/foot malformation with long bone deficiency 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the split-hand/foot malformation with long bone deficiency 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
megalencephaly-capillary malformation-polymicrogyria syndrome, somatic Gene SetFrom OMIM Gene-Disease Associations genes associated with the megalencephaly-capillary malformation-polymicrogyria syndrome, somatic phenotype from the curated OMIM Gene-Disease Associations dataset. |
split-hand/foot malformation 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the split-hand/foot malformation 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
split-hand/foot malformation 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the split-hand/foot malformation 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
split-hand/foot malformation 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the split-hand/foot malformation 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
Cerebellar Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cerebellar Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Placental Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Placental Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Venous Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Venous Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Arteriovenous Malformation Of Liver Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Arteriovenous Malformation Of Liver in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Capillary Malformation-Arteriovenous Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Capillary Malformation-Arteriovenous in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Gastrointestinal Arteriovenous Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Gastrointestinal Arteriovenous Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Intracranial Arteriovenous Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Intracranial Arteriovenous Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Pulmonary Arteriovenous Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pulmonary Arteriovenous Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Spinal Arteriovenous Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Spinal Arteriovenous Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Rieger Eye Malformation Sequence Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Rieger Eye Malformation Sequence in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Skeletal Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Skeletal Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Capillary Malformation (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Capillary Malformation (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Arnold Chiari Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Arnold Chiari Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Gastrointestinal Vascular Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Gastrointestinal Vascular Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Split-Hand/Foot Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Split-Hand/Foot Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dandy-Walker Malformation With Mental Retardation, Basal Ganglia Disease, And Seizures Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dandy-Walker Malformation With Mental Retardation, Basal Ganglia Disease, And Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Chiari Malformation Type Ii Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Chiari Malformation Type Ii in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Parachute Malformation Of Mitral Valve Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Parachute Malformation Of Mitral Valve in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Split-Hand-Foot Malformation With Long Bone Deficiency 1 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Split-Hand-Foot Malformation With Long Bone Deficiency 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Split-Hand-Foot Malformation With Sensorineural Hearing Loss Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Split-Hand-Foot Malformation With Sensorineural Hearing Loss in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Familial Cerebral Cavernous Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Familial Cerebral Cavernous Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Biliary Atresia With Splenic Malformation Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Biliary Atresia With Splenic Malformation Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Corpus Callosum Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Corpus Callosum Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Vascular Malformation, Primary Intraosseous Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Vascular Malformation, Primary Intraosseous in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cutaneous Capillary Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cutaneous Capillary Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Lymphatic Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lymphatic Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Pulmonary Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pulmonary Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cutaneous Vascular Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cutaneous Vascular Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Intracranial Arteriovenous Malformation, Ruptured Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Intracranial Arteriovenous Malformation, Ruptured in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Capillary-Venous Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Capillary-Venous Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Split-Foot Malformation With Mesoaxial Polydactyly Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Split-Foot Malformation With Mesoaxial Polydactyly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cardiac Malformation, Cleft Lip-Palate, Microcephaly And Digital Anomalies Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cardiac Malformation, Cleft Lip-Palate, Microcephaly And Digital Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Low Anorectal Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Low Anorectal Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ductal Plate Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ductal Plate Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Retinal Arteriovenous Malformation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Retinal Arteriovenous Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Segmental Outgrowth, Lipomatosis, Arteriovenous Malformation, Epidermal Nevus Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Segmental Outgrowth, Lipomatosis, Arteriovenous Malformation, Epidermal Nevus Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Heart And Brain Malformation Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Heart And Brain Malformation Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cochlear Malformation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Cochlear Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Arterial Malformation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Arterial Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Inner Ear Malformation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Inner Ear Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Malformation Of The Hepatic Ductal Plate Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Malformation Of The Hepatic Ductal Plate in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Retinal Vascular Malformation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Retinal Vascular Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Laryngeal Cartilage Malformation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Laryngeal Cartilage Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Dieulafoy'S Vascular Malformation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Dieulafoy'S Vascular Malformation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
arteriovenous malformation Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the arteriovenous malformation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
pulmonary arteriovenous malformation Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the pulmonary arteriovenous malformation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
cerebral arteriovenous malformation Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the cerebral arteriovenous malformation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Ebstein's malformation of tricuspid valve Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the Ebstein's malformation of tricuspid valve phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Cerebral cavernous malformation Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Cerebral cavernous malformation from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Cerebral cavernous malformation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Cerebral cavernous malformation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Arteriovenous malformation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Arteriovenous malformation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Split hand-foot malformation 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Split hand-foot malformation 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Split hand-foot malformation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Split hand-foot malformation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Lissencephaly 9 with complex brainstem malformation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Lissencephaly 9 with complex brainstem malformation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Split hand-foot malformation 1 with sensorineural hearing loss Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Split hand-foot malformation 1 with sensorineural hearing loss in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Thyroid malformation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Thyroid malformation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Split hand-foot malformation 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Split hand-foot malformation 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Split hand-foot malformation 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Split hand-foot malformation 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Split hand-foot malformation 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Split hand-foot malformation 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
CSF1R-related brain malformation and osteopetrosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease CSF1R-related brain malformation and osteopetrosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Split hand-foot malformation 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Split hand-foot malformation 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Ear malformation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Ear malformation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Cerebral cavernous malformation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cerebral cavernous malformation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Split hand-foot malformation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Split hand-foot malformation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Glomuvenous malformation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Glomuvenous malformation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Cerebral arteriovenous malformation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cerebral arteriovenous malformation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Vascular malformation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Vascular malformation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Megalencephaly-capillary malformation-polymicrogyria syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Megalencephaly-capillary malformation-polymicrogyria syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Rare venous malformation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Rare venous malformation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Rare combined vascular malformation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Rare combined vascular malformation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Capillary malformation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Capillary malformation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Microcephaly-capillary malformation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Microcephaly-capillary malformation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Lymphatic malformation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lymphatic malformation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Malformation of the heart and great vessels Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Malformation of the heart and great vessels phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Cardiac malformation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cardiac malformation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Extracranial arteriovenous malformation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Extracranial arteriovenous malformation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Brain malformation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Brain malformation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Venous malformation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Venous malformation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Split-foot malformation-mesoaxial polydactyly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Split-foot malformation-mesoaxial polydactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Primary intraosseous venous malformation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Primary intraosseous venous malformation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Heart and brain malformation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Heart and brain malformation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Genitourinary and/or brain malformation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Genitourinary and/or brain malformation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Non-syndromic renal or urinary tract malformation Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Non-syndromic renal or urinary tract malformation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Anorectal malformation Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Anorectal malformation phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Carbonic anhydrase va deficiency, hyperammonemia due to Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Ehlers-Danlos-like syndrome due to tenascin-X deficiency Gene SetFrom 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. |
Gaucher disease, atypical, due to saposin C deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hemolytic anemia due to hexokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leigh syndrome due to mitochondrial complex I deficiency Gene SetFrom 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. |
Homocysteinemia due to MTHFR deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia due to thrombomodulin defect phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency due to defect in cd3-zeta Gene SetFrom 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 SetFrom 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 SetFrom 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. |
Leigh syndrome due to mitochondrial complex II deficiency Gene SetFrom 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. |
Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor Gene SetFrom 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 SetFrom 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. |
Megaloblastic anemia due to dihydrofolate reductase deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Thrombophilia, X-Linked, Due To Factor Ix Defect Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Severe combined immunodeficiency due to adenosine deaminase deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Metachromatic Leukodystrophy due to Saposin B Deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
hemorrhagic diathesis due to 'antithrombin' pittsburgh Gene SetFrom 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 SetFrom 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 SetFrom OMIM Gene-Disease Associations genes associated with the hemolytic anemia due to glutathione peroxidase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombophilia due to protein c deficiency, autosomal recessive Gene SetFrom 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 SetFrom OMIM Gene-Disease Associations genes associated with the lacticacidemia due to pdx1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency Gene SetFrom 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. |
omphalocele due to duplication of 1p31.3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the omphalocele due to duplication of 1p31.3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
anemia, hemolytic, due to umph1 deficiency Gene SetFrom 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 SetFrom 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 SetFrom OMIM Gene-Disease Associations genes associated with the severe combined immunodeficiency due to ada deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
leigh syndrome due to mitochondrial complex i deficiency Gene SetFrom 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. |
thrombophilia due to protein c deficiency, autosomal dominant Gene SetFrom 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. |
cirrhosis due to liver phosphorylase kinase deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
leigh syndrome, due to cox deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the leigh syndrome, due to cox deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
macrocytic anemia, refractory, due to 5q deletion, somatic Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom OMIM Gene-Disease Associations genes associated with the hydrocephalus due to aqueductal stenosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
bare lymphocyte syndrome, type i, due to tap2 deficiency Gene SetFrom 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. |
thrombophilia due to elevated hrg Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom OMIM Gene-Disease Associations genes associated with the aica-ribosiduria due to atic deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
leigh syndrome due to mitochondrial cox4 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the leigh syndrome due to mitochondrial cox4 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
methylmalonic aciduria due to transcobalamin receptor defect Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
leigh syndrome due to cytochrome c oxidase deficiency Gene SetFrom 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. |
pyogenic bacterial infections, recurrent, due to myd88 deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
leigh syndrome due to mitochondrial complex 1 deficiency Gene SetFrom 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. |
hemolytic anemia due to triosephosphate isomerase deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom OMIM Gene-Disease Associations genes associated with the emphysema-cirrhosis, due to aat 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 SetFrom 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 SetFrom 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 SetFrom 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 Setproteins 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Differentiation Syndrome Due To And Following Chemotherapy Co-Occurrent With Acute Promyelocytic Leukemia Gene SetFrom 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. |
Primary Adenocarcinoma Of Lower Third Of Esophagus Due To Barrett Esophagus Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Leigh Syndrome Due To Mitochondrial Complex I Deficiency Gene SetFrom 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. |
Disease Due To Acanthocephala Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Primary Immunodeficiency Syndrome Due To P14 Deficiency Gene SetFrom 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. |
Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Hypercoagulability Syndrome Due To Glycosylphosphatidylinositol Deficiency Gene SetFrom 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. |
Acute Bronchitis Due To Respiratory Syncytial Virus Gene SetFrom 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 SetFrom 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. |
Gaucher Disease, Atypical, Due To Saposin C Deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Perinatal Jaundice Due To Inspissated Bile Syndrome Gene SetFrom 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. |
Zinc Deficiency, Neonatal, Due To Low Breast Milk Zinc Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins 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 Setproteins participating in the Loss of function of TP53 in cancer due to loss of tetramerization ability pathway from the Reactome Pathways 2024 dataset. |
Male infertility due to globozoospermia Gene SetFrom 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. |
Male infertility due to globozoospermia Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Encephalopathy due to defective mitochondrial and peroxisomal fission 1 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Gene SetFrom 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. |
Thrombophilia due to HRG deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins Gene SetFrom 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 SetFrom 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. |
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Gene SetFrom 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. |
Severe combined immunodeficiency due to DCLRE1C deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Alagille syndrome due to a JAG1 point mutation Gene SetFrom 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. |
Short stature due to growth hormone secretagogue receptor deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Ehlers-Danlos syndrome due to tenascin-X deficiency Gene SetFrom 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. |
Short stature due to partial GHR deficiency Gene SetFrom 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. |
T-B+ severe combined immunodeficiency due to JAK3 deficiency Gene SetFrom 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. |
Rubinstein-Taybi syndrome due to CREBBP mutations Gene SetFrom 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. |
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Leigh syndrome due to mitochondrial complex IV deficiency Gene SetFrom 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. |
Dopa-responsive dystonia due to sepiapterin reductase deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes Gene SetFrom 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. |
Obesity due to melanocortin 4 receptor deficiency Gene SetFrom 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. |
Primary familial polycythemia due to EPO receptor mutation Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency Gene SetFrom 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. |
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome Gene SetFrom 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. |
Epidermolysis bullosa simplex due to plakophilin deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome Gene SetFrom 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. |
Combined immunodeficiency due to DOCK8 deficiency Gene SetFrom 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. |
Limb-girdle muscular dystrophy due to POMK deficiency Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Vasculitis due to ADA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency Gene SetFrom 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. |
Glycogen storage disease due to muscle and heart glycogen synthase deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Alagille syndrome due to a NOTCH2 point mutation Gene SetFrom 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. |
Methylmalonic acidemia due to transcobalamin receptor defect Gene SetFrom 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 SetFrom 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 SetFrom 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. |
Neurofibromatosis due to NF1 mutation or intragenic deletion Gene SetFrom 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 SetFrom 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. |
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency Gene SetFrom 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. |
Hyperinsulinism due to INSR deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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. |
DeSanto-Shinawi syndrome due to WAC point mutation Gene SetFrom 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. |
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency Gene SetFrom 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 SetFrom 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. |
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Beckwith-Wiedemann syndrome due to CDKN1C mutation Gene SetFrom 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. |
Myopathy due to calsequestrin and SERCA1 protein overload Gene SetFrom 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. |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation Gene SetFrom 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. |
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Combined immunodeficiency due to MALT1 deficiency Gene SetFrom 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. |
SIN3A-related intellectual disability syndrome due to a point mutation Gene SetFrom 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. |
Severe combined immunodeficiency due to LCK deficiency Gene SetFrom 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 SetFrom 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. |
Immunodeficiency due to a late component of complement deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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. |
Kleefstra syndrome due to a point mutation Gene SetFrom 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. |
Hyperphenylalaninemia due to DNAJC12 deficiency Gene SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Pancytopenia due to IKZF1 mutations phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hao-Fountain syndrome due to USP7 mutation Gene SetFrom 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. |
Progressive retinal dystrophy due to retinol transport defect Gene SetFrom 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. |
Primary immunodeficiency syndrome due to p14 deficiency Gene SetFrom 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. |
Severe combined immunodeficiency due to LAT deficiency Gene SetFrom 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 SetFrom 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. |
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency Gene SetFrom 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. |
X-linked acrogigantism due to Xq26 microduplication Gene SetFrom 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 SetFrom 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 SetFrom 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. |
Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital myotonia, autosomal dominant form Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital myotonia, autosomal dominant form phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital adrenal hyperplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital adrenal hyperplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital human immunodeficiency virus Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital human immunodeficiency virus phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Diarrhea 5, with tufting enteropathy, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Diarrhea 5, with tufting enteropathy, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Vertical talus, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Vertical talus, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital generalized lipodystrophy type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital generalized lipodystrophy type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glycogen storage disease IV, congenital neuromuscular Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glycogen storage disease IV, congenital neuromuscular phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Facial paresis, hereditary congenital, 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Facial paresis, hereditary congenital, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital glucose-galactose malabsorption Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital glucose-galactose malabsorption phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital sensory neuropathy with selective loss of small myelinated fibers Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital sensory neuropathy with selective loss of small myelinated fibers phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, with pre- and postsynaptic defects Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, with pre- and postsynaptic defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, actin, congenital, with cores Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, actin, congenital, with cores phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aphakia, congenital primary Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aphakia, congenital primary phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lipodystrophy, congenital generalized, type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lipodystrophy, congenital generalized, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital contractural arachnodactyly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital contractural arachnodactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 11 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital absence of salivary gland Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital absence of salivary gland phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Merosin deficient congenital muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Merosin deficient congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nystagmus 6, congenital, X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nystagmus 6, congenital, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital stationary night blindness, autosomal dominant 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, autosomal dominant 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Afibrinogenemia, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Afibrinogenemia, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, congenital heart defects, and posterior embryotoxon Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, congenital heart defects, and posterior embryotoxon phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Walker-Warburg congenital muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Walker-Warburg congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fibrosis of extraocular muscles, congenital, 3b Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fibrosis of extraocular muscles, congenital, 3b phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital amegakaryocytic thrombocytopenia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital amegakaryocytic thrombocytopenia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, fast-channel Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, fast-channel phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cataract, autosomal recessive congenital 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cataract, autosomal recessive congenital 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Diarrhea 3, secretory sodium, congenital, syndromic Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Diarrhea 3, secretory sodium, congenital, syndromic phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 3, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 3, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital dyserythropoietic anemia, type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital dyserythropoietic anemia, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital adrenal hypoplasia, X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital adrenal hypoplasia, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lethal congenital contracture syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lethal congenital contracture syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital secretory diarrhea, chloride type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital secretory diarrhea, chloride type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypomyelination and Congenital Cataract Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypomyelination and Congenital Cataract phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fibrosis of extraocular muscles, congenital, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fibrosis of extraocular muscles, congenital, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fibrosis of extraocular muscles, congenital, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fibrosis of extraocular muscles, congenital, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Testicular anomalies with or without congenital heart disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Testicular anomalies with or without congenital heart disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
LIPOPROTEIN(a) DEFICIENCY, CONGENITAL Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the LIPOPROTEIN(a) DEFICIENCY, CONGENITAL phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital short bowel syndrome, X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital short bowel syndrome, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital heart disease, multiple types, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital heart disease, multiple types, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, slow-channel congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, slow-channel congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Indifference to pain, congenital, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Indifference to pain, congenital, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital stationary night blindness, autosomal dominant 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, autosomal dominant 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lethal congenital contractural syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lethal congenital contractural syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital heart defects, multiple types, 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital heart defects, multiple types, 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital erythropoietic porphyria Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital erythropoietic porphyria phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
congenital neutropenia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the congenital neutropenia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypothyroidism, congenital, nongoitrous, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypothyroidism, congenital, nongoitrous, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypothyroidism, congenital, nongoitrous, 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypothyroidism, congenital, nongoitrous, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypothyroidism, congenital, nongoitrous, 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypothyroidism, congenital, nongoitrous, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1s Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1s phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1L Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1L phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, actin, congenital, with excess of thin myofilaments Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, actin, congenital, with excess of thin myofilaments phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple congenital anomalies-hypotonia-seizures syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rett syndrome, congenital variant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rett syndrome, congenital variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive congenital ichthyosis 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Eichsfeld type congenital muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Eichsfeld type congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 2B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 2B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 2C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 2C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 2J Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 2J phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 2L Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 2L phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 2k Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 2k phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, congenital, with excess of muscle spindles Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, congenital, with excess of muscle spindles phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital lactase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital lactase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital myotonia, autosomal recessive form Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital myotonia, autosomal recessive form phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 6, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 6, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1Q Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1Q phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1P Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1P phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1H Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1H phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, with tubular aggregates 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, with tubular aggregates 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1N Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1N phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Finnish congenital nephrotic syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Finnish congenital nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bile acid synthesis defect, congenital, 1 Gene SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bile acid synthesis defect, congenital, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1F Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1F phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1v Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1v phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cataract, congenital nuclear, autosomal recessive 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cataract, congenital nuclear, autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cataract, congenital nuclear, autosomal recessive 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cataract, congenital nuclear, autosomal recessive 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spondyloepiphyseal dysplasia with congenital joint dislocations Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spondyloepiphyseal dysplasia with congenital joint dislocations phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Adult i Blood Group with or without Congenital Cataract Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Adult i Blood Group with or without Congenital Cataract phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, congenital, compton-north Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, congenital, compton-north phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
T-cell immunodeficiency, congenital alopecia and nail dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the T-cell immunodeficiency, congenital alopecia and nail dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital cystic disease of liver Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital cystic disease of liver phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pancreatic agenesis and congenital heart disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pancreatic agenesis and congenital heart disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type Ix Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type Ix phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital order of glycosylation type 1r Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital order of glycosylation type 1r phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ullrich congenital muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ullrich congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital dyserythropoietic anemia, type II Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital dyserythropoietic anemia, type II phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neuropathy, congenital hypomyelinating, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neuropathy, congenital hypomyelinating, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital stationary night blindness, type 2B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, type 2B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital stationary night blindness, type 2A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital central hypoventilation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital central hypoventilation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital ocular coloboma Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital ocular coloboma phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1K Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1K phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1J Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1J phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1O Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1O phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1E Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1E phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1D Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1D phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1G Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1G phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1y Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1y phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Digital clubbing, isolated congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Digital clubbing, isolated congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1u Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1u phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1t Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1t phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Anti-plasmin deficiency, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Anti-plasmin deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Prothrombin deficiency, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Prothrombin deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 2, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital defect of folate absorption Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital defect of folate absorption phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 4, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 4, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lethal congenital contracture syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lethal congenital contracture syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital aniridia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital aniridia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital long QT syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital long QT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital hyperammonemia, type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital hyperammonemia, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple congenital exostosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple congenital exostosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive congenital ichthyosis 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive congenital ichthyosis 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive congenital ichthyosis 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive congenital ichthyosis 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive congenital ichthyosis 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glutamine deficiency, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glutamine deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple congenital anomalies-hypotonia-seizures syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple congenital anomalies-hypotonia-seizures syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital microvillous atrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital microvillous atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 15 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 17 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Partial congenital absence of teeth Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Partial congenital absence of teeth phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cataract, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cataract, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital stationary night blindness, type 1C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, type 1C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital stationary night blindness, type 1B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital stationary night blindness, type 1A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, type 1A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital stationary night blindness, type 1F Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, type 1F phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital stationary night blindness, type 1E Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, type 1E phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive congenital ichthyosis 4A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 4A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive congenital ichthyosis 4B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 4B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital myasthenic syndrome, acetazolamide-responsive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital myasthenic syndrome, acetazolamide-responsive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glaucoma, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glaucoma, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital Cataracts, Facial Dysmorphism, and Neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital Cataracts, Facial Dysmorphism, and Neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular hypertrophy-cerebral syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular hypertrophy-cerebral syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital Stromal Corneal Dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital Stromal Corneal Dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital myopathy with fiber type disproportion Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital myopathy with fiber type disproportion phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital Hyperinsulinism Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Hyperinsulinism from the curated CTD Gene-Disease Associations dataset. |
Cataract congenital Volkmann type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cataract congenital Volkmann type from the curated CTD Gene-Disease Associations dataset. |
Congenital Hypothyroidism Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Hypothyroidism from the curated CTD Gene-Disease Associations dataset. |
Congenital bilateral aplasia of vas deferens Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital bilateral aplasia of vas deferens from the curated CTD Gene-Disease Associations dataset. |
Congenital Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Anemia, Hemolytic, Congenital Nonspherocytic Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anemia, Hemolytic, Congenital Nonspherocytic from the curated CTD Gene-Disease Associations dataset. |
Night Blindness, Congenital Stationary, Autosomal Dominant 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Night Blindness, Congenital Stationary, Autosomal Dominant 3 from the curated CTD Gene-Disease Associations dataset. |
Hypothyroidism, Congenital, Nongoitrous, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypothyroidism, Congenital, Nongoitrous, 4 from the curated CTD Gene-Disease Associations dataset. |
Leber Congenital Amaurosis 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leber Congenital Amaurosis 4 from the curated CTD Gene-Disease Associations dataset. |
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia from the curated CTD Gene-Disease Associations dataset. |
Congenital idiopathic intestinal pseudoobstruction Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital idiopathic intestinal pseudoobstruction from the curated CTD Gene-Disease Associations dataset. |
Vertical talus, congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Vertical talus, congenital from the curated CTD Gene-Disease Associations dataset. |
Nystagmus 1, congenital, X- linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nystagmus 1, congenital, X- linked from the curated CTD Gene-Disease Associations dataset. |
Facial paresis, hereditary, congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Facial paresis, hereditary, congenital from the curated CTD Gene-Disease Associations dataset. |
Congenital anosmia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital anosmia from the curated CTD Gene-Disease Associations dataset. |
Hypothyroidism, Congenital, Nongoitrous, 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypothyroidism, Congenital, Nongoitrous, 5 from the curated CTD Gene-Disease Associations dataset. |
Hyperferritinemia, hereditary, with congenital cataracts Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hyperferritinemia, hereditary, with congenital cataracts from the curated CTD Gene-Disease Associations dataset. |