| Name |
|---|
OPEM Geneophthalmoplegia, external, with myopia |
TST1 GeneTuberculin skin test reactivity, absence of |
ECA1 Geneepilepsy, childhood absence 1 |
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 Absence Of External Ear Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Absence Of External Ear in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Absence, Atresia And Stricture Of Auditory Canal (External) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Absence, Atresia And Stricture Of Auditory Canal (External) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
chronic progressive external ophthalmoplegia; ophthalmoplegia, chronic progressive external; pof - premature ovarian failure; primary ovarian insufficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic progressive external ophthalmoplegia; ophthalmoplegia, chronic progressive external; pof - premature ovarian failure; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Ear, External Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Ear, External in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
external ear cancer Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease external ear cancer in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
external ear disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease external ear disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
external ear carcinoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease external ear carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 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. |
aplasia/hypoplasia of the external ear Gene SetFrom HPO Gene-Disease Associations genes associated with the aplasia/hypoplasia of the external ear phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Exostosis Of External Ear Canal Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Exostosis Of External Ear Canal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Aplasia/Hypoplasia Of The External Ear Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Aplasia/Hypoplasia Of The External Ear in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Bilateral External Ear Deformity Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Bilateral External Ear Deformity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
External ear disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease External ear disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
External ear squamous cell carcinoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease External ear squamous cell carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
External ear carcinoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease External ear carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
External ear basal cell carcinoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease External ear basal cell carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
External ear cancer Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease External ear cancer in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 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. |
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. |
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails from the curated CTD Gene-Disease Associations dataset. |
congenital bilateral absence of the vas deferens Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital bilateral absence of the vas deferens in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital localized absence of skin Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital localized absence of skin phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital bilateral absence of vas deferens Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital bilateral absence of vas deferens phenotype from the curated OMIM Gene-Disease Associations dataset. |
Congenital Absence Of Vas Deferens Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Absence Of Vas Deferens in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Absence Of Spleen Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Absence Of Spleen in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Absence Of Thymus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Absence Of Thymus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Absence Of Germinal Epithelium Of Testes Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Absence Of Germinal Epithelium Of Testes in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Absence Of Kidney Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Absence Of Kidney in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Absence Of Kidneys Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Absence Of Kidneys Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Absence Of Both Testes Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Absence Of Both Testes in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Absence Of Liver Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Absence Of Liver in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Absence Of Hand Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Absence Of Hand in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Absence Of Parathyroid Gland Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Absence Of Parathyroid Gland in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Localized Absence Of Skin Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Localized Absence Of Skin in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Absence Of Pancreas Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Absence Of Pancreas in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Absence Of Breast Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Absence Of Breast in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Absence Of Mandible Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Absence Of Mandible in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Absence Of Lung Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Absence Of Lung in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Unilateral Absence Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Unilateral Absence in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Absence Of Uterus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Absence Of Uterus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Absence Of Ovary Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Absence Of Ovary in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Absence Of Tibia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Absence Of Tibia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Absence Of Bladder Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Absence Of Bladder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Absence Of Uvula Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Absence Of Uvula in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Absence Of Jaw Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Absence Of Jaw in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Absence Of Diaphragm Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Absence Of Diaphragm in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Absence Of Breast With Absent Nipple Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Absence Of Breast With Absent Nipple in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Absence Of Penis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Absence Of Penis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Absence Of Part Of Brain Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Absence Of Part Of Brain in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Absence Of Pulmonic Valve Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Absence Of Pulmonic Valve in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Absence Of Adrenal Gland Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Absence Of Adrenal Gland in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Vas Deferens, Congenital Bilarteral, Absence Of Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Vas Deferens, Congenital Bilarteral, Absence Of in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Congenital bilateral absence of vas deferens Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital bilateral absence of vas deferens from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Congenital bilateral absence of vas deferens Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital bilateral absence of vas deferens in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked congenital bilateral absence of vas deferens Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked congenital bilateral absence of vas deferens in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital absence of salivary gland Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital absence of salivary gland phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital bilateral absence of vas deferens Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital bilateral absence of vas deferens phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus in GWAS and other genetic association datasets from the DisGeNET 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. |
deafness, congenital with inner ear agenesis, microtia, and microdontia Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, congenital with inner ear agenesis, microtia, and microdontia phenotype from the curated OMIM Gene-Disease Associations dataset. |
Congenital Aplasia Of Inner Ear Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Aplasia Of Inner Ear in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Abnormal Shape Of Inner Ear Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Abnormal Shape Of Inner Ear in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations 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. |
Ulna and fibula absence of with severe limb deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ulna and fibula absence of with severe limb deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dominant dystrophic epidermolysis bullosa with absence of skin Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dominant dystrophic epidermolysis bullosa with absence of skin phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
(ER)-localized multiprotein complex, in absence of Ig heavy chains Gene Setproteins in the (ER)-localized multiprotein complex, in absence of Ig heavy chains protein complex from the CORUM Protein Complexes dataset. |
Absence of Tibia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Absence of Tibia from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Absence Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Absence from the curated CTD Gene-Disease Associations dataset. |
juvenile absence epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease juvenile absence epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
childhood absence epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease childhood absence epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
early onset absence epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease early onset absence epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
anodontia; developmental absence of tooth Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anodontia; developmental absence of tooth in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy, absence; epilepsy, generalized; epilepsy, reflex; myoclonic epilepsy, juvenile Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy, absence; epilepsy, generalized; epilepsy, reflex; myoclonic epilepsy, juvenile in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
childhood absence epilepsy. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease childhood absence epilepsy. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy, absence; epilepsy, generalized Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy, absence; epilepsy, generalized in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
absence Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term absence in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
positive regulation of extrinsic apoptotic signaling pathway in absence of ligand Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of extrinsic apoptotic signaling pathway in absence of ligand biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of collateral sprouting in absence of injury Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of collateral sprouting in absence of injury biological process from the curated GO Biological Process Annotations 2015 dataset. |
extrinsic apoptotic signaling pathway in absence of ligand Gene SetFrom GO Biological Process Annotations 2015 genes participating in the extrinsic apoptotic signaling pathway in absence of ligand biological process from the curated GO Biological Process Annotations 2015 dataset. |
collateral sprouting in absence of injury Gene SetFrom GO Biological Process Annotations 2015 genes participating in the collateral sprouting in absence of injury biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of extrinsic apoptotic signaling pathway in absence of ligand Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of extrinsic apoptotic signaling pathway in absence of ligand biological process from the curated GO Biological Process Annotations 2015 dataset. |
signal transduction in absence of ligand Gene SetFrom GO Biological Process Annotations 2015 genes participating in the signal transduction in absence of ligand biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of extrinsic apoptotic signaling pathway in absence of ligand Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of extrinsic apoptotic signaling pathway in absence of ligand biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of collateral sprouting in absence of injury Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of collateral sprouting in absence of injury biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of collateral sprouting in absence of injury Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of collateral sprouting in absence of injury biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of signal transduction in absence of ligand Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of signal transduction in absence of ligand biological process from the curated GO Biological Process Annotations 2015 dataset. |
absence of pectoralis minor muscle Gene SetFrom HPO Gene-Disease Associations genes associated with the absence of pectoralis minor muscle phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
absence of intrinsic factor Gene SetFrom HPO Gene-Disease Associations genes associated with the absence of intrinsic factor phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
absence seizures Gene SetFrom HPO Gene-Disease Associations genes associated with the absence seizures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
absence of subcutaneous fat Gene SetFrom HPO Gene-Disease Associations genes associated with the absence of subcutaneous fat phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
absence of visual evoked potentials Gene SetFrom HPO Gene-Disease Associations genes associated with the absence of visual evoked potentials phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
absence of bactericidal oxidative 'respiratory burst' in phagocytes Gene SetFrom HPO Gene-Disease Associations genes associated with the absence of bactericidal oxidative 'respiratory burst' in phagocytes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
absence of lymph node germinal center Gene SetFrom HPO Gene-Disease Associations genes associated with the absence of lymph node germinal center phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
absence of labia majora Gene SetFrom HPO Gene-Disease Associations genes associated with the absence of labia majora phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
absence of secondary sex characteristics Gene SetFrom HPO Gene-Disease Associations genes associated with the absence of secondary sex characteristics phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
absence of subcutaneous fat over entire body except buttocks, hips, and thighs Gene SetFrom HPO Gene-Disease Associations genes associated with the absence of subcutaneous fat over entire body except buttocks, hips, and thighs phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
absence of pubertal development Gene SetFrom HPO Gene-Disease Associations genes associated with the absence of pubertal development phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
deficiency or absence of cytochrome b(-245) Gene SetFrom HPO Gene-Disease Associations genes associated with the deficiency or absence of cytochrome b(-245) phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
absence of renal corticomedullary differentiation Gene SetFrom HPO Gene-Disease Associations genes associated with the absence of renal corticomedullary differentiation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
absence of cd8+ t cells Gene SetFrom HPO Gene-Disease Associations genes associated with the absence of cd8+ t cells phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
partial absence of thumb Gene SetFrom HPO Gene-Disease Associations genes associated with the partial absence of thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
absence of stensen duct Gene SetFrom HPO Gene-Disease Associations genes associated with the absence of stensen duct phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
absence of acoustic reflex Gene SetFrom HPO Gene-Disease Associations genes associated with the absence of acoustic reflex phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
absence of lutheran antigen on erythrocytes Gene SetFrom HPO Gene-Disease Associations genes associated with the absence of lutheran antigen on erythrocytes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) Gene SetFrom HPO Gene-Disease Associations genes associated with the nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Epilepsy, Absence Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Epilepsy, Absence phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
absence of ampa-mediated synaptic currents Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the absence of ampa-mediated synaptic currents phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
absence of nmda-mediated synaptic currents Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the absence of nmda-mediated synaptic currents phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
absence seizures Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the absence seizures phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
absence of all nails Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the absence of all nails phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
[tuberculin skin test reactivity, absence of] Gene SetFrom OMIM Gene-Disease Associations genes associated with the [tuberculin skin test reactivity, absence of] phenotype from the curated OMIM Gene-Disease Associations dataset. |
ulna and fibula, absence of, with severe limb deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the ulna and fibula, absence of, with severe limb deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, childhood absence, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, childhood absence, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
{epilepsy, childhood absence, susceptibility to, 2} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {epilepsy, childhood absence, susceptibility to, 2} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{epilepsy, childhood absence, susceptibility to, 6} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {epilepsy, childhood absence, susceptibility to, 6} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{epilepsy, childhood absence, susceptibility to, 4} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {epilepsy, childhood absence, susceptibility to, 4} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{epilepsy, juvenile absence, susceptibility to, 2} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {epilepsy, juvenile absence, susceptibility to, 2} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{epilepsy, childhood absence, susceptibility to, 5} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {epilepsy, childhood absence, susceptibility to, 5} phenotype from the curated OMIM Gene-Disease Associations dataset. |
{epilepsy, juvenile absence, susceptibility to, 1} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {epilepsy, juvenile absence, susceptibility to, 1} phenotype from the curated OMIM Gene-Disease Associations dataset. |
Formation of HIV elongation complex in the absence of HIV Tat Gene Setproteins participating in the Formation of HIV elongation complex in the absence of HIV Tat pathway from the Reactome Pathways dataset. |
Abortive elongation of HIV-1 transcript in the absence of Tat Gene Setproteins participating in the Abortive elongation of HIV-1 transcript in the absence of Tat pathway from the Reactome Pathways dataset. |
Absence Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Absence Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Childhood Absence Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Childhood Absence Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Absence Of Muscle Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Absence Of Muscle in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Juvenile Absence Epilepsy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Juvenile Absence Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Absence Of Septum Pellucidum Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Absence Of Septum Pellucidum in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Developmental Absence Of Tooth Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Developmental Absence Of Tooth in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Absence Seizure Disorder Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Absence Seizure Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Atypical Absence Seizure Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Atypical Absence Seizure in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Duchenne Muscular Dystrophy, Mental Retardation, And Absence Of Erg B-Wave Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Duchenne Muscular Dystrophy, Mental Retardation, And Absence Of Erg B-Wave in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Lacrimal Puncta, Absence Of Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lacrimal Puncta, Absence Of in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Absence Of Alpha Granules Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Absence Of Alpha Granules in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Absence Of Lutheran Antigen On Erythrocytes Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Absence Of Lutheran Antigen On Erythrocytes in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Absence Of Tibia With Polydactyly Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Absence Of Tibia With Polydactyly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Partial Absence Of Cerebellar Vermis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Partial Absence Of Cerebellar Vermis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Absence Seizures Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Absence Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Atonic Absence Seizures Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Atonic Absence Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Generalized Absence Seizures Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Generalized Absence Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Absence Of Sensation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Absence Of Sensation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Absence Of Lymph Node Germinal Center Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Absence Of Lymph Node Germinal Center in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Absence Of Pubertal Development Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Absence Of Pubertal Development in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Absence Of Secondary Sex Characteristics Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Absence Of Secondary Sex Characteristics in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Absence Of Hand Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Absence Of Hand in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Typical Absence Seizures Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Typical Absence Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Absence Of Rib Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Absence Of Rib in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Absence Of Subcutaneous Fat Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Absence Of Subcutaneous Fat in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Absence Of Intrinsic Factor Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Absence Of Intrinsic Factor in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Absence Of Cd8-Positive T Cells Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Absence Of Cd8-Positive T Cells in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Absence Of Labia Majora Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Absence Of Labia Majora in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Absence Of Stomach Bubble On Fetal Sonography Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Absence Of Stomach Bubble On Fetal Sonography in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Fingerprints, Absence Of Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Fingerprints, Absence Of in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Absence Of Bactericidal Oxidative Respiratory Burst In Phagocytes Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Absence Of Bactericidal Oxidative Respiratory Burst In Phagocytes in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Deficiency Or Absence Of Cytochrome B(-245) Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Deficiency Or Absence Of Cytochrome B(-245) in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Absence Of Pain Sensation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Absence Of Pain Sensation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Absence Of Acoustic Reflex Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Absence Of Acoustic Reflex in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Absence Attacks Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Absence Attacks in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Absence Of Stensen Duct Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Absence Of Stensen Duct in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Islets Of Langerhans, Absence Of Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Islets Of Langerhans, Absence Of in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Partial Absence Of Foot Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Partial Absence Of Foot in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Absence Of Renal Corticomedullary Differentiation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Absence Of Renal Corticomedullary Differentiation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Absence Of Pectoralis Minor Muscle Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Absence Of Pectoralis Minor Muscle in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Partial Absence Of Toe Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Partial Absence Of Toe in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
negative regulation of extrinsic apoptotic signaling pathway in absence of ligand Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of extrinsic apoptotic signaling pathway in absence of ligand biological process from the curated GO Biological Process Annotations 2023 dataset. |
positive regulation of extrinsic apoptotic signaling pathway in absence of ligand Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of extrinsic apoptotic signaling pathway in absence of ligand biological process from the curated GO Biological Process Annotations 2023 dataset. |
collateral sprouting in absence of injury Gene SetFrom GO Biological Process Annotations 2023 genes participating in the collateral sprouting in absence of injury biological process from the curated GO Biological Process Annotations 2023 dataset. |
extrinsic apoptotic signaling pathway in absence of ligand Gene SetFrom GO Biological Process Annotations 2023 genes participating in the extrinsic apoptotic signaling pathway in absence of ligand biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of extrinsic apoptotic signaling pathway in absence of ligand Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of extrinsic apoptotic signaling pathway in absence of ligand biological process from the curated GO Biological Process Annotations 2023 dataset. |
negative regulation of signal transduction in absence of ligand Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of signal transduction in absence of ligand biological process from the curated GO Biological Process Annotations 2023 dataset. |
absence seizures Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the absence seizures phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
absence of NMDA-mediated synaptic currents Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the absence of NMDA-mediated synaptic currents phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
absence of all nails Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the absence of all nails phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
absence of AMPA-mediated synaptic currents Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the absence of AMPA-mediated synaptic currents phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Abortive elongation of HIV-1 transcript in the absence of Tat Gene Setproteins participating in the Abortive elongation of HIV-1 transcript in the absence of Tat pathway from the Reactome Pathways 2024 dataset. |
Caspase activation via Dependence Receptors in the absence of ligand Gene Setproteins participating in the Caspase activation via Dependence Receptors in the absence of ligand pathway from the Reactome Pathways 2024 dataset. |
Formation of HIV elongation complex in the absence of HIV Tat Gene Setproteins participating in the Formation of HIV elongation complex in the absence of HIV Tat pathway from the Reactome Pathways 2024 dataset. |
negative regulation of extrinsic apoptotic signaling pathway in absence of ligand Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of extrinsic apoptotic signaling pathway in absence of ligand biological process from the curated GO Biological Process Annotations 2025 dataset. |
positive regulation of extrinsic apoptotic signaling pathway in absence of ligand Gene SetFrom GO Biological Process Annotations 2025 genes participating in the positive regulation of extrinsic apoptotic signaling pathway in absence of ligand biological process from the curated GO Biological Process Annotations 2025 dataset. |
collateral sprouting in absence of injury Gene SetFrom GO Biological Process Annotations 2025 genes participating in the collateral sprouting in absence of injury biological process from the curated GO Biological Process Annotations 2025 dataset. |
extrinsic apoptotic signaling pathway in absence of ligand Gene SetFrom GO Biological Process Annotations 2025 genes participating in the extrinsic apoptotic signaling pathway in absence of ligand biological process from the curated GO Biological Process Annotations 2025 dataset. |
negative regulation of signal transduction in absence of ligand Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of signal transduction in absence of ligand biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of extrinsic apoptotic signaling pathway in absence of ligand Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of extrinsic apoptotic signaling pathway in absence of ligand biological process from the curated GO Biological Process Annotations 2025 dataset. |
Childhood absence epilepsy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Childhood absence epilepsy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Absence epilepsy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Absence epilepsy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Absence epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Absence epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Childhood absence epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Childhood absence epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Juvenile absence epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Juvenile absence epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Juvenile absence epilepsy 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Juvenile absence epilepsy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Early onset absence epilepsy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Early onset absence epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Absence seizure Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Absence seizure phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Absence of the sacrum Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Absence of the sacrum phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Typical absence seizure Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Typical absence seizure phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Myoclonic absence seizure Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Myoclonic absence seizure phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Childhood absence epilepsy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Childhood absence epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Childhood absence epilepsy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Childhood absence epilepsy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
globus pallidus, external segment, right Gene SetFrom Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles genes with high or low expression in globus pallidus, external segment, right relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset. |
globus pallidus, external segment, left Gene SetFrom Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles genes with high or low expression in globus pallidus, external segment, left relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset. |
external globus pallidum Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in external globus pallidum relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
r9 part of external cuneate nucleus Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in r9 part of external cuneate nucleus relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
external part of AOD Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in external part of AOD relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
external part of AOV Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in external part of AOV relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
Inferior colliculus, external nucleus Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in Inferior colliculus, external nucleus relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
r10 part of external cuneate nucleus Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in r10 part of external cuneate nucleus relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
Parabrachial nucleus, medial division, external medial part Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in Parabrachial nucleus, medial division, external medial part relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
external cortical nucleus of inferior colliculus Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in external cortical nucleus of inferior colliculus relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
Anterior olfactory nucleus, external part Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in Anterior olfactory nucleus, external part relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
External cuneate nucleus Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in External cuneate nucleus relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
bed nucleus of the external capsule Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in bed nucleus of the external capsule relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
Globus pallidus, external segment Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in Globus pallidus, external segment relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
Parabrachial nucleus, lateral division, external lateral part Gene SetFrom Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles genes with high or low expression in Parabrachial nucleus, lateral division, external lateral part relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. |
external granular (germinal) layer of upper rhombic lip Gene SetFrom Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles genes with high or low expression in external granular (germinal) layer of upper rhombic lip relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. |
external granular (germinal) layer of lower rhombic lip Gene SetFrom Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles genes with high or low expression in external granular (germinal) layer of lower rhombic lip relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. |
external segment of globus pallidus Gene SetFrom Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles genes with high or low expression in external segment of globus pallidus relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. |
Cerebellar ataxia infantile with progressive external ophthalmoplegia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia infantile with progressive external ophthalmoplegia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Minicore myopathy with external ophthalmoplegia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Minicore myopathy with external ophthalmoplegia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
extrinsic component of external side of plasma membrane Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the extrinsic component of external side of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
anchored component of external side of plasma membrane Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the anchored component of external side of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
intrinsic component of external side of plasma membrane Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the intrinsic component of external side of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
external side of cell outer membrane Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the external side of cell outer membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
external encapsulating structure Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the external encapsulating structure cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
integral component of external side of plasma membrane Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the integral component of external side of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
external side of plasma membrane Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the external side of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
external encapsulating structure part Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the external encapsulating structure part cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
external encapsulating structure Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the external encapsulating structure cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
external side of plasma membrane Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the external side of plasma membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
endospore external encapsulating structure Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the endospore external encapsulating structure cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
external encapsulating structure part Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the external encapsulating structure part cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 from the curated CTD Gene-Disease Associations dataset. |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4 from the curated CTD Gene-Disease Associations dataset. |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 from the curated CTD Gene-Disease Associations dataset. |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 from the curated CTD Gene-Disease Associations dataset. |
Minicore Myopathy with External Ophthalmoplegia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Minicore Myopathy with External Ophthalmoplegia from the curated CTD Gene-Disease Associations dataset. |
Ophthalmoplegia, Chronic Progressive External Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ophthalmoplegia, Chronic Progressive External from the curated CTD Gene-Disease Associations dataset. |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 from the curated CTD Gene-Disease Associations dataset. |
Ophthalmoplegia, External, and Myopia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ophthalmoplegia, External, and Myopia from the curated CTD Gene-Disease Associations dataset. |
chronic progressive external ophthalmoplegia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease chronic progressive external ophthalmoplegia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
chronic progressive external ophthalmoplegia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease chronic progressive external ophthalmoplegia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
ophthalmoplegia, chronic progressive external Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ophthalmoplegia, chronic progressive external in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
progressive external ophthalmoplegia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease progressive external ophthalmoplegia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
external Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term external in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
external genitalia morphogenesis Gene SetFrom GO Biological Process Annotations 2015 genes participating in the external genitalia morphogenesis biological process from the curated GO Biological Process Annotations 2015 dataset. |
external encapsulating structure organization Gene SetFrom GO Biological Process Annotations 2015 genes participating in the external encapsulating structure organization biological process from the curated GO Biological Process Annotations 2015 dataset. |
cell proliferation in external granule layer Gene SetFrom GO Biological Process Annotations 2015 genes participating in the cell proliferation in external granule layer biological process from the curated GO Biological Process Annotations 2015 dataset. |
detection of external stimulus Gene SetFrom GO Biological Process Annotations 2015 genes participating in the detection of external stimulus biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of response to external stimulus Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of response to external stimulus biological process from the curated GO Biological Process Annotations 2015 dataset. |
detection of external biotic stimulus Gene SetFrom GO Biological Process Annotations 2015 genes participating in the detection of external biotic stimulus biological process from the curated GO Biological Process Annotations 2015 dataset. |
response to external stimulus Gene SetFrom GO Biological Process Annotations 2015 genes participating in the response to external stimulus biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of response to external stimulus Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of response to external stimulus biological process from the curated GO Biological Process Annotations 2015 dataset. |
response to external biotic stimulus Gene SetFrom GO Biological Process Annotations 2015 genes participating in the response to external biotic stimulus biological process from the curated GO Biological Process Annotations 2015 dataset. |
cellular response to external stimulus Gene SetFrom GO Biological Process Annotations 2015 genes participating in the cellular response to external stimulus biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of response to external stimulus Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of response to external stimulus biological process from the curated GO Biological Process Annotations 2015 dataset. |
extrinsic component of external side of plasma membrane Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the extrinsic component of external side of plasma membrane cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
intrinsic component of external side of plasma membrane Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the intrinsic component of external side of plasma membrane cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
external side of cell outer membrane Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the external side of cell outer membrane cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
external encapsulating structure Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the external encapsulating structure cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
integral component of external side of plasma membrane Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the integral component of external side of plasma membrane cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
anchored component of external side of plasma membrane Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the anchored component of external side of plasma membrane cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
external side of plasma membrane Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the external side of plasma membrane cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
external encapsulating structure part Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the external encapsulating structure part cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
abnormal external genitalia Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the abnormal external genitalia phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
displacement of the external urethral meatus Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the displacement of the external urethral meatus phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
abnormality of male external genitalia Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the abnormality of male external genitalia phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
hypoplastic male external genitalia Gene SetFrom HPO Gene-Disease Associations genes associated with the hypoplastic male external genitalia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
hypoplastic female external genitalia Gene SetFrom HPO Gene-Disease Associations genes associated with the hypoplastic female external genitalia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
absent external genitalia Gene SetFrom HPO Gene-Disease Associations genes associated with the absent external genitalia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormal external genitalia Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormal external genitalia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormality of female external genitalia Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of female external genitalia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
gonadal tissue inappropriate for external genitalia or chromosomal sex Gene SetFrom HPO Gene-Disease Associations genes associated with the gonadal tissue inappropriate for external genitalia or chromosomal sex phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
overgrowth of external genitalia Gene SetFrom HPO Gene-Disease Associations genes associated with the overgrowth of external genitalia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
nonprogressive restrictive external ophthalmoplegia Gene SetFrom HPO Gene-Disease Associations genes associated with the nonprogressive restrictive external ophthalmoplegia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
displacement of the external urethral meatus Gene SetFrom HPO Gene-Disease Associations genes associated with the displacement of the external urethral meatus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
external ophthalmoplegia Gene SetFrom HPO Gene-Disease Associations genes associated with the external ophthalmoplegia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
restrictive external ophthalmoplegia Gene SetFrom HPO Gene-Disease Associations genes associated with the restrictive external ophthalmoplegia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
female external genitalia in individual with 46,xy karyotype Gene SetFrom HPO Gene-Disease Associations genes associated with the female external genitalia in individual with 46,xy karyotype phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
external genital hypoplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the external genital hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive external ophthalmoplegia Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive external ophthalmoplegia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
atresia of the external auditory canal Gene SetFrom HPO Gene-Disease Associations genes associated with the atresia of the external auditory canal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormality of the external nose Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of the external nose phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
exostosis of the external auditory canal Gene SetFrom HPO Gene-Disease Associations genes associated with the exostosis of the external auditory canal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormality of male external genitalia Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of male external genitalia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
stenosis of the external auditory canal Gene SetFrom HPO Gene-Disease Associations genes associated with the stenosis of the external auditory canal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Ophthalmoplegia, Chronic Progressive External Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Ophthalmoplegia, Chronic Progressive External phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
abnormal external urethral orifice morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal external urethral orifice morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal cerebellum external granule cell layer morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal cerebellum external granule cell layer morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
absent external male genitalia Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the absent external male genitalia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal external nares morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal external nares morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal external auditory canal morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal external auditory canal morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
enlarged external male genitalia Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the enlarged external male genitalia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal external carotid artery morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal external carotid artery morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal external male genitalia morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal external male genitalia morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
absent external auditory canal Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the absent external auditory canal phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
absent external female genitalia Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the absent external female genitalia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
small external male genitalia Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the small external male genitalia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal olfactory bulb external plexiform layer morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal olfactory bulb external plexiform layer morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
external male genitalia atrophy Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the external male genitalia atrophy phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal external female genitalia morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal external female genitalia morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
thin external granule cell layer Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the thin external granule cell layer phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
progressive external ophthalmoplegia, autosomal dominant, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the progressive external ophthalmoplegia, autosomal dominant, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
progressive external ophthalmoplegia, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the progressive external ophthalmoplegia, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
minicore myopathy with external ophthalmoplegia Gene SetFrom OMIM Gene-Disease Associations genes associated with the minicore myopathy with external ophthalmoplegia phenotype from the curated OMIM Gene-Disease Associations dataset. |
progressive external ophthalmoplegia with mitochondrial dna deletions 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the progressive external ophthalmoplegia with mitochondrial dna deletions 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
progressive external ophthalmoplegia, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the progressive external ophthalmoplegia, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
external male genital organ Gene SetFrom TISSUES Curated Tissue Protein Expression Evidence Scores proteins highly expressed in the tissue external male genital organ from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. |
external female genital organ Gene SetFrom TISSUES Curated Tissue Protein Expression Evidence Scores proteins highly expressed in the tissue external female genital organ from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. |
external iliac artery Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue external iliac artery in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
external male genital organ Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue external male genital organ in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
external carotid artery Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue external carotid artery in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
external gill Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue external gill in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
external plexiform layer Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue external plexiform layer in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
external female genital organ Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue external female genital organ in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
External Exotoses Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease External Exotoses in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Chronic Progressive External Ophthalmoplegia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Chronic Progressive External Ophthalmoplegia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Minicore Myopathy With External Ophthalmoplegia (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Minicore Myopathy With External Ophthalmoplegia (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Abnormality Of Female External Genitalia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Abnormality Of Female External Genitalia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
External Carotid Artery Stenosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease External Carotid Artery Stenosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Abnormal External Genitalia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Abnormal External Genitalia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
External Ophthalmoplegia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease External Ophthalmoplegia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
External Hydrocephalus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease External Hydrocephalus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive External Ophthalmoplegia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive External Ophthalmoplegia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
External Carotid Artery Thrombosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease External Carotid Artery Thrombosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
External Resorption Of Tooth Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease External Resorption Of Tooth in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Displacement Of The External Urethral Meatus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Displacement Of The External Urethral Meatus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nonprogressive Restrictive External Ophthalmoplegia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Nonprogressive Restrictive External Ophthalmoplegia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
External Genital Hypoplasia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype External Genital Hypoplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Female External Genitalia In Individual With 46,Xy Karyotype Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Female External Genitalia In Individual With 46,Xy Karyotype in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Absent External Genitalia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Absent External Genitalia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Overgrowth Of External Genitalia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Overgrowth Of External Genitalia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Restrictive External Ophthalmoplegia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Restrictive External Ophthalmoplegia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abnormality Of Male External Genitalia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormality Of Male External Genitalia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Gonadal Tissue Inappropriate For External Genitalia Or Chromosomal Sex Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Gonadal Tissue Inappropriate For External Genitalia Or Chromosomal Sex in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
external genitalia morphogenesis Gene SetFrom GO Biological Process Annotations 2023 genes participating in the external genitalia morphogenesis biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of response to external stimulus Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of response to external stimulus biological process from the curated GO Biological Process Annotations 2023 dataset. |
negative regulation of response to external stimulus Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of response to external stimulus biological process from the curated GO Biological Process Annotations 2023 dataset. |
positive regulation of response to external stimulus Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of response to external stimulus biological process from the curated GO Biological Process Annotations 2023 dataset. |
external encapsulating structure organization Gene SetFrom GO Biological Process Annotations 2023 genes participating in the external encapsulating structure organization biological process from the curated GO Biological Process Annotations 2023 dataset. |
detection of external biotic stimulus Gene SetFrom GO Biological Process Annotations 2023 genes participating in the detection of external biotic stimulus biological process from the curated GO Biological Process Annotations 2023 dataset. |
cell proliferation in external granule layer Gene SetFrom GO Biological Process Annotations 2023 genes participating in the cell proliferation in external granule layer biological process from the curated GO Biological Process Annotations 2023 dataset. |
extrinsic component of external side of plasma membrane Gene SetFrom GO Cellular Component Annotations 2023 proteins localized to the extrinsic component of external side of plasma membrane cellular component from the curated GO Cellular Component Annotations 2023 dataset. |
external side of apical plasma membrane Gene SetFrom GO Cellular Component Annotations 2023 proteins localized to the external side of apical plasma membrane cellular component from the curated GO Cellular Component Annotations 2023 dataset. |
absent external auditory canal Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the absent external auditory canal phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal cerebellum external granule cell layer morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal cerebellum external granule cell layer morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal external auditory canal morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal external auditory canal morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal olfactory bulb external plexiform layer morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal olfactory bulb external plexiform layer morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
absent external nares Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the absent external nares phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
thin external granule cell layer Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the thin external granule cell layer phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
external male genitalia atrophy Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the external male genitalia atrophy phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
ambiguous external female genitalia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the ambiguous external female genitalia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
absent external male genitalia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the absent external male genitalia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
absent external female genitalia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the absent external female genitalia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal external female genitalia morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal external female genitalia morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal external male genitalia morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal external male genitalia morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
small external male genitalia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the small external male genitalia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
ambiguous external male genitalia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the ambiguous external male genitalia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
small external nares Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the small external nares phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal external nares morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal external nares morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
external auditory canal stenosis Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the external auditory canal stenosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
enlarged external male genitalia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the enlarged external male genitalia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal external carotid artery morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal external carotid artery morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
single external naris Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the single external naris phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
increased brain external capsule size Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the increased brain external capsule size phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal external carotid artery origin Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal external carotid artery origin phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
external male genitalia hypoplasia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the external male genitalia hypoplasia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
absent external male genitalia Gene SetFrom IMPC Knockout Mouse Phenotypes gene knockouts causing the absent external male genitalia phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset. |
external genitalia morphogenesis Gene SetFrom GO Biological Process Annotations 2025 genes participating in the external genitalia morphogenesis biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of response to external stimulus Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of response to external stimulus biological process from the curated GO Biological Process Annotations 2025 dataset. |
negative regulation of response to external stimulus Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of response to external stimulus biological process from the curated GO Biological Process Annotations 2025 dataset. |
positive regulation of response to external stimulus Gene SetFrom GO Biological Process Annotations 2025 genes participating in the positive regulation of response to external stimulus biological process from the curated GO Biological Process Annotations 2025 dataset. |
external encapsulating structure organization Gene SetFrom GO Biological Process Annotations 2025 genes participating in the external encapsulating structure organization biological process from the curated GO Biological Process Annotations 2025 dataset. |
detection of external biotic stimulus Gene SetFrom GO Biological Process Annotations 2025 genes participating in the detection of external biotic stimulus biological process from the curated GO Biological Process Annotations 2025 dataset. |
cell proliferation in external granule layer Gene SetFrom GO Biological Process Annotations 2025 genes participating in the cell proliferation in external granule layer biological process from the curated GO Biological Process Annotations 2025 dataset. |
external side of apical plasma membrane Gene SetFrom GO Cellular Component Annotations 2025 proteins localized to the external side of apical plasma membrane cellular component from the curated GO Cellular Component Annotations 2025 dataset. |
extrinsic component of external side of plasma membrane Gene SetFrom GO Cellular Component Annotations 2025 proteins localized to the extrinsic component of external side of plasma membrane cellular component from the curated GO Cellular Component Annotations 2025 dataset. |
Chronic progressive external ophthalmoplegia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Chronic progressive external ophthalmoplegia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Chronic progressive external ophthalmoplegia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Chronic progressive external ophthalmoplegia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
External female genital organ Gene SetFrom TISSUES Curated Tissue Protein Expression Evidence Scores 2025 proteins highly expressed in the tissue External female genital organ from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. |
External male genital organ Gene SetFrom TISSUES Curated Tissue Protein Expression Evidence Scores 2025 proteins highly expressed in the tissue External male genital organ from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. |
External male genital organ Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue External male genital organ in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
External female genital organ Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue External female genital organ in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
External ectoderm Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue External ectoderm in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
External carotid artery Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue External carotid artery in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
External plexiform layer Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue External plexiform layer in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
External iliac artery Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue External iliac artery in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
External gill Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue External gill in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
External side of plasma membrane Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the External side of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
External encapsulating structure Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the External encapsulating structure cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
Extrinsic component of external side of plasma membrane Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Extrinsic component of external side of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
External side of apical plasma membrane Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the External side of apical plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
External encapsulating structure Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the External encapsulating structure cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Endospore external encapsulating structure Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Endospore external encapsulating structure cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Integral component of external side of plasma membrane Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Integral component of external side of plasma membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
External side of cell wall Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the External side of cell wall cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
External side of cell outer membrane Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the External side of cell outer membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
External side of apical plasma membrane Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the External side of apical plasma membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Intrinsic component of external side of cell outer membrane Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Intrinsic component of external side of cell outer membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Anchored component of external side of plasma membrane Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Anchored component of external side of plasma membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
External side of plasma membrane Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the External side of plasma membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Extrinsic component of external side of plasma membrane Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Extrinsic component of external side of plasma membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Intrinsic component of external side of plasma membrane Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Intrinsic component of external side of plasma membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Progressive external ophthalmoplegia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive external ophthalmoplegia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal recessive progressive external ophthalmoplegia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive progressive external ophthalmoplegia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Carotid artery external diameter Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Carotid artery external diameter phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Scalp ear nipple syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Scalp ear nipple syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ear Diseases Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ear Diseases from the curated CTD Gene-Disease Associations dataset. |
inner ear disease Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease inner ear disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
cholesteatoma of middle ear Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease cholesteatoma of middle ear in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
middle ear squamous cell carcinoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease middle ear squamous cell carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
inner ear disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease inner ear disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
middle ear cholesteatoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease middle ear cholesteatoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
middle ear carcinoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease middle ear carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
middle ear adenoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease middle ear adenoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
middle ear cancer Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease middle ear cancer in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
middle ear disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease middle ear disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
ear Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term ear in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
inner ear morphogenesis Gene SetFrom GO Biological Process Annotations 2015 genes participating in the inner ear morphogenesis biological process from the curated GO Biological Process Annotations 2015 dataset. |
inner ear receptor cell differentiation Gene SetFrom GO Biological Process Annotations 2015 genes participating in the inner ear receptor cell differentiation biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of inner ear receptor cell differentiation Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of inner ear receptor cell differentiation biological process from the curated GO Biological Process Annotations 2015 dataset. |
inner ear receptor cell development Gene SetFrom GO Biological Process Annotations 2015 genes participating in the inner ear receptor cell development biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of inner ear receptor cell differentiation Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of inner ear receptor cell differentiation biological process from the curated GO Biological Process Annotations 2015 dataset. |
inner ear development Gene SetFrom GO Biological Process Annotations 2015 genes participating in the inner ear development biological process from the curated GO Biological Process Annotations 2015 dataset. |
ear development Gene SetFrom GO Biological Process Annotations 2015 genes participating in the ear development biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of inner ear receptor cell differentiation Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of inner ear receptor cell differentiation biological process from the curated GO Biological Process Annotations 2015 dataset. |
inner ear receptor stereocilium organization Gene SetFrom GO Biological Process Annotations 2015 genes participating in the inner ear receptor stereocilium organization biological process from the curated GO Biological Process Annotations 2015 dataset. |
ear morphogenesis Gene SetFrom GO Biological Process Annotations 2015 genes participating in the ear morphogenesis biological process from the curated GO Biological Process Annotations 2015 dataset. |
middle ear morphogenesis Gene SetFrom GO Biological Process Annotations 2015 genes participating in the middle ear morphogenesis biological process from the curated GO Biological Process Annotations 2015 dataset. |
inner ear receptor cell fate commitment Gene SetFrom GO Biological Process Annotations 2015 genes participating in the inner ear receptor cell fate commitment biological process from the curated GO Biological Process Annotations 2015 dataset. |
outer ear morphogenesis Gene SetFrom GO Biological Process Annotations 2015 genes participating in the outer ear morphogenesis biological process from the curated GO Biological Process Annotations 2015 dataset. |
middle ear disease Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease middle ear disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
inner ear disease Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease inner ear disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
morphological abnormality of the middle ear Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the morphological abnormality of the middle ear phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
abnormality of the ear Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the abnormality of the ear phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
abnormality of the middle ear ossicles Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the abnormality of the middle ear ossicles phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
abnormality of the middle ear Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the abnormality of the middle ear phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
stahl ear Gene SetFrom HPO Gene-Disease Associations genes associated with the stahl ear phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
round ear Gene SetFrom HPO Gene-Disease Associations genes associated with the round ear phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
crumpled ear Gene SetFrom HPO Gene-Disease Associations genes associated with the crumpled ear phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
morphological abnormality of the middle ear Gene SetFrom HPO Gene-Disease Associations genes associated with the morphological abnormality of the middle ear phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormality of the ear Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of the ear phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
neoplasm of the inner ear Gene SetFrom HPO Gene-Disease Associations genes associated with the neoplasm of the inner ear phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
protruding ear Gene SetFrom HPO Gene-Disease Associations genes associated with the protruding ear phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
morphological abnormality of the inner ear Gene SetFrom HPO Gene-Disease Associations genes associated with the morphological abnormality of the inner ear phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
morphological abnormality of the vestibule of the inner ear Gene SetFrom HPO Gene-Disease Associations genes associated with the morphological abnormality of the vestibule of the inner ear phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormality of the inner ear Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of the inner ear phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
cupped ear Gene SetFrom HPO Gene-Disease Associations genes associated with the cupped ear phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
neoplasm of the outer ear Gene SetFrom HPO Gene-Disease Associations genes associated with the neoplasm of the outer ear phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
dilated vestibule of the inner ear Gene SetFrom HPO Gene-Disease Associations genes associated with the dilated vestibule of the inner ear phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormality of the middle ear Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of the middle ear phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
fusion of middle ear ossicles Gene SetFrom HPO Gene-Disease Associations genes associated with the fusion of middle ear ossicles phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
lop ear Gene SetFrom HPO Gene-Disease Associations genes associated with the lop ear phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormal middle ear reflexes Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormal middle ear reflexes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
aplasia/hypoplasia of the ear Gene SetFrom HPO Gene-Disease Associations genes associated with the aplasia/hypoplasia of the ear phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
functional abnormality of the inner ear Gene SetFrom HPO Gene-Disease Associations genes associated with the functional abnormality of the inner ear phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
functional abnormality of the middle ear Gene SetFrom HPO Gene-Disease Associations genes associated with the functional abnormality of the middle ear phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
neoplasm of the middle ear Gene SetFrom HPO Gene-Disease Associations genes associated with the neoplasm of the middle ear phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
neoplasm of the ear Gene SetFrom HPO Gene-Disease Associations genes associated with the neoplasm of the ear phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
aplasia/hypoplasia of the inner ear Gene SetFrom HPO Gene-Disease Associations genes associated with the aplasia/hypoplasia of the inner ear phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
hypoplasia of the ear cartilage Gene SetFrom HPO Gene-Disease Associations genes associated with the hypoplasia of the ear cartilage phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormality of the outer ear Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of the outer ear phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormality of the middle ear ossicles Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of the middle ear ossicles phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short ear Gene SetFrom HPO Gene-Disease Associations genes associated with the short ear phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
long ear Gene SetFrom HPO Gene-Disease Associations genes associated with the long ear phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
aplasia of the inner ear Gene SetFrom HPO Gene-Disease Associations genes associated with the aplasia of the inner ear phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Ear Diseases Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Ear Diseases phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Adaptin ear-binding coat-associated protein 1 NECAP-1 Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Adaptin ear-binding coat-associated protein 1 NECAP-1 protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
EAR Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the EAR protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
abnormal ear development Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal ear development phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal ear distance/ position Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal ear distance/ position phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
increased ear pigmentation Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the increased ear pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
inner ear cysts Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the inner ear cysts phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
lowered ear position Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the lowered ear position phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal ear physiology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal ear physiology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal ear pigmentation Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal ear pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal outer ear morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal outer ear morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal middle ear morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal middle ear morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
delayed inner ear development Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the delayed inner ear development phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
absent middle ear ossicles Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the absent middle ear ossicles phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal middle ear ossicle morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal middle ear ossicle morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
absent inner ear vestibule Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the absent inner ear vestibule phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
ear lobe hypoplasia Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the ear lobe hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal blood-inner ear barrier function Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal blood-inner ear barrier function phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
hearing/vestibular/ear phenotype Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the hearing/vestibular/ear phenotype phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal ear shape Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal ear shape phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal inner ear canal morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal inner ear canal morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal inner ear canal fusion Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal inner ear canal fusion phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal ear morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal ear morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal inner ear development Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal inner ear development phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
delayed ear emergence Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the delayed ear emergence phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal inner ear morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal inner ear morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
absent outer ear Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the absent outer ear phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
decreased ear pigmentation Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the decreased ear pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
fusion of middle ear ossicles Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the fusion of middle ear ossicles phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal inner ear vestibule morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal inner ear vestibule morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal ear lobe morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal ear lobe morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
absent inner ear Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the absent inner ear phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
inner ear hypoplasia Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the inner ear hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
ear telangiectases Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the ear telangiectases phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
ear inflammation Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the ear inflammation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
scalp-ear-nipple syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the scalp-ear-nipple syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
inner ear Gene SetFrom TISSUES Curated Tissue Protein Expression Evidence Scores proteins highly expressed in the tissue inner ear from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. |
ear Gene SetFrom TISSUES Curated Tissue Protein Expression Evidence Scores proteins highly expressed in the tissue ear from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. |
ear Gene SetFrom TISSUES Experimental Tissue Protein Expression Evidence Scores proteins highly expressed in the tissue ear in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset. |
inner ear Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue inner ear in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
corn ear Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue corn ear in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
inner ear vestibulum Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue inner ear vestibulum in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
middle ear Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue middle ear in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
outer ear Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue outer ear in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
ear Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores proteins co-occuring with the tissue ear in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. |
Ear Wax, Wet/Dry Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ear Wax, Wet/Dry in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ear, Patella, Short Stature Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ear, Patella, Short Stature Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Posteriorly Rotated Ear Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Posteriorly Rotated Ear in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Abnormality Of The Outer Ear Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Abnormality Of The Outer Ear in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Round Ear Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Round Ear in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ear Inflammation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ear Inflammation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Middle Ear Cholesteatoma Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Middle Ear Cholesteatoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Bat Ear Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Bat Ear in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autoimmune Inner Ear Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autoimmune Inner Ear Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dilated Vestibule Of The Inner Ear Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dilated Vestibule Of The Inner Ear in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Recurrent Infections Of The Middle Ear Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Recurrent Infections Of The Middle Ear in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Crumpled Ear Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Crumpled Ear in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Scalp-Ear-Nipple Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Scalp-Ear-Nipple Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cochleosaccular Degeneration Of The Inner Ear And Progressive Cataracts Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cochleosaccular Degeneration Of The Inner Ear And Progressive Cataracts in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Satyr Ear Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Satyr Ear in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Stahl Ear Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Stahl Ear in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neoplasm Of Middle Ear Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neoplasm Of Middle Ear in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Protruding Ear Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Protruding Ear in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Prominent Ear Helix Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Prominent Ear Helix in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abnormal Middle Ear Reflexes Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormal Middle Ear Reflexes in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Ear Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Ear in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Long Ear Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Long Ear in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Morphological Abnormality Of The Middle Ear Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Morphological Abnormality Of The Middle Ear in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abnormality Of The Middle Ear Ossicles Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormality Of The Middle Ear Ossicles 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. |
Ear Pain, Ctcae Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Ear Pain, Ctcae in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Ear Symptom Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Ear Symptom in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abnormality Of The Middle Ear Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormality Of The Middle Ear in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abnormal Ear Morphology Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormal Ear Morphology in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Morphological Abnormality Of The Inner Ear Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Morphological Abnormality Of The Inner Ear in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Thin Ear Helix Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Thin Ear Helix in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Thick Ear Helices Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Thick Ear Helices in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Fusion Of Middle Ear Ossicles Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Fusion Of Middle Ear Ossicles in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
inner ear receptor cell development Gene SetFrom GO Biological Process Annotations 2023 genes participating in the inner ear receptor cell development biological process from the curated GO Biological Process Annotations 2023 dataset. |
inner ear receptor cell stereocilium organization Gene SetFrom GO Biological Process Annotations 2023 genes participating in the inner ear receptor cell stereocilium organization biological process from the curated GO Biological Process Annotations 2023 dataset. |
ear morphogenesis Gene SetFrom GO Biological Process Annotations 2023 genes participating in the ear morphogenesis biological process from the curated GO Biological Process Annotations 2023 dataset. |
inner ear morphogenesis Gene SetFrom GO Biological Process Annotations 2023 genes participating in the inner ear morphogenesis biological process from the curated GO Biological Process Annotations 2023 dataset. |
outer ear morphogenesis Gene SetFrom GO Biological Process Annotations 2023 genes participating in the outer ear morphogenesis biological process from the curated GO Biological Process Annotations 2023 dataset. |
middle ear morphogenesis Gene SetFrom GO Biological Process Annotations 2023 genes participating in the middle ear morphogenesis biological process from the curated GO Biological Process Annotations 2023 dataset. |
inner ear receptor cell differentiation Gene SetFrom GO Biological Process Annotations 2023 genes participating in the inner ear receptor cell differentiation biological process from the curated GO Biological Process Annotations 2023 dataset. |
ear development Gene SetFrom GO Biological Process Annotations 2023 genes participating in the ear development biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of inner ear auditory receptor cell fate specification Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of inner ear auditory receptor cell fate specification biological process from the curated GO Biological Process Annotations 2023 dataset. |
inner ear auditory receptor cell differentiation Gene SetFrom GO Biological Process Annotations 2023 genes participating in the inner ear auditory receptor cell differentiation biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of inner ear auditory receptor cell differentiation Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of inner ear auditory receptor cell differentiation biological process from the curated GO Biological Process Annotations 2023 dataset. |
inner ear receptor cell fate commitment Gene SetFrom GO Biological Process Annotations 2023 genes participating in the inner ear receptor cell fate commitment biological process from the curated GO Biological Process Annotations 2023 dataset. |
abnormal outer ear morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal outer ear morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal middle ear ossicle morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal middle ear ossicle morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal ear position Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal ear position phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
absent outer ear Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the absent outer ear phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal middle ear morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal middle ear morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal outer ear cartilage morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal outer ear cartilage morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal inner ear morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal inner ear morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
inner ear cyst Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the inner ear cyst phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal inner ear vestibule morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal inner ear vestibule morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal inner ear canal fusion Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal inner ear canal fusion phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal ear development Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal ear development phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal ear pigmentation Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal ear pigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal ear morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal ear morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal ear physiology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal ear physiology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
lowered ear position Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the lowered ear position phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
absent middle ear ossicles Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the absent middle ear ossicles phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
absent inner ear vestibule Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the absent inner ear vestibule phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
delayed ear emergence Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the delayed ear emergence phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
decreased ear pigmentation Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased ear pigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
increased ear pigmentation Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the increased ear pigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal inner ear canal morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal inner ear canal morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
delayed inner ear development Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the delayed inner ear development phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
small middle ear ossicles Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the small middle ear ossicles phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal outer ear skin morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal outer ear skin morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
ear telangiectases Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the ear telangiectases phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
absent inner ear Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the absent inner ear phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
fusion of middle ear ossicles Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the fusion of middle ear ossicles phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
middle ear ossicle hypoplasia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the middle ear ossicle hypoplasia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
ear inflammation Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the ear inflammation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal blood-inner ear barrier function Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal blood-inner ear barrier function phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
outer ear hypoplasia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the outer ear hypoplasia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
middle ear polyps Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the middle ear polyps phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
middle ear effusion Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the middle ear effusion phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal ear shape Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal ear shape phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
inner ear hypoplasia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the inner ear hypoplasia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
ear lobe hypoplasia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the ear lobe hypoplasia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal middle ear epithelium morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal middle ear epithelium morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
increased middle ear goblet cell number Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the increased middle ear goblet cell number phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal outer ear helix morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal outer ear helix morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal inner ear development Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal inner ear development phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
hearing/vestibular/ear phenotype Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the hearing/vestibular/ear phenotype phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal ear position Gene SetFrom IMPC Knockout Mouse Phenotypes gene knockouts causing the abnormal ear position phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset. |
abnormal outer ear morphology Gene SetFrom IMPC Knockout Mouse Phenotypes gene knockouts causing the abnormal outer ear morphology phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset. |
abnormal ear morphology Gene SetFrom IMPC Knockout Mouse Phenotypes gene knockouts causing the abnormal ear morphology phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset. |
inner ear receptor cell development Gene SetFrom GO Biological Process Annotations 2025 genes participating in the inner ear receptor cell development biological process from the curated GO Biological Process Annotations 2025 dataset. |
inner ear receptor cell stereocilium organization Gene SetFrom GO Biological Process Annotations 2025 genes participating in the inner ear receptor cell stereocilium organization biological process from the curated GO Biological Process Annotations 2025 dataset. |
ear morphogenesis Gene SetFrom GO Biological Process Annotations 2025 genes participating in the ear morphogenesis biological process from the curated GO Biological Process Annotations 2025 dataset. |
inner ear morphogenesis Gene SetFrom GO Biological Process Annotations 2025 genes participating in the inner ear morphogenesis biological process from the curated GO Biological Process Annotations 2025 dataset. |
outer ear morphogenesis Gene SetFrom GO Biological Process Annotations 2025 genes participating in the outer ear morphogenesis biological process from the curated GO Biological Process Annotations 2025 dataset. |
middle ear morphogenesis Gene SetFrom GO Biological Process Annotations 2025 genes participating in the middle ear morphogenesis biological process from the curated GO Biological Process Annotations 2025 dataset. |
inner ear receptor cell differentiation Gene SetFrom GO Biological Process Annotations 2025 genes participating in the inner ear receptor cell differentiation biological process from the curated GO Biological Process Annotations 2025 dataset. |
ear development Gene SetFrom GO Biological Process Annotations 2025 genes participating in the ear development biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of inner ear auditory receptor cell fate specification Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of inner ear auditory receptor cell fate specification biological process from the curated GO Biological Process Annotations 2025 dataset. |
inner ear auditory receptor cell differentiation Gene SetFrom GO Biological Process Annotations 2025 genes participating in the inner ear auditory receptor cell differentiation biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of inner ear auditory receptor cell differentiation Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of inner ear auditory receptor cell differentiation biological process from the curated GO Biological Process Annotations 2025 dataset. |
inner ear receptor cell fate commitment Gene SetFrom GO Biological Process Annotations 2025 genes participating in the inner ear receptor cell fate commitment biological process from the curated GO Biological Process Annotations 2025 dataset. |
scalp-ear-nipple syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease scalp-ear-nipple syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Inner ear disease Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Inner ear disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. |
Middle ear disease Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Middle ear disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. |
Middle ear disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Middle ear disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Cholesteatoma of middle ear Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Cholesteatoma of middle ear in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Inner ear disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Inner ear disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autoimmune disease of eyes, ear, nose and throat Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autoimmune disease of eyes, ear, nose and throat in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Middle ear adenoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Middle ear adenoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Middle ear cancer Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Middle ear cancer in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Ear cancer Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ear cancer in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Middle ear adenocarcinoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Middle ear adenocarcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Middle ear carcinoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Middle ear carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
scalp-ear-nipple syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease scalp-ear-nipple syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Beach ear Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Beach ear in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Middle ear squamous cell carcinoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Middle ear squamous cell carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Inner ear cancer Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Inner ear cancer in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Inner ear Gene SetFrom TISSUES Curated Tissue Protein Expression Evidence Scores 2025 proteins highly expressed in the tissue Inner ear from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. |
Ear Gene SetFrom TISSUES Curated Tissue Protein Expression Evidence Scores 2025 proteins highly expressed in the tissue Ear from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. |
Ear Gene SetFrom TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 proteins highly expressed in the tissue Ear in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset. |
Inner ear Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Inner ear in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
Ear Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Ear in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
Inner ear vestibulum Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Inner ear vestibulum in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
Outer ear Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Outer ear in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
Middle ear Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Middle ear in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
Middle ear cell line Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Middle ear cell line in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
Middle ear squamous cell carcinoma cell Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Middle ear squamous cell carcinoma cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
Middle ear squamous cell carcinoma cell line Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Middle ear squamous cell carcinoma cell line in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
Corn ear Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Corn ear in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. |
Plant ear Gene SetFrom TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 proteins co-occuring with the tissue Plant ear in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression 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. |
Abnormality of the outer ear Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Abnormality of the outer ear phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Scalp-ear-nipple syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Scalp-ear-nipple syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Cholesteatoma of middle ear Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cholesteatoma of middle ear phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Ear protrusion Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Ear protrusion phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Ear morphology Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Ear morphology phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Childhood ear infection Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Childhood ear infection phenotype in GWAS datasets from the GWAS Catalog SNP-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. |
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. |
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. |
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. |
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. |
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. |
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 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 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. |
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. |
Ichthyosiform erythroderma, Brocq congenital, nonbullous form Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ichthyosiform erythroderma, Brocq congenital, nonbullous form from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, Autosomal Dominant 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Dominant 2 from the curated CTD Gene-Disease Associations dataset. |
Hernias, Diaphragmatic, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hernias, Diaphragmatic, Congenital from the curated CTD Gene-Disease Associations dataset. |
Congenital Disorder Of Glycosylation, Type IIF Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Disorder Of Glycosylation, Type IIF from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1A Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1A from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation, type 2C Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation, type 2C from the curated CTD Gene-Disease Associations dataset. |
Lethal Congenital Contracture Syndrome 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lethal Congenital Contracture Syndrome 2 from the curated CTD Gene-Disease Associations dataset. |
Aphakia, congenital primary Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Aphakia, congenital primary from the curated CTD Gene-Disease Associations dataset. |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities 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. |
Nystagmus 2, congenital, autosomal dominant Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nystagmus 2, congenital, autosomal dominant from the curated CTD Gene-Disease Associations dataset. |
Hypothyroidism, Congenital, Nongoitrous, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypothyroidism, Congenital, Nongoitrous, 3 from the curated CTD Gene-Disease Associations dataset. |
Congenital contractural arachnodactyly Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital contractural arachnodactyly from the curated CTD Gene-Disease Associations dataset. |
Lactase Deficiency, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lactase Deficiency, Congenital from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 2D Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 2D from the curated CTD Gene-Disease Associations dataset. |
Nystagmus 4, congenital, autosomal dominant Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nystagmus 4, congenital, autosomal dominant from the curated CTD Gene-Disease Associations dataset. |
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects from the curated CTD Gene-Disease Associations dataset. |
Anti-plasmin deficiency, congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anti-plasmin deficiency, congenital from the curated CTD Gene-Disease Associations dataset. |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq from the curated CTD Gene-Disease Associations dataset. |
Muscular dystrophy congenital, merosin negative Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular dystrophy congenital, merosin negative from the curated CTD Gene-Disease Associations dataset. |
Indifference to Pain, Congenital, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Indifference to Pain, Congenital, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
Ptosis, Hereditary Congenital 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ptosis, Hereditary Congenital 1 from the curated CTD Gene-Disease Associations dataset. |
Pain Insensitivity, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pain Insensitivity, Congenital from the curated CTD Gene-Disease Associations dataset. |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi from the curated CTD Gene-Disease Associations dataset. |
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1G Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1G from the curated CTD Gene-Disease Associations dataset. |
Congenital amegakaryocytic thrombocytopenia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital amegakaryocytic thrombocytopenia from the curated CTD Gene-Disease Associations dataset. |
Adrenal Hyperplasia, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Adrenal Hyperplasia, Congenital from the curated CTD Gene-Disease Associations dataset. |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B from the curated CTD Gene-Disease Associations dataset. |
Anemia, Hypoplastic, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anemia, Hypoplastic, Congenital from the curated CTD Gene-Disease Associations dataset. |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Cataracts, Facial Dysmorphism, And Neuropathy from the curated CTD Gene-Disease Associations dataset. |
Lipodystrophy, Congenital Generalized Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lipodystrophy, Congenital Generalized from the curated CTD Gene-Disease Associations dataset. |
Congenital hypertrichosis lanuginosa Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital hypertrichosis lanuginosa from the curated CTD Gene-Disease Associations dataset. |
Leber Congenital Amaurosis 10 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leber Congenital Amaurosis 10 from the curated CTD Gene-Disease Associations dataset. |
Hypothyroidism, Congenital, Nongoitrous, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypothyroidism, Congenital, Nongoitrous, 2 from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Congenital, Compton-North Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Congenital, Compton-North from the curated CTD Gene-Disease Associations dataset. |
Leber Congenital Amaurosis 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leber Congenital Amaurosis 3 from the curated CTD Gene-Disease Associations dataset. |
Congenital Disorder of Glycosylation, Type Io Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Disorder of Glycosylation, Type Io 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 central hypoventilation syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital central hypoventilation syndrome from the curated CTD Gene-Disease Associations dataset. |
Congenital Disorder Of Glycosylation, Type Im Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Disorder Of Glycosylation, Type Im from the curated CTD Gene-Disease Associations dataset. |
Congenital Disorder Of Glycosylation, Type In Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Disorder Of Glycosylation, Type In from the curated CTD Gene-Disease Associations dataset. |
Cataract, Congenital Zonular, with Sutural Opacities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cataract, Congenital Zonular, with Sutural Opacities from the curated CTD Gene-Disease Associations dataset. |
Lethal congenital contracture syndrome 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lethal congenital contracture syndrome 1 from the curated CTD Gene-Disease Associations dataset. |
Microcoria, congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Microcoria, congenital from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 from the curated CTD Gene-Disease Associations dataset. |
Anemia, Hemolytic, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anemia, Hemolytic, Congenital from the curated CTD Gene-Disease Associations dataset. |
Bile acid synthesis defect, congenital, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bile acid synthesis defect, congenital, 2 from the curated CTD Gene-Disease Associations dataset. |
Bile acid synthesis defect, congenital, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bile acid synthesis defect, congenital, 4 from the curated CTD Gene-Disease Associations dataset. |
Muscular Dystrophy, Congenital, 1B Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular Dystrophy, Congenital, 1B from the curated CTD Gene-Disease Associations dataset. |
Leber Congenital Amaurosis 14 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leber Congenital Amaurosis 14 from the curated CTD Gene-Disease Associations dataset. |
ADRENAL HYPOPLASIA, CONGENITAL Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ADRENAL HYPOPLASIA, CONGENITAL from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1H Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1H from the curated CTD Gene-Disease Associations dataset. |
Ptosis, Hereditary Congenital 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ptosis, Hereditary Congenital 2 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 from the curated CTD Gene-Disease Associations dataset. |
Diarrhea 4, Malabsorptive, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Diarrhea 4, Malabsorptive, Congenital from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1J Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1J from the curated CTD Gene-Disease Associations dataset. |
CAPILLARY MALFORMATIONS, CONGENITAL Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CAPILLARY MALFORMATIONS, CONGENITAL from the curated CTD Gene-Disease Associations dataset. |
Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1B Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1B from the curated CTD Gene-Disease Associations dataset. |
Nephrosis, congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nephrosis, congenital from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, Autosomal Dominant 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Dominant 1 from the curated CTD Gene-Disease Associations dataset. |
GLAUCOMA 3, PRIMARY CONGENITAL, C Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease GLAUCOMA 3, PRIMARY CONGENITAL, C from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 2A Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 2A from the curated CTD Gene-Disease Associations dataset. |
ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 2E Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 2E from the curated CTD Gene-Disease Associations dataset. |
Muscular Dystrophy, Congenital, Merosin-Positive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular Dystrophy, Congenital, Merosin-Positive from the curated CTD Gene-Disease Associations dataset. |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip from the curated CTD Gene-Disease Associations dataset. |
Myopathies, Structural, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathies, Structural, Congenital from the curated CTD Gene-Disease Associations dataset. |
Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism from the curated CTD Gene-Disease Associations dataset. |
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 from the curated CTD Gene-Disease Associations dataset. |
Bile acid synthesis defect, congenital, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bile acid synthesis defect, congenital, 1 from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1F Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1F from the curated CTD Gene-Disease Associations dataset. |
Cataract, Autosomal Recessive Congenital 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cataract, Autosomal Recessive Congenital 3 from the curated CTD Gene-Disease Associations dataset. |
Congenital myasthenic syndrome with episodic apnea Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital myasthenic syndrome with episodic apnea from the curated CTD Gene-Disease Associations dataset. |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj from the curated CTD Gene-Disease Associations dataset. |
Preauricular Fistulae, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Preauricular Fistulae, Congenital from the curated CTD Gene-Disease Associations dataset. |
Leber Congenital Amaurosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leber Congenital Amaurosis from the curated CTD Gene-Disease Associations dataset. |
Lower Extremity Deformities, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lower Extremity Deformities, Congenital from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay from the curated CTD Gene-Disease Associations dataset. |
NYSTAGMUS 5, CONGENITAL, X-LINKED Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NYSTAGMUS 5, CONGENITAL, X-LINKED from the curated CTD Gene-Disease Associations dataset. |
Night blindness, congenital stationary Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Night blindness, congenital stationary from the curated CTD Gene-Disease Associations dataset. |
Fibrosis of Extraocular Muscles, Congenital, 3B Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Fibrosis of Extraocular Muscles, Congenital, 3B from the curated CTD Gene-Disease Associations dataset. |
Sucrase-isomaltase deficiency, congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Sucrase-isomaltase deficiency, congenital from the curated CTD Gene-Disease Associations dataset. |
Congenital myasthenic syndrome ib Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital myasthenic syndrome ib from the curated CTD Gene-Disease Associations dataset. |
Polycythemia, primary familial and congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Polycythemia, primary familial and congenital from the curated CTD Gene-Disease Associations dataset. |
Marie Unna congenital hypotrichosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Marie Unna congenital hypotrichosis from the curated CTD Gene-Disease Associations dataset. |
NYSTAGMUS 6, CONGENITAL, X-LINKED Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NYSTAGMUS 6, CONGENITAL, X-LINKED from the curated CTD Gene-Disease Associations dataset. |
Nystagmus 3, congenital, autosomal dominant Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nystagmus 3, congenital, autosomal dominant from the curated CTD Gene-Disease Associations dataset. |
Leber Congenital Amaurosis 12 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leber Congenital Amaurosis 12 from the curated CTD Gene-Disease Associations dataset. |
Leber Congenital Amaurosis 13 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leber Congenital Amaurosis 13 from the curated CTD Gene-Disease Associations dataset. |
Congenital atransferrinemia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital atransferrinemia from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type II Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type II from the curated CTD Gene-Disease Associations dataset. |
Fibrosis Of Extraocular Muscles, Congenital, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Fibrosis Of Extraocular Muscles, Congenital, 2 from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, X-Linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, X-Linked from the curated CTD Gene-Disease Associations dataset. |
ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR from the curated CTD Gene-Disease Associations dataset. |
RETT SYNDROME, CONGENITAL VARIANT Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease RETT SYNDROME, CONGENITAL VARIANT from the curated CTD Gene-Disease Associations dataset. |
Myasthenic syndrome, congenital, postsynaptic slow-channel Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myasthenic syndrome, congenital, postsynaptic slow-channel from the curated CTD Gene-Disease Associations dataset. |
Nystagmus, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nystagmus, Congenital from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1K Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1K from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1L Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1L from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1C Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1C from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1E Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1E from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1D Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1D from the curated CTD Gene-Disease Associations dataset. |
Myasthenic Syndromes, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myasthenic Syndromes, Congenital from the curated CTD Gene-Disease Associations dataset. |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A from the curated CTD Gene-Disease Associations dataset. |
Corneal Dystrophy, Congenital Stromal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Corneal Dystrophy, Congenital Stromal from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 from the curated CTD Gene-Disease Associations dataset. |
Hand Deformities, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hand Deformities, Congenital from the curated CTD Gene-Disease Associations dataset. |
PROTHROMBIN DEFICIENCY, CONGENITAL Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease PROTHROMBIN DEFICIENCY, CONGENITAL from the curated CTD Gene-Disease Associations dataset. |
LEBER CONGENITAL AMAUROSIS 15 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease LEBER CONGENITAL AMAUROSIS 15 from the curated CTD Gene-Disease Associations dataset. |
Diarrhea 3, Secretory Sodium, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Diarrhea 3, Secretory Sodium, Congenital from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation, type 2G Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation, type 2G from the curated CTD Gene-Disease Associations dataset. |
Limb Deformities, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Limb Deformities, Congenital from the curated CTD Gene-Disease Associations dataset. |
Pancreatic Agenesis, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pancreatic Agenesis, Congenital from the curated CTD Gene-Disease Associations dataset. |
Hypertrichosis congenital generalized X-linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypertrichosis congenital generalized X-linked from the curated CTD Gene-Disease Associations dataset. |
Nail dysplasia, isolated congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nail dysplasia, isolated congenital from the curated CTD Gene-Disease Associations dataset. |