Name

OPEM Gene

ophthalmoplegia, external, with myopia

TST1 Gene

Tuberculin skin test reactivity, absence of

ECA1 Gene

epilepsy, childhood absence 1

MCOPCT1 Gene

cataract, congenital, with microphthalmia

CFTDX Gene

Myopathy, congenital, with fiber-type disproportion, X-linked

NPHS1 Gene

nephrosis 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 Gene

Cataract, congenital cerulean type, 5

CTRCT34 Gene

Cataract, autosomal recessive congenital 3

CTRCT35 Gene

cataract, congenital nuclear, autosomal recessive

BSCL2 Gene

Berardinelli-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 Gene

hypertrichosis 1 (universalis, congenital)

HTC2 Gene

hypertrichosis 2 (generalized, congenital)

RNANC Gene

Retinal nonattachment, nonsyndromic congenital

NHS Gene

Nance-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 Gene

Muscular dystrophy, congenital, 1B

CDAN3 Gene

congenital dyserythropoietic anemia, type III

LCA5L Gene

Leber 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 Gene

Nail disorder, nonsyndromic congenital, 9

NYS2 Gene

nystagmus 2, congenital autosomal dominant

NYS3 Gene

nystagmus 3, congenital autosomal dominant

NYS7 Gene

Nystagmus 7, congenital

NYS4 Gene

nystagmus 4, congenital autosomal dominant

NDIC Gene

Nail dysplasia, isolated congenital

CTRCT27 Gene

Cataract, congenital, nuclear progressive

PTOS2 Gene

Ptosis, hereditary congenital 2

PTOS1 Gene

ptosis, congenital 1 (autosomal dominant)

GLC3C Gene

glaucoma 3, primary congenital, C

SMAL Gene

spinal muscular atrophy, congenital nonprogressive, of lower limbs

ANIC Gene

Anosmia, isolated congenital

CHDT3 Gene

Congenital heart defects, multiple types, 3

MDCMP Gene

muscular dystrophy, congenital, merosin-positive

CHNG3 Gene

Hypothyroidism, congenital, nongoitrous, 3

LCA5 Gene

Leber 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 Gene

cataract, congenital, cerulean type, 1

CCT Gene

cataract, congenital, total

CCV Gene

cataract, congenital, Volkmann type

MCOR Gene

microcoria, congenital

DIH2 Gene

Hernia, congenital diaphragmatic 2

ARCI9 Gene

Ichthyosis, congenital, autosomal recessive 9

ARCI7 Gene

Ichthyosis, congenital, autosomal recessive 7

PAFC Gene

Preauricular fistulae, congenital

Congenital Absence Of External Ear Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From GAD Gene-Disease Associations

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

acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body weight; congenital heart defects; growth disorders; heart defects, congenital Gene Set

From 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 Set

From 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 Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; coloboma; congenital heart defects; disease models, animal; facial paralysis; heart defects, congenital; syndrome Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ulna and fibula absence of with severe limb deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dominant dystrophic epidermolysis bullosa with absence of skin Gene Set

From 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 Set

From CORUM Protein Complexes

proteins in the (ER)-localized multiprotein complex, in absence of Ig heavy chains protein complex from the CORUM Protein Complexes dataset.

Absence of Tibia Gene Set

From CTD Gene-Disease Associations

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

Epilepsy, Absence Gene Set

From CTD Gene-Disease Associations

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

juvenile absence epilepsy Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From Reactome Pathways 2014

proteins 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 Set

From Reactome Pathways 2014

proteins participating in the Abortive elongation of HIV-1 transcript in the absence of Tat pathway from the Reactome Pathways dataset.

Absence Epilepsy Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From Reactome Pathways 2024

proteins 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 Set

From Reactome Pathways 2024

proteins 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 Set

From Reactome Pathways 2024

proteins 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Scalp ear nipple syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ear Diseases Gene Set

From CTD Gene-Disease Associations

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

inner ear disease Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From MPO Gene-Phenotype Associations

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

ear inflammation Gene Set

From 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 Set

From OMIM Gene-Disease Associations

genes associated with the scalp-ear-nipple syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

inner ear Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From DisGeNET Gene-Disease Associations

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

Cochleosaccular Degeneration Of The Inner Ear And Progressive Cataracts Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital erythropoietic porphyria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

congenital neutropenia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the congenital neutropenia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypothyroidism, congenital, nongoitrous, 1 Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

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

Bile acid synthesis defect, congenital, 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Congenital disorder of glycosylation type 1F Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

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

Muscular dystrophy, congenital, due to ITGA7 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Anti-plasmin deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Prothrombin deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

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

Severe congenital neutropenia 2, autosomal dominant Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital aniridia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital long QT syndrome Gene Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy due to partial LAMA2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Multiple congenital exostosis Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leber congenital amaurosis 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract, congenital Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From CTD Gene-Disease Associations

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

Congenital Hypothyroidism Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From CTD Gene-Disease Associations

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

Nystagmus 2, congenital, autosomal dominant Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From CTD Gene-Disease Associations

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

Congenital central hypoventilation syndrome Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From CTD Gene-Disease Associations

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

Bile acid synthesis defect, congenital, 4 Gene Set

From CTD Gene-Disease Associations

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

Muscular Dystrophy, Congenital, 1B Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From CTD Gene-Disease Associations

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

Congenital disorder of glycosylation type 1F Gene Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From 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 Set

From CTD Gene-Disease Associations

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