Name

Acromegaloid features, overgrowth, cleft palate, and hernia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Acromegaloid features, overgrowth, cleft palate, and hernia from the curated CTD Gene-Disease Associations dataset.

acromegaloid features, overgrowth, cleft palate, and hernia Gene Set

From OMIM Gene-Disease Associations

genes associated with the acromegaloid features, overgrowth, cleft palate, and hernia phenotype from the curated OMIM Gene-Disease Associations dataset.

cleft lip with cleft palate; cleft lip without cleft palate; cleft palate Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cleft lip with cleft palate; cleft lip without cleft palate; cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cleft lip with cleft palate; cleft lip without cleft palate; cleft lip Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cleft lip with cleft palate; cleft lip without cleft palate; cleft lip in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hiv; tuberculosis; cleft lip with cleft palate; cleft lip without cleft palate Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hiv; tuberculosis; cleft lip with cleft palate; cleft lip without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cleft lip with cleft palate; cleft lip without cleft palate Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cleft lip with cleft palate; cleft lip without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

thromboembolism, venous; heart anomalies, congenital; neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate; omphalocele Gene Set

From GAD Gene-Disease Associations

genes associated with the disease thromboembolism, venous; heart anomalies, congenital; neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate; omphalocele in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart anomalies, congenital; cleft lip with cleft palate; cleft lip without cleft palate Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart anomalies, congenital; cleft lip with cleft palate; cleft lip without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cleft lip with or without cleft palate; cleft palate, isolated Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cleft lip with or without cleft palate; cleft palate, isolated in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

colorectal cancer; tourette syndrome; bone density; pregnancy loss, recurrent; cleft lip without cleft palate; juvenile polyposis; cleft palate Gene Set

From GAD Gene-Disease Associations

genes associated with the disease colorectal cancer; tourette syndrome; bone density; pregnancy loss, recurrent; cleft lip without cleft palate; juvenile polyposis; cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cleft lip without cleft palate; cleft palate Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cleft lip without cleft palate; cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cleft lip; cleft palate; dental enamel hypoplasia; enamel, hypoplastic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cleft lip; cleft palate; dental enamel hypoplasia; enamel, hypoplastic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cleft lip; cleft palate; syndrome Gene Set

From GAD Gene-Disease Associations

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

cleft lip; cleft palate; Gene Set

From GAD Gene-Disease Associations

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

chromosome aberrations; chromosome abnormality; cleft lip; cleft palate Gene Set

From GAD Gene-Disease Associations

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

cleft lip; cleft palate; congenital abnormalities Gene Set

From GAD Gene-Disease Associations

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

cleft lip with or without cleft palate Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cleft lip with or without cleft palate 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.

nonsyndromic cleft lipor without cleft palate Gene Set

From GAD Gene-Disease Associations

genes associated with the disease nonsyndromic cleft lipor without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hypodontia; cleft lip; cleft palate; genetic diseases, inborn Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hypodontia; cleft lip; cleft palate; genetic diseases, inborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cleft lip; cleft palate; prenatal exposure delayed effects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cleft lip; cleft palate; prenatal exposure delayed effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital anomalies; cleft lip with or without cleft palate Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital anomalies; cleft lip with or without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cleft lip; cleft palate; mouth abnormalities Gene Set

From GAD Gene-Disease Associations

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

cleft lip; cleft palate; tooth abnormalities Gene Set

From GAD Gene-Disease Associations

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

cleft lip; cleft palate Gene Set

From GAD Gene-Disease Associations

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

abnormalities, drug-induced; cleft lip; cleft palate Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, drug-induced; cleft lip; cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cleft palate; cleft lip Gene Set

From GAD Gene-Disease Associations

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

nonsyndromic cleft lip with or without cleft palate Gene Set

From GAD Gene-Disease Associations

genes associated with the disease nonsyndromic cleft lip with or without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome breakage; cleft lip; cleft palate; translocation, genetic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome breakage; cleft lip; cleft palate; translocation, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

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

From GAD Gene-Disease Associations

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

Cleft Lip With Or Without Cleft Palate Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Cleft Lip With Or Without Cleft Palate in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Nonsyndromic Cleft Lip With Or Without Cleft Palate Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Nonsyndromic Cleft Lip With Or Without Cleft Palate in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Cleft Lip +/- Cleft Palate Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Cleft Lip +/- Cleft Palate phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Nonsyndromic cleft lip with cleft palate Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Nonsyndromic cleft lip with cleft palate phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Nonsyndromic cleft lip with or without cleft palate Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Nonsyndromic cleft lip with or without cleft palate phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Cleft lip with or without cleft palate x maternal periconceptional alcohol use interaction (parent of origin effect) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Cleft lip with or without cleft palate x maternal periconceptional alcohol use interaction (parent of origin effect) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Cleft lip with or without cleft palate x maternal periconceptional smoking interaction (parent of origin effect) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Cleft lip with or without cleft palate x maternal periconceptional smoking interaction (parent of origin effect) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Cleft lip with or without cleft palate x maternal periconceptional vitamin use interaction (parent of origin effect) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Cleft lip with or without cleft palate x maternal periconceptional vitamin use interaction (parent of origin effect) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Nonsyndromic cleft lip with or without cleft palate x sex interaction (2df test) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Nonsyndromic cleft lip with or without cleft palate x sex interaction (2df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Cleft lip with or without cleft palate (maternal periconceptional vitamin use interaction) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Cleft lip with or without cleft palate (maternal periconceptional vitamin use interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Cleft lip with or without cleft palate (maternal periconceptional alcohol intake interaction) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Cleft lip with or without cleft palate (maternal periconceptional alcohol intake interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Coloboma, uveal, with cleft lip and palate and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coloboma, uveal, with cleft lip and palate and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Acromegaloid Facial Appearance Syndrome Gene Set

From DisGeNET Gene-Disease Associations

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

Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microtia, hearing impairment, and cleft palate Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microtia, hearing impairment, and cleft palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

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

From ClinVar Gene-Phenotype Associations

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

Microtia, Hearing Impairment, And Cleft Palate Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microtia, Hearing Impairment, And Cleft Palate from the curated CTD Gene-Disease Associations dataset.

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

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

Cleft Palate, Isolated, And Mental Retardation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cleft Palate, Isolated, And Mental Retardation from the curated CTD Gene-Disease Associations dataset.

cleft lip and palate Gene Set

From GAD Gene-Disease Associations

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

non-syndromic cleft lip and palate Gene Set

From GAD Gene-Disease Associations

genes associated with the disease non-syndromic cleft lip and palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cleft palate and calvaria defects. Gene Set

From GAD Gene-Disease Associations

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

bilateral cleft lip and palate Gene Set

From HPO Gene-Disease Associations

genes associated with the bilateral cleft lip and palate phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

median cleft lip and palate Gene Set

From HPO Gene-Disease Associations

genes associated with the median cleft lip and palate phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Cleft lip and palate transmembrane 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cleft lip and palate transmembrane 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cleft lip and palate transmembrane protein 1-like protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cleft lip and palate transmembrane protein 1-like protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

?microtia, hearing impairment, and cleft palate (ar) Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?microtia, hearing impairment, and cleft palate (ar) phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

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

gastric cancer, familial diffuse, with or without cleft lip and/or palate Gene Set

From OMIM Gene-Disease Associations

genes associated with the gastric cancer, familial diffuse, with or without cleft lip and/or palate phenotype from the curated OMIM Gene-Disease Associations dataset.

coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation Gene Set

From OMIM Gene-Disease Associations

genes associated with the coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset.

Median Cleft Lip And Palate Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Median Cleft Lip And Palate in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Ankyloblepharon Filiforme Adnatum And Cleft Palate Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Ankyloblepharon Filiforme Adnatum And Cleft Palate in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Holoprosencephaly, Ectrodactyly, And Bilateral Cleft Lip-Palate Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Holoprosencephaly, Ectrodactyly, And Bilateral Cleft Lip-Palate in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hydronephrosis, Congenital, With Cleft Palate, Characteristic Facies, Hypotonia, And Mental Retardation Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hydronephrosis, Congenital, With Cleft Palate, Characteristic Facies, Hypotonia, And Mental Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Microtia, Hearing Impairment, And Cleft Palate Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Microtia, Hearing Impairment, And Cleft Palate 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.

Cardiac Malformation, Cleft Lip-Palate, Microcephaly And Digital Anomalies Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Cardiac Malformation, Cleft Lip-Palate, Microcephaly And Digital Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Coloboma, Cleft Lip-Palate And Mental Retardation Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Coloboma, Cleft Lip-Palate And Mental Retardation Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

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

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

genes co-occuring with the disease ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Uveal coloboma-cleft lip and palate-intellectual disability Gene Set

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

genes co-occuring with the disease Uveal coloboma-cleft lip and palate-intellectual disability in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 Gene Set

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

genes co-occuring with the disease ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Cleft palate, cardiac defects, and intellectual disabillity Gene Set

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

genes co-occuring with the disease Cleft palate, cardiac defects, and intellectual disabillity in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Uveal coloboma-cleft lip and palate-intellectual disability Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Uveal coloboma-cleft lip and palate-intellectual disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Cleft palate with ankyloglossia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cleft palate with ankyloglossia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cleft Palate Gene Set

From CTD Gene-Disease Associations

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

Ectrodactyly-cleft lip/palate syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectrodactyly-cleft lip/palate syndrome from the curated CTD Gene-Disease Associations dataset.

Cleft palate X-linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cleft palate X-linked from the curated CTD Gene-Disease Associations dataset.

Ankyloblepharon filiforme adnatum cleft palate Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ankyloblepharon filiforme adnatum cleft palate from the curated CTD Gene-Disease Associations dataset.

Cleft Palate Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Cleft Palate in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

cleft palate Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

cleft palate; syndrome Gene Set

From GAD Gene-Disease Associations

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

hypothyroidism; cleft palate, isolated; thyroid agenesis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hypothyroidism; cleft palate, isolated; thyroid agenesis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cleft palate Gene Set

From GAD Gene-Disease Associations

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

cleft palate; hypothyroidism Gene Set

From GAD Gene-Disease Associations

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

cleft palate; prenatal exposure delayed effects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cleft palate; prenatal exposure delayed effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cleft palate; tongue diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cleft palate; tongue diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cleft soft palate Gene Set

From HPO Gene-Disease Associations

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

submucous cleft soft palate Gene Set

From HPO Gene-Disease Associations

genes associated with the submucous cleft soft palate phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

cleft palate Gene Set

From HPO Gene-Disease Associations

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

bilateral cleft palate Gene Set

From HPO Gene-Disease Associations

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

non-midline cleft palate Gene Set

From HPO Gene-Disease Associations

genes associated with the non-midline cleft palate phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

median cleft palate Gene Set

From HPO Gene-Disease Associations

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

cleft hard palate Gene Set

From HPO Gene-Disease Associations

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

unilateral cleft palate Gene Set

From HPO Gene-Disease Associations

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

cleft secondary palate Gene Set

From HPO Gene-Disease Associations

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

submucous cleft hard palate Gene Set

From HPO Gene-Disease Associations

genes associated with the submucous cleft hard palate phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Cleft Palate Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

cleft palate Gene Set

From MPO Gene-Phenotype Associations

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

cleft primary palate Gene Set

From MPO Gene-Phenotype Associations

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

cleft secondary palate Gene Set

From MPO Gene-Phenotype Associations

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

submucous cleft palate Gene Set

From MPO Gene-Phenotype Associations

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

cleft lip/palate-ectodermal dysplasia syndrome Gene Set

From OMIM Gene-Disease Associations

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

cleft palate with ankyloglossia Gene Set

From OMIM Gene-Disease Associations

genes associated with the cleft palate with ankyloglossia phenotype from the curated OMIM Gene-Disease Associations dataset.

cleft palate, isolated Gene Set

From OMIM Gene-Disease Associations

genes associated with the cleft palate, isolated phenotype from the curated OMIM Gene-Disease Associations dataset.

Cleft Palate Gene Set

From DisGeNET Gene-Disease Associations

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

Submucous Cleft Of Hard Palate Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Submucous Cleft Of Hard Palate in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Median Cleft Palate Gene Set

From DisGeNET Gene-Disease Associations

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

Unilateral Cleft Palate Gene Set

From DisGeNET Gene-Disease Associations

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

Cleft Palate-Lateral Synechia Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Cleft Palate-Lateral Synechia Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cleft Soft Palate Gene Set

From DisGeNET Gene-Disease Associations

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

Submucous Cleft Palate Gene Set

From DisGeNET Gene-Disease Associations

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

Submucous Cleft Soft Palate Gene Set

From DisGeNET Gene-Disease Associations

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

Cleft Palate With Ankyloglossia Gene Set

From DisGeNET Gene-Disease Associations

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

Cleft Palate Alone Gene Set

From DisGeNET Gene-Disease Associations

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

Bilateral Cleft Palate Gene Set

From DisGeNET Gene-Phenotype Associations

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

Cleft Palate Gene Set

From DisGeNET Gene-Phenotype Associations

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

cleft palate Gene Set

From MGI Mouse Phenotype Associations 2023

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

cleft secondary palate Gene Set

From MGI Mouse Phenotype Associations 2023

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

cleft primary palate Gene Set

From MGI Mouse Phenotype Associations 2023

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

median cleft palate Gene Set

From MGI Mouse Phenotype Associations 2023

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

bilateral cleft palate Gene Set

From MGI Mouse Phenotype Associations 2023

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

unilateral cleft palate Gene Set

From MGI Mouse Phenotype Associations 2023

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

complete cleft palate Gene Set

From MGI Mouse Phenotype Associations 2023

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

anterior cleft palate Gene Set

From MGI Mouse Phenotype Associations 2023

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

cleft hard palate Gene Set

From MGI Mouse Phenotype Associations 2023

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

submucous cleft palate Gene Set

From MGI Mouse Phenotype Associations 2023

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

cleft soft palate Gene Set

From MGI Mouse Phenotype Associations 2023

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

cleft palate Gene Set

From IMPC Knockout Mouse Phenotypes

gene knockouts causing the cleft palate phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.

ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease ankyloblepharon-ectodermal defects-cleft lip/palate syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Cleft palate Gene Set

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

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

ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Gene Set

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

genes co-occuring with the disease ankyloblepharon-ectodermal defects-cleft lip/palate syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Cleft palate-lateral synechia syndrome Gene Set

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

genes co-occuring with the disease Cleft palate-lateral synechia syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Cleft lip-palate-ectodermal dysplasia syndrome Gene Set

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

genes co-occuring with the disease Cleft lip-palate-ectodermal dysplasia syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Cleft soft palate Gene Set

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

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

Isolated cleft palate Gene Set

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

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

X-linked cleft palate with or without ankyloglossia Gene Set

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

genes co-occuring with the disease X-linked cleft palate with or without ankyloglossia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Cleft palate Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Cleft lip/palate Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Cleft lip/palate phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Isolated cleft palate Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Isolated cleft palate phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Cholestasis-pigmentary retinopathy-cleft palate syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Cholestasis-pigmentary retinopathy-cleft palate syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Cleft lip/palate-ectodermal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Cleft lip/palate-ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Bilateral microtia-deafness-cleft palate syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Bilateral microtia-deafness-cleft palate syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Bilateral cleft palate Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Bilateral cleft palate phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Nonsyndromic cleft palate Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Nonsyndromic cleft palate phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Cleft palate Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Cleft palate phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

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

From ClinVar Gene-Phenotype Associations 2025

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

Mental retardation with language impairment and autistic features Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation with language impairment and autistic features phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES from the curated CTD Gene-Disease Associations dataset.

Schizophrenia and Disorders with Psychotic Features Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Schizophrenia and Disorders with Psychotic Features from the curated CTD Gene-Disease Associations dataset.

pituitary anomalies and holoprosencephaly-like features. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease pituitary anomalies and holoprosencephaly-like features. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

mental retardation with language impairment and autistic features Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation with language impairment and autistic features phenotype from the curated OMIM Gene-Disease Associations dataset.

mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

Andibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Andibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Physico chemical features and toxicity associated pathways Gene Set

From WikiPathways Pathways 2024

proteins participating in the Physico chemical features and toxicity associated pathways pathway from the WikiPathways Pathways 2024 dataset.

Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder Gene Set

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

genes co-occuring with the disease Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Intellectual developmental disorder with ocular anomalies and distinctive facial features Gene Set

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

genes co-occuring with the disease Intellectual developmental disorder with ocular anomalies and distinctive facial features in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Impaired intellectual development and distinctive facial features Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Impaired intellectual development and distinctive facial features phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Microcephaly, hiatal hernia and nephrotic syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, hiatal hernia and nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

gingival overgrowth Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

gingival overgrowth Gene Set

From GAD Gene-Disease Associations

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

gingival overgrowth, drug induced Gene Set

From GAD Gene-Disease Associations

genes associated with the disease gingival overgrowth, drug induced in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

overgrowth Gene Set

From GeneRIF Biological Term Annotations

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

fibular overgrowth Gene Set

From HPO Gene-Disease Associations

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

gingival overgrowth Gene Set

From HPO Gene-Disease Associations

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

overgrowth Gene Set

From HPO Gene-Disease Associations

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

alveolar ridge overgrowth Gene Set

From HPO Gene-Disease Associations

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

proximal fibular overgrowth Gene Set

From HPO Gene-Disease Associations

genes associated with the proximal fibular overgrowth 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.

Gingival Overgrowth Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Kosaki Overgrowth Syndrome Gene Set

From DisGeNET Gene-Disease Associations

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

Pik3Ca Related Overgrowth Spectrum Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Pik3Ca Related Overgrowth Spectrum in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Small Intestinal Bacterial Overgrowth Gene Set

From DisGeNET Gene-Disease Associations

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

Malan Overgrowth Syndrome Gene Set

From DisGeNET Gene-Disease Associations

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

Overgrowth Syndrome Gene Set

From DisGeNET Gene-Disease Associations

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

15Q Overgrowth Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease 15Q Overgrowth Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Pik3Ca Related Overgrowth Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Pik3Ca Related Overgrowth Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Gingival Overgrowth Gene Set

From DisGeNET Gene-Phenotype Associations

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

Overgrowth Gene Set

From DisGeNET Gene-Phenotype Associations

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

Proximal Fibular Overgrowth Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Proximal Fibular Overgrowth 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.

Fibular Overgrowth Gene Set

From DisGeNET Gene-Phenotype Associations

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

Alveolar Ridge Overgrowth Gene Set

From DisGeNET Gene-Phenotype Associations

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

Congenital Overgrowth Of Lower Limb Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Congenital Overgrowth Of Lower Limb in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Gingival overgrowth Gene Set

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

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

KRAS-related overgrowth Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the KRAS-related overgrowth phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

PIK3CA related overgrowth syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the PIK3CA related overgrowth syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

PIK3CA-Related Overgrowth Spectrum Disorders Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the PIK3CA-Related Overgrowth Spectrum Disorders phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

PIK3CA overgrowth syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the PIK3CA overgrowth syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

PIK3CA-related overgrowth Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the PIK3CA-related overgrowth phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Tatton-Brown-Rahman overgrowth syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Tatton-Brown-Rahman overgrowth syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Malan overgrowth syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Malan overgrowth syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Gingival overgrowth Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Overgrowth syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Diabetes mellitus, permanent neonatal, with neurologic features Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Diabetes mellitus, permanent neonatal, with neurologic features phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lymphoblastic Leukemia, Acute, with Lymphomatous Features Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lymphoblastic Leukemia, Acute, with Lymphomatous Features from the curated CTD Gene-Disease Associations dataset.

Spongiform Encephalopathy with Neuropsychiatric Features Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spongiform Encephalopathy with Neuropsychiatric Features from the curated CTD Gene-Disease Associations dataset.

features of the insulin resistance syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease features of the insulin resistance syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

clinicopathological features Gene Set

From GAD Gene-Disease Associations

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

features Gene Set

From GeneRIF Biological Term Annotations

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

Borderline personality disorder features Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Borderline personality disorder features phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Urinary metabolites (H-NMR features) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Urinary metabolites (H-NMR features) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

coarse facial features Gene Set

From HPO Gene-Disease Associations

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

diabetes mellitus, permanent neonatal, with neurologic features Gene Set

From OMIM Gene-Disease Associations

genes associated with the diabetes mellitus, permanent neonatal, with neurologic features phenotype from the curated OMIM Gene-Disease Associations dataset.

dystonia, early-onset atypical, with myoclonic features Gene Set

From OMIM Gene-Disease Associations

genes associated with the dystonia, early-onset atypical, with myoclonic features phenotype from the curated OMIM Gene-Disease Associations dataset.

Dysmorphic Features Gene Set

From DisGeNET Gene-Disease Associations

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

Thyroid Gland Noninvasive Follicular Neoplasm With Papillary-Like Nuclear Features Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Thyroid Gland Noninvasive Follicular Neoplasm With Papillary-Like Nuclear Features in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Severe Major Depression With Psychotic Features Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Severe Major Depression With Psychotic Features in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Breast Carcinoma With Choriocarcinomatous Features Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Breast Carcinoma With Choriocarcinomatous Features in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Pituitary Anomalies With Holoprosencephaly-Like Features (Disorder) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Pituitary Anomalies With Holoprosencephaly-Like Features (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Spongiform Encephalopathy With Neuropsychiatric Features Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Spongiform Encephalopathy With Neuropsychiatric Features in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Coarse Facial Features Gene Set

From DisGeNET Gene-Phenotype Associations

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

Facial Features Gene Set

From DisGeNET Gene-Phenotype Associations

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

Mild Dysmorphic Features Gene Set

From DisGeNET Gene-Phenotype Associations

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

Coarse Features Gene Set

From DisGeNET Gene-Phenotype Associations

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

coarse facial features Gene Set

From MGI Mouse Phenotype Associations 2023

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

high-grade astrocytoma with piloid features Gene Set

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

genes co-occuring with the disease high-grade astrocytoma with piloid features in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Dysmorphic features Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Progeroid features-hepatocellular carcinoma predisposition syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Progeroid features-hepatocellular carcinoma predisposition syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Severe aortic features in Marfan syndrome Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Severe aortic features in Marfan syndrome phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Urinary metabolites (H-NMR features) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Urinary metabolites (H-NMR features) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Borderline personality disorder features Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Borderline personality disorder features phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

robin sequence with cleft mandible and limb anomalies Gene Set

From OMIM Gene-Disease Associations

genes associated with the robin sequence with cleft mandible and limb anomalies phenotype from the curated OMIM Gene-Disease Associations dataset.

Diaphragmatic hernia 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Diaphragmatic hernia 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Diaphragmatic Hernia 2 Gene Set

From CTD Gene-Disease Associations

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

Hernia, Diaphragmatic Gene Set

From CTD Gene-Disease Associations

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

Hernia, Ventral Gene Set

From CTD Gene-Disease Associations

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

Hernia, Umbilical Gene Set

From CTD Gene-Disease Associations

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

Hernia, Inguinal Gene Set

From CTD Gene-Disease Associations

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

Diaphragmatic Hernia 3 Gene Set

From CTD Gene-Disease Associations

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

congenital diaphragmatic hernia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease congenital diaphragmatic hernia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

hiatus hernia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

congenital diaphragmatic hernia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

barrett esophagus; hernia, hiatal; inflammation Gene Set

From GAD Gene-Disease Associations

genes associated with the disease barrett esophagus; hernia, hiatal; inflammation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diaphragmatic hernia Gene Set

From GAD Gene-Disease Associations

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

gastroesophageal reflux; hernia, hiatal Gene Set

From GAD Gene-Disease Associations

genes associated with the disease gastroesophageal reflux; hernia, hiatal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

corneal dystrophies, hereditary; hereditary corneal dystrophy; hernia, abdominal Gene Set

From GAD Gene-Disease Associations

genes associated with the disease corneal dystrophies, hereditary; hereditary corneal dystrophy; hernia, abdominal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hernia, inguinal; infertility, male Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hernia, inguinal; infertility, male in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hernia Gene Set

From GeneRIF Biological Term Annotations

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

genital hernia Gene Set

From HPO Gene-Disease Associations

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

femoral hernia Gene Set

From HPO Gene-Disease Associations

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

hernia of the abdominal wall Gene Set

From HPO Gene-Disease Associations

genes associated with the hernia of the abdominal wall phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

vaginal hernia Gene Set

From HPO Gene-Disease Associations

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

inguinal hernia Gene Set

From HPO Gene-Disease Associations

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

umbilical hernia Gene Set

From HPO Gene-Disease Associations

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

hiatus hernia Gene Set

From HPO Gene-Disease Associations

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

incisional hernia Gene Set

From HPO Gene-Disease Associations

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

hernia Gene Set

From HPO Gene-Disease Associations

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

congenital diaphragmatic hernia Gene Set

From HPO Gene-Disease Associations

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

Hernia, Hiatal Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Hernia, Umbilical Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Hernia, Diaphragmatic Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Hernia, Inguinal Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

inguinal hernia Gene Set

From MPO Gene-Phenotype Associations

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

umbilical hernia Gene Set

From MPO Gene-Phenotype Associations

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

diaphragmatic hernia 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the diaphragmatic hernia 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

hernia, congenital diaphragmatic 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the hernia, congenital diaphragmatic 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

hernia, congenital diaphragmatic 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the hernia, congenital diaphragmatic 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

Congenital Diaphragmatic Hernia Gene Set

From DisGeNET Gene-Disease Associations

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

Hernia Gene Set

From DisGeNET Gene-Disease Associations

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

Hiatal Hernia Gene Set

From DisGeNET Gene-Disease Associations

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

Congenital Cerebral Hernia Gene Set

From DisGeNET Gene-Disease Associations

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

Bilateral Inguinal Hernia Gene Set

From DisGeNET Gene-Disease Associations

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

Congenital Hernia Gene Set

From DisGeNET Gene-Disease Associations

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

Incarcerated Hernia Gene Set

From DisGeNET Gene-Disease Associations

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

Unilateral Inguinal Hernia Nos Gene Set

From DisGeNET Gene-Disease Associations

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

Congenital Hernia Of Foramen Of Bochdalek Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Hernia Of Foramen Of Bochdalek in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Hernia Of Foramen Of Morgagni Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Hernia Of Foramen Of Morgagni in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Inguinal Hernia, Indirect Gene Set

From DisGeNET Gene-Disease Associations

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

Diaphragmatic Hernia Gene Set

From DisGeNET Gene-Disease Associations

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

Hernia Gene Set

From DisGeNET Gene-Phenotype Associations

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

Irreducible Ventral Hernia Gene Set

From DisGeNET Gene-Phenotype Associations

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

Paraesophageal Hernia Gene Set

From DisGeNET Gene-Phenotype Associations

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

Umbilical Hernia Gene Set

From DisGeNET Gene-Phenotype Associations

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

Diaphragmatic Hernia Gene Set

From DisGeNET Gene-Phenotype Associations

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

Ventral Hernia Gene Set

From DisGeNET Gene-Phenotype Associations

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

Parastomal Hernia Gene Set

From DisGeNET Gene-Phenotype Associations

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

Genital Hernia Gene Set

From DisGeNET Gene-Phenotype Associations

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

Incisional Hernia Gene Set

From DisGeNET Gene-Phenotype Associations

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

Inguinal Hernia, Direct Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Inguinal Hernia, Direct in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

diaphragmatic hernia Gene Set

From MGI Mouse Phenotype Associations 2023

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

umbilical hernia Gene Set

From MGI Mouse Phenotype Associations 2023

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

inguinal hernia Gene Set

From MGI Mouse Phenotype Associations 2023

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

abnormal physiological umbilical hernia morphology Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal physiological umbilical hernia morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

Congenital diaphragmatic hernia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Congenital diaphragmatic hernia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Congenital diaphragmatic hernia Gene Set

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

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

Inguinal hernia Gene Set

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

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

Umbilical hernia Gene Set

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

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

Hiatus hernia Gene Set

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

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

Diaphragmatic hernia Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Congenital diaphragmatic hernia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Congenital diaphragmatic hernia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Ventral hernia Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Hernia Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Inguinal hernia Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Inguinal hernia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

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

From Reactome Pathways 2014

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

Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 Gene Set

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

genes co-occuring with the disease Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

hard palate cancer Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

soft palate cancer Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

palate Gene Set

From GeneRIF Biological Term Annotations

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

PAX3_Knock-in_GDS3331_598_mouse_Palatal shelves (E14.5 embryos - palate) Gene Set

From GEO Signatures of Differentially Expressed Genes for Gene Perturbations

genes differentially expressed following the PAX3_Knock-in_GDS3331_598_mouse_Palatal shelves (E14.5 embryos - palate) gene perturbation from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.

soft palate development Gene Set

From GO Biological Process Annotations 2015

genes participating in the soft palate development biological process from the curated GO Biological Process Annotations 2015 dataset.

hard palate development Gene Set

From GO Biological Process Annotations 2015

genes participating in the hard palate development biological process from the curated GO Biological Process Annotations 2015 dataset.

palate development Gene Set

From GO Biological Process Annotations 2015

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

abnormality of the soft palate Gene Set

From HPO Gene-Disease Associations

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

abnormality of the palate Gene Set

From HPO Gene-Disease Associations

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

high palate Gene Set

From HPO Gene-Disease Associations

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

high, narrow palate Gene Set

From HPO Gene-Disease Associations

genes associated with the high, narrow palate phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

palate telangiectasia Gene Set

From HPO Gene-Disease Associations

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

short hard palate Gene Set

From HPO Gene-Disease Associations

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

narrow palate Gene Set

From HPO Gene-Disease Associations

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

abnormality of the hard palate Gene Set

From HPO Gene-Disease Associations

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

absent hard palate Gene Set

From MPO Gene-Phenotype Associations

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

abnormal secondary palate development Gene Set

From MPO Gene-Phenotype Associations

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

short palate Gene Set

From MPO Gene-Phenotype Associations

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

high palate Gene Set

From MPO Gene-Phenotype Associations

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

abnormal primary palate development Gene Set

From MPO Gene-Phenotype Associations

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

abnormal soft palate morphology Gene Set

From MPO Gene-Phenotype Associations

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

abnormal palate bone morphology Gene Set

From MPO Gene-Phenotype Associations

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

abnormal hard palate morphology Gene Set

From MPO Gene-Phenotype Associations

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

palate bone hypoplasia Gene Set

From MPO Gene-Phenotype Associations

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

abnormal palate development Gene Set

From MPO Gene-Phenotype Associations

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

abnormal palate morphology Gene Set

From MPO Gene-Phenotype Associations

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

arched palate Gene Set

From MPO Gene-Phenotype Associations

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

palate Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

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

Byzanthine Arch Palate Gene Set

From DisGeNET Gene-Disease Associations

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

Abnormal Palate Morphology Gene Set

From DisGeNET Gene-Disease Associations

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

Short Palate Gene Set

From DisGeNET Gene-Disease Associations

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

Abnormal Soft Palate Morphology Gene Set

From DisGeNET Gene-Disease Associations

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

Congenital Malformations Of Palate, Not Elsewhere Classified In Icd10Cm Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Malformations Of Palate, Not Elsewhere Classified In Icd10Cm in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short Hard Palate Gene Set

From DisGeNET Gene-Disease Associations

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

Hard Palate Squamous Cell Carcinoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hard Palate Squamous Cell Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

High, Narrow Palate Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype High, Narrow Palate in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Palate Telangiectasia Gene Set

From DisGeNET Gene-Phenotype Associations

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

Narrow Palate Gene Set

From DisGeNET Gene-Phenotype Associations

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

Palate Fistula Gene Set

From DisGeNET Gene-Phenotype Associations

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

Residue On Palate Gene Set

From DisGeNET Gene-Phenotype Associations

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

secondary palate development Gene Set

From GO Biological Process Annotations 2023

genes participating in the secondary palate development biological process from the curated GO Biological Process Annotations 2023 dataset.

PRDM16-22522345-PALATE-MESENCHYMAL-MOUSE Gene Set

From ChEA Transcription Factor Targets 2022

target genes of the PRDM16-22522345-PALATE-MESENCHYMAL-MOUSE transcription factor in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.

abnormal palate morphology Gene Set

From MGI Mouse Phenotype Associations 2023

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

absent soft palate Gene Set

From MGI Mouse Phenotype Associations 2023

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

abnormal secondary palate development Gene Set

From MGI Mouse Phenotype Associations 2023

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

abnormal soft palate morphology Gene Set

From MGI Mouse Phenotype Associations 2023

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

abnormal hard palate morphology Gene Set

From MGI Mouse Phenotype Associations 2023

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

absent hard palate Gene Set

From MGI Mouse Phenotype Associations 2023

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

absent primary palate Gene Set

From MGI Mouse Phenotype Associations 2023

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

abnormal palate development Gene Set

From MGI Mouse Phenotype Associations 2023

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

short soft palate Gene Set

From MGI Mouse Phenotype Associations 2023

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

abnormal palate bone morphology Gene Set

From MGI Mouse Phenotype Associations 2023

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

palate bone hypoplasia Gene Set

From MGI Mouse Phenotype Associations 2023

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

arched palate Gene Set

From MGI Mouse Phenotype Associations 2023

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

absent palate bones Gene Set

From MGI Mouse Phenotype Associations 2023

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

high palate Gene Set

From MGI Mouse Phenotype Associations 2023

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

abnormal secondary palate morphology Gene Set

From MGI Mouse Phenotype Associations 2023

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

narrow palate Gene Set

From MGI Mouse Phenotype Associations 2023

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

secondary palate development Gene Set

From GO Biological Process Annotations 2025

genes participating in the secondary palate development biological process from the curated GO Biological Process Annotations 2025 dataset.

Hard palate cancer Gene Set

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

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

Soft palate cancer Gene Set

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

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

Palate Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

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

High palate Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Orofacial cleft 11 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Orofacial cleft 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Orofacial cleft 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Orofacial cleft 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Orofacial cleft 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Orofacial cleft 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

synaptic cleft Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the synaptic cleft cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

synaptic cleft Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the synaptic cleft cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

Orofacial Cleft 9 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Orofacial Cleft 9 from the curated CTD Gene-Disease Associations dataset.

Orofacial Cleft 1 Gene Set

From CTD Gene-Disease Associations

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

Cleft Lip Gene Set

From CTD Gene-Disease Associations

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

Orofacial Cleft 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Orofacial Cleft 4 from the curated CTD Gene-Disease Associations dataset.

Orofacial Cleft 2 Gene Set

From CTD Gene-Disease Associations

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

Orofacial Cleft 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Orofacial Cleft 5 from the curated CTD Gene-Disease Associations dataset.

Orofacial Cleft 3 Gene Set

From CTD Gene-Disease Associations

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

Orofacial Cleft 12 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Orofacial Cleft 12 from the curated CTD Gene-Disease Associations dataset.

Orofacial Cleft 10 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Orofacial Cleft 10 from the curated CTD Gene-Disease Associations dataset.

Orofacial Cleft 11 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Orofacial Cleft 11 from the curated CTD Gene-Disease Associations dataset.

OROFACIAL CLEFT 6, SUSCEPTIBILITY TO Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease OROFACIAL CLEFT 6, SUSCEPTIBILITY TO from the curated CTD Gene-Disease Associations dataset.

Cleft Lip Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Cleft Lip in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

orofacial cleft Gene Set

From DISEASES Experimental Gene-Disease Association Evidence Scores

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

orofacial cleft Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

cleft lip Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

non-syndromic cleft lip Gene Set

From GAD Gene-Disease Associations

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

cleft lip; Gene Set

From GAD Gene-Disease Associations

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

cleft lip Gene Set

From GAD Gene-Disease Associations

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

nonsymdromic cleft lip Gene Set

From GAD Gene-Disease Associations

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

nonsyndromic cleft lip Gene Set

From GAD Gene-Disease Associations

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

cleft Gene Set

From GeneRIF Biological Term Annotations

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

acetylcholine catabolic process in synaptic cleft Gene Set

From GO Biological Process Annotations 2015

genes participating in the acetylcholine catabolic process in synaptic cleft biological process from the curated GO Biological Process Annotations 2015 dataset.

synaptic cleft Gene Set

From GO Cellular Component Annotations 2015

proteins localized to the synaptic cleft cellular component from the curated GO Cellular Component Annotations 2015 dataset.

Cleft plate (environmental tobacco smoke interaction) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Cleft plate (environmental tobacco smoke interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

cleft lip Gene Set

From GWASdb SNP-Disease Associations

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

orofacial cleft Gene Set

From GWASdb SNP-Disease Associations

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

oral cleft Gene Set

From GWASdb SNP-Phenotype Associations

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

cleft ala nasi Gene Set

From HPO Gene-Disease Associations

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

unilateral cleft lip Gene Set

From HPO Gene-Disease Associations

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

cleft upper lip Gene Set

From HPO Gene-Disease Associations

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

non-midline cleft lip Gene Set

From HPO Gene-Disease Associations

genes associated with the non-midline cleft lip phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

cleft vertebral arch Gene Set

From HPO Gene-Disease Associations

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

submucous cleft lip Gene Set

From HPO Gene-Disease Associations

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

cleft eyelid Gene Set

From HPO Gene-Disease Associations

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

midline facial cleft Gene Set

From HPO Gene-Disease Associations

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

median cleft lip Gene Set

From HPO Gene-Disease Associations

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

cleft in skull base Gene Set

From HPO Gene-Disease Associations

genes associated with the cleft in skull base phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

oral cleft Gene Set

From HPO Gene-Disease Associations

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

cleft at the superior portion of the pinna Gene Set

From HPO Gene-Disease Associations

genes associated with the cleft at the superior portion of the pinna phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

cleft of chin Gene Set

From HPO Gene-Disease Associations

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

cleft lower alveolar ridge Gene Set

From HPO Gene-Disease Associations

genes associated with the cleft lower alveolar ridge phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

cleft helix Gene Set

From HPO Gene-Disease Associations

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

facial cleft Gene Set

From HPO Gene-Disease Associations

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

coronal cleft vertebrae Gene Set

From HPO Gene-Disease Associations

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

cleft mandible Gene Set

From HPO Gene-Disease Associations

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

posterior pharyngeal cleft Gene Set

From HPO Gene-Disease Associations

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

laryngeal cleft Gene Set

From HPO Gene-Disease Associations

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

bilateral cleft lip Gene Set

From HPO Gene-Disease Associations

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

alveolar ridge cleft Gene Set

From HPO Gene-Disease Associations

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

Cleft Lip Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

midline facial cleft Gene Set

From MPO Gene-Phenotype Associations

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

cleft lip Gene Set

From MPO Gene-Phenotype Associations

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

cleft chin Gene Set

From MPO Gene-Phenotype Associations

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

oblique facial cleft Gene Set

From MPO Gene-Phenotype Associations

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

facial cleft Gene Set

From MPO Gene-Phenotype Associations

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

orofacial cleft 9 Gene Set

From OMIM Gene-Disease Associations

genes associated with the orofacial cleft 9 phenotype from the curated OMIM Gene-Disease Associations dataset.

orofacial cleft 8 Gene Set

From OMIM Gene-Disease Associations

genes associated with the orofacial cleft 8 phenotype from the curated OMIM Gene-Disease Associations dataset.

orofacial cleft 7 Gene Set

From OMIM Gene-Disease Associations

genes associated with the orofacial cleft 7 phenotype from the curated OMIM Gene-Disease Associations dataset.

orofacial cleft 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the orofacial cleft 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

orofacial cleft 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the orofacial cleft 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

orofacial cleft 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the orofacial cleft 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

orofacial cleft 13 Gene Set

From OMIM Gene-Disease Associations

genes associated with the orofacial cleft 13 phenotype from the curated OMIM Gene-Disease Associations dataset.

orofacial cleft-1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the orofacial cleft-1 phenotype from the curated OMIM Gene-Disease Associations dataset.

orofacial cleft-2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the orofacial cleft-2 phenotype from the curated OMIM Gene-Disease Associations dataset.

orofacial cleft-3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the orofacial cleft-3 phenotype from the curated OMIM Gene-Disease Associations dataset.

orofacial cleft 14 Gene Set

From OMIM Gene-Disease Associations

genes associated with the orofacial cleft 14 phenotype from the curated OMIM Gene-Disease Associations dataset.

orofacial cleft 12 Gene Set

From OMIM Gene-Disease Associations

genes associated with the orofacial cleft 12 phenotype from the curated OMIM Gene-Disease Associations dataset.

orofacial cleft 11 Gene Set

From OMIM Gene-Disease Associations

genes associated with the orofacial cleft 11 phenotype from the curated OMIM Gene-Disease Associations dataset.

orofacial cleft 10 Gene Set

From OMIM Gene-Disease Associations

genes associated with the orofacial cleft 10 phenotype from the curated OMIM Gene-Disease Associations dataset.

tooth agenesis, selective, 1, with or without orofacial cleft Gene Set

From OMIM Gene-Disease Associations

genes associated with the tooth agenesis, selective, 1, with or without orofacial cleft phenotype from the curated OMIM Gene-Disease Associations dataset.

Neurotransmitter Clearance In The Synaptic Cleft Gene Set

From Reactome Pathways 2014

proteins participating in the Neurotransmitter Clearance In The Synaptic Cleft pathway from the Reactome Pathways dataset.

Serotonin clearance from the synaptic cleft Gene Set

From Reactome Pathways 2014

proteins participating in the Serotonin clearance from the synaptic cleft pathway from the Reactome Pathways dataset.

Dopamine clearance from the synaptic cleft Gene Set

From Reactome Pathways 2014

proteins participating in the Dopamine clearance from the synaptic cleft pathway from the Reactome Pathways dataset.

Neurotransmitter Clearance In The Synaptic Cleft(Homo sapiens) Gene Set

From WikiPathways Pathways 2014

proteins participating in the Neurotransmitter Clearance In The Synaptic Cleft(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset.

Cleft Lip Gene Set

From DisGeNET Gene-Disease Associations

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

Oral Cleft Gene Set

From DisGeNET Gene-Disease Associations

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

Orofacial Cleft Gene Set

From DisGeNET Gene-Disease Associations

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

Laryngeal Cleft Gene Set

From DisGeNET Gene-Disease Associations

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

Midline Cervical Cleft Gene Set

From DisGeNET Gene-Disease Associations

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

Cleft Face Gene Set

From DisGeNET Gene-Disease Associations

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

Midline Facial Cleft Gene Set

From DisGeNET Gene-Disease Associations

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

Median Cleft Lip Gene Set

From DisGeNET Gene-Disease Associations

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

Hypodontia Oligodontia With Orofacial Cleft Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hypodontia Oligodontia With Orofacial Cleft in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Fistula Of Branchial Cleft Gene Set

From DisGeNET Gene-Disease Associations

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

Cleft Lip, Congenital Healed Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Cleft Lip, Congenital Healed in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Rathke Cleft Cysts Gene Set

From DisGeNET Gene-Disease Associations

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

Unilateral Cleft Lip Gene Set

From DisGeNET Gene-Disease Associations

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

Cleft Earlobe Gene Set

From DisGeNET Gene-Disease Associations

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

Sternal Cleft Gene Set

From DisGeNET Gene-Disease Associations

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

Non-Midline Cleft Lip Gene Set

From DisGeNET Gene-Disease Associations

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

Bilateral Cleft Lip Gene Set

From DisGeNET Gene-Disease Associations

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

Cleft Uvula Gene Set

From DisGeNET Gene-Disease Associations

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

Unilateral Alveolar Cleft Of Maxilla Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Unilateral Alveolar Cleft Of Maxilla in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cleft Leaflet Of Mitral Valve Gene Set

From DisGeNET Gene-Disease Associations

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

Cleft Lip Gene Set

From DisGeNET Gene-Phenotype Associations

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

Cleft Anterior Mitral Valve Leaflet Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Cleft Anterior Mitral Valve Leaflet in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Posterior Pharyngeal Cleft Gene Set

From DisGeNET Gene-Phenotype Associations

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

Coronal Cleft Vertebrae Gene Set

From DisGeNET Gene-Phenotype Associations

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

Cleft Helix Gene Set

From DisGeNET Gene-Phenotype Associations

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

Cleft Lower Alveolar Ridge Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Cleft Lower Alveolar Ridge in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Cleft Mandible Gene Set

From DisGeNET Gene-Phenotype Associations

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

Cleft Of Chin Gene Set

From DisGeNET Gene-Phenotype Associations

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

Cleft Ala Nasi Gene Set

From DisGeNET Gene-Phenotype Associations

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

Cleft At The Superior Portion Of The Pinna Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Cleft At The Superior Portion Of The Pinna in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Submucous Cleft Lip Gene Set

From DisGeNET Gene-Phenotype Associations

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

Cleft In Skull Base Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Cleft In Skull Base in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Gingival Cleft Gene Set

From DisGeNET Gene-Phenotype Associations

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

Cleft Alveolar Process Of Maxilla Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Cleft Alveolar Process Of Maxilla in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

acetylcholine catabolic process in synaptic cleft Gene Set

From GO Biological Process Annotations 2023

genes participating in the acetylcholine catabolic process in synaptic cleft biological process from the curated GO Biological Process Annotations 2023 dataset.

cleft chin Gene Set

From MGI Mouse Phenotype Associations 2023

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

midline facial cleft Gene Set

From MGI Mouse Phenotype Associations 2023

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

cleft upper lip Gene Set

From MGI Mouse Phenotype Associations 2023

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

unilateral cleft upper lip Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the unilateral cleft upper lip phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

bilateral cleft upper lip Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the bilateral cleft upper lip phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

facial cleft Gene Set

From MGI Mouse Phenotype Associations 2023

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

midline cleft upper lip Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the midline cleft upper lip phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

oblique facial cleft Gene Set

From MGI Mouse Phenotype Associations 2023

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

oral cleft Gene Set

From MGI Mouse Phenotype Associations 2023

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

facial cleft Gene Set

From IMPC Knockout Mouse Phenotypes

gene knockouts causing the facial cleft phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.

synaptic cleft Gene Set

From SynGO Synaptic Gene Annotations

genes associated with the synaptic term synaptic cleft from the SynGO Synaptic Gene Annotations dataset.

extracellular matrix of synaptic cleft Gene Set

From SynGO Synaptic Gene Annotations

genes associated with the synaptic term extracellular matrix of synaptic cleft from the SynGO Synaptic Gene Annotations dataset.

Dopamine clearance from the synaptic cleft Gene Set

From Reactome Pathways 2024

proteins participating in the Dopamine clearance from the synaptic cleft pathway from the Reactome Pathways 2024 dataset.

Serotonin clearance from the synaptic cleft Gene Set

From Reactome Pathways 2024

proteins participating in the Serotonin clearance from the synaptic cleft pathway from the Reactome Pathways 2024 dataset.

acetylcholine catabolic process in synaptic cleft Gene Set

From GO Biological Process Annotations 2025

genes participating in the acetylcholine catabolic process in synaptic cleft biological process from the curated GO Biological Process Annotations 2025 dataset.

Orofacial cleft Gene Set

From DISEASES Experimental Gene-Disease Association Evidence Scores 2025

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

Cleft lip Gene Set

From DISEASES Experimental Gene-Disease Association Evidence Scores 2025

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

Orofacial cleft Gene Set

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

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

Cleft lip Gene Set

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

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

Orofacial cleft 7 Gene Set

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

genes co-occuring with the disease Orofacial cleft 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Orofacial cleft 1 Gene Set

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

genes co-occuring with the disease Orofacial cleft 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Orofacial cleft 15 Gene Set

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

genes co-occuring with the disease Orofacial cleft 15 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Orofacial cleft 10 Gene Set

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

genes co-occuring with the disease Orofacial cleft 10 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Orofacial cleft 5 Gene Set

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

genes co-occuring with the disease Orofacial cleft 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Orofacial cleft 11 Gene Set

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

genes co-occuring with the disease Orofacial cleft 11 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Orofacial cleft 4 Gene Set

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

genes co-occuring with the disease Orofacial cleft 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Orofacial cleft 8 Gene Set

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

genes co-occuring with the disease Orofacial cleft 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Synaptic cleft Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Synaptic cleft cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

Synaptic cleft Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Synaptic cleft cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Extracellular matrix of synaptic cleft Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Extracellular matrix of synaptic cleft cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Orofacial cleft Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Branchial cleft anomaly Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Branchial cleft anomaly phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Cleft lip Gene Set

From ClinVar Gene-Phenotype Associations 2025

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

Midline facial cleft Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Midline facial cleft phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Cleft plate (environmental tobacco smoke interaction) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Cleft plate (environmental tobacco smoke interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Cleft lip Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Cleft lip phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Nonsyndromic cleft lip Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Nonsyndromic cleft lip phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Orofacial cleft x maternal periconceptional smoking interaction (1df) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Orofacial cleft x maternal periconceptional smoking interaction (1df) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Orofacial cleft x maternal periconceptional alcohol use interaction (1df) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Orofacial cleft x maternal periconceptional alcohol use interaction (1df) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Orofacial cleft x maternal periconceptional multivitamin use interaction (1df) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Orofacial cleft x maternal periconceptional multivitamin use interaction (1df) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Orofacial cleft x maternal periconceptional smoking interaction (2df) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Orofacial cleft x maternal periconceptional smoking interaction (2df) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Orofacial cleft x maternal periconceptional alcohol use interaction (2df) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Orofacial cleft x maternal periconceptional alcohol use interaction (2df) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Orofacial cleft x maternal periconceptional multivitamin use interaction (2df) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Orofacial cleft x maternal periconceptional multivitamin use interaction (2df) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

basic mechanism of action of ppara pparb(d) and pparg and effects on gene expression Gene Set

From Biocarta Pathways

proteins participating in the basic mechanism of action of ppara pparb(d) and pparg and effects on gene expression pathway from the Biocarta Pathways dataset.

BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypomyelination with brainstem and spinal cord involvement and leg spasticity Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypomyelination with brainstem and spinal cord involvement and leg spasticity phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation and microcephaly with pontine and cerebellar hypoplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation and microcephaly with pontine and cerebellar hypoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Diabetes mellitus AND insipidus with optic atrophy AND deafness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Diabetes mellitus AND insipidus with optic atrophy AND deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH from the curated CTD Gene-Disease Associations dataset.

Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 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.

Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia from the curated CTD Gene-Disease Associations dataset.

Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux from the curated CTD Gene-Disease Associations dataset.

Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations from the curated CTD Gene-Disease Associations dataset.

postheparin plasma lipase activities body fat and plasma lipid and lipoprotein concentrations Gene Set

From GAD Gene-Disease Associations

genes associated with the disease postheparin plasma lipase activities body fat and plasma lipid and lipoprotein concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anxiety and hostility and depression Gene Set

From GAD Gene-Disease Associations

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

charcot-marie-tooth disease; hereditary motor and sensory neuropathies; hereditary sensory and motor neuropathy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease charcot-marie-tooth disease; hereditary motor and sensory neuropathies; hereditary sensory and motor neuropathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

frontotemporal dementia and pick-like 3r and 4r tauopathy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease frontotemporal dementia and pick-like 3r and 4r tauopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adipose tissue lipoprotein lipase activity and lipoprotein lipid and glucose concentrations Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adipose tissue lipoprotein lipase activity and lipoprotein lipid and glucose concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

squamous cell carcinomas of the head and neck (scchn) and breast cancer Gene Set

From GAD Gene-Disease Associations

genes associated with the disease squamous cell carcinomas of the head and neck (scchn) and breast cancer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

vitamins and metabolites in pregnant women and neonates Gene Set

From GAD Gene-Disease Associations

genes associated with the disease vitamins and metabolites in pregnant women and neonates in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

racemase and epimerase activity, acting on amino acids and derivatives Gene Set

From GO Molecular Function Annotations 2015

genes performing the racemase and epimerase activity, acting on amino acids and derivatives molecular function from the curated GO Molecular Function Annotations 2015 dataset.

racemase and epimerase activity, acting on carbohydrates and derivatives Gene Set

From GO Molecular Function Annotations 2015

genes performing the racemase and epimerase activity, acting on carbohydrates and derivatives molecular function from the curated GO Molecular Function Annotations 2015 dataset.

leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation Gene Set

From OMIM Gene-Disease Associations

genes associated with the leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation phenotype from the curated OMIM Gene-Disease Associations dataset.

microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma Gene Set

From OMIM Gene-Disease Associations

genes associated with the microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma phenotype from the curated OMIM Gene-Disease Associations dataset.

hypomyelination with brainstem and spinal cord involvement and leg spasticity Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypomyelination with brainstem and spinal cord involvement and leg spasticity phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation and microcephaly with pontine and cerebellar hypoplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation and microcephaly with pontine and cerebellar hypoplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephaly, progressive, seizures, and cerebral and cerebellar atrophy Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly, progressive, seizures, and cerebral and cerebellar atrophy phenotype from the curated OMIM Gene-Disease Associations dataset.

craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies Gene Set

From OMIM Gene-Disease Associations

genes associated with the craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies phenotype from the curated OMIM Gene-Disease Associations dataset.

Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S Gene Set

From Reactome Pathways 2014

proteins participating in the Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S pathway from the Reactome Pathways dataset.

Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding Gene Set

From Reactome Pathways 2014

proteins participating in the Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding pathway from the Reactome Pathways dataset.

PI and PC transport between ER and Golgi membranes Gene Set

From Reactome Pathways 2014

proteins participating in the PI and PC transport between ER and Golgi membranes pathway from the Reactome Pathways dataset.

Orexin and neuropeptides FF and QRFP bind to their respective receptors Gene Set

From Reactome Pathways 2014

proteins participating in the Orexin and neuropeptides FF and QRFP bind to their respective receptors pathway from the Reactome Pathways dataset.

FGFR1c and Klotho ligand binding and activation Gene Set

From Reactome Pathways 2014

proteins participating in the FGFR1c and Klotho ligand binding and activation pathway from the Reactome Pathways dataset.

Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane Gene Set

From Reactome Pathways 2014

proteins participating in the Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane pathway from the Reactome Pathways dataset.

Synthesis and processing of ENV and VPU Gene Set

From Reactome Pathways 2014

proteins participating in the Synthesis and processing of ENV and VPU pathway from the Reactome Pathways dataset.

Synthesis and interconversion of nucleotide di- and triphosphates Gene Set

From Reactome Pathways 2014

proteins participating in the Synthesis and interconversion of nucleotide di- and triphosphates pathway from the Reactome Pathways dataset.

SREBF and miR33 in cholesterol and lipid homeostasis(Homo sapiens) Gene Set

From WikiPathways Pathways 2014

proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset.

SREBF and miR33 in cholesterol and lipid homeostasis(Mus musculus) Gene Set

From WikiPathways Pathways 2014

proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis(Mus musculus) pathway from the WikiPathways Pathways 2014 dataset.

SRF and miRs in Smooth Muscle Differentiation and Proliferation(Homo sapiens) Gene Set

From WikiPathways Pathways 2014

proteins participating in the SRF and miRs in Smooth Muscle Differentiation and Proliferation(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset.

High-Grade B-Cell Lymphoma, With Myc And Bcl2 And/Or Bcl6 Rearrangements Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease High-Grade B-Cell Lymphoma, With Myc And Bcl2 And/Or Bcl6 Rearrangements in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hypomyelination With Brain Stem And Spinal Cord Involvement And Leg Spasticity Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hypomyelination With Brain Stem And Spinal Cord Involvement And Leg Spasticity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Anal Intraepithelial Neoplasia I And Ii (Ain I And Ii) (Histologically Confirmed) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Anal Intraepithelial Neoplasia I And Ii (Ain I And Ii) (Histologically Confirmed) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

racemase and epimerase activity, acting on carbohydrates and derivatives Gene Set

From GO Molecular Function Annotations 2023

genes performing the racemase and epimerase activity, acting on carbohydrates and derivatives molecular function from the curated GO Molecular Function Annotations 2023 dataset.

SRF and miRs in smooth muscle differentiation and proliferation Gene Set

From WikiPathways Pathways 2024

proteins participating in the SRF and miRs in smooth muscle differentiation and proliferation pathway from the WikiPathways Pathways 2024 dataset.

SREBF and miR33 in cholesterol and lipid homeostasis Gene Set

From WikiPathways Pathways 2024

proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis pathway from the WikiPathways Pathways 2024 dataset.

RIOK1 and RIOK2 in EGFR and PI3K mediated tumorigenesis Gene Set

From WikiPathways Pathways 2024

proteins participating in the RIOK1 and RIOK2 in EGFR and PI3K mediated tumorigenesis pathway from the WikiPathways Pathways 2024 dataset.

ApoE and miR 146 in inflammation and atherosclerosis Gene Set

From WikiPathways Pathways 2024

proteins participating in the ApoE and miR 146 in inflammation and atherosclerosis pathway from the WikiPathways Pathways 2024 dataset.

Biosynthesis and regeneration of tetrahydrobiopterin and catabolism of phenylalanine Gene Set

From WikiPathways Pathways 2024

proteins participating in the Biosynthesis and regeneration of tetrahydrobiopterin and catabolism of phenylalanine pathway from the WikiPathways Pathways 2024 dataset.

Somatroph axis GH and its relationship to dietary restriction and aging Gene Set

From WikiPathways Pathways 2024

proteins participating in the Somatroph axis GH and its relationship to dietary restriction and aging pathway from the WikiPathways Pathways 2024 dataset.

Mechanoregulation and pathology of YAP TAZ via Hippo and non Hippo mechanisms Gene Set

From WikiPathways Pathways 2024

proteins participating in the Mechanoregulation and pathology of YAP TAZ via Hippo and non Hippo mechanisms pathway from the WikiPathways Pathways 2024 dataset.

GLP 1 from intestine and pancreas and role in glucose homeostasis Gene Set

From WikiPathways Pathways 2024

proteins participating in the GLP 1 from intestine and pancreas and role in glucose homeostasis pathway from the WikiPathways Pathways 2024 dataset.

Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S Gene Set

From Reactome Pathways 2024

proteins participating in the Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S pathway from the Reactome Pathways 2024 dataset.

Biosynthesis of protectin and resolvin conjugates in tissue regeneration (PCTR and RCTR) Gene Set

From Reactome Pathways 2024

proteins participating in the Biosynthesis of protectin and resolvin conjugates in tissue regeneration (PCTR and RCTR) pathway from the Reactome Pathways 2024 dataset.

Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding Gene Set

From Reactome Pathways 2024

proteins participating in the Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding pathway from the Reactome Pathways 2024 dataset.

FGFR1c and Klotho ligand binding and activation Gene Set

From Reactome Pathways 2024

proteins participating in the FGFR1c and Klotho ligand binding and activation pathway from the Reactome Pathways 2024 dataset.

MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis Gene Set

From Reactome Pathways 2024

proteins participating in the MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis pathway from the Reactome Pathways 2024 dataset.

Orexin and neuropeptides FF and QRFP bind to their respective receptors Gene Set

From Reactome Pathways 2024

proteins participating in the Orexin and neuropeptides FF and QRFP bind to their respective receptors pathway from the Reactome Pathways 2024 dataset.

PI and PC transport between ER and Golgi membranes Gene Set

From Reactome Pathways 2024

proteins participating in the PI and PC transport between ER and Golgi membranes pathway from the Reactome Pathways 2024 dataset.

PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1 Gene Set

From Reactome Pathways 2024

proteins participating in the PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1 pathway from the Reactome Pathways 2024 dataset.

Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Gene Set

From Reactome Pathways 2024

proteins participating in the Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks pathway from the Reactome Pathways 2024 dataset.

Synthesis and processing of ENV and VPU Gene Set

From Reactome Pathways 2024

proteins participating in the Synthesis and processing of ENV and VPU pathway from the Reactome Pathways 2024 dataset.

Transcriptional and post-translational regulation of MITF-M expression and activity Gene Set

From Reactome Pathways 2024

proteins participating in the Transcriptional and post-translational regulation of MITF-M expression and activity pathway from the Reactome Pathways 2024 dataset.

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

From Reactome Pathways 2024

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

Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane Gene Set

From Reactome Pathways 2024

proteins participating in the Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane pathway from the Reactome Pathways 2024 dataset.

racemase and epimerase activity, acting on carbohydrates and derivatives Gene Set

From GO Molecular Function Annotations 2025

genes performing the racemase and epimerase activity, acting on carbohydrates and derivatives molecular function from the curated GO Molecular Function Annotations 2025 dataset.

Vertebral anomalies and variable endocrine and T-cell dysfunction Gene Set

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

genes co-occuring with the disease Vertebral anomalies and variable endocrine and T-cell dysfunction in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Vertebral anomalies and variable endocrine and T-cell dysfunction Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Vertebral anomalies and variable endocrine and T-cell dysfunction phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Regulation of gene expression and signal transduction in immune and stress responses Gene Set

From CM4AI U2OS Cell Map Protein Localization Assemblies

proteins comprising Regulation of gene expression and signal transduction in immune and stress responses assembly using integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.

Gastroesophageal reflux disease, peptic ulcer disease and/or corresponding medications and treatment Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Gastroesophageal reflux disease, peptic ulcer disease and/or corresponding medications and treatment phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Basic cell groups and regions Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Basic cell groups and regions relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

head and face region of M1 Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in head and face region of M1 relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

telomeres telomerase cellular aging and immortality Gene Set

From Biocarta Pathways

proteins participating in the telomeres telomerase cellular aging and immortality pathway from the Biocarta Pathways dataset.

mcalpain and friends in cell motility Gene Set

From Biocarta Pathways

proteins participating in the mcalpain and friends in cell motility pathway from the Biocarta Pathways dataset.

role of ppar-gamma coactivators in obesity and thermogenesis Gene Set

From Biocarta Pathways

proteins participating in the role of ppar-gamma coactivators in obesity and thermogenesis pathway from the Biocarta Pathways dataset.

il12 and stat4 dependent signaling pathway in th1 development Gene Set

From Biocarta Pathways

proteins participating in the il12 and stat4 dependent signaling pathway in th1 development pathway from the Biocarta Pathways dataset.

hypoxia and p53 in the cardiovascular system Gene Set

From Biocarta Pathways

proteins participating in the hypoxia and p53 in the cardiovascular system pathway from the Biocarta Pathways dataset.

lissencephaly gene (lis1) in neuronal migration and development Gene Set

From Biocarta Pathways

proteins participating in the lissencephaly gene (lis1) in neuronal migration and development pathway from the Biocarta Pathways dataset.

role of erbb2 in signal transduction and oncology Gene Set

From Biocarta Pathways

proteins participating in the role of erbb2 in signal transduction and oncology pathway from the Biocarta Pathways dataset.

corticosteroids and cardioprotection Gene Set

From Biocarta Pathways

proteins participating in the corticosteroids and cardioprotection pathway from the Biocarta Pathways dataset.

cyclins and cell cycle regulation Gene Set

From Biocarta Pathways

proteins participating in the cyclins and cell cycle regulation pathway from the Biocarta Pathways dataset.

mechanism of acetaminophen activity and toxicity Gene Set

From Biocarta Pathways

proteins participating in the mechanism of acetaminophen activity and toxicity pathway from the Biocarta Pathways dataset.

nfat and hypertrophy of the heart Gene Set

From Biocarta Pathways

proteins participating in the nfat and hypertrophy of the heart pathway from the Biocarta Pathways dataset.

acetylation and deacetylation of rela in nucleus Gene Set

From Biocarta Pathways

proteins participating in the acetylation and deacetylation of rela in nucleus pathway from the Biocarta Pathways dataset.

thrombin signaling and protease-activated receptors Gene Set

From Biocarta Pathways

proteins participating in the thrombin signaling and protease-activated receptors pathway from the Biocarta Pathways dataset.

antigen processing and presentation Gene Set

From Biocarta Pathways

proteins participating in the antigen processing and presentation pathway from the Biocarta Pathways dataset.

stathmin and breast cancer resistance to antimicrotubule agents Gene Set

From Biocarta Pathways

proteins participating in the stathmin and breast cancer resistance to antimicrotubule agents pathway from the Biocarta Pathways dataset.

role of ß-arrestins in the activation and targeting of map kinases Gene Set

From Biocarta Pathways

proteins participating in the role of ß-arrestins in the activation and targeting of map kinases pathway from the Biocarta Pathways dataset.

cystic fibrosis transmembrane conductance regulator (cftr) and beta 2 adrenergic receptor (b2ar) pathway Gene Set

From Biocarta Pathways

proteins participating in the cystic fibrosis transmembrane conductance regulator (cftr) and beta 2 adrenergic receptor (b2ar) pathway pathway from the Biocarta Pathways dataset.

role of pi3k subunit p85 in regulation of actin organization and cell migration Gene Set

From Biocarta Pathways

proteins participating in the role of pi3k subunit p85 in regulation of actin organization and cell migration pathway from the Biocarta Pathways dataset.

btg family proteins and cell cycle regulation Gene Set

From Biocarta Pathways

proteins participating in the btg family proteins and cell cycle regulation pathway from the Biocarta Pathways dataset.

control of skeletal myogenesis by hdac and calcium/calmodulin-dependent kinase (camk) Gene Set

From Biocarta Pathways

proteins participating in the control of skeletal myogenesis by hdac and calcium/calmodulin-dependent kinase (camk) pathway from the Biocarta Pathways dataset.

endocytotic role of ndk phosphins and dynamin Gene Set

From Biocarta Pathways

proteins participating in the endocytotic role of ndk phosphins and dynamin pathway from the Biocarta Pathways dataset.

regulation of eif-4e and p70s6 kinase Gene Set

From Biocarta Pathways

proteins participating in the regulation of eif-4e and p70s6 kinase pathway from the Biocarta Pathways dataset.

estrogen responsive protein efp controls cell cycle and breast tumors growth Gene Set

From Biocarta Pathways

proteins participating in the estrogen responsive protein efp controls cell cycle and breast tumors growth pathway from the Biocarta Pathways dataset.

vegf hypoxia and angiogenesis Gene Set

From Biocarta Pathways

proteins participating in the vegf hypoxia and angiogenesis pathway from the Biocarta Pathways dataset.

yaci and bcma stimulation of b cell immune responses Gene Set

From Biocarta Pathways

proteins participating in the yaci and bcma stimulation of b cell immune responses pathway from the Biocarta Pathways dataset.

lck and fyn tyrosine kinases in initiation of tcr activation Gene Set

From Biocarta Pathways

proteins participating in the lck and fyn tyrosine kinases in initiation of tcr activation pathway from the Biocarta Pathways dataset.

hiv-1 nef: negative effector of fas and tnf Gene Set

From Biocarta Pathways

proteins participating in the hiv-1 nef: negative effector of fas and tnf pathway from the Biocarta Pathways dataset.

nuclear receptors coordinate the activities of chromatin remodeling complexes and coactivators to facilitate initiation of transcription in carcinoma cells Gene Set

From Biocarta Pathways

proteins participating in the nuclear receptors coordinate the activities of chromatin remodeling complexes and coactivators to facilitate initiation of transcription in carcinoma cells pathway from the Biocarta Pathways dataset.

ucalpain and friends in cell spread Gene Set

From Biocarta Pathways

proteins participating in the ucalpain and friends in cell spread pathway from the Biocarta Pathways dataset.

ionomycin and phorbal ester signaling pathway Gene Set

From Biocarta Pathways

proteins participating in the ionomycin and phorbal ester signaling pathway pathway from the Biocarta Pathways dataset.

carm1 and regulation of the estrogen receptor Gene Set

From Biocarta Pathways

proteins participating in the carm1 and regulation of the estrogen receptor pathway from the Biocarta Pathways dataset.

phosphoinositides and their downstream targets Gene Set

From Biocarta Pathways

proteins participating in the phosphoinositides and their downstream targets pathway from the Biocarta Pathways dataset.

melanocyte development and pigmentation pathway Gene Set

From Biocarta Pathways

proteins participating in the melanocyte development and pigmentation pathway pathway from the Biocarta Pathways dataset.

akap95 role in mitosis and chromosome dynamics Gene Set

From Biocarta Pathways

proteins participating in the akap95 role in mitosis and chromosome dynamics pathway from the Biocarta Pathways dataset.

transcription factor creb and its extracellular signals Gene Set

From Biocarta Pathways

proteins participating in the transcription factor creb and its extracellular signals pathway from the Biocarta Pathways dataset.

visceral fat deposits and the metabolic syndrome Gene Set

From Biocarta Pathways

proteins participating in the visceral fat deposits and the metabolic syndrome pathway from the Biocarta Pathways dataset.

the igf-1 receptor and longevity Gene Set

From Biocarta Pathways

proteins participating in the the igf-1 receptor and longevity pathway from the Biocarta Pathways dataset.

cdc25 and chk1 regulatory pathway in response to dna damage Gene Set

From Biocarta Pathways

proteins participating in the cdc25 and chk1 regulatory pathway in response to dna damage pathway from the Biocarta Pathways dataset.

human cytomegalovirus and map kinase pathways Gene Set

From Biocarta Pathways

proteins participating in the human cytomegalovirus and map kinase pathways pathway from the Biocarta Pathways dataset.

influence of ras and rho proteins on g1 to s transition Gene Set

From Biocarta Pathways

proteins participating in the influence of ras and rho proteins on g1 to s transition pathway from the Biocarta Pathways dataset.

proteolysis and signaling pathway of notch Gene Set

From Biocarta Pathways

proteins participating in the proteolysis and signaling pathway of notch pathway from the Biocarta Pathways dataset.

apoptotic dna-fragmentation and tissue homeostasis Gene Set

From Biocarta Pathways

proteins participating in the apoptotic dna-fragmentation and tissue homeostasis pathway from the Biocarta Pathways dataset.

ion channels and their functional role in vascular endothelium Gene Set

From Biocarta Pathways

proteins participating in the ion channels and their functional role in vascular endothelium pathway from the Biocarta Pathways dataset.

alpha-synuclein and parkin-mediated proteolysis in parkinson`s disease Gene Set

From Biocarta Pathways

proteins participating in the alpha-synuclein and parkin-mediated proteolysis in parkinson`s disease pathway from the Biocarta Pathways dataset.

fosb gene expression and drug abuse Gene Set

From Biocarta Pathways

proteins participating in the fosb gene expression and drug abuse pathway from the Biocarta Pathways dataset.

links between pyk2 and map kinases Gene Set

From Biocarta Pathways

proteins participating in the links between pyk2 and map kinases pathway from the Biocarta Pathways dataset.

opposing roles of aif in apoptosis and cell survival Gene Set

From Biocarta Pathways

proteins participating in the opposing roles of aif in apoptosis and cell survival pathway from the Biocarta Pathways dataset.

degradation of the rar and rxr by the proteasome Gene Set

From Biocarta Pathways

proteins participating in the degradation of the rar and rxr by the proteasome pathway from the Biocarta Pathways dataset.

cadmium induces dna synthesis and proliferation in macrophages Gene Set

From Biocarta Pathways

proteins participating in the cadmium induces dna synthesis and proliferation in macrophages pathway from the Biocarta Pathways dataset.

erk and pi-3 kinase are necessary for collagen binding in corneal epithelia Gene Set

From Biocarta Pathways

proteins participating in the erk and pi-3 kinase are necessary for collagen binding in corneal epithelia pathway from the Biocarta Pathways dataset.

role of brca1 brca2 and atr in cancer susceptibility Gene Set

From Biocarta Pathways

proteins participating in the role of brca1 brca2 and atr in cancer susceptibility pathway from the Biocarta Pathways dataset.

chrebp regulation by carbohydrates and camp Gene Set

From Biocarta Pathways

proteins participating in the chrebp regulation by carbohydrates and camp pathway from the Biocarta Pathways dataset.

pten dependent cell cycle arrest and apoptosis Gene Set

From Biocarta Pathways

proteins participating in the pten dependent cell cycle arrest and apoptosis pathway from the Biocarta Pathways dataset.

induction of apoptosis through dr3 and dr4/5 death receptors Gene Set

From Biocarta Pathways

proteins participating in the induction of apoptosis through dr3 and dr4/5 death receptors pathway from the Biocarta Pathways dataset.

CIITA-18437201-Raji B cells and iDC-human Gene Set

From ChEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the CIITA-18437201-Raji B cells and iDC-human transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

FOXP2-23625967-PFSK-1 AND SK-N-MC-HUMAN Gene Set

From ChEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the FOXP2-23625967-PFSK-1 AND SK-N-MC-HUMAN transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

VDR-23401126-LCL-AND-THP1-HUMAN Gene Set

From ChEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the VDR-23401126-LCL-AND-THP1-HUMAN transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

YY1-23942234-MYOBLASTS AND MYOTUBES-MOUSE Gene Set

From ChEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the YY1-23942234-MYOBLASTS AND MYOTUBES-MOUSE transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

BACH1-22875853-HELA-AND-SCP4-HUMAN Gene Set

From ChEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the BACH1-22875853-HELA-AND-SCP4-HUMAN transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

EZH2-23942234-MYOBLASTS AND MYOTUBES-MOUSE Gene Set

From ChEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the EZH2-23942234-MYOBLASTS AND MYOTUBES-MOUSE transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

Hypothyroidism, central, and testicular enlargement Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypothyroidism, central, and testicular enlargement phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Trifunctional protein deficiency with myopathy and neuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Trifunctional protein deficiency with myopathy and neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Retinal dystrophy, juvenile cataracts, and short stature syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Retinal dystrophy, juvenile cataracts, and short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Foveal hypoplasia and presenile cataract syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Foveal hypoplasia and presenile cataract syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arthrogryposis, mental retardation, and seizures Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arthrogryposis, mental retardation, and seizures phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Vater association with macrocephaly and ventriculomegaly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Vater association with macrocephaly and ventriculomegaly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal hamartomas nephroblastomatosis and fetal gigantism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal hamartomas nephroblastomatosis and fetal gigantism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

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

From ClinVar Gene-Phenotype Associations

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

Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, lactic acidosis, and sideroblastic anemia 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, lactic acidosis, and sideroblastic anemia 1 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.

Ichthyosis, spastic quadriplegia, and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ichthyosis, spastic quadriplegia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypermanganesemia with dystonia, polycythemia and cirrhosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypermanganesemia with dystonia, polycythemia and cirrhosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined cellular and humoral immune defects with granulomas Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined cellular and humoral immune defects with granulomas 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.

Combined d-2- and l-2-hydroxyglutaric aciduria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined d-2- and l-2-hydroxyglutaric aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sinoatrial node dysfunction and deafness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sinoatrial node dysfunction and deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

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

From ClinVar Gene-Phenotype Associations

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

T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Warts, hypogammaglobulinemia, infections, and myelokathexis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Warts, hypogammaglobulinemia, infections, and myelokathexis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fibular hypoplasia and complex brachydactyly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fibular hypoplasia and complex brachydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, anterior maxillary protrusion, and strabismus Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, anterior maxillary protrusion, and strabismus phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile convulsions and paroxysmal choreoathetosis, familial Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile convulsions and paroxysmal choreoathetosis, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short stature, optic nerve atrophy, and pelger-huet anomaly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short stature, optic nerve atrophy, and pelger-huet anomaly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alzheimer disease, familial, 3, with spastic paraparesis and apraxia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alzheimer disease, familial, 3, with spastic paraparesis and apraxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Insulin-resistant diabetes mellitus AND acanthosis nigricans Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Insulin-resistant diabetes mellitus AND acanthosis nigricans phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility 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.

Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Craniofacial anomalies and anterior segment dysgenesis syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniofacial anomalies and anterior segment dysgenesis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness with labyrinthine aplasia microtia and microdontia (LAMM) Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness with labyrinthine aplasia microtia and microdontia (LAMM) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple Cutaneous and Mucosal Venous Malformations Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple Cutaneous and Mucosal Venous Malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neuropathy hereditary sensory and autonomic type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neuropathy hereditary sensory and autonomic type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly with mental retardation and digital anomalies Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly with mental retardation and digital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Peripheral neuropathy, myopathy, hoarseness, and hearing loss Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Peripheral neuropathy, myopathy, hoarseness, and hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Growth retardation, developmental delay, coarse facies, and early death Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Growth retardation, developmental delay, coarse facies, and early death phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Inflammatory skin and bowel disease, neonatal, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Inflammatory skin and bowel disease, neonatal, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Anemia sideroblastic and spinocerebellar ataxia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Anemia sideroblastic and spinocerebellar ataxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Facial dysmorphism, immunodeficiency, livedo, and short stature Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Facial dysmorphism, immunodeficiency, livedo, and short stature 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.

Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infertility associated with multi-tailed spermatozoa and excessive DNA Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infertility associated with multi-tailed spermatozoa and excessive DNA phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Iris coloboma with ptosis, hypertelorism, and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Iris coloboma with ptosis, hypertelorism, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Rigidity and multifocal seizure syndrome, lethal neonatal Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rigidity and multifocal seizure syndrome, lethal neonatal phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alopecia, neurologic defects, and endocrinopathy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alopecia, neurologic defects, and endocrinopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mullerian aplasia and hyperandrogenism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mullerian aplasia and hyperandrogenism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Knuckle pads, deafness AND leukonychia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Knuckle pads, deafness AND leukonychia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Inclusion body myopathy with early-onset paget disease and frontotemporal dementia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Inclusion body myopathy with early-onset paget disease and frontotemporal dementia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multicentric osteolysis, nodulosis and arthropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multicentric osteolysis, nodulosis and arthropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Stapes ankylosis with broad thumb and toes Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Stapes ankylosis with broad thumb and toes phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corneal dystrophy and perceptive deafness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corneal dystrophy and perceptive deafness 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.

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

From ClinVar Gene-Phenotype Associations

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

Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Noonan syndrome and Noonan-related syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome and Noonan-related syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, lactic acidosis, and sideroblastic anemia 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, lactic acidosis, and sideroblastic anemia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neuropathy, hereditary motor and sensory, Okinawa type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neuropathy, hereditary motor and sensory, Okinawa type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly, short stature, and impaired glucose metabolism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, short stature, and impaired glucose metabolism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hemorrhagic destruction of the brain, subependymal calcification, and cataracts Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hemorrhagic destruction of the brain, subependymal calcification, and cataracts phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Jervell and Lange-Nielsen syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Jervell and Lange-Nielsen syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Macrocephaly, alopecia, cutis laxa, and scoliosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Macrocephaly, alopecia, cutis laxa, and scoliosis 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.

Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hirschsprung disease, cardiac defects, and autonomic dysfunction Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hirschsprung disease, cardiac defects, and autonomic dysfunction phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cardiomyopathy dilated with woolly hair and keratoderma Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cardiomyopathy dilated with woolly hair and keratoderma phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arthrogryposis, renal dysfunction, and cholestasis 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arthrogryposis, renal dysfunction, and cholestasis 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract and cardiomyopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract and cardiomyopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Inflammatory skin and bowel disease, neonatal Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Inflammatory skin and bowel disease, neonatal phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract, microphthalmia and nystagmus Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract, microphthalmia and nystagmus phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Foveal hypoplasia and anterior segment dysgenesis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Foveal hypoplasia and anterior segment dysgenesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 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.

Bone fragility with contractures, arterial rupture, and deafness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bone fragility with contractures, arterial rupture, and deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia phenotype from the curated ClinVar Gene-Phenotype 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.

Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor v and factor viii, combined deficiency of, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor v and factor viii, combined deficiency of, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, areflexia, respiratory distress, and dysphagia, early-onset Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, areflexia, respiratory distress, and dysphagia, early-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary Paragangliomas and Pheochromocytomas Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary Paragangliomas and Pheochromocytomas phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked rolandic epilepsy with mental retardation and speech dyspraxia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked rolandic epilepsy with mental retardation and speech dyspraxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Band-like calcification with simplified gyration and polymicrogyria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Band-like calcification with simplified gyration and polymicrogyria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypercarotenemia and vitamin a deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypercarotenemia and vitamin a deficiency, autosomal dominant 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.

Microcephaly, epilepsy, and diabetes syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, epilepsy, and diabetes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia and hypogonadotropic hypogonadism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia and hypogonadotropic hypogonadism 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.

PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epilepsy, X-linked, with variable learning disabilities and behavior disorders Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epilepsy, X-linked, with variable learning disabilities and behavior disorders phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Optic atrophy and cataract, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Optic atrophy and cataract, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract, juvenile, with microcornea and glucosuria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract, juvenile, with microcornea and glucosuria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia, deafness, and narcolepsy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia, deafness, and narcolepsy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Juvenile macular degeneration and hypotrichosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Juvenile macular degeneration and hypotrichosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary motor and sensory neuropathy with optic atrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary motor and sensory neuropathy with optic atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary leiomyomatosis and renal cell cancer Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary leiomyomatosis and renal cell cancer phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Monocyte and dendritic cell deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Monocyte and dendritic cell deficiency, autosomal recessive 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.

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.

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.

Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Jervell and Lange-Nielsen syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Jervell and Lange-Nielsen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined malonic and methylmalonic aciduria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined malonic and methylmalonic aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcornea, myopic chorioretinal atrophy, and telecanthus Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcornea, myopic chorioretinal atrophy, and telecanthus phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glomerulocystic kidney disease with hyperuricemia and isosthenuria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glomerulocystic kidney disease with hyperuricemia and isosthenuria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cutis Gyrata syndrome of Beare and Stevenson Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cutis Gyrata syndrome of Beare and Stevenson phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly and chorioretinopathy, autosomal recessive, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly and chorioretinopathy, autosomal recessive, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corneal intraepithelial dyskeratosis and ectodermal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

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

Aniridia, cerebellar ataxia, and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Aniridia, cerebellar ataxia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked hereditary motor and sensory neuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked hereditary motor and sensory neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Craniosynostosis and dental anomalies Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniosynostosis and dental anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mycobacterial and viral infections, susceptibility to, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mycobacterial and viral infections, susceptibility to, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Obesity, hyperphagia, and developmental delay Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Obesity, hyperphagia, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebroretinal microangiopathy with calcifications and cysts Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebroretinal microangiopathy with calcifications and cysts phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Generalized epilepsy and paroxysmal dyskinesia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Generalized epilepsy and paroxysmal dyskinesia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alacrima, achalasia, and mental retardation syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alacrima, achalasia, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly, normal intelligence and immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, normal intelligence and immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Calcification of joints and arteries Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Calcification of joints and arteries phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypotrichosis and recurrent skin vesicles Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypotrichosis and recurrent skin vesicles phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epidermolysa bullosa simplex and limb girdle muscular dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epidermolysa bullosa simplex and limb girdle muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Psychomotor retardation, epilepsy, and craniofacial dysmorphism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Psychomotor retardation, epilepsy, and craniofacial dysmorphism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

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

From ClinVar Gene-Phenotype Associations

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

Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cutaneous telangiectasia and cancer syndrome, familial Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cutaneous telangiectasia and cancer syndrome, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pineal hyperplasia AND diabetes mellitus syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pineal hyperplasia AND diabetes mellitus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Morbid obesity and spermatogenic failure Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Morbid obesity and spermatogenic failure phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Skeletal defects, genital hypoplasia, and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Skeletal defects, genital hypoplasia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Striatal necrosis, bilateral, and progressive polyneuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Striatal necrosis, bilateral, and progressive polyneuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary sensory and autonomic neuropathy type IIA Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary sensory and autonomic neuropathy type IIA phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopia, high, with cataract and vitreoretinal degeneration Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopia, high, with cataract and vitreoretinal degeneration phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined deficiency of factor V and factor VIII, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined deficiency of factor V and factor VIII, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Camptodactyly, tall stature, and hearing loss syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Camptodactyly, tall stature, and hearing loss syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corneal fragility keratoglobus, blue sclerae AND joint hypermobility phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyogenic arthritis, pyoderma gangrenosum and acne Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyogenic arthritis, pyoderma gangrenosum and acne phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Growth deficiency and mental retardation with facial dysmorphism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Growth deficiency and mental retardation with facial dysmorphism 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.

Deafness, cochlear, with myopia and intellectual impairment Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, cochlear, with myopia and intellectual impairment phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined deficiency of sialidase AND beta galactosidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined deficiency of sialidase AND beta galactosidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked mental retardation with short stature, hypogonadism and abnormal gait Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked mental retardation with short stature, hypogonadism and abnormal gait phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly, postnatal progressive, with seizures and brain atrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, postnatal progressive, with seizures and brain atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Retinal dystrophy, iris coloboma, and comedogenic acne syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Retinal dystrophy, iris coloboma, and comedogenic acne syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

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

From ClinVar Gene-Phenotype Associations

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

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.

Ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

calcium- and calmodulin-dependent protein kinase complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the calcium- and calmodulin-dependent protein kinase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

mrna cleavage and polyadenylation specificity factor complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the mrna cleavage and polyadenylation specificity factor complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

mitochondrial sorting and assembly machinery complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the mitochondrial sorting and assembly machinery complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

calcium- and calmodulin-dependent protein kinase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the calcium- and calmodulin-dependent protein kinase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

cortical layer of collagen and cuticulin-based cuticle extracellular matrix Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the cortical layer of collagen and cuticulin-based cuticle extracellular matrix cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

collagen and cuticulin-based cuticle extracellular matrix Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the collagen and cuticulin-based cuticle extracellular matrix cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

mrna cleavage and polyadenylation specificity factor complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the mrna cleavage and polyadenylation specificity factor complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

collagen and cuticulin-based cuticle extracellular matrix part Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the collagen and cuticulin-based cuticle extracellular matrix part cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

mitochondrial sorting and assembly machinery complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the mitochondrial sorting and assembly machinery complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

TRBP containing complex (DICER, RPL7A, EIF6, MOV10 and subunits of the 60S ribosomal particle) Gene Set

From CORUM Protein Complexes

proteins in the TRBP containing complex (DICER, RPL7A, EIF6, MOV10 and subunits of the 60S ribosomal particle) protein complex from the CORUM Protein Complexes dataset.

NRD complex (Nucleosome remodeling and deacetylation complex) Gene Set

From CORUM Protein Complexes

proteins in the NRD complex (Nucleosome remodeling and deacetylation complex) protein complex from the CORUM Protein Complexes dataset.

6S methyltransferase and RG-containing Sm proteins complex Gene Set

From CORUM Protein Complexes

proteins in the 6S methyltransferase and RG-containing Sm proteins complex protein complex from the CORUM Protein Complexes dataset.

Remodeling and spacing factor (RSF) complex Gene Set

From CORUM Protein Complexes

proteins in the Remodeling and spacing factor (RSF) complex protein complex from the CORUM Protein Complexes dataset.

PBAF complex (Polybromo- and BAF containing complex) Gene Set

From CORUM Protein Complexes

proteins in the PBAF complex (Polybromo- and BAF containing complex) protein complex from the CORUM Protein Complexes dataset.

Cleavage and polyadenylation factor (CPSF) Gene Set

From CORUM Protein Complexes

proteins in the Cleavage and polyadenylation factor (CPSF) protein complex from the CORUM Protein Complexes dataset.

Apoptosis- and splicing-associated protein complex (ASAP-L), SAP18-RNPS1-Acinus-L Gene Set

From CORUM Protein Complexes

proteins in the Apoptosis- and splicing-associated protein complex (ASAP-L), SAP18-RNPS1-Acinus-L protein complex from the CORUM Protein Complexes dataset.

Respiratory chain complex I (intermediate I/200kD and III/250kD), mitochondrial Gene Set

From CORUM Protein Complexes

proteins in the Respiratory chain complex I (intermediate I/200kD and III/250kD), mitochondrial protein complex from the CORUM Protein Complexes dataset.

Nucleic and chromatin Fanconi complex Gene Set

From CORUM Protein Complexes

proteins in the Nucleic and chromatin Fanconi complex protein complex from the CORUM Protein Complexes dataset.

Respiratory chain complex I (intermediate V/380kD and VI/480kD), mitochondrial Gene Set

From CORUM Protein Complexes

proteins in the Respiratory chain complex I (intermediate V/380kD and VI/480kD), mitochondrial protein complex from the CORUM Protein Complexes dataset.

Apoptosis- and splicing-associated protein complex (ASAP-S), SAP18-RNPS1-Acinus-S Gene Set

From CORUM Protein Complexes

proteins in the Apoptosis- and splicing-associated protein complex (ASAP-S), SAP18-RNPS1-Acinus-S protein complex from the CORUM Protein Complexes dataset.

ATP-utilizing chromatin assembly and remodeling factor (hACF) complex Gene Set

From CORUM Protein Complexes

proteins in the ATP-utilizing chromatin assembly and remodeling factor (hACF) complex protein complex from the CORUM Protein Complexes dataset.

20S methylosome and RG-containing Sm protein complex Gene Set

From CORUM Protein Complexes

proteins in the 20S methylosome and RG-containing Sm protein complex protein complex from the CORUM Protein Complexes dataset.

Amino Acids, Peptides, and Proteins Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Amino Acids, Peptides, and Proteins from the curated CTD Gene-Chemical Interactions dataset.

Bile Acids and Salts Gene Set

From CTD Gene-Chemical Interactions

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

Prime and Bond NT Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Prime and Bond NT from the curated CTD Gene-Chemical Interactions dataset.

drospirenone and ethinyl estradiol combination Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical drospirenone and ethinyl estradiol combination from the curated CTD Gene-Chemical Interactions dataset.

Hypophosphatemic Rickets And Hyperparathyroidism Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypophosphatemic Rickets And Hyperparathyroidism from the curated CTD Gene-Disease Associations dataset.

Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation from the curated CTD Gene-Disease Associations dataset.

Fibular hypoplasia and complex brachydactyly Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Fibular hypoplasia and complex brachydactyly from the curated CTD Gene-Disease Associations dataset.

Synovitis granulomatous with uveitis and cranial neuropathies Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Synovitis granulomatous with uveitis and cranial neuropathies from the curated CTD Gene-Disease Associations dataset.

MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS from the curated CTD Gene-Disease Associations dataset.

Hereditary Sensory and Motor Neuropathy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hereditary Sensory and Motor Neuropathy from the curated CTD Gene-Disease Associations dataset.

Preaxial deficiency, postaxial polydactyly and hypospadias Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Preaxial deficiency, postaxial polydactyly and hypospadias from the curated CTD Gene-Disease Associations dataset.

Combined Cellular And Humoral Immune Defects With Granulomas Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Cellular And Humoral Immune Defects With Granulomas from the curated CTD Gene-Disease Associations dataset.

OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS from the curated CTD Gene-Disease Associations dataset.

Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia from the curated CTD 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.

Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp from the curated CTD Gene-Disease Associations dataset.

Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis from the curated CTD Gene-Disease Associations dataset.

Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma from the curated CTD Gene-Disease Associations dataset.

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

From CTD Gene-Disease Associations

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

OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS from the curated CTD Gene-Disease Associations dataset.

Neuropathy, Hereditary Sensory And Autonomic, Type IIB Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuropathy, Hereditary Sensory And Autonomic, Type IIB from the curated CTD Gene-Disease Associations dataset.

Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome from the curated CTD Gene-Disease Associations dataset.

46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS from the curated CTD Gene-Disease Associations dataset.

Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease from the curated CTD Gene-Disease Associations dataset.

Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress from the curated CTD Gene-Disease Associations dataset.

Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis from the curated CTD Gene-Disease Associations dataset.

Craniosynostosis, anal anomalies, and porokeratosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Craniosynostosis, anal anomalies, and porokeratosis from the curated CTD Gene-Disease Associations dataset.

Sacral defect and anterior sacral meningocele Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Sacral defect and anterior sacral meningocele from the curated CTD Gene-Disease Associations dataset.

Classical Lissencephalies and Subcortical Band Heterotopias Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Classical Lissencephalies and Subcortical Band Heterotopias from the curated CTD Gene-Disease Associations dataset.

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

From CTD Gene-Disease Associations

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

Optic atrophy 1 and deafness Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Optic atrophy 1 and deafness from the curated CTD Gene-Disease Associations dataset.

Neuropathy, hereditary motor and sensory, Russe type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuropathy, hereditary motor and sensory, Russe type from the curated CTD Gene-Disease Associations dataset.

Blepharophimosis, Ptosis, and Epicanthus Inversus Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Blepharophimosis, Ptosis, and Epicanthus Inversus from the curated CTD Gene-Disease Associations dataset.

Hypotrichosis And Recurrent Skin Vesicles Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypotrichosis And Recurrent Skin Vesicles from the curated CTD Gene-Disease Associations dataset.

Signs and Symptoms, Digestive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Signs and Symptoms, Digestive from the curated CTD Gene-Disease Associations dataset.

Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia from the curated CTD Gene-Disease Associations dataset.

Methylmalonic Aciduria and Homocystinuria, CblD Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylmalonic Aciduria and Homocystinuria, CblD Type from the curated CTD Gene-Disease Associations dataset.

Head and Neck Neoplasms Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Head and Neck Neoplasms 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.

Cataract, Juvenile, With Microcornea And Glucosuria Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cataract, Juvenile, With Microcornea And Glucosuria from the curated CTD Gene-Disease Associations dataset.

HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER from the curated CTD Gene-Disease Associations dataset.

Venous Malformations, Multiple Cutaneous and Mucosal Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Venous Malformations, Multiple Cutaneous and Mucosal from the curated CTD Gene-Disease Associations dataset.

BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA from the curated CTD Gene-Disease Associations dataset.

Postoperative Nausea and Vomiting Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Postoperative Nausea and Vomiting from the curated CTD Gene-Disease Associations dataset.

Myopathy with lactic acidosis and sideroblastic anemia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy with lactic acidosis and sideroblastic anemia from the curated CTD Gene-Disease Associations dataset.

Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells from the curated CTD Gene-Disease Associations dataset.

Trifunctional Protein Deficiency With Myopathy And Neuropathy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Trifunctional Protein Deficiency With Myopathy And Neuropathy from the curated CTD Gene-Disease Associations dataset.

MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY from the curated CTD Gene-Disease Associations dataset.

Keratitis, Ichthyosis, and Deafness (KID) Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Keratitis, Ichthyosis, and Deafness (KID) Syndrome from the curated CTD Gene-Disease Associations dataset.

Bifid Nose With Or Without Anorectal And Renal Anomalies Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Bifid Nose With Or Without Anorectal And Renal Anomalies 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.

Corneal dystrophy and perceptive deafness Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corneal dystrophy and perceptive deafness from the curated CTD Gene-Disease Associations dataset.

VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY from the curated CTD Gene-Disease Associations dataset.

Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Skeletal Dysplasia, and Abducens Palsy Gene Set

From CTD Gene-Disease Associations

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

Hypopituitarism and septooptic 'dysplasia' Gene Set

From CTD Gene-Disease Associations

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

PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL from the curated CTD Gene-Disease Associations dataset.

Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps from the curated CTD Gene-Disease Associations dataset.

Aplasia of Lacrimal and Salivary Glands Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Aplasia of Lacrimal and Salivary Glands from the curated CTD Gene-Disease Associations dataset.

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA from the curated CTD Gene-Disease Associations dataset.

Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities from the curated CTD Gene-Disease Associations dataset.

MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY from the curated CTD Gene-Disease Associations dataset.

Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria from the curated CTD Gene-Disease Associations dataset.

Calcification of Joints and Arteries Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Calcification of Joints and Arteries from the curated CTD Gene-Disease Associations dataset.

CHOANAL ATRESIA AND LYMPHEDEMA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CHOANAL ATRESIA AND LYMPHEDEMA from the curated CTD Gene-Disease Associations dataset.

Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis from the curated CTD Gene-Disease Associations dataset.

Hereditary Motor And Sensory Neuropathy, Type IIC Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hereditary Motor And Sensory Neuropathy, Type IIC from the curated CTD Gene-Disease Associations dataset.

Asthma, Nasal Polyps, And Aspirin Intolerance Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Asthma, Nasal Polyps, And Aspirin Intolerance from the curated CTD Gene-Disease Associations dataset.

Neoplasms, Germ Cell and Embryonal Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neoplasms, Germ Cell and Embryonal from the curated CTD Gene-Disease Associations dataset.

Hereditary Motor And Sensory Neuropathy VI Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hereditary Motor And Sensory Neuropathy VI from the curated CTD Gene-Disease Associations dataset.

Cutis Gyrata Syndrome of Beare And Stevenson Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cutis Gyrata Syndrome of Beare And Stevenson 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.

Wounds and Injuries Gene Set

From CTD Gene-Disease Associations

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

Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration from the curated CTD Gene-Disease Associations dataset.

Sleep Initiation and Maintenance Disorders Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Sleep Initiation and Maintenance Disorders from the curated CTD Gene-Disease Associations dataset.

Methylmalonic Aciduria and Homocystinuria, CblF Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylmalonic Aciduria and Homocystinuria, CblF Type from the curated CTD Gene-Disease Associations dataset.

Scaphocephaly, Maxillary Retrusion, And Mental Retardation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Scaphocephaly, Maxillary Retrusion, And Mental Retardation from the curated CTD Gene-Disease Associations dataset.

Cataract and cardiomyopathy Gene Set

From CTD Gene-Disease Associations

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

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA from the curated CTD Gene-Disease Associations dataset.

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 from the curated CTD Gene-Disease Associations dataset.

Neuropathy, hereditary motor and sensory, Okinawa type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuropathy, hereditary motor and sensory, Okinawa type from the curated CTD Gene-Disease Associations dataset.

Spastic Paraplegia, Optic Atrophy, and Neuropathy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic Paraplegia, Optic Atrophy, and Neuropathy from the curated CTD Gene-Disease Associations dataset.

Generalized Epilepsy and Paroxysmal Dyskinesia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Generalized Epilepsy and Paroxysmal Dyskinesia from the curated CTD Gene-Disease Associations dataset.

Hereditary Breast and Ovarian Cancer Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hereditary Breast and Ovarian Cancer Syndrome from the curated CTD Gene-Disease Associations dataset.

Keratosis palmoplantaris with periodontopathia and onychogryposis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Keratosis palmoplantaris with periodontopathia and onychogryposis from the curated CTD Gene-Disease Associations dataset.

Intracranial Embolism and Thrombosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Intracranial Embolism and Thrombosis from the curated CTD Gene-Disease Associations dataset.

LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY from the curated CTD Gene-Disease Associations dataset.

Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract from the curated CTD Gene-Disease Associations dataset.

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 from the curated CTD Gene-Disease Associations dataset.

Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma from the curated CTD Gene-Disease Associations dataset.

Nevi and Melanomas Gene Set

From CTD Gene-Disease Associations

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

Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders from the curated CTD Gene-Disease Associations dataset.

Attention Deficit and Disruptive Behavior Disorders Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Attention Deficit and Disruptive Behavior Disorders from the curated CTD Gene-Disease Associations dataset.

Cardiomyopathy dilated with Woolly hair and keratoderma Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cardiomyopathy dilated with Woolly hair and keratoderma from the curated CTD Gene-Disease Associations dataset.

Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism from the curated CTD Gene-Disease Associations dataset.

Optic atrophy and cataract, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Optic atrophy and cataract, autosomal dominant 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.

Skeletal Defects, Genital Hypoplasia, And Mental Retardation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Skeletal Defects, Genital Hypoplasia, And Mental Retardation from the curated CTD Gene-Disease Associations dataset.

Hypermanganesemia with Dystonia Polycythemia and Cirrhosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypermanganesemia with Dystonia Polycythemia and Cirrhosis from the curated CTD Gene-Disease Associations dataset.

Juvenile macular degeneration and hypotrichosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Juvenile macular degeneration and hypotrichosis from the curated CTD Gene-Disease Associations dataset.

ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS from the curated CTD Gene-Disease Associations dataset.

Mullerian Aplasia and Hyperandrogenism Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mullerian Aplasia and Hyperandrogenism 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.

Esophageal and Gastric Varices Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Esophageal and Gastric Varices from the curated CTD Gene-Disease Associations dataset.

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC from the curated CTD Gene-Disease Associations dataset.

Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked from the curated CTD Gene-Disease Associations dataset.

Carcinoma, squamous cell of head and neck Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carcinoma, squamous cell of head and neck 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.

Extravasation of Diagnostic and Therapeutic Materials Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Extravasation of Diagnostic and Therapeutic Materials from the curated CTD Gene-Disease Associations dataset.

Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis from the curated CTD Gene-Disease Associations dataset.

Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 from the curated CTD Gene-Disease Associations dataset.

Knuckle pads, leuconychia and sensorineural deafness Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Knuckle pads, leuconychia and sensorineural deafness from the curated CTD Gene-Disease Associations dataset.

Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation from the curated CTD Gene-Disease Associations dataset.

Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked from the curated CTD Gene-Disease Associations dataset.

Hyperekplexia and Epilepsy Gene Set

From CTD Gene-Disease Associations

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

Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia from the curated CTD Gene-Disease 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.

Iris hypoplasia and glaucoma Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Iris hypoplasia and glaucoma from the curated CTD Gene-Disease Associations dataset.

NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT from the curated CTD Gene-Disease Associations dataset.

Sarcoma family syndrome of Li and Fraumeni Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Sarcoma family syndrome of Li and Fraumeni from the curated CTD Gene-Disease Associations dataset.

PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS from the curated CTD Gene-Disease Associations dataset.

Nephropathy with Pretibial Epidermolysis Bullosa and Deafness Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nephropathy with Pretibial Epidermolysis Bullosa and Deafness from the curated CTD Gene-Disease Associations dataset.

Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome from the curated CTD Gene-Disease Associations dataset.

Lipoid Proteinosis of Urbach and Wiethe Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lipoid Proteinosis of Urbach and Wiethe from the curated CTD Gene-Disease Associations dataset.

Hypertelorism with esophageal abnormality and hypospadias Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypertelorism with esophageal abnormality and hypospadias from the curated CTD Gene-Disease Associations dataset.

Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis from the curated CTD Gene-Disease Associations dataset.

Bone Fragility with Contractures, Arterial Rupture, and Deafness Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Bone Fragility with Contractures, Arterial Rupture, and Deafness from the curated CTD Gene-Disease Associations dataset.

Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis from the curated CTD Gene-Disease Associations dataset.

Jervell And Lange-Nielsen Syndrome 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Jervell And Lange-Nielsen Syndrome 2 from the curated CTD Gene-Disease Associations dataset.

Neoplasms, Glandular and Epithelial Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neoplasms, Glandular and Epithelial from the curated CTD Gene-Disease Associations dataset.

Ectodermal dysplasia, ectrodactyly, and macular dystrophy Gene Set

From CTD Gene-Disease Associations

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

Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Alopecia, Neurologic Defects, and Endocrinopathy Syndrome from the curated CTD Gene-Disease Associations dataset.

Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness from the curated CTD Gene-Disease Associations dataset.

Early-onset ataxia with oculomotor apraxia and hypoalbuminemia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Early-onset ataxia with oculomotor apraxia and hypoalbuminemia from the curated CTD Gene-Disease Associations dataset.