X-linked recessive ocular albinism

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Results for "X-linked recessive ocular albinism": 1000+ gene sets

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Autosomal Recessive Ocular Albinism Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Ocular Albinism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Ocular albinism, type I Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ocular albinism, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ocular Albinism type 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Ocular Albinism type 1 from the curated CTD Gene-Disease Associations dataset.
Albinism ocular late onset sensorineural deafness Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Albinism ocular late onset sensorineural deafness from the curated CTD Gene-Disease Associations dataset.
ocular albinism Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease ocular albinism from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
ocular albinism Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease ocular albinism in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
ocular albinism Gene Set From GAD Gene-Disease Associations genes associated with the disease ocular albinism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
ocular albinism Gene Set From HPO Gene-Disease Associations genes associated with the ocular albinism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
Albinism, Ocular Gene Set From HuGE Navigator Gene-Phenotype Associations genes associated with the Albinism, Ocular phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
Ocular albinism protein, type 1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Ocular albinism protein, type 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ocular albinism Gene Set From MPO Gene-Phenotype Associations gene mutations causing the ocular albinism phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
ocular albinism, type i, nettleship-falls type Gene Set From OMIM Gene-Disease Associations genes associated with the ocular albinism, type i, nettleship-falls type phenotype from the curated OMIM Gene-Disease Associations dataset.
ocular albinism with sensorineural deafness Gene Set From OMIM Gene-Disease Associations genes associated with the ocular albinism with sensorineural deafness phenotype from the curated OMIM Gene-Disease Associations dataset.
waardenburg syndrome/ocular albinism, digenic Gene Set From OMIM Gene-Disease Associations genes associated with the waardenburg syndrome/ocular albinism, digenic phenotype from the curated OMIM Gene-Disease Associations dataset.
Albinism, Ocular Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Albinism, Ocular in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Ocular Albinism Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Ocular Albinism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
ocular albinism Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the ocular albinism phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
Ocular albinism 1 Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Ocular albinism 1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Ocular albinism 1 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ocular albinism 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Ocular albinism with sensorineural deafness Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ocular albinism with sensorineural deafness in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Ocular albinism Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Ocular albinism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
chorioretinitis; ocular toxoplasmosis; toxoplasmosis, ocular Gene Set From GAD Gene-Disease Associations genes associated with the disease chorioretinitis; ocular toxoplasmosis; toxoplasmosis, ocular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
ocular toxoplasmosis; toxoplasmosis, ocular Gene Set From GAD Gene-Disease Associations genes associated with the disease ocular toxoplasmosis; toxoplasmosis, ocular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
Ocular coloboma, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ocular coloboma, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
?coloboma, ocular, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the ?coloboma, ocular, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
Tyrosinase-negative oculocutaneous albinism Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Tyrosinase-negative oculocutaneous albinism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Tyrosinase-positive oculocutaneous albinism Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Tyrosinase-positive oculocutaneous albinism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Oculocutaneous albinism type 7 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Oculocutaneous albinism type 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Oculocutaneous albinism type 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Oculocutaneous albinism type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Partial albinism Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Partial albinism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Oculocutaneous albinism type 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Oculocutaneous albinism type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Oculocutaneous albinism type 1B Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Oculocutaneous albinism type 1B 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.
Albinism, Oculocutaneous Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Albinism, Oculocutaneous from the curated CTD Gene-Disease Associations dataset.
Albinism deafness syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Albinism deafness syndrome from the curated CTD Gene-Disease Associations dataset.
Oculocutaneous Albinism, Type IV Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Oculocutaneous Albinism, Type IV from the curated CTD Gene-Disease Associations dataset.
Oculocutaneous albinism type 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Oculocutaneous albinism type 2 from the curated CTD Gene-Disease Associations dataset.
Oculocutaneous albinism type 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Oculocutaneous albinism type 3 from the curated CTD Gene-Disease Associations dataset.
Oculocutaneous albinism type 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Oculocutaneous albinism type 1 from the curated CTD Gene-Disease Associations dataset.
oculocutaneous albinism Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease oculocutaneous albinism from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
oculocutaneous albinism Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease oculocutaneous albinism in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
albinism, oculocutaneous Gene Set From GAD Gene-Disease Associations genes associated with the disease albinism, oculocutaneous in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
type ib (yellow) oculocutaneous albinism Gene Set From GAD Gene-Disease Associations genes associated with the disease type ib (yellow) oculocutaneous albinism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
oculocutaneous albinism Gene Set From GAD Gene-Disease Associations genes associated with the disease oculocutaneous albinism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
oculocutaneous albinism type 4 Gene Set From GAD Gene-Disease Associations genes associated with the disease oculocutaneous albinism type 4 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
oculocutaneous albinism type 2 Gene Set From GAD Gene-Disease Associations genes associated with the disease oculocutaneous albinism type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
type i-a (tyrosinase-negative) oculocutaneous albinism Gene Set From GAD Gene-Disease Associations genes associated with the disease type i-a (tyrosinase-negative) oculocutaneous albinism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
albinism Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term albinism in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
albinism Gene Set From HPO Gene-Disease Associations genes associated with the albinism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
partial albinism Gene Set From HPO Gene-Disease Associations genes associated with the partial albinism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
Albinism Gene Set From HuGE Navigator Gene-Phenotype Associations genes associated with the Albinism phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
Albinism, Oculocutaneous Gene Set From HuGE Navigator Gene-Phenotype Associations genes associated with the Albinism, Oculocutaneous phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
{albinism, oculocutaneous, type ii, modifier of} Gene Set From OMIM Gene-Disease Associations genes associated with the {albinism, oculocutaneous, type ii, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset.
albinism, oculocutaneous, type vii Gene Set From OMIM Gene-Disease Associations genes associated with the albinism, oculocutaneous, type vii phenotype from the curated OMIM Gene-Disease Associations dataset.
waardenburg syndrome/albinism, digenic Gene Set From OMIM Gene-Disease Associations genes associated with the waardenburg syndrome/albinism, digenic phenotype from the curated OMIM Gene-Disease Associations dataset.
albinism-deafness syndrome Gene Set From OMIM Gene-Disease Associations genes associated with the albinism-deafness syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.
albinism, oculocutaneous, type iv Gene Set From OMIM Gene-Disease Associations genes associated with the albinism, oculocutaneous, type iv phenotype from the curated OMIM Gene-Disease Associations dataset.
albinism, oculocutaneous, type ia Gene Set From OMIM Gene-Disease Associations genes associated with the albinism, oculocutaneous, type ia phenotype from the curated OMIM Gene-Disease Associations dataset.
albinism, oculocutaneous, type ii Gene Set From OMIM Gene-Disease Associations genes associated with the albinism, oculocutaneous, type ii phenotype from the curated OMIM Gene-Disease Associations dataset.
albinism, oculocutaneous, type v Gene Set From OMIM Gene-Disease Associations genes associated with the albinism, oculocutaneous, type v phenotype from the curated OMIM Gene-Disease Associations dataset.
albinism, oculocutaneous, type ib Gene Set From OMIM Gene-Disease Associations genes associated with the albinism, oculocutaneous, type ib phenotype from the curated OMIM Gene-Disease Associations dataset.
albinism, brown oculocutaneous Gene Set From OMIM Gene-Disease Associations genes associated with the albinism, brown oculocutaneous phenotype from the curated OMIM Gene-Disease Associations dataset.
albinism, oculocutaneous, type vi Gene Set From OMIM Gene-Disease Associations genes associated with the albinism, oculocutaneous, type vi phenotype from the curated OMIM Gene-Disease Associations dataset.
tietz albinism-deafness syndrome Gene Set From OMIM Gene-Disease Associations genes associated with the tietz albinism-deafness syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.
albinism, oculocutaneous, type iii Gene Set From OMIM Gene-Disease Associations genes associated with the albinism, oculocutaneous, type iii phenotype from the curated OMIM Gene-Disease Associations dataset.
Oculocutaneous Albinism Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Oculocutaneous Albinism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Albinism Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Albinism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Albinism, Oculocutaneous Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Albinism, Oculocutaneous in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Albinism, Tyrosinase-Negative Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Albinism, Tyrosinase-Negative in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Albinism, Tyrosinase-Positive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Albinism, Tyrosinase-Positive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Brown Oculocutaneous Albinism Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Brown Oculocutaneous Albinism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Dominant Oculocutaneous Albinism Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Dominant Oculocutaneous Albinism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Yellow Mutant Oculocutaneous Albinism Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Yellow Mutant Oculocutaneous Albinism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Oculocutaneous Albinism, Type Ii, Modifier Of Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Oculocutaneous Albinism, Type Ii, Modifier Of in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Albinism, Yellow-Mutant Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Albinism, Yellow-Mutant in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6) pathway from the Reactome Pathways 2024 dataset.
Oculocutaneous albinism Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Oculocutaneous albinism from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Oculocutaneous albinism Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Oculocutaneous albinism in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Oculocutaneous albinism type IA Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Oculocutaneous albinism type IA in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Oculocutaneous albinism type II Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Oculocutaneous albinism type II in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Oculocutaneous albinism type III Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Oculocutaneous albinism type III in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Oculocutaneous albinism type IV Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Oculocutaneous albinism type IV in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Oculocutaneous albinism type IB Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Oculocutaneous albinism type IB in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Tyrosinase-positive oculocutaneous albinism Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Tyrosinase-positive oculocutaneous albinism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Oculocutaneous albinism Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Oculocutaneous albinism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Albinism or congenital nystagmus Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Albinism or congenital nystagmus phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Nonsyndromic Oculocutaneous Albinism Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Nonsyndromic Oculocutaneous Albinism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Albinism Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Albinism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Temperature-sensitive oculocutaneous albinism Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Temperature-sensitive oculocutaneous albinism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hypomagnesemia 5, renal, with ocular involvement Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hypomagnesemia 5, renal, with ocular involvement phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Nephrotic syndrome, type 5, with or without ocular abnormalities Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Nephrotic syndrome, type 5, with or without ocular abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Congenital ocular coloboma Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Congenital ocular coloboma phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR Gene Set From ClinVar Gene-Phenotype Associations genes associated with the STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR 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.
Cystinosis, ocular nonnephropathic Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cystinosis, ocular nonnephropathic phenotype from the curated ClinVar Gene-Phenotype 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.
Ocular Hypertension Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Ocular Hypertension from the curated CTD Gene-Disease Associations dataset.
Hypomagnesemia 5, Renal, with Ocular Involvement Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hypomagnesemia 5, Renal, with Ocular Involvement from the curated CTD Gene-Disease Associations dataset.
Ocular Motility Disorders Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Ocular Motility Disorders 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.
Cystinosis, ocular nonnephropathic Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cystinosis, ocular nonnephropathic from the curated CTD Gene-Disease Associations dataset.
Stickler Syndrome, Type I, Nonsyndromic Ocular Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Stickler Syndrome, Type I, Nonsyndromic Ocular from the curated CTD Gene-Disease Associations dataset.
Ocular Physiological Phenomena Gene Set From dbGAP Gene-Trait Associations genes associated with the trait Ocular Physiological Phenomena in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
ocular motility disease Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease ocular motility disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
ocular cancer Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease ocular cancer from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
spontaneous ocular nystagmus Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease spontaneous ocular nystagmus in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
ocular motility disease Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease ocular motility disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
ocular hypotension Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease ocular hypotension in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
ocular cancer Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease ocular cancer in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
ocular hyperemia Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease ocular hyperemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
ocular hypertension Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease ocular hypertension in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
ocular melanoma Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease ocular melanoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
toxoplasmosis, ocular Gene Set From GAD Gene-Disease Associations genes associated with the disease toxoplasmosis, ocular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
radiation-induced ocular telangiectasia Gene Set From GAD Gene-Disease Associations genes associated with the disease radiation-induced ocular telangiectasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
toxoplasmosis, cerebral; toxoplasmosis, congenital; toxoplasmosis, ocular Gene Set From GAD Gene-Disease Associations genes associated with the disease toxoplasmosis, cerebral; toxoplasmosis, congenital; toxoplasmosis, ocular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
ocular cicatricial pemphigoid Gene Set From GAD Gene-Disease Associations genes associated with the disease ocular cicatricial pemphigoid in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
ocular histoplasmosis syndrome Gene Set From GAD Gene-Disease Associations genes associated with the disease ocular histoplasmosis syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
bradycardia; glaucoma, open-angle; ocular hypertension Gene Set From GAD Gene-Disease Associations genes associated with the disease bradycardia; glaucoma, open-angle; ocular hypertension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
chorioretinitis; toxoplasmosis, ocular Gene Set From GAD Gene-Disease Associations genes associated with the disease chorioretinitis; toxoplasmosis, ocular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
classical ocular phenotype Gene Set From GAD Gene-Disease Associations genes associated with the disease classical ocular phenotype in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
digeorge syndrome; ocular motility disorders Gene Set From GAD Gene-Disease Associations genes associated with the disease digeorge syndrome; ocular motility disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
refractive error and ocular biometrics Gene Set From GAD Gene-Disease Associations genes associated with the disease refractive error and ocular biometrics in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
leber congenital amaurosis and a normal ocular phenotype Gene Set From GAD Gene-Disease Associations genes associated with the disease leber congenital amaurosis and a normal ocular phenotype in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
glaucoma, open-angle; low tension glaucoma; ocular hypertension Gene Set From GAD Gene-Disease Associations genes associated with the disease glaucoma, open-angle; low tension glaucoma; ocular hypertension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
disorder of the optic nerve; glaucoma, open-angle; ocular hypertension; optic nerve diseases Gene Set From GAD Gene-Disease Associations genes associated with the disease disorder of the optic nerve; glaucoma, open-angle; ocular hypertension; optic nerve diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
ocular physiological phenomena Gene Set From GAD Gene-Disease Associations genes associated with the disease ocular physiological phenomena in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
glaucoma, open-angle; ocular hypertension Gene Set From GAD Gene-Disease Associations genes associated with the disease glaucoma, open-angle; ocular hypertension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
ocular Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term ocular in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
abnormal vestibulo-ocular reflex Gene Set From HPO Gene-Disease Associations genes associated with the abnormal vestibulo-ocular reflex phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
abnormality of ocular abduction Gene Set From HPO Gene-Disease Associations genes associated with the abnormality of ocular abduction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
impaired ocular adduction Gene Set From HPO Gene-Disease Associations genes associated with the impaired ocular adduction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
jerky ocular pursuit movements Gene Set From HPO Gene-Disease Associations genes associated with the jerky ocular pursuit movements phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
impaired ocular abduction Gene Set From HPO Gene-Disease Associations genes associated with the impaired ocular abduction phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
abnormality of the ocular region Gene Set From HPO Gene-Disease Associations genes associated with the abnormality of the ocular region phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
abnormality of ocular smooth pursuit Gene Set From HPO Gene-Disease Associations genes associated with the abnormality of ocular smooth pursuit phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
ocular pain Gene Set From HPO Gene-Disease Associations genes associated with the ocular pain phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
Ocular Hypertension Gene Set From HuGE Navigator Gene-Phenotype Associations genes associated with the Ocular Hypertension phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
Ocular Motility Disorders Gene Set From HuGE Navigator Gene-Phenotype Associations genes associated with the Ocular Motility Disorders phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
ocular pterygium Gene Set From MPO Gene-Phenotype Associations gene mutations causing the ocular pterygium phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
ocular hypertelorism Gene Set From MPO Gene-Phenotype Associations gene mutations causing the ocular hypertelorism phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
ocular rupture Gene Set From MPO Gene-Phenotype Associations gene mutations causing the ocular rupture phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
abnormal ocular fundus morphology Gene Set From MPO Gene-Phenotype Associations gene mutations causing the abnormal ocular fundus morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
ocular distichiasis Gene Set From MPO Gene-Phenotype Associations gene mutations causing the ocular distichiasis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
ocular hypotension Gene Set From MPO Gene-Phenotype Associations gene mutations causing the ocular hypotension phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
ocular hypertension Gene Set From MPO Gene-Phenotype Associations gene mutations causing the ocular hypertension phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
ocular hypotelorism Gene Set From MPO Gene-Phenotype Associations gene mutations causing the ocular hypotelorism phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
brain small vessel disease with or without ocular anomalies Gene Set From OMIM Gene-Disease Associations genes associated with the brain small vessel disease with or without ocular anomalies phenotype from the curated OMIM Gene-Disease Associations dataset.
hypomagnesemia 5, renal, with ocular involvement Gene Set From OMIM Gene-Disease Associations genes associated with the hypomagnesemia 5, renal, with ocular involvement phenotype from the curated OMIM Gene-Disease Associations dataset.
corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia Gene Set From OMIM Gene-Disease Associations genes associated with the corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia phenotype from the curated OMIM Gene-Disease Associations dataset.
stickler sydrome, type i, nonsyndromic ocular Gene Set From OMIM Gene-Disease Associations genes associated with the stickler sydrome, type i, nonsyndromic ocular phenotype from the curated OMIM Gene-Disease Associations dataset.
ataxia-ocular apraxia-2 Gene Set From OMIM Gene-Disease Associations genes associated with the ataxia-ocular apraxia-2 phenotype from the curated OMIM Gene-Disease Associations dataset.
coloboma, ocular Gene Set From OMIM Gene-Disease Associations genes associated with the coloboma, ocular phenotype from the curated OMIM Gene-Disease Associations dataset.
cystinosis, ocular nonnephropathic Gene Set From OMIM Gene-Disease Associations genes associated with the cystinosis, ocular nonnephropathic phenotype from the curated OMIM Gene-Disease Associations dataset.
renal tubular acidosis, proximal, with ocular abnormalities Gene Set From OMIM Gene-Disease Associations genes associated with the renal tubular acidosis, proximal, with ocular abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset.
corneal opacification and other ocular anomalies Gene Set From OMIM Gene-Disease Associations genes associated with the corneal opacification and other ocular anomalies 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.
nephrotic syndrome, type 5, with or without ocular abnormalities Gene Set From OMIM Gene-Disease Associations genes associated with the nephrotic syndrome, type 5, with or without ocular abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset.
Eye-ocular surface cell Gene Set From Tabula Sapiens Gene-Cell Associations genes with high or low expression in Eye-ocular surface cell relative to other cell types from the Tabula Sapiens Gene-Cell Associations dataset.
Congenital Ocular Coloboma (Disorder) Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Congenital Ocular Coloboma (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Ocular Hypertension Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Ocular Hypertension in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Ocular Hypotension Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Ocular Hypotension in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Myasthenia Gravis, Ocular Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Myasthenia Gravis, Ocular in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Ocular Rosacea Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Ocular Rosacea in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Ocular Cicatricial Pemphigoid Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Ocular Cicatricial Pemphigoid in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Ocular Toxoplasmosis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Ocular Toxoplasmosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Spondylo-Ocular Syndrome Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Spondylo-Ocular Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Metastatic Ocular Melanoma Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Metastatic Ocular Melanoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Ocular Melanosis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Ocular Melanosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Ocular Adnexal Lymphoma Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Ocular Adnexal Lymphoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Ocular Adnexal Mucosa-Associated Lymphoid Tissue Lymphoma Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Ocular Adnexal Mucosa-Associated Lymphoid Tissue Lymphoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Microphthalmos Co-Occurrent With Congenital Ocular Coloboma Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Microphthalmos Co-Occurrent With Congenital Ocular Coloboma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Abnormal Vestibulo-Ocular Reflex Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Abnormal Vestibulo-Ocular Reflex in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Ocular Surface Disease Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Ocular Surface Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Jejunal Atresia With Microcephaly And Ocular Anomalies Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Jejunal Atresia With Microcephaly And Ocular Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Ocular Sarcoidosis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Ocular Sarcoidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Stickler Syndrome, Type I, Nonsyndromic Ocular Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Stickler Syndrome, Type I, Nonsyndromic Ocular in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Ocular Syphilis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Ocular Syphilis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Ocular Muscular Dystrophy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Ocular Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Onchocerciasis, Ocular Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Onchocerciasis, Ocular in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Presumed Ocular Histoplasmosis Syndrome Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Presumed Ocular Histoplasmosis Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Paraneoplastic Syndromes, Ocular Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Paraneoplastic Syndromes, Ocular in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Ocular Discomfort Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Ocular Discomfort in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Ocular Larva Migrans Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Ocular Larva Migrans in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Spontaneous Ocular Nystagmus Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Spontaneous Ocular Nystagmus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Ocular Hypertension, Bilateral Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Ocular Hypertension, Bilateral in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Keratinization Of Ocular Surface Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Keratinization Of Ocular Surface in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Abnormal Ocular Motility Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormal Ocular Motility in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Ocular Axial Length Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Ocular Axial Length in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Ocular Headache Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Ocular Headache in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Retro-Ocular Headache Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Retro-Ocular Headache in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Ocular Ischemic Syndrome Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Ocular Ischemic Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Impaired Visually Enhanced Vestibulo-Ocular Reflex Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Impaired Visually Enhanced Vestibulo-Ocular Reflex in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Jerky Ocular Pursuit Movements Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Jerky Ocular Pursuit Movements in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Abnormality Of Ocular Abduction Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormality Of Ocular Abduction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Abnormality Of Ocular Smooth Pursuit Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormality Of Ocular Smooth Pursuit in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Impaired Ocular Abduction Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Impaired Ocular Abduction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Impaired Ocular Adduction Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Impaired Ocular Adduction in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Ocular Flutter Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Ocular Flutter in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
ocular hypertelorism Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the ocular hypertelorism phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
abnormal ocular fundus morphology Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal ocular fundus morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
ocular hypertension Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the ocular hypertension phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
ocular hypotelorism Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the ocular hypotelorism phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
ocular pterygium Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the ocular pterygium phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
ocular distichiasis Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the ocular distichiasis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
abnormal ocular surface morphology Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal ocular surface morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
ocular rupture Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the ocular rupture phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
ocular hypotension Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the ocular hypotension phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) pathway from the Reactome Pathways 2024 dataset.
Ocular motility disease Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Ocular motility disease from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Ocular cancer Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Ocular cancer from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Ocular cancer Gene Set From DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Ocular cancer in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
Ocular cancer Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ocular cancer in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Ocular hypertension Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ocular hypertension in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Ocular motility disease Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ocular motility disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Ocular melanoma Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ocular melanoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Ocular tuberculosis Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ocular tuberculosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Ocular hyperemia Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ocular hyperemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Agenesis of corpus callosum, cardiac, ocular, and genital syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Ocular hypotension Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ocular hypotension in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Spontaneous ocular nystagmus Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spontaneous ocular nystagmus in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Renal hypomagnesemia 5 with ocular involvement Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Renal hypomagnesemia 5 with ocular involvement 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.
Spondylo-ocular syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Spondylo-ocular syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
PAX6-related ocular dysgenesis Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the PAX6-related ocular dysgenesis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Ocular cystinosis Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Ocular cystinosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Congenital ocular coloboma Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital ocular coloboma phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Ocular impairment Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Ocular impairment phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Ocular motility disease Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Ocular motility disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Neuromuscular disease and ocular or auditory anomalies Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Neuromuscular disease and ocular or auditory anomalies phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Ocular sarcoidosis Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Ocular sarcoidosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Ocular sarcoidosis in sarcoidosis Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Ocular sarcoidosis in sarcoidosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe ocular complications Gene Set From GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe ocular complications phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
Methionine adenosyltransferase deficiency, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Methionine adenosyltransferase deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Primary autosomal recessive microcephaly 8 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Primary autosomal recessive microcephaly 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Primary autosomal recessive microcephaly 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Primary autosomal recessive microcephaly 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Primary autosomal recessive microcephaly 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Primary autosomal recessive microcephaly 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Primary autosomal recessive microcephaly 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Primary autosomal recessive microcephaly 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Primary autosomal recessive microcephaly 6 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Primary autosomal recessive microcephaly 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Microcephaly 12, primary, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Microcephaly 12, primary, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Agammaglobulinemia 2, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Agammaglobulinemia 2, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 101 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 101 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 103 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 103 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autosomal recessive hypophosphatemic vitamin D refractory rickets Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive hypophosphatemic vitamin D refractory rickets phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Thrombophilia due to protein S deficiency, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia due to protein S deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autosomal recessive cutis laxa type 1B Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive cutis laxa type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Auditory neuropathy, autosomal recessive, 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Auditory neuropathy, autosomal recessive, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hypercholesterolemia, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hypercholesterolemia, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Woolly hair, autosomal recessive 2, with or without hypotrichosis Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Woolly hair, autosomal recessive 2, with or without hypotrichosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Alport syndrome, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Alport syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation, autosomal recessive 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation, autosomal recessive 7 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation, autosomal recessive 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Nemaline myopathy 3, autosomal dominant or recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Nemaline myopathy 3, autosomal dominant or recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ectopia lentis, isolated autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ectopia lentis, isolated autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Primary hypertrophic osteoarthropathy, autosomal recessive 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Primary hypertrophic osteoarthropathy, autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autosomal recessive hypophosphatemic bone disease Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive hypophosphatemic bone disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Inflammatory bowel disease 25, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Inflammatory bowel disease 25, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 30 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 30 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 37 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 37 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 35 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 35 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 39 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 39 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Osteopetrosis, autosomal recessive 8 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Osteopetrosis, autosomal recessive 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spastic paraplegia 46, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spastic paraplegia 46, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spastic paraplegia 48, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spastic paraplegia 48, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Tetraamelia, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Tetraamelia, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 25 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 25 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 24 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 24 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 23 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 23 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 22 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 22 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 29 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 29 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 28 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 28 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Thyroid hormone resistance, generalized, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Thyroid hormone resistance, generalized, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Primary autosomal recessive microcephaly 7 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Primary autosomal recessive microcephaly 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Primary autosomal recessive microcephaly 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Primary autosomal recessive microcephaly 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Osteogenesis imperfecta, recessive perinatal lethal Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Osteogenesis imperfecta, recessive perinatal lethal phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 59 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 59 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myoglobinuria, acute recurrent, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myoglobinuria, acute recurrent, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 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.
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spinocerebellar ataxia autosomal recessive 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia autosomal recessive 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Parkinson disease 6, autosomal recessive early-onset Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Parkinson disease 6, autosomal recessive early-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Severe autosomal recessive muscular dystrophy of childhood - North African type Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Severe autosomal recessive muscular dystrophy of childhood - North African type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cataract, autosomal recessive congenital 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cataract, autosomal recessive congenital 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Amyotrophic lateral sclerosis 1, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Amyotrophic lateral sclerosis 1, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Severe congenital neutropenia 3, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 3, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hydrocephalus, nonsyndromic, autosomal recessive 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hydrocephalus, nonsyndromic, autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Renal tubular acidosis, distal, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Renal tubular acidosis, distal, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spastic paraplegia 54, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spastic paraplegia 54, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ataxia, spastic, 4, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ataxia, spastic, 4, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Microcephaly 10, primary, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Microcephaly 10, primary, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Heterotopia, periventricular, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Heterotopia, periventricular, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Persistent hyperplastic primary vitreous, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Persistent hyperplastic primary vitreous, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spastic paraplegia 11, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spastic paraplegia 11, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spastic paraplegia 57, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spastic paraplegia 57, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spinocerebellar ataxia, autosomal recessive 7 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia, autosomal recessive 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 102 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 102 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spastic paraplegia 72, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spastic paraplegia 72, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Segawa syndrome, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Segawa syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myopia 23, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myopia 23, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Klippel-Feil syndrome 2, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Klippel-Feil syndrome 2, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive hypohidrotic ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 8 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 9 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 6 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 7 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spinocerebellar ataxia, autosomal recessive 15 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia, autosomal recessive 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spinocerebellar ataxia, autosomal recessive 12 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia, autosomal recessive 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spinocerebellar ataxia, autosomal recessive 11 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia, autosomal recessive 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spinocerebellar ataxia, autosomal recessive 10 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia, autosomal recessive 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spastic paraplegia 44, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spastic paraplegia 44, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spastic ataxia 5, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spastic ataxia 5, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Charcot-Marie-Tooth disease, recessive intermediate B Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Charcot-Marie-Tooth disease, recessive intermediate B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Indifference to pain, congenital, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Indifference to pain, congenital, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Retinal degeneration, autosomal recessive, clumped pigment type Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Retinal degeneration, autosomal recessive, clumped pigment type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Amyotrophic lateral sclerosis 6, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Amyotrophic lateral sclerosis 6, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Epidermolysis bullosa simplex, autosomal recessive 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Epidermolysis bullosa simplex, autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 18b Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 18b phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spastic paraplegia 55, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spastic paraplegia 55, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autosomal recessive congenital ichthyosis 9 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Sick sinus syndrome 1, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Sick sinus syndrome 1, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation, autosomal recessive 18 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spastic paraplegia 63, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spastic paraplegia 63, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation, autosomal recessive 27 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 27 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Nemaline myopathy 2, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Nemaline myopathy 2, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Congenital myotonia, autosomal recessive form Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Congenital myotonia, autosomal recessive form phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 91 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 91 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Severe congenital neutropenia 6, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 6, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 84b Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 84b phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cataract, congenital nuclear, autosomal recessive 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cataract, congenital nuclear, autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cataract, congenital nuclear, autosomal recessive 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cataract, congenital nuclear, autosomal recessive 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Polymicrogyria, bilateral perisylvian, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Polymicrogyria, bilateral perisylvian, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spinocerebellar ataxia autosomal recessive with axonal neuropathy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia autosomal recessive with axonal neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autosomal recessive Dejerine-Sottas syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive Dejerine-Sottas syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation, autosomal recessive 39 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 39 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Glut1 deficiency syndrome 1, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Glut1 deficiency syndrome 1, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 86 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 86 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 81 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 81 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Oculodentodigital dysplasia, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Oculodentodigital dysplasia, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 89 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 89 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 88 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 88 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Recessive dystrophic epidermolysis bullosa Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Recessive dystrophic epidermolysis bullosa phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 48 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 48 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 2 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.
Spinocerebellar ataxia, autosomal recessive 14 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia, autosomal recessive 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spinocerebellar ataxia, autosomal recessive 9 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia, autosomal recessive 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spinocerebellar ataxia, autosomal recessive 8 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia, autosomal recessive 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Pseudohypoaldosteronism type 1 autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Pseudohypoaldosteronism type 1 autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation, autosomal recessive 38 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 38 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Sclerocornea, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Sclerocornea, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spastic paraplegia 56, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spastic paraplegia 56, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation, autosomal recessive 34 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 34 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 53 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 53 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spastic paraplegia 30, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spastic paraplegia 30, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Epidermolysis bullosa dystrophica inversa, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Epidermolysis bullosa dystrophica inversa, autosomal recessive 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.
Charcot-Marie-Tooth disease, recessive intermediate d Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Charcot-Marie-Tooth disease, recessive intermediate d phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Charcot-Marie-Tooth disease, recessive intermediate c Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Charcot-Marie-Tooth disease, recessive intermediate c phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Dyskeratosis congenita, autosomal recessive, 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Dyskeratosis congenita, autosomal recessive, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Charcot-Marie-Tooth disease, recessive intermediate A Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Charcot-Marie-Tooth disease, recessive intermediate A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Agammaglobulinemia 6, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Agammaglobulinemia 6, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Agammaglobulinemia 7, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Agammaglobulinemia 7, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation, autosomal recessive 13 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation, autosomal recessive 12 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation, autosomal recessive 14 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ataxia, spastic, 2, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ataxia, spastic, 2, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spinocerebellar ataxia autosomal recessive 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia autosomal recessive 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 42 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 42 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 44 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 44 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Severe congenital neutropenia 4, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 4, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spastic paraplegia 45, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spastic paraplegia 45, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 31 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 31 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.
Mental retardation, autosomal recessive 47 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 47 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Osteopetrosis autosomal recessive 7 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Osteopetrosis autosomal recessive 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Osteopetrosis autosomal recessive 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Osteopetrosis autosomal recessive 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Osteopetrosis autosomal recessive 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Osteopetrosis autosomal recessive 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Osteopetrosis autosomal recessive 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Osteopetrosis autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Osteopetrosis autosomal recessive 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Osteopetrosis autosomal recessive 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 76 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 76 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 77 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 77 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 74 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 74 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 70 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 70 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 79 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 79 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autosomal recessive cutis laxa type 2B Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive cutis laxa type 2B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autosomal recessive cutis laxa type IA Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive cutis laxa type IA phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autosomal recessive centronuclear myopathy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive centronuclear myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autosomal recessive congenital ichthyosis 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autosomal recessive congenital ichthyosis 6 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autosomal recessive congenital ichthyosis 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autosomal recessive congenital ichthyosis 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autosomal recessive congenital ichthyosis 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 18 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 61 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 61 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 63 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 63 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 67 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 67 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autosomal recessive congenital ichthyosis 4A Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 4A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autosomal recessive congenital ichthyosis 4B Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 4B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autosomal recessive cutis laxa type 3B Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive cutis laxa type 3B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Microcephaly 11, primary, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Microcephaly 11, primary, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Microcephaly with chorioretinopathy, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Microcephaly with chorioretinopathy, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Robinow syndrome, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Robinow syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation, autosomal recessive 40 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 40 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation, autosomal recessive 41 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 41 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation, autosomal recessive 42 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 42 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation, autosomal recessive 43 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 43 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation, autosomal recessive 44 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 44 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation, autosomal recessive 45 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 45 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation, autosomal recessive 46 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 46 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bestrophinopathy, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bestrophinopathy, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Microcephaly 9, primary, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Microcephaly 9, primary, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Distal spinal muscular atrophy, autosomal recessive 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Distal spinal muscular atrophy, autosomal recessive 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hypophosphatemic rickets, autosomal recessive, 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hypophosphatemic rickets, autosomal recessive, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 15 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 16 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 12 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Microcephaly 13, primary, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Microcephaly 13, primary, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 1A Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 1A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spastic paraplegia 20, autosomal recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spastic paraplegia 20, autosomal recessive from the curated CTD Gene-Disease Associations dataset.
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 1b Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 1b from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 32 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 32 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 1A Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 1A from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 14 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 14 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 16 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 16 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 17 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 17 from the curated CTD Gene-Disease Associations dataset.
Spastic Paraplegia 32, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spastic Paraplegia 32, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Osteopetrosis, Autosomal Recessive 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Osteopetrosis, Autosomal Recessive 1 from the curated CTD Gene-Disease Associations dataset.
Osteopetrosis, Autosomal Recessive 7 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Osteopetrosis, Autosomal Recessive 7 from the curated CTD Gene-Disease Associations dataset.
Osteopetrosis, Autosomal Recessive 5 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Osteopetrosis, Autosomal Recessive 5 from the curated CTD Gene-Disease Associations dataset.
Osteopetrosis, Autosomal Recessive 4 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Osteopetrosis, Autosomal Recessive 4 from the curated CTD Gene-Disease Associations dataset.
DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT from the curated CTD Gene-Disease Associations dataset.
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 from the curated CTD Gene-Disease Associations dataset.
Heterotopia, Periventricular, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Heterotopia, Periventricular, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 from the curated CTD Gene-Disease Associations dataset.
Amyotrophic Lateral Sclerosis 6, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Amyotrophic Lateral Sclerosis 6, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 67 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 67 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 13 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 13 from the curated CTD Gene-Disease Associations dataset.
Ichthyosis with hypotrichosis, autosomal recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Ichthyosis with hypotrichosis, autosomal recessive from the curated CTD Gene-Disease Associations dataset.
Mental Retardation, Autosomal Recessive 13 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 13 from the curated CTD Gene-Disease Associations dataset.
DEAFNESS, AUTOSOMAL RECESSIVE 91 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 91 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 77 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 77 from the curated CTD Gene-Disease Associations dataset.
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I from the curated CTD Gene-Disease Associations dataset.
Spastic paraplegia type 5A, recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spastic paraplegia type 5A, recessive from the curated CTD Gene-Disease Associations dataset.
DEAFNESS, AUTOSOMAL RECESSIVE 85 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 85 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 79 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 79 from the curated CTD Gene-Disease Associations dataset.
Osteopetrosis, Autosomal Recessive 6 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Osteopetrosis, Autosomal Recessive 6 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 33 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 33 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 31 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 31 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 37 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 37 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 35 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 35 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 38 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 38 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 39 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 39 from the curated CTD Gene-Disease Associations dataset.
Sick Sinus Syndrome 1, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Sick Sinus Syndrome 1, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive from the curated CTD Gene-Disease Associations dataset.
DEAFNESS, AUTOSOMAL RECESSIVE 83 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 83 from the curated CTD Gene-Disease Associations dataset.
Ataxia, Spastic, 3, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Ataxia, Spastic, 3, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 40 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 40 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 46 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 46 from the curated CTD Gene-Disease Associations dataset.
Candidiasis familial chronic mucocutaneous, autosomal recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Candidiasis familial chronic mucocutaneous, autosomal recessive from the curated CTD Gene-Disease Associations dataset.
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 44 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 44 from the curated CTD Gene-Disease Associations dataset.
Spastic Paraplegia 7, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spastic Paraplegia 7, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Hypercholesterolemia, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hypercholesterolemia, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 26 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 26 from the curated CTD Gene-Disease Associations dataset.
Indifference to Pain, Congenital, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Indifference to Pain, Congenital, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Robinow syndrome, autosomal recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Robinow syndrome, autosomal recessive from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 27 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 27 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 22 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 22 from the curated CTD Gene-Disease Associations dataset.
Inflammatory Bowel Disease 25, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Inflammatory Bowel Disease 25, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative from the curated CTD Gene-Disease Associations dataset.
DEAFNESS, AUTOSOMAL RECESSIVE 8 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 8 from the curated CTD Gene-Disease Associations dataset.
Spastic paraplegia type 5B, recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spastic paraplegia type 5B, recessive from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 62 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 62 from the curated CTD Gene-Disease Associations dataset.
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.
Dystonia 17, Torsion, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Dystonia 17, Torsion, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Spastic paraplegia 11, autosomal recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spastic paraplegia 11, autosomal recessive from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive, 24 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive, 24 from the curated CTD Gene-Disease Associations dataset.
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.
Polycystic Kidney, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Polycystic Kidney, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Spinocerebellar Ataxia, Autosomal Recessive 9 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar Ataxia, Autosomal Recessive 9 from the curated CTD Gene-Disease Associations dataset.
Spinocerebellar Ataxia, Autosomal Recessive 8 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar Ataxia, Autosomal Recessive 8 from the curated CTD Gene-Disease Associations dataset.
SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.
Renal tubular acidosis, distal, autosomal recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Renal tubular acidosis, distal, autosomal recessive from the curated CTD Gene-Disease Associations dataset.
Spastic Paraplegia 44, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spastic Paraplegia 44, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Spastic paraplegia 25, autosomal recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spastic paraplegia 25, autosomal recessive from the curated CTD Gene-Disease Associations dataset.
Myopathy, Hyaline Body, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Hyaline Body, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.
Thyroid Hormone Resistance, Generalized, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Thyroid Hormone Resistance, Generalized, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Cutis Laxa, Autosomal Recessive, Type IIA Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cutis Laxa, Autosomal Recessive, Type IIA from the curated CTD Gene-Disease Associations dataset.
Cutis Laxa, Autosomal Recessive, Type IIB Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cutis Laxa, Autosomal Recessive, Type IIB from the curated CTD Gene-Disease Associations dataset.
Spastic paraplegia 15, autosomal recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spastic paraplegia 15, autosomal recessive from the curated CTD Gene-Disease Associations dataset.
Cerebral Palsy, Ataxic, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cerebral Palsy, Ataxic, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy from the curated CTD Gene-Disease Associations dataset.
DEAFNESS, AUTOSOMAL RECESSIVE 18A Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 18A from the curated CTD Gene-Disease Associations dataset.
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II from the curated CTD Gene-Disease Associations dataset.
DEAFNESS, AUTOSOMAL RECESSIVE 74 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 74 from the curated CTD Gene-Disease Associations dataset.
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 from the curated CTD Gene-Disease Associations dataset.
Spastic Paraplegia 39, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spastic Paraplegia 39, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 30 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 30 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 28 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 28 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 59 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 59 from the curated CTD Gene-Disease Associations dataset.
Spastic Paraplegia-50, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spastic Paraplegia-50, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.
DEAFNESS, AUTOSOMAL RECESSIVE 84A Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 84A from the curated CTD Gene-Disease Associations dataset.
Mental Retardation, Autosomal Recessive 9 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 9 from the curated CTD Gene-Disease Associations dataset.
Charcot-Marie-Tooth Disease, Recessive Intermediate A Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Charcot-Marie-Tooth Disease, Recessive Intermediate A from the curated CTD Gene-Disease Associations dataset.
Spastic paraplegia 14, autosomal recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spastic paraplegia 14, autosomal recessive from the curated CTD Gene-Disease Associations dataset.
Mental Retardation, Autosomal Recessive 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 3 from the curated CTD Gene-Disease Associations dataset.
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B from the curated CTD Gene-Disease Associations dataset.
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.
Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Alport syndrome, recessive type Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Alport syndrome, recessive type from the curated CTD Gene-Disease Associations dataset.
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 from the curated CTD Gene-Disease Associations dataset.
Mental Retardation, Autosomal Recessive 4 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 4 from the curated CTD Gene-Disease Associations dataset.
DEAFNESS, AUTOSOMAL RECESSIVE 25 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 25 from the curated CTD Gene-Disease Associations dataset.
Mental Retardation, Autosomal Recessive 11 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 11 from the curated CTD Gene-Disease Associations dataset.
Mental Retardation, Autosomal Recessive 10 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 10 from the curated CTD Gene-Disease Associations dataset.
Mental Retardation, Autosomal Recessive 8 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 8 from the curated CTD Gene-Disease Associations dataset.
Parkinson Disease 6, Autosomal Recessive Early-Onset Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Parkinson Disease 6, Autosomal Recessive Early-Onset from the curated CTD Gene-Disease Associations dataset.
Cataract, Autosomal Recessive Congenital 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cataract, Autosomal Recessive Congenital 3 from the curated CTD Gene-Disease Associations dataset.
Microcephaly, Primary Autosomal Recessive, 5 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Microcephaly, Primary Autosomal Recessive, 5 from the curated CTD Gene-Disease Associations dataset.
Spinocerebellar ataxia, autosomal recessive 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar ataxia, autosomal recessive 3 from the curated CTD Gene-Disease Associations dataset.
Hypophosphatemic Rickets, Autosomal Recessive, 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hypophosphatemic Rickets, Autosomal Recessive, 2 from the curated CTD Gene-Disease Associations dataset.
Hypophosphatemic Rickets, Autosomal Recessive, 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hypophosphatemic Rickets, Autosomal Recessive, 1 from the curated CTD Gene-Disease Associations dataset.
Microcephaly, Primary Autosomal Recessive, 4 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Microcephaly, Primary Autosomal Recessive, 4 from the curated CTD Gene-Disease Associations dataset.
Microcephaly, Primary Autosomal Recessive, 6 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Microcephaly, Primary Autosomal Recessive, 6 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 2 from the curated CTD Gene-Disease Associations dataset.
Mental Retardation, Autosomal Recessive 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 2 from the curated CTD Gene-Disease Associations dataset.
Mental Retardation, Autosomal Recessive 7 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 7 from the curated CTD Gene-Disease Associations dataset.
Mental Retardation, Autosomal Recessive 6 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 6 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 5 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 5 from the curated CTD Gene-Disease Associations dataset.
Cataract, Autosomal Recessive, Early-Onset, Pulverulent Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cataract, Autosomal Recessive, Early-Onset, Pulverulent from the curated CTD Gene-Disease Associations dataset.
SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.
Microcephaly, Primary Autosomal Recessive, 7 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Microcephaly, Primary Autosomal Recessive, 7 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 21 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 21 from the curated CTD Gene-Disease Associations dataset.
Colorectal Adenomatous Polyposis, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Colorectal Adenomatous Polyposis, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease BESTROPHINOPATHY, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.
Inflammatory Bowel Disease 28, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Inflammatory Bowel Disease 28, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
DEAFNESS, AUTOSOMAL RECESSIVE 45 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 45 from the curated CTD Gene-Disease Associations dataset.
Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Spinocerebellar ataxia, autosomal recessive 4 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar ataxia, autosomal recessive 4 from the curated CTD Gene-Disease Associations dataset.
Spinocerebellar ataxia, autosomal recessive 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar ataxia, autosomal recessive 1 from the curated CTD Gene-Disease Associations dataset.
Myosclerosis, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Myosclerosis, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Microcephaly, Primary Autosomal Recessive, 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Microcephaly, Primary Autosomal Recessive, 3 from the curated CTD Gene-Disease Associations dataset.
Deafness, autosomal recessive 51 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, autosomal recessive 51 from the curated CTD Gene-Disease Associations dataset.
Microcephaly, Primary Autosomal Recessive, 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Microcephaly, Primary Autosomal Recessive, 1 from the curated CTD Gene-Disease Associations dataset.
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive from the curated CTD Gene-Disease Associations dataset.
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.
Spinocerebellar ataxia, autosomal recessive 6 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar ataxia, autosomal recessive 6 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 12 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 12 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 68 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 68 from the curated CTD Gene-Disease Associations dataset.
Spinocerebellar ataxia, autosomal recessive 5 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar ataxia, autosomal recessive 5 from the curated CTD Gene-Disease Associations dataset.
THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 65 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 65 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 9 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 9 from the curated CTD Gene-Disease Associations dataset.
Dyskeratosis Congenita, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Dyskeratosis Congenita, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Tetra-amelia autosomal recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Tetra-amelia autosomal recessive from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 3 from the curated CTD Gene-Disease Associations dataset.
Mental Retardation, Autosomal Recessive 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 1 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 53 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 53 from the curated CTD Gene-Disease Associations dataset.
Spinocerebellar Ataxia, Autosomal Recessive 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar Ataxia, Autosomal Recessive 2 from the curated CTD Gene-Disease Associations dataset.
Epidermolysis Bullosa Simplex, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Epidermolysis Bullosa Simplex, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.
AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT from the curated CTD Gene-Disease Associations dataset.
Myoglobinuria, Acute Recurrent, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Myoglobinuria, Acute Recurrent, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 47 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 47 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 49 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 49 from the curated CTD Gene-Disease Associations dataset.
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 from the curated CTD Gene-Disease Associations dataset.
AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.
Spastic Paraplegia 27, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spastic Paraplegia 27, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Cataract, Congenital Nuclear, Autosomal Recessive 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cataract, Congenital Nuclear, Autosomal Recessive 1 from the curated CTD Gene-Disease Associations dataset.
SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA from the curated CTD Gene-Disease Associations dataset.
Oculodentodigital Dysplasia, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Oculodentodigital Dysplasia, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 42 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 42 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 71 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 71 from the curated CTD Gene-Disease Associations dataset.
Deafness, autosomal recessive 55 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, autosomal recessive 55 from the curated CTD Gene-Disease Associations dataset.
Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Cataract, Congenital Nuclear, Autosomal Recessive 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cataract, Congenital Nuclear, Autosomal Recessive 3 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 20 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 20 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 23 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 23 from the curated CTD Gene-Disease Associations dataset.
Inclusion body myopathy autosomal recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Inclusion body myopathy autosomal recessive from the curated CTD Gene-Disease Associations dataset.
Cataract, Congenital Nuclear, Autosomal Recessive 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cataract, Congenital Nuclear, Autosomal Recessive 2 from the curated CTD Gene-Disease Associations dataset.
Cutis laxa, recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cutis laxa, recessive from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 6 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 6 from the curated CTD Gene-Disease Associations dataset.
Segawa syndrome, autosomal recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Segawa syndrome, autosomal recessive from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 63 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 63 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 66 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 66 from the curated CTD Gene-Disease Associations dataset.
Spastic Paraplegia 18, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spastic Paraplegia 18, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 7 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 7 from the curated CTD Gene-Disease Associations dataset.
Parkinson Disease 7, Autosomal Recessive Early-Onset Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Parkinson Disease 7, Autosomal Recessive Early-Onset from the curated CTD Gene-Disease Associations dataset.
Neutropenia, Severe Congenital, Autosomal Recessive 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Recessive 3 from the curated CTD Gene-Disease Associations dataset.
Neutropenia, Severe Congenital, Autosomal Recessive 4 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Recessive 4 from the curated CTD Gene-Disease Associations dataset.
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.
autosomal recessive disease Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease autosomal recessive disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
autosomal recessive disease Gene Set From DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease autosomal recessive disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
autosomal recessive nonsyndromic deafness Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease autosomal recessive nonsyndromic deafness in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
autosomal recessive disease Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease autosomal recessive disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
autosomal recessive charcot-marie-tooth disease Gene Set From GAD Gene-Disease Associations genes associated with the disease autosomal recessive charcot-marie-tooth disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
recessive charcot-marie-tooth disease Gene Set From GAD Gene-Disease Associations genes associated with the disease recessive charcot-marie-tooth disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
recessive retinitis pigmentosa Gene Set From GAD Gene-Disease Associations genes associated with the disease recessive retinitis pigmentosa in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
recessive cone-rod dystrophy Gene Set From GAD Gene-Disease Associations genes associated with the disease recessive cone-rod dystrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
recessive Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term recessive in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
autosomal recessive disease Gene Set From GWASdb SNP-Disease Associations genes associated with the disease autosomal recessive disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.
autosomal recessive inheritance Gene Set From HPO Gene-Disease Associations genes associated with the autosomal recessive inheritance phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
Polycystic Kidney, Autosomal Recessive Gene Set From HuGE Navigator Gene-Phenotype Associations genes associated with the Polycystic Kidney, Autosomal Recessive phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
mental retardation, autosomal recessive, 9/26 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive, 9/26 phenotype from the curated OMIM Gene-Disease Associations dataset.
exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like Gene Set From OMIM Gene-Disease Associations genes associated with the exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like phenotype from the curated OMIM Gene-Disease Associations dataset.
scid, autosomal recessive, t-negative/b-positive type Gene Set From OMIM Gene-Disease Associations genes associated with the scid, autosomal recessive, t-negative/b-positive type phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 28 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 28 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 29 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 29 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 23 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 23 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 27 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 27 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 24 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 24 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 25 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 25 phenotype from the curated OMIM Gene-Disease Associations dataset.
spondylocostal dysostosis 1, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spondylocostal dysostosis 1, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 5a, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 5a, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
myotonia levior, recessive Gene Set From OMIM Gene-Disease Associations genes associated with the myotonia levior, recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spinal muscular atrophy, distal, autosomal recessive, 4 Gene Set From OMIM Gene-Disease Associations genes associated with the spinal muscular atrophy, distal, autosomal recessive, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.
spinal muscular atrophy, distal, autosomal recessive, 5 Gene Set From OMIM Gene-Disease Associations genes associated with the spinal muscular atrophy, distal, autosomal recessive, 5 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 74 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 74 phenotype from the curated OMIM Gene-Disease Associations dataset.
spondylocostal dysostosis 2, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spondylocostal dysostosis 2, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
?spinocerebellar ataxia, autosomal recessive 15 Gene Set From OMIM Gene-Disease Associations genes associated with the ?spinocerebellar ataxia, autosomal recessive 15 phenotype from the curated OMIM Gene-Disease Associations dataset.
?spinocerebellar ataxia, autosomal recessive 17 Gene Set From OMIM Gene-Disease Associations genes associated with the ?spinocerebellar ataxia, autosomal recessive 17 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 18a Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 18a phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 18b Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 18b phenotype from the curated OMIM Gene-Disease Associations dataset.
epidermolysis bullosa, nonspecific, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the epidermolysis bullosa, nonspecific, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia due to protein s deficiency, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to protein s deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
weill-marchesani syndrome 3, recessive Gene Set From OMIM Gene-Disease Associations genes associated with the weill-marchesani syndrome 3, recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
l-ferritin deficiency, dominant and recessive Gene Set From OMIM Gene-Disease Associations genes associated with the l-ferritin deficiency, dominant and recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
?microcephaly 11, primary, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the ?microcephaly 11, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 18, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 18, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 40 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 40 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 44 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 44 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 46 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 46 phenotype from the curated OMIM Gene-Disease Associations dataset.
osteopetrosis, autosomal recessive 3, with renal tubular acidosis Gene Set From OMIM Gene-Disease Associations genes associated with the osteopetrosis, autosomal recessive 3, with renal tubular acidosis phenotype from the curated OMIM Gene-Disease Associations dataset.
hydrocephalus, nonsyndromic, autosomal recessive 2 Gene Set From OMIM Gene-Disease Associations genes associated with the hydrocephalus, nonsyndromic, autosomal recessive 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 32, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 32, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 51 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 51 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 53 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 53 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 55 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 55 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 59 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 59 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 5 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 5 phenotype from the curated OMIM Gene-Disease Associations dataset.
microcephaly 2, primary, autosomal recessive, with or without cortical malformations Gene Set From OMIM Gene-Disease Associations genes associated with the microcephaly 2, primary, autosomal recessive, with or without cortical malformations phenotype from the curated OMIM Gene-Disease Associations dataset.
neuromyotonia and axonal neuropathy, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the neuromyotonia and axonal neuropathy, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 53, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 53, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
ectopia lentis, isolated, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the ectopia lentis, isolated, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
heterotaxy, visceral, 6, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the heterotaxy, visceral, 6, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
cataract 22, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the cataract 22, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
microcephaly 5, primary, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the microcephaly 5, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 4, with enlarged vestibular aqueduct Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 4, with enlarged vestibular aqueduct phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic ataxia 2, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic ataxia 2, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic ataxia 3, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic ataxia 3, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 76 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 76 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 77 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 77 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 70 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 70 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 71 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 71 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 79 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 79 phenotype from the curated OMIM Gene-Disease Associations dataset.
retinitis pigmentosa, juvenile, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the retinitis pigmentosa, juvenile, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
charcot-marie-tooth disease, recessive intermediate, a Gene Set From OMIM Gene-Disease Associations genes associated with the charcot-marie-tooth disease, recessive intermediate, a phenotype from the curated OMIM Gene-Disease Associations dataset.
protoporphyria, erythropoietic, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the protoporphyria, erythropoietic, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 1a Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 1a phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 1b Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 1b phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 14 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 14 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 15 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 15 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 16 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 16 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 17 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 17 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 12 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 12 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 13 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 13 phenotype from the curated OMIM Gene-Disease Associations dataset.
immunodeficiency 31b, mycobacterial and viral infections, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the immunodeficiency 31b, mycobacterial and viral infections, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia due to protein c deficiency, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to protein c deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 30, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 30, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 85 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 85 phenotype from the curated OMIM Gene-Disease Associations dataset.
myopia 23, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the myopia 23, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
?spastic paraplegia 43, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the ?spastic paraplegia 43, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 32 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 32 phenotype from the curated OMIM Gene-Disease Associations dataset.
hydrocephalus, nonsyndromic, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the hydrocephalus, nonsyndromic, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 45, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 45, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 33 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 33 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 30 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 30 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 31 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 31 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 36 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 36 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 37 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 37 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 35 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 35 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 38 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 38 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 39 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 39 phenotype from the curated OMIM Gene-Disease Associations dataset.
ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 25, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 25, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
?deafness, autosomal recessive 91 Gene Set From OMIM Gene-Disease Associations genes associated with the ?deafness, autosomal recessive 91 phenotype from the curated OMIM Gene-Disease Associations dataset.
inclusion body myopathy, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the inclusion body myopathy, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 39, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 39, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive, 4 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive, 6 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive, 6 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive, 8 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive, 8 phenotype from the curated OMIM Gene-Disease Associations dataset.
night blindness, congenital stationary (complete), 1f, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the night blindness, congenital stationary (complete), 1f, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spinocerebellar ataxia, autosomal recessive 7 Gene Set From OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia, autosomal recessive 7 phenotype from the curated OMIM Gene-Disease Associations dataset.
spinocerebellar ataxia, autosomal recessive 3 Gene Set From OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia, autosomal recessive 3 phenotype from the curated OMIM Gene-Disease Associations dataset.
spinocerebellar ataxia, autosomal recessive 2 Gene Set From OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia, autosomal recessive 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
spinocerebellar ataxia, autosomal recessive 8 Gene Set From OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia, autosomal recessive 8 phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 55, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 55, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
epidermolysis bullosa simplex, sutosomal recessive 2 Gene Set From OMIM Gene-Disease Associations genes associated with the epidermolysis bullosa simplex, sutosomal recessive 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
spinal muscular atrophy, chronic distal, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spinal muscular atrophy, chronic distal, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 30 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 30 phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 24, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 24, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
neutropenia, severe congenital 3, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital 3, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
immunodeficiency 32b, monocyte and dendritic cell deficiency, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the immunodeficiency 32b, monocyte and dendritic cell deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 28, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 28, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
nemaline myopathy 1, autosomal dominant or recessive Gene Set From OMIM Gene-Disease Associations genes associated with the nemaline myopathy 1, autosomal dominant or recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
{dyskeratosis congenita, autosomal recessive 4} Gene Set From OMIM Gene-Disease Associations genes associated with the {dyskeratosis congenita, autosomal recessive 4} phenotype from the curated OMIM Gene-Disease Associations dataset.
microcephaly 9, primary, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the microcephaly 9, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 3 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 3 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 2 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 7 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 7 phenotype from the curated OMIM Gene-Disease Associations dataset.
hypercholesterolemia, familial, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the hypercholesterolemia, familial, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
nemaline myopathy 8, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the nemaline myopathy 8, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
aicardi-goutieres syndrome 1, dominant and recessive Gene Set From OMIM Gene-Disease Associations genes associated with the aicardi-goutieres syndrome 1, dominant and recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii Gene Set From OMIM Gene-Disease Associations genes associated with the granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 11, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 11, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spinocrebellar ataxia, autosomal recessive 12 Gene Set From OMIM Gene-Disease Associations genes associated with the spinocrebellar ataxia, autosomal recessive 12 phenotype from the curated OMIM Gene-Disease Associations dataset.
inflammatory bowel disease 25, early onset, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the inflammatory bowel disease 25, early onset, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
methionine adenosyltransferase deficiency, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the methionine adenosyltransferase deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 84a Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 84a phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 84b Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 84b phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 96 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 96 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 93 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 93 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 98 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 98 phenotype from the curated OMIM Gene-Disease Associations dataset.
amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia Gene Set From OMIM Gene-Disease Associations genes associated with the amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia phenotype from the curated OMIM Gene-Disease Associations dataset.
hypertrophic osteoarthropathy, primary, autosomal recessive 1 Gene Set From OMIM Gene-Disease Associations genes associated with the hypertrophic osteoarthropathy, primary, autosomal recessive 1 phenotype from the curated OMIM Gene-Disease Associations dataset.
hypertrophic osteoarthropathy, primary, autosomal recessive 2 Gene Set From OMIM Gene-Disease Associations genes associated with the hypertrophic osteoarthropathy, primary, autosomal recessive 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 10/20 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 10/20 phenotype from the curated OMIM Gene-Disease Associations dataset.
alport syndrome, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the alport syndrome, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
dyskeratosis congenita, autosomal recessive 1 Gene Set From OMIM Gene-Disease Associations genes associated with the dyskeratosis congenita, autosomal recessive 1 phenotype from the curated OMIM Gene-Disease Associations dataset.
dyskeratosis congenita, autosomal recessive 2 Gene Set From OMIM Gene-Disease Associations genes associated with the dyskeratosis congenita, autosomal recessive 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
dyskeratosis congenita, autosomal recessive 3 Gene Set From OMIM Gene-Disease Associations genes associated with the dyskeratosis congenita, autosomal recessive 3 phenotype from the curated OMIM Gene-Disease Associations dataset.
dyskeratosis congenita, autosomal recessive 5 Gene Set From OMIM Gene-Disease Associations genes associated with the dyskeratosis congenita, autosomal recessive 5 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 8/10 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 8/10 phenotype from the curated OMIM Gene-Disease Associations dataset.
bestrophinopathy, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the bestrophinopathy, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 46, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 46, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
{epidermolysis bullosa dystrophica, autosomal recessive, modifier of} Gene Set From OMIM Gene-Disease Associations genes associated with the {epidermolysis bullosa dystrophica, autosomal recessive, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset.
night blindness, congenital stationary (complete), 1b, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the night blindness, congenital stationary (complete), 1b, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 26, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 26, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 51, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 51, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
night blindness, congenital stationary (complete), 1c, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the night blindness, congenital stationary (complete), 1c, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
microcephaly 6, primary, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the microcephaly 6, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
craniometaphyseal dysplasia, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the craniometaphyseal dysplasia, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
hsan2d, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the hsan2d, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
cutis laxa, autosomal recessive, type ia Gene Set From OMIM Gene-Disease Associations genes associated with the cutis laxa, autosomal recessive, type ia phenotype from the curated OMIM Gene-Disease Associations dataset.
cutis laxa, autosomal recessive, type ib Gene Set From OMIM Gene-Disease Associations genes associated with the cutis laxa, autosomal recessive, type ib phenotype from the curated OMIM Gene-Disease Associations dataset.
colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas Gene Set From OMIM Gene-Disease Associations genes associated with the colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas phenotype from the curated OMIM Gene-Disease Associations dataset.
?deafness, autosomal recessive 103 Gene Set From OMIM Gene-Disease Associations genes associated with the ?deafness, autosomal recessive 103 phenotype from the curated OMIM Gene-Disease Associations dataset.
?deafness, autosomal recessive 102 Gene Set From OMIM Gene-Disease Associations genes associated with the ?deafness, autosomal recessive 102 phenotype from the curated OMIM Gene-Disease Associations dataset.
?deafness, autosomal recessive 101 Gene Set From OMIM Gene-Disease Associations genes associated with the ?deafness, autosomal recessive 101 phenotype from the curated OMIM Gene-Disease Associations dataset.
charcot-marie-tooth disease, recessive intermediate d Gene Set From OMIM Gene-Disease Associations genes associated with the charcot-marie-tooth disease, recessive intermediate d phenotype from the curated OMIM Gene-Disease Associations dataset.
charcot-marie-tooth disease, recessive intermediate c Gene Set From OMIM Gene-Disease Associations genes associated with the charcot-marie-tooth disease, recessive intermediate c phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 47, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 47, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
hypoparathyroidism, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the hypoparathyroidism, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
microcephaly 1, primary, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the microcephaly 1, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
retinitis pigmentosa-12, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the retinitis pigmentosa-12, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
?microcephaly 8, primary, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the ?microcephaly 8, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spinocerebellar ataxia, autosomal recessive 16 Gene Set From OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia, autosomal recessive 16 phenotype from the curated OMIM Gene-Disease Associations dataset.
spinocerebellar ataxia, autosomal recessive 14 Gene Set From OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia, autosomal recessive 14 phenotype from the curated OMIM Gene-Disease Associations dataset.
spinocerebellar ataxia, autosomal recessive 13 Gene Set From OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia, autosomal recessive 13 phenotype from the curated OMIM Gene-Disease Associations dataset.
spinocerebellar ataxia, autosomal recessive 11 Gene Set From OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia, autosomal recessive 11 phenotype from the curated OMIM Gene-Disease Associations dataset.
spinocerebellar ataxia, autosomal recessive 10 Gene Set From OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia, autosomal recessive 10 phenotype from the curated OMIM Gene-Disease Associations dataset.
ichthyosis, congenital, autosomal recessive 4a Gene Set From OMIM Gene-Disease Associations genes associated with the ichthyosis, congenital, autosomal recessive 4a phenotype from the curated OMIM Gene-Disease Associations dataset.
woolly hair, autosomal recessive 1, with or without hypotrichosis Gene Set From OMIM Gene-Disease Associations genes associated with the woolly hair, autosomal recessive 1, with or without hypotrichosis phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 32 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 32 phenotype from the curated OMIM Gene-Disease Associations dataset.
neutropenia, severe congenital, 6, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital, 6, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
night blindness, congenital stationary (incomplete), 2b, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the night blindness, congenital stationary (incomplete), 2b, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
ichthyosis, autosomal recessive 4b (harlequin) Gene Set From OMIM Gene-Disease Associations genes associated with the ichthyosis, autosomal recessive 4b (harlequin) phenotype from the curated OMIM Gene-Disease Associations dataset.
hyperekplexia, hereditary 1, autosomal dominant or recessive Gene Set From OMIM Gene-Disease Associations genes associated with the hyperekplexia, hereditary 1, autosomal dominant or recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
cutis laxa, autosomal recessive, type iiia Gene Set From OMIM Gene-Disease Associations genes associated with the cutis laxa, autosomal recessive, type iiia phenotype from the curated OMIM Gene-Disease Associations dataset.
cutis laxa, autosomal recessive, type iiib Gene Set From OMIM Gene-Disease Associations genes associated with the cutis laxa, autosomal recessive, type iiib phenotype from the curated OMIM Gene-Disease Associations dataset.
?mental retardation, autosomal recessive 45 Gene Set From OMIM Gene-Disease Associations genes associated with the ?mental retardation, autosomal recessive 45 phenotype from the curated OMIM Gene-Disease Associations dataset.
?mental retardation, autosomal recessive 42 Gene Set From OMIM Gene-Disease Associations genes associated with the ?mental retardation, autosomal recessive 42 phenotype from the curated OMIM Gene-Disease Associations dataset.
?mental retardation, autosomal recessive 43 Gene Set From OMIM Gene-Disease Associations genes associated with the ?mental retardation, autosomal recessive 43 phenotype from the curated OMIM Gene-Disease Associations dataset.
retinitis pigmentosa 4, autosomal dominant or recessive Gene Set From OMIM Gene-Disease Associations genes associated with the retinitis pigmentosa 4, autosomal dominant or recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 27, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 27, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
parkinson disease 15, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the parkinson disease 15, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
?anemia, sideroblastic, pyridoxine-refractory, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the ?anemia, sideroblastic, pyridoxine-refractory, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
{deafness, autosomal recessive 12, modifier of} Gene Set From OMIM Gene-Disease Associations genes associated with the {deafness, autosomal recessive 12, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset.
immunodeficiency, primary, autosomal recessive, il21r-related Gene Set From OMIM Gene-Disease Associations genes associated with the immunodeficiency, primary, autosomal recessive, il21r-related phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy, centronuclear, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy, centronuclear, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 39 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 39 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 38 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 38 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 31 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 31 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 33 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 33 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 35 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 35 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 34 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 34 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 36 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 36 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, neurosensory, autosomal recessive 47 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, neurosensory, autosomal recessive 47 phenotype from the curated OMIM Gene-Disease Associations dataset.
myotonia congenita, recessive Gene Set From OMIM Gene-Disease Associations genes associated with the myotonia congenita, recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 52, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 52, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
candidiasis, familial, 5, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the candidiasis, familial, 5, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 13 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 13 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 12 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 12 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 16 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 16 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 15 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 15 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 14 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 14 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 19 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 19 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 18 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 18 phenotype from the curated OMIM Gene-Disease Associations dataset.
candidiasis, familial, 4, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the candidiasis, familial, 4, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
hyper-ige recurrent infection syndrome, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the hyper-ige recurrent infection syndrome, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
inflammatory bowel disease 28, early onset, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the inflammatory bowel disease 28, early onset, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
bernard-soulier syndrome, type a1 (recessive) Gene Set From OMIM Gene-Disease Associations genes associated with the bernard-soulier syndrome, type a1 (recessive) phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 14, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 14, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
neutropenia, severe congenital, 5, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital, 5, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
night blindness, congenital stationary (complete), 1e, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the night blindness, congenital stationary (complete), 1e, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 56, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 56, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spinocerebellar ataxia, autosomal recessive 5 Gene Set From OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia, autosomal recessive 5 phenotype from the curated OMIM Gene-Disease Associations dataset.
microcephaly 3, primary, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the microcephaly 3, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
hypophosphatemic rickets, autosomal recessive, 2 Gene Set From OMIM Gene-Disease Associations genes associated with the hypophosphatemic rickets, autosomal recessive, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
?charcot-marie-tooth disease, recessive intermediate, b Gene Set From OMIM Gene-Disease Associations genes associated with the ?charcot-marie-tooth disease, recessive intermediate, b phenotype from the curated OMIM Gene-Disease Associations dataset.
cutis laxa, autosomal recessive, type ic Gene Set From OMIM Gene-Disease Associations genes associated with the cutis laxa, autosomal recessive, type ic phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 35, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 35, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
weill-marchesani syndrome 1, recessive Gene Set From OMIM Gene-Disease Associations genes associated with the weill-marchesani syndrome 1, recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 42 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 42 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 40 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 40 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 46 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 46 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 45 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 45 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 44 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 44 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 48 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 48 phenotype from the curated OMIM Gene-Disease Associations dataset.
corneal endothelial dystrophy 2, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the corneal endothelial dystrophy 2, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
?deafness, autosomal recessive 44 Gene Set From OMIM Gene-Disease Associations genes associated with the ?deafness, autosomal recessive 44 phenotype from the curated OMIM Gene-Disease Associations dataset.
nemaline myopathy 7, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the nemaline myopathy 7, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
cutis laxa, autosomal recessive, type iia Gene Set From OMIM Gene-Disease Associations genes associated with the cutis laxa, autosomal recessive, type iia phenotype from the curated OMIM Gene-Disease Associations dataset.
cutis laxa, autosomal recessive, type iib Gene Set From OMIM Gene-Disease Associations genes associated with the cutis laxa, autosomal recessive, type iib phenotype from the curated OMIM Gene-Disease Associations dataset.
hyperekplexia 2, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the hyperekplexia 2, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
neutropenia, severe congenital 4, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital 4, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
renal tubular acidosis, distal, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the renal tubular acidosis, distal, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 68 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 68 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 61 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 61 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 63 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 63 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 62 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 62 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 65 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 65 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 67 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 67 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 66 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 66 phenotype from the curated OMIM Gene-Disease Associations dataset.
amyotrophic lateral sclerosis 5, juvenile recessive Gene Set From OMIM Gene-Disease Associations genes associated with the amyotrophic lateral sclerosis 5, juvenile recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
ichthyosis, congenital, autosomal recessive 5 Gene Set From OMIM Gene-Disease Associations genes associated with the ichthyosis, congenital, autosomal recessive 5 phenotype from the curated OMIM Gene-Disease Associations dataset.
ichthyosis, congenital, autosomal recessive 6 Gene Set From OMIM Gene-Disease Associations genes associated with the ichthyosis, congenital, autosomal recessive 6 phenotype from the curated OMIM Gene-Disease Associations dataset.
ichthyosis, congenital, autosomal recessive 7 Gene Set From OMIM Gene-Disease Associations genes associated with the ichthyosis, congenital, autosomal recessive 7 phenotype from the curated OMIM Gene-Disease Associations dataset.
ichthyosis, congenital, autosomal recessive 1 Gene Set From OMIM Gene-Disease Associations genes associated with the ichthyosis, congenital, autosomal recessive 1 phenotype from the curated OMIM Gene-Disease Associations dataset.
ichthyosis, congenital, autosomal recessive 2 Gene Set From OMIM Gene-Disease Associations genes associated with the ichthyosis, congenital, autosomal recessive 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
ichthyosis, congenital, autosomal recessive 3 Gene Set From OMIM Gene-Disease Associations genes associated with the ichthyosis, congenital, autosomal recessive 3 phenotype from the curated OMIM Gene-Disease Associations dataset.
ichthyosis, congenital, autosomal recessive 8 Gene Set From OMIM Gene-Disease Associations genes associated with the ichthyosis, congenital, autosomal recessive 8 phenotype from the curated OMIM Gene-Disease Associations dataset.
ichthyosis, congenital, autosomal recessive 9 Gene Set From OMIM Gene-Disease Associations genes associated with the ichthyosis, congenital, autosomal recessive 9 phenotype from the curated OMIM Gene-Disease Associations dataset.
epidermolysis bullosa simplex, recessive 1 Gene Set From OMIM Gene-Disease Associations genes associated with the epidermolysis bullosa simplex, recessive 1 phenotype from the curated OMIM Gene-Disease Associations dataset.
nemaline myopathy 3, autosomal dominant or recessive Gene Set From OMIM Gene-Disease Associations genes associated with the nemaline myopathy 3, autosomal dominant or recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
night blindness, congenital stationary (complete), 1d, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the night blindness, congenital stationary (complete), 1d, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 50, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 50, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
?deafness, autosomal recessive 88 Gene Set From OMIM Gene-Disease Associations genes associated with the ?deafness, autosomal recessive 88 phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 44, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 44, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 15, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 15, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 9 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 9 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 2 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 3 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 3 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 6 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 6 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 7 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 7 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness , autosomal recessive 86 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness , autosomal recessive 86 phenotype from the curated OMIM Gene-Disease Associations dataset.
anemia, sideroblastic, pyridoxine-refractory, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the anemia, sideroblastic, pyridoxine-refractory, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 41 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 41 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 25 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 25 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 24 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 24 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 27 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 27 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 26 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 26 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 21 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 21 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 20 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 20 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 23 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 23 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 22 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 22 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 29 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 29 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 28 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 28 phenotype from the curated OMIM Gene-Disease Associations dataset.
mitochondrial recessive ataxia syndrome (includes sando and scae) Gene Set From OMIM Gene-Disease Associations genes associated with the mitochondrial recessive ataxia syndrome (includes sando and scae) phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive, 11 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive, 11 phenotype from the curated OMIM Gene-Disease Associations dataset.
myoglobinuria, acute recurrent, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the myoglobinuria, acute recurrent, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 5 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 5 phenotype from the curated OMIM Gene-Disease Associations dataset.
cataract 18, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the cataract 18, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
thyroid hormone resistance, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the thyroid hormone resistance, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
tetra-amelia, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the tetra-amelia, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
factor xi deficiency, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the factor xi deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
robinow syndrome, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the robinow syndrome, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
retinal degeneration, autosomal recessive, clumped pigment type Gene Set From OMIM Gene-Disease Associations genes associated with the retinal degeneration, autosomal recessive, clumped pigment type phenotype from the curated OMIM Gene-Disease Associations dataset.
?spastic paraplegia 72, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the ?spastic paraplegia 72, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 49, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 49, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
microcephaly 4, primary, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the microcephaly 4, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
parkinson disease 7, autosomal recessive early-onset Gene Set From OMIM Gene-Disease Associations genes associated with the parkinson disease 7, autosomal recessive early-onset phenotype from the curated OMIM Gene-Disease Associations dataset.
osteopetrosis, autosomal recessive 2 Gene Set From OMIM Gene-Disease Associations genes associated with the osteopetrosis, autosomal recessive 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
osteopetrosis, autosomal recessive 1 Gene Set From OMIM Gene-Disease Associations genes associated with the osteopetrosis, autosomal recessive 1 phenotype from the curated OMIM Gene-Disease Associations dataset.
osteopetrosis, autosomal recessive 7 Gene Set From OMIM Gene-Disease Associations genes associated with the osteopetrosis, autosomal recessive 7 phenotype from the curated OMIM Gene-Disease Associations dataset.
osteopetrosis, autosomal recessive 6 Gene Set From OMIM Gene-Disease Associations genes associated with the osteopetrosis, autosomal recessive 6 phenotype from the curated OMIM Gene-Disease Associations dataset.
osteopetrosis, autosomal recessive 5 Gene Set From OMIM Gene-Disease Associations genes associated with the osteopetrosis, autosomal recessive 5 phenotype from the curated OMIM Gene-Disease Associations dataset.
osteopetrosis, autosomal recessive 4 Gene Set From OMIM Gene-Disease Associations genes associated with the osteopetrosis, autosomal recessive 4 phenotype from the curated OMIM Gene-Disease Associations dataset.
osteopetrosis, autosomal recessive 8 Gene Set From OMIM Gene-Disease Associations genes associated with the osteopetrosis, autosomal recessive 8 phenotype from the curated OMIM Gene-Disease Associations dataset.
woolly hair, autosomal recessive 2 with or without hypotrichosis Gene Set From OMIM Gene-Disease Associations genes associated with the woolly hair, autosomal recessive 2 with or without hypotrichosis phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 7, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 7, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spondylocostal dysostosis 4, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spondylocostal dysostosis 4, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 54, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 54, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 83 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 83 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 89 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 89 phenotype from the curated OMIM Gene-Disease Associations dataset.
corneal clouding, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the corneal clouding, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
ichthyosis, congenital, autosomal recessive 10 Gene Set From OMIM Gene-Disease Associations genes associated with the ichthyosis, congenital, autosomal recessive 10 phenotype from the curated OMIM Gene-Disease Associations dataset.
ichthyosis, congenital, autosomal recessive 11 Gene Set From OMIM Gene-Disease Associations genes associated with the ichthyosis, congenital, autosomal recessive 11 phenotype from the curated OMIM Gene-Disease Associations dataset.
?microcephaly 12, primary, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the ?microcephaly 12, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
microcephaly 7, primary, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the microcephaly 7, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
segawa syndrome, recessive Gene Set From OMIM Gene-Disease Associations genes associated with the segawa syndrome, recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
microcephaly and chorioretinopathy, autosomal recessive, 2 Gene Set From OMIM Gene-Disease Associations genes associated with the microcephaly and chorioretinopathy, autosomal recessive, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
microcephaly and chorioretinopathy, autosomal recessive, 1 Gene Set From OMIM Gene-Disease Associations genes associated with the microcephaly and chorioretinopathy, autosomal recessive, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.
?microcephaly 13, primary, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the ?microcephaly 13, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
ataxia, spastic, 5, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the ataxia, spastic, 5, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
?spastic paraplegia 61, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the ?spastic paraplegia 61, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 48, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 48, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
cornea plana congenita, recessive Gene Set From OMIM Gene-Disease Associations genes associated with the cornea plana congenita, recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
?spastic paraplegia 57, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the ?spastic paraplegia 57, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
oculodentodigital dysplasia, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the oculodentodigital dysplasia, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 1 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 1 phenotype from the curated OMIM Gene-Disease Associations dataset.
?spondylocostal dysostosis 3, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the ?spondylocostal dysostosis 3, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
phosphorylase kinase deficiency of liver and muscle, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the phosphorylase kinase deficiency of liver and muscle, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
candidiasis, familial, 2, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the candidiasis, familial, 2, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 49 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 49 phenotype from the curated OMIM Gene-Disease Associations dataset.
macrocephaly/megalencephaly syndrome, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the macrocephaly/megalencephaly syndrome, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
progressive external ophthalmoplegia, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the progressive external ophthalmoplegia, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
nemaline myopathy 2, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the nemaline myopathy 2, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
cataract 38, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the cataract 38, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
?agammaglobulinemia 7, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the ?agammaglobulinemia 7, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
?microcephaly 10, primary, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the ?microcephaly 10, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spinocerebellar ataxia, autosomal recessive with axonal neuropathy Gene Set From OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia, autosomal recessive with axonal neuropathy phenotype from the curated OMIM Gene-Disease Associations dataset.
?mental retardation, autosomal recessive, 37 Gene Set From OMIM Gene-Disease Associations genes associated with the ?mental retardation, autosomal recessive, 37 phenotype from the curated OMIM Gene-Disease Associations dataset.
persistent hyperplastic primary vitreous, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the persistent hyperplastic primary vitreous, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
auditory neuropathy, autosomal recessive, 1 Gene Set From OMIM Gene-Disease Associations genes associated with the auditory neuropathy, autosomal recessive, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.
Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3) Gene Set From Reactome Pathways 2014 proteins participating in the Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3) pathway from the Reactome Pathways dataset.
Defective CYP2U1 causes Spastic paraplegia 56, autosomal recessive (SPG56) Gene Set From Reactome Pathways 2014 proteins participating in the Defective CYP2U1 causes Spastic paraplegia 56, autosomal recessive (SPG56) pathway from the Reactome Pathways dataset.
Defective CYP4F22 causes Ichthyosis, congenital, autosomal recessive 5 (ARCI5) Gene Set From Reactome Pathways 2014 proteins participating in the Defective CYP4F22 causes Ichthyosis, congenital, autosomal recessive 5 (ARCI5) pathway from the Reactome Pathways dataset.
Alacrima, Congenital, Autosomal Recessive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Alacrima, Congenital, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Retinitis Pigmentosa Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Retinitis Pigmentosa in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Polycystic Kidney Disease Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Polycystic Kidney Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Centronuclear Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Centronuclear Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Vah, Autosomal Recessive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Vah, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Osteopetrosis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Osteopetrosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Hereditary Spastic Paraplegia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Hereditary Spastic Paraplegia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Hyperimmunoglobulin M Syndrome Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Hyperimmunoglobulin M Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Primary Microcephaly Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Primary Microcephaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Parkinsonism Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Parkinsonism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Microphthalmos, Autosomal Recessive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Microphthalmos, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Familial Dystonia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Familial Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Craniometaphyseal Dysplasia, Autosomal Recessive Type Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Craniometaphyseal Dysplasia, Autosomal Recessive Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Indifference To Pain, Congenital, Autosomal Recessive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Indifference To Pain, Congenital, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Persistent Hyperplastic Primary Vitreous, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Severe Autosomal Recessive Muscular Dystrophy Of Childhood - North African Type (Disorder) Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Severe Autosomal Recessive Muscular Dystrophy Of Childhood - North African Type (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Agammaglobulinemia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Agammaglobulinemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Complement Component 3 Deficiency, Autosomal Recessive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Complement Component 3 Deficiency, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Limb Girdle Muscular Dystrophy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Limb Girdle Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Scid Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Scid in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Albers-Schonberg Disease, Autosomal Recessive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Albers-Schonberg Disease, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Cerebral Autosomal Recessive Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Cerebral Autosomal Recessive Arteriopathy With Subcortical Infarcts And Leukoencephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Alport Syndrome, Autosomal Recessive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Alport Syndrome, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Alport Syndrome, Recessive Type Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Alport Syndrome, Recessive Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Myosclerosis, Autosomal Recessive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Myosclerosis, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Centripetalis Recessive Dystrophic Epidermolysis Bullosa Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Centripetalis Recessive Dystrophic Epidermolysis Bullosa in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Localized Recessive Dystrophic Epidermolysis Bullosa Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Localized Recessive Dystrophic Epidermolysis Bullosa in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Severe Generalized Recessive Dystrophic Epidermolysis Bullosa Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Severe Generalized Recessive Dystrophic Epidermolysis Bullosa in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa Of Siemens-Like Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa Of Siemens-Like in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Hypophosphatemic Vitamin D Refractory Rickets Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Hypophosphatemic Vitamin D Refractory Rickets in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Congenital Methemoglobinemia Type I Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Congenital Methemoglobinemia Type I in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Chronic Granulomatous Disease Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Chronic Granulomatous Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Severe Childhood Autosomal Recessive Muscular Dystrophy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Severe Childhood Autosomal Recessive Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Emery-Dreifuss Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Thyroid Hormone Resistance, Generalized, Autosomal Recessive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Thyroid Hormone Resistance, Generalized, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Facio-Digito-Genital Syndrome Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Facio-Digito-Genital Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Bpes, Type I, Autosomal Recessive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Bpes, Type I, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
L-Ferritin Deficiency, Autosomal Recessive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease L-Ferritin Deficiency, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Recessive Sensorineural Hearing Loss Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Recessive Sensorineural Hearing Loss in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Harmonizome 3.0

Autosomal Recessive Ocular Albinism Gene Set

Ocular albinism, type I Gene Set

Ocular Albinism type 1 Gene Set

Albinism ocular late onset sensorineural deafness Gene Set

ocular albinism Gene Set

ocular albinism Gene Set

ocular albinism Gene Set

ocular albinism Gene Set

Albinism, Ocular Gene Set

Ocular albinism protein, type 1 Gene Set

ocular albinism Gene Set

ocular albinism, type i, nettleship-falls type Gene Set

ocular albinism with sensorineural deafness Gene Set

waardenburg syndrome/ocular albinism, digenic Gene Set

Albinism, Ocular Gene Set

Ocular Albinism Gene Set

ocular albinism Gene Set

Ocular albinism 1 Gene Set

Ocular albinism 1 Gene Set

Ocular albinism with sensorineural deafness Gene Set

Ocular albinism Gene Set

chorioretinitis; ocular toxoplasmosis; toxoplasmosis, ocular Gene Set

ocular toxoplasmosis; toxoplasmosis, ocular Gene Set

Ocular coloboma, autosomal recessive Gene Set

?coloboma, ocular, autosomal recessive Gene Set

Tyrosinase-negative oculocutaneous albinism Gene Set

Tyrosinase-positive oculocutaneous albinism Gene Set

Oculocutaneous albinism type 7 Gene Set

Oculocutaneous albinism type 3 Gene Set

Partial albinism Gene Set

Oculocutaneous albinism type 4 Gene Set

Oculocutaneous albinism type 1B Gene Set

Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells Gene Set

Albinism, Oculocutaneous Gene Set

Albinism deafness syndrome Gene Set

Oculocutaneous Albinism, Type IV Gene Set

Oculocutaneous albinism type 2 Gene Set

Oculocutaneous albinism type 3 Gene Set

Oculocutaneous albinism type 1 Gene Set

oculocutaneous albinism Gene Set

oculocutaneous albinism Gene Set

albinism, oculocutaneous Gene Set

type ib (yellow) oculocutaneous albinism Gene Set

oculocutaneous albinism Gene Set

oculocutaneous albinism type 4 Gene Set

oculocutaneous albinism type 2 Gene Set

type i-a (tyrosinase-negative) oculocutaneous albinism Gene Set

albinism Gene Set

albinism Gene Set

partial albinism Gene Set

Albinism Gene Set

Albinism, Oculocutaneous Gene Set

{albinism, oculocutaneous, type ii, modifier of} Gene Set

albinism, oculocutaneous, type vii Gene Set

waardenburg syndrome/albinism, digenic Gene Set

albinism-deafness syndrome Gene Set

albinism, oculocutaneous, type iv Gene Set

albinism, oculocutaneous, type ia Gene Set

albinism, oculocutaneous, type ii Gene Set

albinism, oculocutaneous, type v Gene Set

albinism, oculocutaneous, type ib Gene Set

albinism, brown oculocutaneous Gene Set

albinism, oculocutaneous, type vi Gene Set

tietz albinism-deafness syndrome Gene Set

albinism, oculocutaneous, type iii Gene Set

Oculocutaneous Albinism Gene Set

Albinism Gene Set

Albinism, Oculocutaneous Gene Set

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells Gene Set

Albinism, Tyrosinase-Negative Gene Set

Albinism, Tyrosinase-Positive Gene Set

Brown Oculocutaneous Albinism Gene Set

Autosomal Dominant Oculocutaneous Albinism Gene Set

Yellow Mutant Oculocutaneous Albinism Gene Set

Oculocutaneous Albinism, Type Ii, Modifier Of Gene Set

Albinism, Yellow-Mutant Gene Set

Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6) Gene Set

Oculocutaneous albinism Gene Set

Oculocutaneous albinism Gene Set