| Name |
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Albinism or congenital nystagmus Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Albinism or congenital nystagmus phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
eye diseases, hereditary; genetic diseases, x-linked; nystagmus, congenital; nystagmus, pathologic; strabismus Gene SetFrom GAD Gene-Disease Associations genes associated with the disease eye diseases, hereditary; genetic diseases, x-linked; nystagmus, congenital; nystagmus, pathologic; strabismus in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Nystagmus 6, congenital, X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nystagmus 6, congenital, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nystagmus 1, congenital, X- linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nystagmus 1, congenital, X- linked from the curated CTD Gene-Disease Associations dataset. |
Nystagmus 2, congenital, autosomal dominant Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nystagmus 2, congenital, autosomal dominant from the curated CTD Gene-Disease Associations dataset. |
Nystagmus 4, congenital, autosomal dominant Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nystagmus 4, congenital, autosomal dominant from the curated CTD Gene-Disease Associations dataset. |
NYSTAGMUS 5, CONGENITAL, X-LINKED Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NYSTAGMUS 5, CONGENITAL, X-LINKED from the curated CTD Gene-Disease Associations dataset. |
NYSTAGMUS 6, CONGENITAL, X-LINKED Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NYSTAGMUS 6, CONGENITAL, X-LINKED from the curated CTD Gene-Disease Associations dataset. |
Nystagmus 3, congenital, autosomal dominant Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nystagmus 3, congenital, autosomal dominant from the curated CTD Gene-Disease Associations dataset. |
Nystagmus, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nystagmus, Congenital from the curated CTD Gene-Disease Associations dataset. |
congenital nystagmus Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital nystagmus in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital nystagmus Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital nystagmus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
nystagmus 2, congenital, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the nystagmus 2, congenital, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
nystagmus 7, congenital, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the nystagmus 7, congenital, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
nystagmus 1, congenital, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the nystagmus 1, congenital, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
nystagmus 3, congenital, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the nystagmus 3, congenital, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
nystagmus 6, congenital, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the nystagmus 6, congenital, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
nystagmus 5, congenital, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the nystagmus 5, congenital, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
nystagmus 4, congenital, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the nystagmus 4, congenital, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
Congenital Nystagmus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Nystagmus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nystagmus 6, Congenital, X-Linked Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Nystagmus 6, Congenital, X-Linked in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital nystagmus 1 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital nystagmus 1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Congenital nystagmus Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Congenital nystagmus from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Congenital nystagmus Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital nystagmus in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital nystagmus 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital nystagmus 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital nystagmus 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital nystagmus 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Congenital nystagmus 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Congenital nystagmus 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Ocular albinism, type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ocular albinism, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Tyrosinase-negative oculocutaneous albinism Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Oculocutaneous albinism type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Partial albinism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Partial albinism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Oculocutaneous albinism type 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Oculocutaneous albinism type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ocular Albinism type 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ocular Albinism type 1 from the curated CTD Gene-Disease Associations dataset. |
Oculocutaneous albinism type 1B Gene SetFrom 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 SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Albinism, Oculocutaneous from the curated CTD Gene-Disease Associations dataset. |
Albinism deafness syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Albinism deafness syndrome from the curated CTD Gene-Disease Associations dataset. |
Albinism ocular late onset sensorineural deafness Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Albinism ocular late onset sensorineural deafness from the curated CTD Gene-Disease Associations dataset. |
Oculocutaneous Albinism, Type IV Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Oculocutaneous albinism type 1 from the curated CTD Gene-Disease Associations dataset. |
ocular albinism Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease ocular albinism from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
oculocutaneous albinism Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease oculocutaneous albinism from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
ocular albinism Gene SetFrom 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. |
oculocutaneous albinism Gene SetFrom 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 SetFrom 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 SetFrom 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. |
ocular albinism Gene SetFrom 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. |
oculocutaneous albinism Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
ocular albinism Gene SetFrom 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. |
partial albinism Gene SetFrom 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 SetFrom 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 SetFrom 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, Ocular Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom OMIM Gene-Disease Associations genes associated with the ocular albinism, type i, nettleship-falls type phenotype from the curated OMIM Gene-Disease Associations dataset. |
{albinism, oculocutaneous, type ii, modifier of} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {albinism, oculocutaneous, type ii, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset. |
ocular albinism with sensorineural deafness Gene SetFrom OMIM Gene-Disease Associations genes associated with the ocular albinism with sensorineural deafness phenotype from the curated OMIM Gene-Disease Associations dataset. |
albinism, oculocutaneous, type vii Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom OMIM Gene-Disease Associations genes associated with the albinism, brown oculocutaneous phenotype from the curated OMIM Gene-Disease Associations dataset. |
waardenburg syndrome/ocular albinism, digenic Gene SetFrom OMIM Gene-Disease Associations genes associated with the waardenburg syndrome/ocular albinism, digenic phenotype from the curated OMIM Gene-Disease Associations dataset. |
albinism, oculocutaneous, type vi Gene SetFrom 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 SetFrom 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 SetFrom OMIM Gene-Disease Associations genes associated with the albinism, oculocutaneous, type iii phenotype from the curated OMIM Gene-Disease Associations dataset. |
Albinism, Ocular Gene SetFrom 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 SetFrom 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. |
Oculocutaneous Albinism Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
Autosomal Recessive Ocular Albinism Gene SetFrom 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. |
Brown Oculocutaneous Albinism Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
ocular albinism Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the ocular albinism phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6) Gene Setproteins participating in the Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6) pathway from the Reactome Pathways 2024 dataset. |
Oculocutaneous albinism Gene SetFrom 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. |
Ocular albinism 1 Gene SetFrom 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 SetFrom 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. |
Oculocutaneous albinism Gene SetFrom 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 SetFrom 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 SetFrom 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. |
Ocular albinism with sensorineural deafness Gene SetFrom 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. |
Oculocutaneous albinism type III Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Oculocutaneous albinism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Nonsyndromic Oculocutaneous Albinism Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Nonsyndromic Oculocutaneous Albinism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Albinism Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Albinism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Ocular albinism Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Ocular albinism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Temperature-sensitive oculocutaneous albinism Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Temperature-sensitive oculocutaneous albinism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked infantile nystagmus Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked infantile nystagmus phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cataract, microphthalmia and nystagmus Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cataract, microphthalmia and nystagmus phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Episodic ataxia with nystagmus Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Episodic ataxia with nystagmus from the curated CTD Gene-Disease Associations dataset. |
Nystagmus, Pathologic Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nystagmus, Pathologic from the curated CTD Gene-Disease Associations dataset. |
spontaneous ocular nystagmus Gene SetFrom 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. |
vestibular nystagmus Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease vestibular nystagmus in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
benign paroxysmal positional nystagmus Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease benign paroxysmal positional nystagmus in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
pathologic nystagmus Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease pathologic nystagmus in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
dissociated nystagmus Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease dissociated nystagmus in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
nystagmus Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term nystagmus in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
horizontal nystagmus Gene SetFrom HPO Gene-Disease Associations genes associated with the horizontal nystagmus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
nystagmus-induced head nodding Gene SetFrom HPO Gene-Disease Associations genes associated with the nystagmus-induced head nodding phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
gaze-evoked horizontal nystagmus Gene SetFrom HPO Gene-Disease Associations genes associated with the gaze-evoked horizontal nystagmus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
rotary nystagmus Gene SetFrom HPO Gene-Disease Associations genes associated with the rotary nystagmus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
horizontal pendular nystagmus Gene SetFrom HPO Gene-Disease Associations genes associated with the horizontal pendular nystagmus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
nystagmus Gene SetFrom HPO Gene-Disease Associations genes associated with the nystagmus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
gaze-evoked nystagmus Gene SetFrom HPO Gene-Disease Associations genes associated with the gaze-evoked nystagmus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
pendular nystagmus Gene SetFrom HPO Gene-Disease Associations genes associated with the pendular nystagmus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
vertical nystagmus Gene SetFrom HPO Gene-Disease Associations genes associated with the vertical nystagmus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
downbeat nystagmus Gene SetFrom HPO Gene-Disease Associations genes associated with the downbeat nystagmus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
nystagmus, infantile periodic alternating, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the nystagmus, infantile periodic alternating, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, with or without nystagmus Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, with or without nystagmus phenotype from the curated OMIM Gene-Disease Associations dataset. |
Nystagmus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Nystagmus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Infantile Nystagmus Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Infantile Nystagmus Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Horizontal Pendular Nystagmus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Horizontal Pendular Nystagmus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Horizontal Nystagmus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Horizontal Nystagmus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Pendular Nystagmus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pendular Nystagmus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Vertical Nystagmus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Vertical Nystagmus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
X-Linked Infantile Nystagmus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease X-Linked Infantile Nystagmus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Rotary Nystagmus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Rotary Nystagmus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Periodic Alternating Nystagmus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Periodic Alternating Nystagmus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Manifest-Latent Nystagmus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Manifest-Latent Nystagmus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Conjugate Nystagmus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Conjugate Nystagmus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Convergence Nystagmus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Convergence Nystagmus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dissociated Nystagmus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dissociated Nystagmus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Fatigable Positional Nystagmus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Fatigable Positional Nystagmus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Jerk Nystagmus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Jerk Nystagmus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Multidirectional Nystagmus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Multidirectional Nystagmus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Non-Fatigable Positional Nystagmus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Non-Fatigable Positional Nystagmus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Permanent Nystagmus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Permanent Nystagmus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Rebound Nystagmus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Rebound Nystagmus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Retraction Nystagmus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Retraction Nystagmus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
See-Saw Nystagmus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease See-Saw Nystagmus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Spontaneous Ocular Nystagmus Gene SetFrom 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. |
Symptomatic Nystagmus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Symptomatic Nystagmus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Temporary Nystagmus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Temporary Nystagmus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Unidirectional Nystagmus Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Unidirectional Nystagmus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nystagmus Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Nystagmus in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Infantile Nystagmus Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Infantile Nystagmus in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Downbeat Nystagmus Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Downbeat Nystagmus in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Gaze-Evoked Horizontal Nystagmus Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Gaze-Evoked Horizontal Nystagmus in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Elliptical Nystagmus Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Elliptical Nystagmus in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Pathologic nystagmus Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Pathologic nystagmus from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Pathologic nystagmus Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Pathologic nystagmus in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Dissociated nystagmus Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Dissociated nystagmus in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spontaneous ocular nystagmus Gene SetFrom 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. |
Vestibular nystagmus Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Vestibular nystagmus in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nystagmus Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Nystagmus phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Horizontal nystagmus Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Horizontal nystagmus phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Rotary nystagmus Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Rotary nystagmus phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Idiopathic downbeat nystagmus Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Idiopathic downbeat nystagmus phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
congenital heart defects; heart defects, congenital; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; heart defects, congenital; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
atrial septal defects; cardiomyopathy, dilated; congenital heart defects; dcm - dilated cardiomyopathy; heart defects, congenital; heart septal defects, atrial Gene SetFrom GAD Gene-Disease Associations genes associated with the disease atrial septal defects; cardiomyopathy, dilated; congenital heart defects; dcm - dilated cardiomyopathy; heart defects, congenital; heart septal defects, atrial in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; folic acid deficiency; heart defects, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; folic acid deficiency; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adrenal hyperplasia, congenital; congenital adrenal hyperplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adrenal hyperplasia, congenital; congenital adrenal hyperplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; heart defects, congenital; obesity Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; heart defects, congenital; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
birth weight; congenital abnormalities; heart defects, congenital; postoperative complications; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease birth weight; congenital abnormalities; heart defects, congenital; postoperative complications; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; coronary disease; coronary heart disease; heart defects, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; coronary disease; coronary heart disease; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cleft lip; cleft palate; congenital heart defects; heart defects, congenital; hyperhomocysteinemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cleft lip; cleft palate; congenital heart defects; heart defects, congenital; hyperhomocysteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adrenal hyperplasia, congenital; cardiovascular diseases; congenital adrenal hyperplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adrenal hyperplasia, congenital; cardiovascular diseases; congenital adrenal hyperplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; heart defects, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; heart defects, congenital; ventricular outflow obstruction Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; heart defects, congenital; ventricular outflow obstruction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; heart defects, congenital; nervous system diseases Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; heart defects, congenital; nervous system diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
atrial septal defects; congenital heart defects; heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular; ventricular septal defects Gene SetFrom GAD Gene-Disease Associations genes associated with the disease atrial septal defects; congenital heart defects; heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular; ventricular septal defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
body weight; congenital heart defects; growth disorders; heart defects, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease body weight; congenital heart defects; growth disorders; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; down syndrome; heart defects, congenital; heart septal defects Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; down syndrome; heart defects, congenital; heart septal defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; coloboma; congenital heart defects; disease models, animal; facial paralysis; heart defects, congenital; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; coloboma; congenital heart defects; disease models, animal; facial paralysis; heart defects, congenital; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects; heart defects, congenital; heart septal defects; tetralogy of fallot Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects; heart defects, congenital; heart septal defects; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
aortic coarctation; aortic valve stenosis; congenital heart defects; discrete subaortic stenosis; heart defects, congenital; hypoplastic left heart syndrome; pulmonary valve stenosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease aortic coarctation; aortic valve stenosis; congenital heart defects; discrete subaortic stenosis; heart defects, congenital; hypoplastic left heart syndrome; pulmonary valve stenosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adrenal hyperplasia, congenital; congenital adrenal hyperplasia; virilism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adrenal hyperplasia, congenital; congenital adrenal hyperplasia; virilism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Heart Defects, Congenital, And Other Congenital Anomalies Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Heart Defects, Congenital, And Other Congenital Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital myotonia, autosomal dominant form Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital myotonia, autosomal dominant form phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital adrenal hyperplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital adrenal hyperplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital human immunodeficiency virus Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital human immunodeficiency virus phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Diarrhea 5, with tufting enteropathy, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Diarrhea 5, with tufting enteropathy, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Vertical talus, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Vertical talus, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital generalized lipodystrophy type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital generalized lipodystrophy type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glycogen storage disease IV, congenital neuromuscular Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glycogen storage disease IV, congenital neuromuscular phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Facial paresis, hereditary congenital, 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Facial paresis, hereditary congenital, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital glucose-galactose malabsorption Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital glucose-galactose malabsorption phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital sensory neuropathy with selective loss of small myelinated fibers Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital sensory neuropathy with selective loss of small myelinated fibers phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, with pre- and postsynaptic defects Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, with pre- and postsynaptic defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, actin, congenital, with cores Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, actin, congenital, with cores phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aphakia, congenital primary Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aphakia, congenital primary phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lipodystrophy, congenital generalized, type 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lipodystrophy, congenital generalized, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital contractural arachnodactyly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital contractural arachnodactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 11 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital absence of salivary gland Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital absence of salivary gland phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Merosin deficient congenital muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Merosin deficient congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital stationary night blindness, autosomal dominant 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, autosomal dominant 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Afibrinogenemia, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Afibrinogenemia, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, congenital heart defects, and posterior embryotoxon Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deafness, congenital heart defects, and posterior embryotoxon phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Walker-Warburg congenital muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Walker-Warburg congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fibrosis of extraocular muscles, congenital, 3b Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fibrosis of extraocular muscles, congenital, 3b phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital amegakaryocytic thrombocytopenia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital amegakaryocytic thrombocytopenia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, fast-channel Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, fast-channel phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cataract, autosomal recessive congenital 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cataract, autosomal recessive congenital 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Diarrhea 3, secretory sodium, congenital, syndromic Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Diarrhea 3, secretory sodium, congenital, syndromic phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 3, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 3, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital dyserythropoietic anemia, type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital dyserythropoietic anemia, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital adrenal hypoplasia, X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital adrenal hypoplasia, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lethal congenital contracture syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lethal congenital contracture syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital secretory diarrhea, chloride type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital secretory diarrhea, chloride type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypomyelination and Congenital Cataract Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypomyelination and Congenital Cataract phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fibrosis of extraocular muscles, congenital, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fibrosis of extraocular muscles, congenital, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fibrosis of extraocular muscles, congenital, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fibrosis of extraocular muscles, congenital, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Testicular anomalies with or without congenital heart disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Testicular anomalies with or without congenital heart disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
LIPOPROTEIN(a) DEFICIENCY, CONGENITAL Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the LIPOPROTEIN(a) DEFICIENCY, CONGENITAL phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital short bowel syndrome, X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital short bowel syndrome, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital heart disease, multiple types, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital heart disease, multiple types, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, slow-channel congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, slow-channel congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Indifference to pain, congenital, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Indifference to pain, congenital, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital stationary night blindness, autosomal dominant 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, autosomal dominant 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lethal congenital contractural syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lethal congenital contractural syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital heart defects, multiple types, 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital heart defects, multiple types, 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital erythropoietic porphyria Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital erythropoietic porphyria phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
congenital neutropenia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the congenital neutropenia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypothyroidism, congenital, nongoitrous, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypothyroidism, congenital, nongoitrous, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypothyroidism, congenital, nongoitrous, 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypothyroidism, congenital, nongoitrous, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypothyroidism, congenital, nongoitrous, 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypothyroidism, congenital, nongoitrous, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1s Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1s phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1L Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1L phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, actin, congenital, with excess of thin myofilaments Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, actin, congenital, with excess of thin myofilaments phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple congenital anomalies-hypotonia-seizures syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Rett syndrome, congenital variant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Rett syndrome, congenital variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive congenital ichthyosis 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Eichsfeld type congenital muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Eichsfeld type congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 2B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 2B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 2C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 2C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 2J Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 2J phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 2L Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 2L phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 2k Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 2k phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, congenital, with excess of muscle spindles Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, congenital, with excess of muscle spindles phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital lactase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital lactase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital myotonia, autosomal recessive form Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital myotonia, autosomal recessive form phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 6, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 6, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1Q Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1Q phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1P Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1P phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1H Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1H phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, with tubular aggregates 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, with tubular aggregates 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1N Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1N phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Finnish congenital nephrotic syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Finnish congenital nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bile acid synthesis defect, congenital, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bile acid synthesis defect, congenital, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bile acid synthesis defect, congenital, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bile acid synthesis defect, congenital, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1F Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1F phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1v Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1v phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cataract, congenital nuclear, autosomal recessive 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cataract, congenital nuclear, autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cataract, congenital nuclear, autosomal recessive 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cataract, congenital nuclear, autosomal recessive 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spondyloepiphyseal dysplasia with congenital joint dislocations Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spondyloepiphyseal dysplasia with congenital joint dislocations phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Muscular dystrophy, congenital, due to ITGA7 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Muscular dystrophy, congenital, due to ITGA7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Adult i Blood Group with or without Congenital Cataract Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Adult i Blood Group with or without Congenital Cataract phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myopathy, congenital, compton-north Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myopathy, congenital, compton-north phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
T-cell immunodeficiency, congenital alopecia and nail dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the T-cell immunodeficiency, congenital alopecia and nail dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital cystic disease of liver Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital cystic disease of liver phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pancreatic agenesis and congenital heart disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pancreatic agenesis and congenital heart disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type Ix Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type Ix phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital order of glycosylation type 1r Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital order of glycosylation type 1r phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ullrich congenital muscular dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ullrich congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital dyserythropoietic anemia, type II Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital dyserythropoietic anemia, type II phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neuropathy, congenital hypomyelinating, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neuropathy, congenital hypomyelinating, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital stationary night blindness, type 2B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, type 2B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital stationary night blindness, type 2A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital central hypoventilation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital central hypoventilation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital ocular coloboma Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital ocular coloboma phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1K Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1K phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1J Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1J phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1O Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1O phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1E Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1E phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1D Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1D phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1G Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1G phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1y Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1y phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Digital clubbing, isolated congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Digital clubbing, isolated congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1u Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1u phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital disorder of glycosylation type 1t Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital disorder of glycosylation type 1t phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Anti-plasmin deficiency, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Anti-plasmin deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Prothrombin deficiency, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Prothrombin deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 2, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital defect of folate absorption Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital defect of folate absorption phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe congenital neutropenia 4, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 4, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lethal congenital contracture syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lethal congenital contracture syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital aniridia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital aniridia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital long QT syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital long QT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital hyperammonemia, type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital hyperammonemia, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy due to partial LAMA2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy due to partial LAMA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple congenital exostosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple congenital exostosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive congenital ichthyosis 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive congenital ichthyosis 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive congenital ichthyosis 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive congenital ichthyosis 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive congenital ichthyosis 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glutamine deficiency, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glutamine deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple congenital anomalies-hypotonia-seizures syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple congenital anomalies-hypotonia-seizures syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital microvillous atrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital microvillous atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 15 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leber congenital amaurosis 17 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leber congenital amaurosis 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Partial congenital absence of teeth Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Partial congenital absence of teeth phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cataract, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cataract, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital stationary night blindness, type 1C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, type 1C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital stationary night blindness, type 1B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital stationary night blindness, type 1A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, type 1A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital stationary night blindness, type 1F Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, type 1F phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital stationary night blindness, type 1E Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital stationary night blindness, type 1E phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive congenital ichthyosis 4A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 4A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive congenital ichthyosis 4B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 4B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital myasthenic syndrome, acetazolamide-responsive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital myasthenic syndrome, acetazolamide-responsive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glaucoma, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glaucoma, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital Cataracts, Facial Dysmorphism, and Neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital Cataracts, Facial Dysmorphism, and Neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular hypertrophy-cerebral syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular hypertrophy-cerebral syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital Stromal Corneal Dystrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital Stromal Corneal Dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital myopathy with fiber type disproportion Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital myopathy with fiber type disproportion phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital Hyperinsulinism Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Hyperinsulinism from the curated CTD Gene-Disease Associations dataset. |
Cataract congenital Volkmann type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cataract congenital Volkmann type from the curated CTD Gene-Disease Associations dataset. |
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital adrenal hyperplasia due to 21 hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset. |
Congenital Hypothyroidism Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Hypothyroidism from the curated CTD Gene-Disease Associations dataset. |
Congenital bilateral aplasia of vas deferens Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital bilateral aplasia of vas deferens from the curated CTD Gene-Disease Associations dataset. |
Congenital Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Anemia, Hemolytic, Congenital Nonspherocytic Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anemia, Hemolytic, Congenital Nonspherocytic from the curated CTD Gene-Disease Associations dataset. |
Night Blindness, Congenital Stationary, Autosomal Dominant 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Night Blindness, Congenital Stationary, Autosomal Dominant 3 from the curated CTD Gene-Disease Associations dataset. |
Hypothyroidism, Congenital, Nongoitrous, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypothyroidism, Congenital, Nongoitrous, 4 from the curated CTD Gene-Disease Associations dataset. |
Leber Congenital Amaurosis 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leber Congenital Amaurosis 4 from the curated CTD Gene-Disease Associations dataset. |
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia from the curated CTD Gene-Disease Associations dataset. |
Congenital idiopathic intestinal pseudoobstruction Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital idiopathic intestinal pseudoobstruction from the curated CTD Gene-Disease Associations dataset. |
Vertical talus, congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Vertical talus, congenital from the curated CTD Gene-Disease Associations dataset. |
Facial paresis, hereditary, congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Facial paresis, hereditary, congenital from the curated CTD Gene-Disease Associations dataset. |
Congenital anosmia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital anosmia from the curated CTD Gene-Disease Associations dataset. |
Hypothyroidism, Congenital, Nongoitrous, 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypothyroidism, Congenital, Nongoitrous, 5 from the curated CTD Gene-Disease Associations dataset. |
Hyperferritinemia, hereditary, with congenital cataracts Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hyperferritinemia, hereditary, with congenital cataracts from the curated CTD Gene-Disease Associations dataset. |
Ichthyosiform erythroderma, Brocq congenital, nonbullous form Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ichthyosiform erythroderma, Brocq congenital, nonbullous form from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, Autosomal Dominant 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Dominant 2 from the curated CTD Gene-Disease Associations dataset. |
Hernias, Diaphragmatic, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hernias, Diaphragmatic, Congenital from the curated CTD Gene-Disease Associations dataset. |
Congenital Disorder Of Glycosylation, Type IIF Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Disorder Of Glycosylation, Type IIF from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1A Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1A from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation, type 2C Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation, type 2C from the curated CTD Gene-Disease Associations dataset. |
Lethal Congenital Contracture Syndrome 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lethal Congenital Contracture Syndrome 2 from the curated CTD Gene-Disease Associations dataset. |
Aphakia, congenital primary Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Aphakia, congenital primary from the curated CTD Gene-Disease Associations dataset. |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities from the curated CTD Gene-Disease Associations dataset. |
Congenital thrombotic disease, due to Protein C deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital thrombotic disease, due to Protein C deficiency from the curated CTD Gene-Disease Associations dataset. |
Hypothyroidism, Congenital, Nongoitrous, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypothyroidism, Congenital, Nongoitrous, 3 from the curated CTD Gene-Disease Associations dataset. |
Congenital contractural arachnodactyly Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital contractural arachnodactyly from the curated CTD Gene-Disease Associations dataset. |
Lactase Deficiency, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lactase Deficiency, Congenital from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 2D Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 2D from the curated CTD Gene-Disease Associations dataset. |
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects from the curated CTD Gene-Disease Associations dataset. |
Anti-plasmin deficiency, congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anti-plasmin deficiency, congenital from the curated CTD Gene-Disease Associations dataset. |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq from the curated CTD Gene-Disease Associations dataset. |
Muscular dystrophy congenital, merosin negative Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular dystrophy congenital, merosin negative from the curated CTD Gene-Disease Associations dataset. |
Indifference to Pain, Congenital, Autosomal Recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Indifference to Pain, Congenital, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
Ptosis, Hereditary Congenital 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ptosis, Hereditary Congenital 1 from the curated CTD Gene-Disease Associations dataset. |
Pain Insensitivity, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pain Insensitivity, Congenital from the curated CTD Gene-Disease Associations dataset. |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi from the curated CTD Gene-Disease Associations dataset. |
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1G Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1G from the curated CTD Gene-Disease Associations dataset. |
Congenital amegakaryocytic thrombocytopenia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital amegakaryocytic thrombocytopenia from the curated CTD Gene-Disease Associations dataset. |
Adrenal Hyperplasia, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Adrenal Hyperplasia, Congenital from the curated CTD Gene-Disease Associations dataset. |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B from the curated CTD Gene-Disease Associations dataset. |
Anemia, Hypoplastic, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anemia, Hypoplastic, Congenital from the curated CTD Gene-Disease Associations dataset. |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Cataracts, Facial Dysmorphism, And Neuropathy from the curated CTD Gene-Disease Associations dataset. |
Lipodystrophy, Congenital Generalized Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lipodystrophy, Congenital Generalized from the curated CTD Gene-Disease Associations dataset. |
Congenital hypertrichosis lanuginosa Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital hypertrichosis lanuginosa from the curated CTD Gene-Disease Associations dataset. |
Leber Congenital Amaurosis 10 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leber Congenital Amaurosis 10 from the curated CTD Gene-Disease Associations dataset. |
Hypothyroidism, Congenital, Nongoitrous, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypothyroidism, Congenital, Nongoitrous, 2 from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Congenital, Compton-North Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Congenital, Compton-North from the curated CTD Gene-Disease Associations dataset. |
Leber Congenital Amaurosis 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leber Congenital Amaurosis 3 from the curated CTD Gene-Disease Associations dataset. |
Congenital Disorder of Glycosylation, Type Io Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Disorder of Glycosylation, Type Io from the curated CTD Gene-Disease Associations dataset. |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Congenital central hypoventilation syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital central hypoventilation syndrome from the curated CTD Gene-Disease Associations dataset. |
Congenital Disorder Of Glycosylation, Type Im Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Disorder Of Glycosylation, Type Im from the curated CTD Gene-Disease Associations dataset. |
Congenital Disorder Of Glycosylation, Type In Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Disorder Of Glycosylation, Type In from the curated CTD Gene-Disease Associations dataset. |
Cataract, Congenital Zonular, with Sutural Opacities Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cataract, Congenital Zonular, with Sutural Opacities from the curated CTD Gene-Disease Associations dataset. |
Lethal congenital contracture syndrome 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lethal congenital contracture syndrome 1 from the curated CTD Gene-Disease Associations dataset. |
Microcoria, congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Microcoria, congenital from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 from the curated CTD Gene-Disease Associations dataset. |
Anemia, Hemolytic, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anemia, Hemolytic, Congenital from the curated CTD Gene-Disease Associations dataset. |
Bile acid synthesis defect, congenital, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bile acid synthesis defect, congenital, 2 from the curated CTD Gene-Disease Associations dataset. |
Bile acid synthesis defect, congenital, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bile acid synthesis defect, congenital, 4 from the curated CTD Gene-Disease Associations dataset. |
Muscular Dystrophy, Congenital, 1B Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular Dystrophy, Congenital, 1B from the curated CTD Gene-Disease Associations dataset. |
Leber Congenital Amaurosis 14 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leber Congenital Amaurosis 14 from the curated CTD Gene-Disease Associations dataset. |
ADRENAL HYPOPLASIA, CONGENITAL Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ADRENAL HYPOPLASIA, CONGENITAL from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1H Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1H from the curated CTD Gene-Disease Associations dataset. |
Ptosis, Hereditary Congenital 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ptosis, Hereditary Congenital 2 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 from the curated CTD Gene-Disease Associations dataset. |
Diarrhea 4, Malabsorptive, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Diarrhea 4, Malabsorptive, Congenital from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1J Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1J from the curated CTD Gene-Disease Associations dataset. |
CAPILLARY MALFORMATIONS, CONGENITAL Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CAPILLARY MALFORMATIONS, CONGENITAL from the curated CTD Gene-Disease Associations dataset. |
Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1B Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1B from the curated CTD Gene-Disease Associations dataset. |
Nephrosis, congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nephrosis, congenital from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, Autosomal Dominant 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Dominant 1 from the curated CTD Gene-Disease Associations dataset. |
GLAUCOMA 3, PRIMARY CONGENITAL, C Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease GLAUCOMA 3, PRIMARY CONGENITAL, C from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 2A Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 2A from the curated CTD Gene-Disease Associations dataset. |
ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 2E Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 2E from the curated CTD Gene-Disease Associations dataset. |
Muscular Dystrophy, Congenital, Merosin-Positive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular Dystrophy, Congenital, Merosin-Positive from the curated CTD Gene-Disease Associations dataset. |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip from the curated CTD Gene-Disease Associations dataset. |
Myopathies, Structural, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathies, Structural, Congenital from the curated CTD Gene-Disease Associations dataset. |
Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism from the curated CTD Gene-Disease Associations dataset. |
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 from the curated CTD Gene-Disease Associations dataset. |
Bile acid synthesis defect, congenital, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Bile acid synthesis defect, congenital, 1 from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1F Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1F from the curated CTD Gene-Disease Associations dataset. |
Cataract, Autosomal Recessive Congenital 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cataract, Autosomal Recessive Congenital 3 from the curated CTD Gene-Disease Associations dataset. |
Congenital myasthenic syndrome with episodic apnea Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital myasthenic syndrome with episodic apnea from the curated CTD Gene-Disease Associations dataset. |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj from the curated CTD Gene-Disease Associations dataset. |
Preauricular Fistulae, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Preauricular Fistulae, Congenital from the curated CTD Gene-Disease Associations dataset. |
Leber Congenital Amaurosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leber Congenital Amaurosis from the curated CTD Gene-Disease Associations dataset. |
Lower Extremity Deformities, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lower Extremity Deformities, Congenital from the curated CTD Gene-Disease Associations dataset. |
Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay from the curated CTD Gene-Disease Associations dataset. |
Night blindness, congenital stationary Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Night blindness, congenital stationary from the curated CTD Gene-Disease Associations dataset. |
Fibrosis of Extraocular Muscles, Congenital, 3B Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Fibrosis of Extraocular Muscles, Congenital, 3B from the curated CTD Gene-Disease Associations dataset. |
Sucrase-isomaltase deficiency, congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Sucrase-isomaltase deficiency, congenital from the curated CTD Gene-Disease Associations dataset. |
Congenital myasthenic syndrome ib Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital myasthenic syndrome ib from the curated CTD Gene-Disease Associations dataset. |
Polycythemia, primary familial and congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Polycythemia, primary familial and congenital from the curated CTD Gene-Disease Associations dataset. |
Marie Unna congenital hypotrichosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Marie Unna congenital hypotrichosis from the curated CTD Gene-Disease Associations dataset. |
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails from the curated CTD Gene-Disease Associations dataset. |
Leber Congenital Amaurosis 12 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leber Congenital Amaurosis 12 from the curated CTD Gene-Disease Associations dataset. |
Leber Congenital Amaurosis 13 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leber Congenital Amaurosis 13 from the curated CTD Gene-Disease Associations dataset. |
Congenital atransferrinemia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital atransferrinemia from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type II Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type II from the curated CTD Gene-Disease Associations dataset. |
Fibrosis Of Extraocular Muscles, Congenital, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Fibrosis Of Extraocular Muscles, Congenital, 2 from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, X-Linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, X-Linked from the curated CTD Gene-Disease Associations dataset. |
ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR from the curated CTD Gene-Disease Associations dataset. |
RETT SYNDROME, CONGENITAL VARIANT Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease RETT SYNDROME, CONGENITAL VARIANT from the curated CTD Gene-Disease Associations dataset. |
Myasthenic syndrome, congenital, postsynaptic slow-channel Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myasthenic syndrome, congenital, postsynaptic slow-channel from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1K Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1K from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1L Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1L from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1C Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1C from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1E Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1E from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation type 1D Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation type 1D from the curated CTD Gene-Disease Associations dataset. |
Myasthenic Syndromes, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myasthenic Syndromes, Congenital from the curated CTD Gene-Disease Associations dataset. |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A from the curated CTD Gene-Disease Associations dataset. |
Corneal Dystrophy, Congenital Stromal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Corneal Dystrophy, Congenital Stromal from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 from the curated CTD Gene-Disease Associations dataset. |
Hand Deformities, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hand Deformities, Congenital from the curated CTD Gene-Disease Associations dataset. |
PROTHROMBIN DEFICIENCY, CONGENITAL Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease PROTHROMBIN DEFICIENCY, CONGENITAL from the curated CTD Gene-Disease Associations dataset. |
LEBER CONGENITAL AMAUROSIS 15 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease LEBER CONGENITAL AMAUROSIS 15 from the curated CTD Gene-Disease Associations dataset. |
Diarrhea 3, Secretory Sodium, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Diarrhea 3, Secretory Sodium, Congenital from the curated CTD Gene-Disease Associations dataset. |
Congenital disorder of glycosylation, type 2G Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital disorder of glycosylation, type 2G from the curated CTD Gene-Disease Associations dataset. |
Limb Deformities, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Limb Deformities, Congenital from the curated CTD Gene-Disease Associations dataset. |
Pancreatic Agenesis, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pancreatic Agenesis, Congenital from the curated CTD Gene-Disease Associations dataset. |
Hypertrichosis congenital generalized X-linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hypertrichosis congenital generalized X-linked from the curated CTD Gene-Disease Associations dataset. |
Nail dysplasia, isolated congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Nail dysplasia, isolated congenital from the curated CTD Gene-Disease Associations dataset. |
Foot Deformities, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Foot Deformities, Congenital from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 from the curated CTD Gene-Disease Associations dataset. |
Lethal Congenital Contractural Syndrome 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lethal Congenital Contractural Syndrome 3 from the curated CTD Gene-Disease Associations dataset. |
Cataract, Congenital Nuclear, Autosomal Recessive 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cataract, Congenital Nuclear, Autosomal Recessive 1 from the curated CTD Gene-Disease Associations dataset. |
Heart Defects, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Heart Defects, Congenital from the curated CTD Gene-Disease Associations dataset. |
Glaucoma 3, Primary Congenital, D Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glaucoma 3, Primary Congenital, D from the curated CTD Gene-Disease Associations dataset. |
Glaucoma 3, Primary Congenital, A Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glaucoma 3, Primary Congenital, A from the curated CTD Gene-Disease Associations dataset. |
Adrenal hyperplasia, congenital, type 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Adrenal hyperplasia, congenital, type 5 from the curated CTD Gene-Disease Associations dataset. |
Spinal Muscular Atrophy, Distal, Congenital Nonprogressive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spinal Muscular Atrophy, Distal, Congenital Nonprogressive from the curated CTD Gene-Disease Associations dataset. |
Cataract, congenital, with microcornea or slight microphthalmia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cataract, congenital, with microcornea or slight microphthalmia from the curated CTD Gene-Disease Associations dataset. |
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset. |
Lipoid congenital adrenal hyperplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lipoid congenital adrenal hyperplasia from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 from the curated CTD Gene-Disease Associations dataset. |
Myasthenic Syndrome, Congenital, Fast-Channel Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Myasthenic Syndrome, Congenital, Fast-Channel from the curated CTD Gene-Disease Associations dataset. |
Congenital Disorder Of Glycosylation, Type IIH Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Disorder Of Glycosylation, Type IIH from the curated CTD Gene-Disease Associations dataset. |
Glutamine deficiency, congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glutamine deficiency, congenital from the curated CTD Gene-Disease Associations dataset. |
Retinal Nonattachment, Nonsyndromic Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Retinal Nonattachment, Nonsyndromic Congenital from the curated CTD Gene-Disease Associations dataset. |
SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS from the curated CTD Gene-Disease Associations dataset. |
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
Woolly hair, congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Woolly hair, congenital from the curated CTD Gene-Disease Associations dataset. |
Glycogen Storage Disease of Heart, Lethal Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glycogen Storage Disease of Heart, Lethal Congenital from the curated CTD Gene-Disease Associations dataset. |
Cataract, Congenital Nuclear, Autosomal Recessive 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cataract, Congenital Nuclear, Autosomal Recessive 3 from the curated CTD Gene-Disease Associations dataset. |
Diarrhea 5, With Tufting Enteropathy, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Diarrhea 5, With Tufting Enteropathy, Congenital from the curated CTD Gene-Disease Associations dataset. |
Afibrinogenemia congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Afibrinogenemia congenital from the curated CTD Gene-Disease Associations dataset. |
T-cell immunodeficiency, congenital alopecia and nail dystrophy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease T-cell immunodeficiency, congenital alopecia and nail dystrophy from the curated CTD Gene-Disease Associations dataset. |
CATARACT, CONGENITAL OR JUVENILE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CATARACT, CONGENITAL OR JUVENILE from the curated CTD Gene-Disease Associations dataset. |
Night Blindness, Congenital Stationary, Autosomal Dominant 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Night Blindness, Congenital Stationary, Autosomal Dominant 2 from the curated CTD Gene-Disease Associations dataset. |
Cataract, Congenital Nuclear, Autosomal Recessive 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cataract, Congenital Nuclear, Autosomal Recessive 2 from the curated CTD Gene-Disease Associations dataset. |
Lipodystrophy, Congenital Generalized, Type 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lipodystrophy, Congenital Generalized, Type 3 from the curated CTD Gene-Disease Associations dataset. |
Lipodystrophy, Congenital Generalized, Type 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lipodystrophy, Congenital Generalized, Type 4 from the curated CTD Gene-Disease Associations dataset. |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Night Blindness, Congenital Stationary, Autosomal Dominant 1 from the curated CTD Gene-Disease Associations dataset. |
Anemia, Dyserythropoietic, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anemia, Dyserythropoietic, Congenital from the curated CTD Gene-Disease Associations dataset. |
Congenital Disorder Of Glycosylation, Type IIB Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Disorder Of Glycosylation, Type IIB from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, Autosomal Recessive 3 Gene SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Recessive 4 from the curated CTD Gene-Disease Associations dataset. |
Hyperostosis, Cortical, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hyperostosis, Cortical, Congenital from the curated CTD Gene-Disease Associations dataset. |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B from the curated CTD Gene-Disease Associations dataset. |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C from the curated CTD Gene-Disease Associations dataset. |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A from the curated CTD Gene-Disease Associations dataset. |
Muscular Dystrophy, Congenital, Lmna-Related Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular Dystrophy, Congenital, Lmna-Related from the curated CTD Gene-Disease Associations dataset. |
congenital afibrinogenemia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital afibrinogenemia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital disorder of glycosylation Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital disorder of glycosylation from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital heart disease Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital heart disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
ullrich congenital muscular dystrophy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease ullrich congenital muscular dystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital diaphragmatic hernia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital diaphragmatic hernia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
fukuyama congenital muscular dystrophy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease fukuyama congenital muscular dystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital dyserythropoietic anemia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital dyserythropoietic anemia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
severe congenital neutropenia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease severe congenital neutropenia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital generalized lipodystrophy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital generalized lipodystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital hemolytic anemia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital hemolytic anemia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital structural myopathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital structural myopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital nervous system abnormality Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital nervous system abnormality from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital hypoplastic anemia Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital hypoplastic anemia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital muscular dystrophy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital muscular dystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital hypothyroidism Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital hypothyroidism from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital myasthenic syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital myasthenic syndrome from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
leber congenital amaurosis Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease leber congenital amaurosis from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital stationary night blindness Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital stationary night blindness from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
congenital ichthyosiform erythroderma Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease congenital ichthyosiform erythroderma from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
late congenital syphilis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease late congenital syphilis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital disorder of glycosylation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital disorder of glycosylation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital disorder of glycosylation type ii Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital disorder of glycosylation type ii in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital intrinsic factor deficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital intrinsic factor deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital generalized lipodystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital generalized lipodystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital structural myopathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital structural myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital nervous system abnormality Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital nervous system abnormality in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital afibrinogenemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital afibrinogenemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital granular cell tumor Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital granular cell tumor in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital hypogammaglobulinemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital hypogammaglobulinemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital syphilis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital syphilis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
ullrich congenital muscular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease ullrich congenital muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital heart block Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital heart block in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
severe congenital neutropenia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease severe congenital neutropenia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital hypoplastic anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital hypoplastic anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital adrenal insufficiency Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital adrenal insufficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital stationary night blindness Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital stationary night blindness in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital ichthyosiform erythroderma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital ichthyosiform erythroderma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital nonspherocytic hemolytic anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital nonspherocytic hemolytic anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital toxoplasmosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital toxoplasmosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital mesoblastic nephroma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital mesoblastic nephroma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital heart disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital heart disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital dyserythropoietic anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital dyserythropoietic anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital epulis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital epulis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital hemolytic anemia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital hemolytic anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital myasthenic syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital myasthenic syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital muscular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital bile acid synthesis defect Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital bile acid synthesis defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital diaphragmatic hernia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital diaphragmatic hernia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
fukuyama congenital muscular dystrophy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease fukuyama congenital muscular dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital fibrosarcoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital fibrosarcoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital aphakia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital aphakia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
cellular congenital mesoblastic nephroma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease cellular congenital mesoblastic nephroma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
primary congenital glaucoma Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease primary congenital glaucoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital disorder of glycosylation type i Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital disorder of glycosylation type i in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
congenital hypothyroidism Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease congenital hypothyroidism in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
leber congenital amaurosis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease leber congenital amaurosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
primary congenital glaucoma Gene SetFrom GAD Gene-Disease Associations genes associated with the disease primary congenital glaucoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arteriovenous malformations; congenital arteriovenous malformation; intracranial hemorrhages Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arteriovenous malformations; congenital arteriovenous malformation; intracranial hemorrhages in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
glaucoma, primary open-angle; glaucoma, primary congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease glaucoma, primary open-angle; glaucoma, primary congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
retinitis pigmentosa; leber congenital amaurosis; usher syndrome type i Gene SetFrom GAD Gene-Disease Associations genes associated with the disease retinitis pigmentosa; leber congenital amaurosis; usher syndrome type i in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital nuclear cataract Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital nuclear cataract in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart defects Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart defects, congenital; hyperhomocysteinemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart defects, congenital; hyperhomocysteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital central hypoventilation syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital central hypoventilation syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
limb deformities, congenital; rothmund-thomson syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease limb deformities, congenital; rothmund-thomson syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital neutropenia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital neutropenia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
nephropathy, congenital obstructive Gene SetFrom GAD Gene-Disease Associations genes associated with the disease nephropathy, congenital obstructive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chuvash-type congenital polycythemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chuvash-type congenital polycythemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abruptio placentae; congenital abnormalities; fetal growth retardation; intrauterine growth retardation; placenta abruptio; pregnancy complications Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abruptio placentae; congenital abnormalities; fetal growth retardation; intrauterine growth retardation; placenta abruptio; pregnancy complications in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital fibrosis of extraocular muscles type 2 Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital fibrosis of extraocular muscles type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital adrenal hyperplasia (cah) Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital adrenal hyperplasia (cah) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
phenytoin-induced congenital malformations Gene SetFrom GAD Gene-Disease Associations genes associated with the disease phenytoin-induced congenital malformations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital cardiac malformations Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital cardiac malformations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
antiphospholipid syndrome; arterial occlusive diseases; blood coagulation disorders, inherited; cardiomyopathy, dilated; heart defects, congenital; heart diseases; thrombophilia; thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease antiphospholipid syndrome; arterial occlusive diseases; blood coagulation disorders, inherited; cardiomyopathy, dilated; heart defects, congenital; heart diseases; thrombophilia; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adrenal hyperplasia, congenital; hyperandrogenism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adrenal hyperplasia, congenital; hyperandrogenism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital nephrosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital nephrosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hip dislocation, congenital; joint instability Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hip dislocation, congenital; joint instability in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital thrombotic thrombocytopenic purpura Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital thrombotic thrombocytopenic purpura in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dilatation, pathologic; heart defects, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dilatation, pathologic; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cleft lip; cleft palate; congenital abnormalities Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cleft lip; cleft palate; congenital abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
arteriovenous malformations; congenital arteriovenous malformation; hemorrhage Gene SetFrom GAD Gene-Disease Associations genes associated with the disease arteriovenous malformations; congenital arteriovenous malformation; hemorrhage in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anoxia; blood coagulation disorders, inherited; heart defects, congenital; infection; polycythemia; postoperative complications; thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anoxia; blood coagulation disorders, inherited; heart defects, congenital; infection; polycythemia; postoperative complications; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital megacolon; enterocolitis; hirschsprung disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital megacolon; enterocolitis; hirschsprung disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital megacolon; hirschsprung disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital megacolon; hirschsprung disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
glaucoma, primary congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease glaucoma, primary congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital intrinsic factor deficiency. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital intrinsic factor deficiency. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
toxoplasmosis, cerebral; toxoplasmosis, congenital; toxoplasmosis, ocular Gene SetFrom 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. |
ullrich congenital muscular dystrophy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ullrich congenital muscular dystrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
toxoplasmosis, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease toxoplasmosis, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiomyopathies; heart defects, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiomyopathies; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cardiomyopathy; heart anomalies, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cardiomyopathy; heart anomalies, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adrenal hyperplasia, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adrenal hyperplasia, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adenoma; adrenal gland neoplasms; adrenal hyperplasia, congenital; hyperplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adenoma; adrenal gland neoplasms; adrenal hyperplasia, congenital; hyperplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
isolated congenital pituitary hypoplasia and septo-optic dysplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease isolated congenital pituitary hypoplasia and septo-optic dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital bilateral absence of the vas deferens Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital bilateral absence of the vas deferens in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital abnormalities; Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital abnormalities; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart defects, congenital; heart septal defects, ventricular; tetralogy of fallot Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart defects, congenital; heart septal defects, ventricular; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital hypothyroidism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital hypothyroidism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; congenital abnormalities; craniofacial abnormalities; syndrome; translocation, genetic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; congenital abnormalities; craniofacial abnormalities; syndrome; translocation, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart anomalies, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart anomalies, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
cystic kidney diseases; kidney diseases, cystic; leber congenital amaurosis; optic atrophies, hereditary; vision disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease cystic kidney diseases; kidney diseases, cystic; leber congenital amaurosis; optic atrophies, hereditary; vision disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital adrenal hyperplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital adrenal hyperplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart defects, congenital; heart septal defects, ventricular Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart defects, congenital; heart septal defects, ventricular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
down syndrome; heart defects, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease down syndrome; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; ectodermal dysplasia; heart defects, congenital; mental retardation; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; ectodermal dysplasia; heart defects, congenital; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital fibrosis of the extraocular muscles Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital fibrosis of the extraocular muscles in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital haptoglobin deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital haptoglobin deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chorioretinitis; toxoplasmosis, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chorioretinitis; toxoplasmosis, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
adrenal hyperplasia, congenital; autoimmune diseases; opportunistic infections; recurrence Gene SetFrom GAD Gene-Disease Associations genes associated with the disease adrenal hyperplasia, congenital; autoimmune diseases; opportunistic infections; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital abnormalities; mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital abnormalities; mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
wilms' tumor and congenital male genitourinary malformation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease wilms' tumor and congenital male genitourinary malformation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital and subclinical hypothyroidism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital and subclinical hypothyroidism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
late-onset congenital adrenal hyperplasia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease late-onset congenital adrenal hyperplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital ductus arteriosus aneurysm Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital ductus arteriosus aneurysm in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital primary hypothyroidism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital primary hypothyroidism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital abnormalities Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart defects, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital anomalies Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital anomalies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital sick sinus syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital sick sinus syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
disease models, animal; ichthyosiform erythroderma, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease disease models, animal; ichthyosiform erythroderma, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital abnormalities; hypothyroidism; thyroid dysgenesis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital abnormalities; hypothyroidism; thyroid dysgenesis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital megacolon; hirschsprung disease; urea cycle disorders, inborn Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital megacolon; hirschsprung disease; urea cycle disorders, inborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
ichthyosiform erythroderma, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease ichthyosiform erythroderma, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hip dislocation, congenital Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hip dislocation, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
down syndrome; heart defects, congenital; hypertension, pulmonary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease down syndrome; heart defects, congenital; hypertension, pulmonary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital anomalies; cleft lip with or without cleft palate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital anomalies; cleft lip with or without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
leber congenital amaurosis and a normal ocular phenotype Gene SetFrom 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. |
congenital anomalies; renal disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital anomalies; renal disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart defects, congenital; hyperhomocysteinemia; prenatal exposure delayed effects Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart defects, congenital; hyperhomocysteinemia; prenatal exposure delayed effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital athyreosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital athyreosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart anomalies, congenital; pulmonary hypertension Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart anomalies, congenital; pulmonary hypertension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital contractural arachnodactyly Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital contractural arachnodactyly in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
thromboembolism, venous; heart anomalies, congenital; neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate; omphalocele Gene SetFrom GAD Gene-Disease Associations genes associated with the disease thromboembolism, venous; heart anomalies, congenital; neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate; omphalocele in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital hypothyroidism; thyroid dysgenesis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital hypothyroidism; thyroid dysgenesis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart defects, congenital; spinal dysraphism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart defects, congenital; spinal dysraphism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
double outlet right ventricle; heart defects, congenital; pulmonary atresia; tetralogy of fallot; transposition of great vessels; truncus arteriosus, persistent Gene SetFrom GAD Gene-Disease Associations genes associated with the disease double outlet right ventricle; heart defects, congenital; pulmonary atresia; tetralogy of fallot; transposition of great vessels; truncus arteriosus, persistent in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital goiter and defective tg synthesis. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital goiter and defective tg synthesis. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital polycythemia. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital polycythemia. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
autoimmune-associated congenital heart block. Gene SetFrom GAD Gene-Disease Associations genes associated with the disease autoimmune-associated congenital heart block. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
leber congenital amaurosis/lca Gene SetFrom GAD Gene-Disease Associations genes associated with the disease leber congenital amaurosis/lca in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital heart disease Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital heart disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart defects, congenital; tetralogy of fallot Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart defects, congenital; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital uropathies Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital uropathies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital cataracts Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital cataracts in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital hypothyroidism; cretinism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital hypothyroidism; cretinism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
leber congenital amaurosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease leber congenital amaurosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
heart anomalies, congenital; cleft lip with cleft palate; cleft lip without cleft palate Gene SetFrom GAD Gene-Disease Associations genes associated with the disease heart anomalies, congenital; cleft lip with cleft palate; cleft lip without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term congenital in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Leber congenital amaurosis_Retina_GSE3249 Gene SetFrom GEO Signatures of Differentially Expressed Genes for Diseases genes differentially expressed during Leber congenital amaurosis_Retina_GSE3249 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. |
Congenital heart malformation Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Congenital heart malformation phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Congenital heart disease Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Congenital heart disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
congenital heart disease Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease congenital heart disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
congenital hemolytic anemia Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease congenital hemolytic anemia in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
congenital glaucoma Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the congenital glaucoma phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
primary congenital glaucoma Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the primary congenital glaucoma phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
congenital stapes ankylosis Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital stapes ankylosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital microcephaly Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital microcephaly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive congenital scoliosis Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive congenital scoliosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital hypoparathyroidism Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital hypoparathyroidism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital nuclear cataract Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital nuclear cataract phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital neutropenia Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital neutropenia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital ptosis Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital ptosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital primary aphakia Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital primary aphakia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital bilateral hip dislocation Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital bilateral hip dislocation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital muscular torticollis Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital muscular torticollis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital lactic acidosis Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital lactic acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital corneal dystrophy Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital corneal dystrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital localized absence of skin Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital localized absence of skin phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
numerous congenital melanocytic nevi Gene SetFrom HPO Gene-Disease Associations genes associated with the numerous congenital melanocytic nevi phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital abnormal hair pattern Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital abnormal hair pattern phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital hepatic fibrosis Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital hepatic fibrosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital laryngeal stridor Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital laryngeal stridor phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital malformation of the great arteries Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital malformation of the great arteries phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital contracture Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital contracture phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital palmoplantar keratosis Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital palmoplantar keratosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital myopia Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital myopia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital sensorineural hearing impairment Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital sensorineural hearing impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital blindness Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital blindness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital pseudoarthrosis of the clavicle Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital pseudoarthrosis of the clavicle phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital hypothyroidism Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital hypothyroidism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital fibrosis of extraocular muscles Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital fibrosis of extraocular muscles phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital kyphoscoliosis Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital kyphoscoliosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital hypertrophy of left ventricle Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital hypertrophy of left ventricle phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital goiter Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital goiter phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
nonprogressive congenital retinal dystrophy Gene SetFrom HPO Gene-Disease Associations genes associated with the nonprogressive congenital retinal dystrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital adrenal hyperplasia Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital adrenal hyperplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital macroorchidism Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital macroorchidism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital stationary night blindness Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital stationary night blindness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital nephrotic syndrome Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital nephrotic syndrome phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital hypertrophy of retinal pigment epithelium Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital hypertrophy of retinal pigment epithelium phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital malformation of the right heart Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital malformation of the right heart phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital posterior urethral valve Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital posterior urethral valve phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital nonbullous ichthyosiform erythroderma Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital nonbullous ichthyosiform erythroderma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital malformation of the left heart Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital malformation of the left heart phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital cataract Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital cataract phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
primary congenital glaucoma Gene SetFrom HPO Gene-Disease Associations genes associated with the primary congenital glaucoma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital hemolytic anemia Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital hemolytic anemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital onychodystrophy Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital onychodystrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital ichthyosiform erythroderma Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital ichthyosiform erythroderma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital hip dislocation Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital hip dislocation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital foot contractures Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital foot contractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
late onset congenital glaucoma Gene SetFrom HPO Gene-Disease Associations genes associated with the late onset congenital glaucoma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital thrombocytopenia Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital thrombocytopenia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital septal defect Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital agranulocytosis Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital agranulocytosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital muscular dystrophy Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital muscular dystrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital finger flexion contractures Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital finger flexion contractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital giant melanocytic nevus Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital giant melanocytic nevus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital strabismus Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital strabismus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital hypoplastic anemia Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital hypoplastic anemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital glaucoma Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital glaucoma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital bullous ichthyosiform erythroderma Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital bullous ichthyosiform erythroderma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital symmetrical palmoplantar keratosis Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital symmetrical palmoplantar keratosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital, generalized hypertrichosis Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital, generalized hypertrichosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital diaphragmatic hernia Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital diaphragmatic hernia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital pyloric atresia Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital pyloric atresia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
congenital onset Gene SetFrom HPO Gene-Disease Associations genes associated with the congenital onset phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Congenital Hypothyroidism Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Congenital Hypothyroidism phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Congenital Hyperinsulinism Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Congenital Hyperinsulinism phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Congenital Abnormalities Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Congenital Abnormalities phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Anemia, Hemolytic, Congenital Nonspherocytic Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Anemia, Hemolytic, Congenital Nonspherocytic phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Pain Insensitivity, Congenital Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Pain Insensitivity, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Anemia, Hemolytic, Congenital Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Anemia, Hemolytic, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Adrenal Hyperplasia, Congenital Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Adrenal Hyperplasia, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Ichthyosiform Erythroderma, Congenital Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Ichthyosiform Erythroderma, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Heart Defects, Congenital Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Heart Defects, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Congenital Disorders of Glycosylation Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Congenital Disorders of Glycosylation phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Upper Extremity Deformities, Congenital Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Upper Extremity Deformities, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Myopathies, Structural, Congenital Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Myopathies, Structural, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Leber Congenital Amaurosis Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Leber Congenital Amaurosis phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Lower Extremity Deformities, Congenital Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Lower Extremity Deformities, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Hand Deformities, Congenital Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Hand Deformities, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Limb Deformities, Congenital Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Limb Deformities, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Foot Deformities, Congenital Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Foot Deformities, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Hip Dislocation, Congenital Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Hip Dislocation, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
dyserythropoietic anemia, congenital, type iii Gene SetFrom OMIM Gene-Disease Associations genes associated with the dyserythropoietic anemia, congenital, type iii phenotype from the curated OMIM Gene-Disease Associations dataset. |
myasthenia, congenital, with tubular aggregates 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myasthenia, congenital, with tubular aggregates 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
?myosclerosis, congenital Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?myosclerosis, congenital phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type ih Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type ih phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type ii Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type ii phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type ij Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type ij phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type ik Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type ik phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type il Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type il phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type im Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type im phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type ia Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type ia phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type ib Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type ib phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type ic Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type ic phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type id Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type id phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type ie Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type ie phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type if Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type if phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type ig Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type ig phenotype from the curated OMIM Gene-Disease Associations dataset. |
?ptosis, congenital Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?ptosis, congenital phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type iq Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type iq phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type it Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type it phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type iu Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type iu phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type iv Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type iv phenotype from the curated OMIM Gene-Disease Associations dataset. |
diabetes mellitus, neonatal, with congenital hypothyroidism Gene SetFrom OMIM Gene-Disease Associations genes associated with the diabetes mellitus, neonatal, with congenital hypothyroidism phenotype from the curated OMIM Gene-Disease Associations dataset. |
ptosis, hereditary congenital, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ptosis, hereditary congenital, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
aural atresia, congenital Gene SetFrom OMIM Gene-Disease Associations genes associated with the aural atresia, congenital phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, congenital, megaconial type Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, congenital, megaconial type phenotype from the curated OMIM Gene-Disease Associations dataset. |
night blindness, congenital stationary, autosomal dominant 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the night blindness, congenital stationary, autosomal dominant 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
night blindness, congenital stationary, autosomal dominant 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the night blindness, congenital stationary, autosomal dominant 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
diarrhea 4, malabsorptive, congenital Gene SetFrom OMIM Gene-Disease Associations genes associated with the diarrhea 4, malabsorptive, congenital phenotype from the curated OMIM Gene-Disease Associations dataset. |
t-cell immunodeficiency, congenital alopecia, and nail dystrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the t-cell immunodeficiency, congenital alopecia, and nail dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
porphyria, congenital erythropoietic Gene SetFrom OMIM Gene-Disease Associations genes associated with the porphyria, congenital erythropoietic phenotype from the curated OMIM Gene-Disease Associations dataset. |
dyserythropoietic anemia, congenital, type ia Gene SetFrom OMIM Gene-Disease Associations genes associated with the dyserythropoietic anemia, congenital, type ia phenotype from the curated OMIM Gene-Disease Associations dataset. |
dyserythropoietic anemia, congenital, type ib Gene SetFrom OMIM Gene-Disease Associations genes associated with the dyserythropoietic anemia, congenital, type ib phenotype from the curated OMIM Gene-Disease Associations dataset. |
rett syndrome, congenital variant Gene SetFrom OMIM Gene-Disease Associations genes associated with the rett syndrome, congenital variant phenotype from the curated OMIM Gene-Disease Associations dataset. |
dyserythropoietic anemia, congenital, type ii Gene SetFrom OMIM Gene-Disease Associations genes associated with the dyserythropoietic anemia, congenital, type ii phenotype from the curated OMIM Gene-Disease Associations dataset. |
central hypoventilation syndrome, congenital, with or without hirschsprung disease Gene SetFrom OMIM Gene-Disease Associations genes associated with the central hypoventilation syndrome, congenital, with or without hirschsprung disease phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcoria, congenital Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcoria, congenital phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypofibrinogenemia, congenital Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypofibrinogenemia, congenital phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital bilateral absence of vas deferens Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital bilateral absence of vas deferens phenotype from the curated OMIM Gene-Disease Associations dataset. |
corneal dystrophy, congenital stromal Gene SetFrom OMIM Gene-Disease Associations genes associated with the corneal dystrophy, congenital stromal phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay phenotype from the curated OMIM Gene-Disease Associations dataset. |
lethal congenital contracture syndrome 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the lethal congenital contracture syndrome 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
lethal congenital contracture syndrome 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the lethal congenital contracture syndrome 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
lethal congenital contracture syndrome 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the lethal congenital contracture syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
neuropathy, congenital hypomyelinating, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the neuropathy, congenital hypomyelinating, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
insensitivity to pain, congenital, with anhidrosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the insensitivity to pain, congenital, with anhidrosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, congenital, due to partial lama2 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, congenital, due to partial lama2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
?congenital disorder of glycosylation, type iw Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?congenital disorder of glycosylation, type iw phenotype from the curated OMIM Gene-Disease Associations dataset. |
?congenital disorder of glycosylation, type ix Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?congenital disorder of glycosylation, type ix phenotype from the curated OMIM Gene-Disease Associations dataset. |
?congenital disorder of glycosylation, type iy Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?congenital disorder of glycosylation, type iy phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital 1, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital 1, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypothyroidism, congenital, nongoitrous, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypothyroidism, congenital, nongoitrous, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypothyroidism, congenital, nongoitrous, 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypothyroidism, congenital, nongoitrous, 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myasthenic syndrome, fast-channel congenital Gene SetFrom OMIM Gene-Disease Associations genes associated with the myasthenic syndrome, fast-channel congenital phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypodysfibrinogenemia, congenital Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypodysfibrinogenemia, congenital phenotype from the curated OMIM Gene-Disease Associations dataset. |
?congenital disorder of glycosylation, type ir Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?congenital disorder of glycosylation, type ir phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type b, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type b, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myasthenic syndrome, slow-channel congenital Gene SetFrom OMIM Gene-Disease Associations genes associated with the myasthenic syndrome, slow-channel congenital phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 11 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 11 phenotype from the curated OMIM Gene-Disease Associations dataset. |
night blindness, congenital stationary (complete), 1f, autosomal recessive Gene SetFrom 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. |
hernia, congenital diaphragmatic 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hernia, congenital diaphragmatic 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hernia, congenital diaphragmatic 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hernia, congenital diaphragmatic 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
afibrinogenemia, congenital Gene SetFrom OMIM Gene-Disease Associations genes associated with the afibrinogenemia, congenital phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type in Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type in phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type io Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type io phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type ip Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type ip phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type is Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type is phenotype from the curated OMIM Gene-Disease Associations dataset. |
{congenital anomalies of kidney and urinary tract, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {congenital anomalies of kidney and urinary tract, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital 3, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital 3, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, congenital, due to itga7 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, congenital, due to itga7 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
glaucoma 3, primary congenital, d Gene SetFrom OMIM Gene-Disease Associations genes associated with the glaucoma 3, primary congenital, d phenotype from the curated OMIM Gene-Disease Associations dataset. |
glaucoma 3, primary congenital, c Gene SetFrom OMIM Gene-Disease Associations genes associated with the glaucoma 3, primary congenital, c phenotype from the curated OMIM Gene-Disease Associations dataset. |
erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper ige Gene SetFrom OMIM Gene-Disease Associations genes associated with the erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper ige phenotype from the curated OMIM Gene-Disease Associations dataset. |
dysfibrinogenemia, congenital Gene SetFrom OMIM Gene-Disease Associations genes associated with the dysfibrinogenemia, congenital phenotype from the curated OMIM Gene-Disease Associations dataset. |
?testicular anomalies with or without congenital heart disease Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?testicular anomalies with or without congenital heart disease phenotype from the curated OMIM Gene-Disease Associations dataset. |
glycogen storage disease of heart, lethal congenital Gene SetFrom OMIM Gene-Disease Associations genes associated with the glycogen storage disease of heart, lethal congenital phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, congenital, merosin-positive Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, congenital, merosin-positive phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital heart defects, nonsyndromic, 1, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital heart defects, nonsyndromic, 1, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, actin, congenital, with cores Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, actin, congenital, with cores phenotype from the curated OMIM Gene-Disease Associations dataset. |
capillary malformations, congenital, 1, somatic, mosaic Gene SetFrom OMIM Gene-Disease Associations genes associated with the capillary malformations, congenital, 1, somatic, mosaic phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital heart defects, multiple types, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital heart defects, multiple types, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital heart defects, multiple types, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital heart defects, multiple types, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism Gene SetFrom OMIM Gene-Disease Associations genes associated with the adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism phenotype from the curated OMIM Gene-Disease Associations dataset. |
diarrhea 1, secretory chloride, congenital Gene SetFrom OMIM Gene-Disease Associations genes associated with the diarrhea 1, secretory chloride, congenital phenotype from the curated OMIM Gene-Disease Associations dataset. |
asplenia, isolated congenital Gene SetFrom OMIM Gene-Disease Associations genes associated with the asplenia, isolated congenital phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital short bowel syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital short bowel syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypotrichosis, congenital, with juvenile macular dystrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypotrichosis, congenital, with juvenile macular dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
leber congenital amaurosis 10 Gene SetFrom OMIM Gene-Disease Associations genes associated with the leber congenital amaurosis 10 phenotype from the curated OMIM Gene-Disease Associations dataset. |
leber congenital amaurosis 11 Gene SetFrom OMIM Gene-Disease Associations genes associated with the leber congenital amaurosis 11 phenotype from the curated OMIM Gene-Disease Associations dataset. |
leber congenital amaurosis 12 Gene SetFrom OMIM Gene-Disease Associations genes associated with the leber congenital amaurosis 12 phenotype from the curated OMIM Gene-Disease Associations dataset. |
leber congenital amaurosis 13 Gene SetFrom OMIM Gene-Disease Associations genes associated with the leber congenital amaurosis 13 phenotype from the curated OMIM Gene-Disease Associations dataset. |
leber congenital amaurosis 14 Gene SetFrom OMIM Gene-Disease Associations genes associated with the leber congenital amaurosis 14 phenotype from the curated OMIM Gene-Disease Associations dataset. |
leber congenital amaurosis 15 Gene SetFrom OMIM Gene-Disease Associations genes associated with the leber congenital amaurosis 15 phenotype from the curated OMIM Gene-Disease Associations dataset. |
leber congenital amaurosis 16 Gene SetFrom OMIM Gene-Disease Associations genes associated with the leber congenital amaurosis 16 phenotype from the curated OMIM Gene-Disease Associations dataset. |
leber congenital amaurosis 17 Gene SetFrom OMIM Gene-Disease Associations genes associated with the leber congenital amaurosis 17 phenotype from the curated OMIM Gene-Disease Associations dataset. |
leber congenital amaurosis 18 Gene SetFrom OMIM Gene-Disease Associations genes associated with the leber congenital amaurosis 18 phenotype from the curated OMIM Gene-Disease Associations dataset. |
aphakia, congenital primary Gene SetFrom OMIM Gene-Disease Associations genes associated with the aphakia, congenital primary phenotype from the curated OMIM Gene-Disease Associations dataset. |
ullrich congenital muscular dystrophy Gene SetFrom OMIM Gene-Disease Associations genes associated with the ullrich congenital muscular dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
night blindness, congenital stationary (complete), 1b, autosomal recessive Gene SetFrom 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. |
night blindness, congenital stationary (complete), 1c, autosomal recessive Gene SetFrom 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. |
fibrosis of extraocular muscles, congenital, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the fibrosis of extraocular muscles, congenital, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, congenital, with fiber-type disproportion, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, congenital, with fiber-type disproportion, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
night blindness, congenital stationary, autosomal dominant 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the night blindness, congenital stationary, autosomal dominant 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?lipodystrophy, congenital generalized, type 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?lipodystrophy, congenital generalized, type 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, congenital with inner ear agenesis, microtia, and microdontia Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, congenital with inner ear agenesis, microtia, and microdontia phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypothyroidism, congenital nongoitrous, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypothyroidism, congenital nongoitrous, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?myopathy, congenital, compton-north Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?myopathy, congenital, compton-north phenotype from the curated OMIM Gene-Disease Associations dataset. |
night blindness, congenital stationary (complete), 1a, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the night blindness, congenital stationary (complete), 1a, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
retinal nonattachment, nonsyndromic congenital Gene SetFrom OMIM Gene-Disease Associations genes associated with the retinal nonattachment, nonsyndromic congenital phenotype from the curated OMIM Gene-Disease Associations dataset. |
ichthyosis, congenital, autosomal recessive 4a Gene SetFrom OMIM Gene-Disease Associations genes associated with the ichthyosis, congenital, autosomal recessive 4a phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital, 6, autosomal recessive Gene SetFrom 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 SetFrom 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. |
facial paresis, hereditary congenital, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the facial paresis, hereditary congenital, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital myopathy with excess of muscle spindles Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital myopathy with excess of muscle spindles phenotype from the curated OMIM Gene-Disease Associations dataset. |
interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital Gene SetFrom OMIM Gene-Disease Associations genes associated with the interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital phenotype from the curated OMIM Gene-Disease Associations dataset. |
insensitivity to pain, congenital Gene SetFrom OMIM Gene-Disease Associations genes associated with the insensitivity to pain, congenital phenotype from the curated OMIM Gene-Disease Associations dataset. |
[lpa deficiency, congenital] Gene SetFrom OMIM Gene-Disease Associations genes associated with the [lpa deficiency, congenital] phenotype from the curated OMIM Gene-Disease Associations dataset. |
lipodystrophy, congenital generalized, type 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the lipodystrophy, congenital generalized, type 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
left ventricular noncompaction 1, with or without congenital heart defects Gene SetFrom OMIM Gene-Disease Associations genes associated with the left ventricular noncompaction 1, with or without congenital heart defects phenotype from the curated OMIM Gene-Disease Associations dataset. |
nail disorder, nonsyndromic congenital, 3, (leukonychia) Gene SetFrom OMIM Gene-Disease Associations genes associated with the nail disorder, nonsyndromic congenital, 3, (leukonychia) phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, congenital, with fiber-type disproportion 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, congenital, with fiber-type disproportion 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital cataracts, hearing loss, and neurodegeneration Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital cataracts, hearing loss, and neurodegeneration phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital cataracts, facial dysmorphism, and neuropathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital cataracts, facial dysmorphism, and neuropathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
myasthenic syndrome, congenital, with pre- and postsynaptic defects Gene SetFrom OMIM Gene-Disease Associations genes associated with the myasthenic syndrome, congenital, with pre- and postsynaptic defects phenotype from the curated OMIM Gene-Disease Associations dataset. |
clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
central hypoventilation syndrome, congenital Gene SetFrom OMIM Gene-Disease Associations genes associated with the central hypoventilation syndrome, congenital phenotype from the curated OMIM Gene-Disease Associations dataset. |
fibrosis of extraocular muscles, congenital, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the fibrosis of extraocular muscles, congenital, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital, 5, autosomal recessive Gene SetFrom 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 SetFrom 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. |
hypertrichosis, congenital generalized Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypertrichosis, congenital generalized phenotype from the curated OMIM Gene-Disease Associations dataset. |
lactase deficiency, congenital Gene SetFrom OMIM Gene-Disease Associations genes associated with the lactase deficiency, congenital phenotype from the curated OMIM Gene-Disease Associations dataset. |
fibrosis of extraocular muscles, congenital, 3b Gene SetFrom OMIM Gene-Disease Associations genes associated with the fibrosis of extraocular muscles, congenital, 3b phenotype from the curated OMIM Gene-Disease Associations dataset. |
fibrosis of extraocular muscles, congenital, 3a Gene SetFrom OMIM Gene-Disease Associations genes associated with the fibrosis of extraocular muscles, congenital, 3a phenotype from the curated OMIM Gene-Disease Associations dataset. |
bile acid synthesis defect, congenital, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the bile acid synthesis defect, congenital, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
bile acid synthesis defect, congenital, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the bile acid synthesis defect, congenital, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
bile acid synthesis defect, congenital, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the bile acid synthesis defect, congenital, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
bile acid synthesis defect, congenital, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the bile acid synthesis defect, congenital, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
digital clubbing, isolated congenital Gene SetFrom OMIM Gene-Disease Associations genes associated with the digital clubbing, isolated congenital phenotype from the curated OMIM Gene-Disease Associations dataset. |
myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, congenital Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, congenital phenotype from the curated OMIM Gene-Disease Associations dataset. |
diarrhea 3, secretory sodium, congenital, syndromic Gene SetFrom OMIM Gene-Disease Associations genes associated with the diarrhea 3, secretory sodium, congenital, syndromic phenotype from the curated OMIM Gene-Disease Associations dataset. |
nail disorder, nonsyndromic congenital, 10, (claw-shaped nails) Gene SetFrom OMIM Gene-Disease Associations genes associated with the nail disorder, nonsyndromic congenital, 10, (claw-shaped nails) phenotype from the curated OMIM Gene-Disease Associations dataset. |
?preauricular fistulae, congenital Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?preauricular fistulae, congenital phenotype from the curated OMIM Gene-Disease Associations dataset. |
?multiple congenital anomalies-hypotonia-seizures syndrome 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?multiple congenital anomalies-hypotonia-seizures syndrome 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, congenital heart defects, and posterior embryotoxon Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, congenital heart defects, and posterior embryotoxon phenotype from the curated OMIM Gene-Disease Associations dataset. |
neutropenia, severe congenital 4, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital 4, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 8 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 8 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypoaldosteronism, congenital, due to cmo i deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypoaldosteronism, congenital, due to cmo i deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type iil Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type iil phenotype from the curated OMIM Gene-Disease Associations dataset. |
ptosis, hereditary congenital 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ptosis, hereditary congenital 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ichthyosis, congenital, autosomal recessive 5 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom OMIM Gene-Disease Associations genes associated with the ichthyosis, congenital, autosomal recessive 9 phenotype from the curated OMIM Gene-Disease Associations dataset. |
adrenal insufficiency, congenital, with 46xy sex reversal, partial or complete Gene SetFrom OMIM Gene-Disease Associations genes associated with the adrenal insufficiency, congenital, with 46xy sex reversal, partial or complete phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
night blindness, congenital stationary (complete), 1d, autosomal recessive Gene SetFrom 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. |
multiple congenital anomalies-hypotonia-seizures syndrome 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the multiple congenital anomalies-hypotonia-seizures syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
multiple congenital anomalies-hypotonia-seizures syndrome 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the multiple congenital anomalies-hypotonia-seizures syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 phenotype from the curated OMIM Gene-Disease Associations dataset. |
night blindness, congenital stationary (incomplete), 2a, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the night blindness, congenital stationary (incomplete), 2a, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
nail disorder, nonsyndromic congenital, 9 Gene SetFrom OMIM Gene-Disease Associations genes associated with the nail disorder, nonsyndromic congenital, 9 phenotype from the curated OMIM Gene-Disease Associations dataset. |
aplasia cutis congenita, reticulolinear, with mmicrocephaly, facial dysmorphism and other congenital anomalies Gene SetFrom OMIM Gene-Disease Associations genes associated with the aplasia cutis congenita, reticulolinear, with mmicrocephaly, facial dysmorphism and other congenital anomalies phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypothyroidism, congenital, nongoitrous Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypothyroidism, congenital, nongoitrous phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type iij Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type iij phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type iik Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type iik phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type iih Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type iih phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type iii Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type iii phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type iim Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type iim phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type iib Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type iib phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type iic Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type iic phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type iia Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type iia phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type iif Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type iif phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type iig Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type iig phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type iid Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type iid phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital disorder of glycosylation, type iie Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital disorder of glycosylation, type iie phenotype from the curated OMIM Gene-Disease Associations dataset. |
glaucoma 3a, primary open angle, congenital, juvenile, or adult onset Gene SetFrom OMIM Gene-Disease Associations genes associated with the glaucoma 3a, primary open angle, congenital, juvenile, or adult onset phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 phenotype from the curated OMIM Gene-Disease Associations dataset. |
glutamine deficiency, congenital Gene SetFrom OMIM Gene-Disease Associations genes associated with the glutamine deficiency, congenital phenotype from the curated OMIM Gene-Disease Associations dataset. |
?cataract, congenital Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?cataract, congenital phenotype from the curated OMIM Gene-Disease Associations dataset. |
anosmia, isolated congenital Gene SetFrom OMIM Gene-Disease Associations genes associated with the anosmia, isolated congenital phenotype from the curated OMIM Gene-Disease Associations dataset. |
diarrhea 5, with tufting enteropathy, congenital Gene SetFrom OMIM Gene-Disease Associations genes associated with the diarrhea 5, with tufting enteropathy, congenital phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy, congenital, 1b Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy, congenital, 1b phenotype from the curated OMIM Gene-Disease Associations dataset. |
hypothryoidism, congenital, nongoitrous 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hypothryoidism, congenital, nongoitrous 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
thrombocytopenia, congenital amegakaryocytic Gene SetFrom OMIM Gene-Disease Associations genes associated with the thrombocytopenia, congenital amegakaryocytic phenotype from the curated OMIM Gene-Disease Associations dataset. |
hydrocephalus with congenital idiopathic intestinal pseudoobstruction Gene SetFrom OMIM Gene-Disease Associations genes associated with the hydrocephalus with congenital idiopathic intestinal pseudoobstruction phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital heart defects, nonsyndromic, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital heart defects, nonsyndromic, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
myopathy, congenital, with fiber-type disproportion Gene SetFrom OMIM Gene-Disease Associations genes associated with the myopathy, congenital, with fiber-type disproportion phenotype from the curated OMIM Gene-Disease Associations dataset. |
dyserythropoietic anemia, congenital, type iv Gene SetFrom OMIM Gene-Disease Associations genes associated with the dyserythropoietic anemia, congenital, type iv phenotype from the curated OMIM Gene-Disease Associations dataset. |