Name

Neutropenia, Severe Congenital, Autosomal Dominant 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Dominant 2 from the curated CTD Gene-Disease Associations dataset.

Severe congenital neutropenia autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

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

Severe congenital neutropenia 2, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia 2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neutropenia, Severe Congenital, Autosomal Dominant 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Dominant 1 from the curated CTD Gene-Disease Associations dataset.

neutropenia, severe congenital 1, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutropenia, severe congenital 1, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

neutropenia, severe congenital 2, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutropenia, severe congenital 2, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

Severe congenital neutropenia 3, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia 3, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia 6, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia 6, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia 4, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia 4, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neutropenia, Severe Congenital, Autosomal Recessive 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Recessive 3 from the curated CTD Gene-Disease Associations dataset.

Neutropenia, Severe Congenital, Autosomal Recessive 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Recessive 4 from the curated CTD Gene-Disease Associations dataset.

neutropenia, severe congenital 3, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutropenia, severe congenital 3, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

neutropenia, severe congenital, 6, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutropenia, severe congenital, 6, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

neutropenia, severe congenital, 5, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutropenia, severe congenital, 5, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

neutropenia, severe congenital 4, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutropenia, severe congenital 4, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

Severe congenital neutropenia Gene Set

From ClinVar Gene-Phenotype Associations

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

Severe congenital neutropenia X-linked Gene Set

From ClinVar Gene-Phenotype Associations

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

Neutropenia, Severe Congenital, X-Linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neutropenia, Severe Congenital, X-Linked from the curated CTD Gene-Disease Associations dataset.

severe congenital neutropenia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

severe congenital neutropenia Gene Set

From DISEASES Text-mining Gene-Disease Assocation 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.

neutropenia, severe congenital, x-linked Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutropenia, severe congenital, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.

DEAFNESS, AUTOSOMAL DOMINANT 22;DFNA22 DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL DOMINANT 22;DFNA22 DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, from the curated CTD Gene-Disease Associations dataset.

Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy from the curated CTD Gene-Disease Associations dataset.

severe chronic neutropenia Gene Set

From GAD Gene-Disease Associations

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

Charcot-Marie-Tooth disease, dominant intermediate b, with neutropenia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Charcot-Marie-Tooth disease, dominant intermediate b, with neutropenia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital myotonia, autosomal dominant form Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital myotonia, autosomal dominant form phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital stationary night blindness, autosomal dominant 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital stationary night blindness, autosomal dominant 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital stationary night blindness, autosomal dominant 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital stationary night blindness, autosomal dominant 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neuropathy, congenital hypomyelinating, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neuropathy, congenital hypomyelinating, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Night Blindness, Congenital Stationary, Autosomal Dominant 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Night Blindness, Congenital Stationary, Autosomal Dominant 3 from the curated CTD Gene-Disease Associations dataset.

Nystagmus 2, congenital, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nystagmus 2, congenital, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

Nystagmus 4, congenital, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nystagmus 4, congenital, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

Nystagmus 3, congenital, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nystagmus 3, congenital, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

Night Blindness, Congenital Stationary, Autosomal Dominant 2 Gene Set

From 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.

Night Blindness, Congenital Stationary, Autosomal Dominant 1 Gene Set

From 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.

night blindness, congenital stationary, autosomal dominant 3 Gene Set

From 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 Set

From OMIM Gene-Disease Associations

genes associated with the night blindness, congenital stationary, autosomal dominant 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

nystagmus 2, congenital, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the nystagmus 2, congenital, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

night blindness, congenital stationary, autosomal dominant 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the night blindness, congenital stationary, autosomal dominant 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

nystagmus 7, congenital, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the nystagmus 7, congenital, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

nystagmus 3, congenital, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the nystagmus 3, congenital, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

nystagmus 4, congenital, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the nystagmus 4, congenital, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

congenital neutropenia Gene Set

From ClinVar Gene-Phenotype Associations

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

congenital neutropenia Gene Set

From 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.

congenital neutropenia Gene Set

From 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.

Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe autosomal recessive muscular dystrophy of childhood - North African type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe autosomal recessive muscular dystrophy of childhood - North African type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative from the curated CTD Gene-Disease Associations dataset.

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive from the curated CTD Gene-Disease Associations dataset.

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive from the curated CTD Gene-Disease Associations dataset.

Myopia 21, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopia 21, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopia 24, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopia 24, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal dominant 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal dominant 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal dominant 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal dominant 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Giant axonal neuropathy, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Giant axonal neuropathy, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract, autosomal dominant, multiple types, with microcornea Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract, autosomal dominant, multiple types, with microcornea phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Craniodiaphyseal dysplasia, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniodiaphyseal dysplasia, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nemaline myopathy 3, autosomal dominant or recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nemaline myopathy 3, autosomal dominant or recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 30 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 30 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bernard-Soulier syndrome, type A2, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bernard-Soulier syndrome, type A2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 24 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 24 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 28 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 28 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal dominant torsion dystonia 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal dominant torsion dystonia 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 23 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 23 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 27 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 27 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 29 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 29 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 4, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 4, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coronary artery disease, autosomal dominant 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coronary artery disease, autosomal dominant 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal dominant isolated somatotropin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal dominant isolated somatotropin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sick sinus syndrome 2, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sick sinus syndrome 2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal dominant nocturnal frontal lobe epilepsy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal dominant nocturnal frontal lobe epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ceroid lipofuscinosis neuronal 4B autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ceroid lipofuscinosis neuronal 4B autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, without vestibular involvement, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, without vestibular involvement, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thyroid hormone resistance, generalized, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thyroid hormone resistance, generalized, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypocalcemia, autosomal dominant 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypocalcemia, autosomal dominant 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypocalcemia, autosomal dominant 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypocalcemia, autosomal dominant 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypocalcemia, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypocalcemia, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal tubular acidosis, distal, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal tubular acidosis, distal, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Rhegmatogenous retinal detachment, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rhegmatogenous retinal detachment, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Keratitis, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Keratitis, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Parkinson disease 8, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Parkinson disease 8, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ataxia, sensory, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ataxia, sensory, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Osteopetrosis autosomal dominant type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Osteopetrosis autosomal dominant type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 72, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 72, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Craniometaphyseal dysplasia, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniometaphyseal dysplasia, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypercarotenemia and vitamin a deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypercarotenemia and vitamin a deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 31, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 31, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Optic atrophy and cataract, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Optic atrophy and cataract, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal dominant 11 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal dominant 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal dominant CD11C+/CD1C+ dendritic cell deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal dominant CD11C+/CD1C+ dendritic cell deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal dominant 15 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal dominant 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal dominant 12 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal dominant 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal dominant 13 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal dominant 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal dominant nonsyndromic sensorineural 17 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal dominant nonsyndromic sensorineural 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dyskeratosis congenita, autosomal dominant, 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dyskeratosis congenita, autosomal dominant, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autoimmune polyglandular syndrome type 1, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autoimmune polyglandular syndrome type 1, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Methionine adenosyltransferase deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Methionine adenosyltransferase deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal dominant 2b Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal dominant 2b phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal dominant 20 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal dominant 20 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal dominant 22 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal dominant 22 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal dominant 25 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal dominant 25 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal dominant 28 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal dominant 28 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epilepsy, lateral temporal lobe, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epilepsy, lateral temporal lobe, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 33, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 33, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Klippel-Feil syndrome 1, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Klippel-Feil syndrome 1, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal dominant 3b Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal dominant 3b phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal dominant 3a Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal dominant 3a phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypocalcemia, autosomal dominant 1, with bartter syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypocalcemia, autosomal dominant 1, with bartter syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Emery-dreifuss muscular dystrophy 4, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Emery-dreifuss muscular dystrophy 4, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal dominant 4b Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal dominant 4b phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal dominant 48 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal dominant 48 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal dominant 41 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal dominant 41 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Slowed nerve conduction velocity, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Slowed nerve conduction velocity, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dyskeratosis congenita autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dyskeratosis congenita autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Amelogenesis imperfecta - hypoplastic autosomal dominant - local Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Amelogenesis imperfecta - hypoplastic autosomal dominant - local phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypercholesterolemia, autosomal dominant, type B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypercholesterolemia, autosomal dominant, type B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pseudohypoaldosteronism type 1 autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pseudohypoaldosteronism type 1 autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal dominant 56 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal dominant 56 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopia 22, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopia 22, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 19 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 19 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypercholesterolemia, autosomal dominant, 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypercholesterolemia, autosomal dominant, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dejerine-Sottas syndrome, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dejerine-Sottas syndrome, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 13 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Wolfram-like syndrome, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Wolfram-like syndrome, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Emery-Dreifuss muscular dystrophy 7, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Emery-Dreifuss muscular dystrophy 7, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal dominant 64 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal dominant 64 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 42, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 42, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal dominant hypophosphatemic rickets Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal dominant hypophosphatemic rickets phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 18 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ectopia lentis, isolated, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ectopia lentis, isolated, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 12 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 15 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 17 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1 from the curated CTD Gene-Disease Associations dataset.

Spastic Paraplegia 36, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic Paraplegia 36, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Thyroid Hormone Resistance, Generalized, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thyroid Hormone Resistance, Generalized, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 44 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 44 from the curated CTD Gene-Disease Associations dataset.

WOOLLY HAIR, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease WOOLLY HAIR, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 47 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 47 from the curated CTD Gene-Disease Associations dataset.

Filaminopathy, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Filaminopathy, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 25 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 25 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 15 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 15 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 10 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 10 from the curated CTD Gene-Disease Associations dataset.

DEAFNESS, AUTOSOMAL DOMINANT 27 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL DOMINANT 27 from the curated CTD Gene-Disease Associations dataset.

Hypophosphatemic Rickets, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypophosphatemic Rickets, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 from the curated CTD Gene-Disease Associations dataset.

Sick Sinus Syndrome 2, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Sick Sinus Syndrome 2, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Coronary Artery Disease, Autosomal Dominant 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Coronary Artery Disease, Autosomal Dominant 2 from the curated CTD Gene-Disease Associations dataset.

Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 4, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic paraplegia 4, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

Hypercholesterolemia, Autosomal Dominant, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypercholesterolemia, Autosomal Dominant, 3 from the curated CTD Gene-Disease Associations dataset.

PARKINSON DISEASE 8, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PARKINSON DISEASE 8, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

Spastic Paraplegia 31, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic Paraplegia 31, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

DEAFNESS, AUTOSOMAL DOMINANT 4A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL DOMINANT 4A from the curated CTD Gene-Disease Associations dataset.

Spastic Paraplegia 42, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic Paraplegia 42, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Spastic Paraplegia 33, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic Paraplegia 33, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Slowed Nerve Conduction Velocity, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Slowed Nerve Conduction Velocity, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 10, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic paraplegia 10, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Autosomal Dominant 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Autosomal Dominant 3 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Autosomal Dominant 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Autosomal Dominant 5 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Autosomal Dominant 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Autosomal Dominant 4 from the curated CTD Gene-Disease Associations dataset.

Parkinson Disease 3, Autosomal Dominant Lewy Body Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Parkinson Disease 3, Autosomal Dominant Lewy Body from the curated CTD Gene-Disease Associations dataset.

Polycystic Kidney, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Polycystic Kidney, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

PARKINSON DISEASE 5, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PARKINSON DISEASE 5, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 53 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 53 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 49 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 49 from the curated CTD Gene-Disease Associations dataset.

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4 from the curated CTD Gene-Disease Associations dataset.

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 from the curated CTD Gene-Disease Associations dataset.

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 from the curated CTD Gene-Disease Associations dataset.

Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 9, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic paraplegia 9, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

Spastic Paraplegia 37, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic Paraplegia 37, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Osteopetrosis autosomal dominant type 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Osteopetrosis autosomal dominant type 1 from the curated CTD Gene-Disease Associations dataset.

Craniometaphyseal Dysplasia, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Craniometaphyseal Dysplasia, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Familial Mediterranean Fever, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Familial Mediterranean Fever, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 3, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic paraplegia 3, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

Cataract, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cataract, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Spastic Paraplegia 38, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic Paraplegia 38, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 48 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 48 from the curated CTD Gene-Disease Associations dataset.

Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 29, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic paraplegia 29, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

Striatal Degeneration, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Striatal Degeneration, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 23 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 23 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 28 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 28 from the curated CTD Gene-Disease Associations dataset.

Optic atrophy and cataract, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Optic atrophy and cataract, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 43 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 43 from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 6, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic paraplegia 6, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 8, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic paraplegia 8, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

Sensorimotor neuropathy with ataxia, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Sensorimotor neuropathy with ataxia, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

Dyskeratosis Congenita, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Dyskeratosis Congenita, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 6 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 5 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 1 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 9 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 9 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 2B Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 2B from the curated CTD Gene-Disease Associations dataset.

Deafness, autosomal dominant nonsyndromic sensorineural 17 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, autosomal dominant nonsyndromic sensorineural 17 from the curated CTD Gene-Disease Associations dataset.

BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

PARKINSON DISEASE 1, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PARKINSON DISEASE 1, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 21 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 21 from the curated CTD Gene-Disease Associations dataset.

DEAFNESS, AUTOSOMAL DOMINANT 50 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL DOMINANT 50 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 7 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 7 from the curated CTD Gene-Disease Associations dataset.

Auditory Neuropathy, Autosomal Dominant, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Auditory Neuropathy, Autosomal Dominant, 1 from the curated CTD Gene-Disease Associations dataset.

PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO from the curated CTD Gene-Disease Associations dataset.

Ataxia, Spastic, 1, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ataxia, Spastic, 1, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Cataract, Autosomal Dominant, Multiple Types 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cataract, Autosomal Dominant, Multiple Types 1 from the curated CTD Gene-Disease Associations dataset.

Laterality Defects, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Laterality Defects, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

MYOTONIA CONGENITA, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MYOTONIA CONGENITA, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 from the curated CTD Gene-Disease Associations dataset.

Periodic fever, familial, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Periodic fever, familial, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 59 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 59 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 52 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 52 from the curated CTD Gene-Disease Associations dataset.

Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

CUTIS LAXA, AUTOSOMAL DOMINANT 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CUTIS LAXA, AUTOSOMAL DOMINANT 1 from the curated CTD Gene-Disease Associations dataset.

Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 16 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 16 from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 13, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic paraplegia 13, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 11 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 11 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 12 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 12 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 13 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 13 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 18 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 18 from the curated CTD Gene-Disease Associations dataset.

ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

Inclusion Body Myopathy 3, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Inclusion Body Myopathy 3, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 20 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 20 from the curated CTD Gene-Disease Associations dataset.

Optic Atrophy, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Optic Atrophy, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 24 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 24 from the curated CTD Gene-Disease Associations dataset.

Parkinson Disease 4, Autosomal Dominant Lewy Body Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Parkinson Disease 4, Autosomal Dominant Lewy Body from the curated CTD Gene-Disease Associations dataset.

Coronary Artery Disease, Autosomal Dominant, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Coronary Artery Disease, Autosomal Dominant, 1 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 2A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 2A from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Autosomal Dominant 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Autosomal Dominant 1 from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 19, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic paraplegia 19, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

PARKINSON DISEASE 11, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PARKINSON DISEASE 11, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 36 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 36 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 3B Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 3B from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 3A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 3A from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 30 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 30 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 31 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Dominant 31 from the curated CTD Gene-Disease Associations dataset.

autosomal dominant disease Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease autosomal dominant disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

autosomal dominant disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

autosomal dominant nonsyndromic deafness Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease autosomal dominant nonsyndromic deafness in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

autosomal dominant microcephaly Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

chronic renal failure; kidney failure, chronic; polycystic kidney, autosomal dominant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic renal failure; kidney failure, chronic; polycystic kidney, autosomal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

autosomal dominant hearing loss Gene Set

From GAD Gene-Disease Associations

genes associated with the disease autosomal dominant hearing loss in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

kidney failure, chronic; polycystic kidney, autosomal dominant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease kidney failure, chronic; polycystic kidney, autosomal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic renal failure; hypertrophy, left ventricular; kidney failure, chronic; left ventricular hypertrophy; polycystic kidney, autosomal dominant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic renal failure; hypertrophy, left ventricular; kidney failure, chronic; left ventricular hypertrophy; polycystic kidney, autosomal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

autosomal dominant macular degeneration Gene Set

From GAD Gene-Disease Associations

genes associated with the disease autosomal dominant macular degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

glomerulonephritis, iga; iga glomerulonephritides; polycystic kidney, autosomal dominant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glomerulonephritis, iga; iga glomerulonephritides; polycystic kidney, autosomal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus; polycystic kidney, autosomal dominant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus; polycystic kidney, autosomal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic renal failure; hypertension; kidney failure, chronic; polycystic kidney, autosomal dominant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic renal failure; hypertension; kidney failure, chronic; polycystic kidney, autosomal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

autosomal-dominant retinitis pigmentosa Gene Set

From GAD Gene-Disease Associations

genes associated with the disease autosomal-dominant retinitis pigmentosa in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic renal failure; diabetes mellitus type ii; diabetes mellitus, type 2; glomerulonephritis; kidney failure, chronic; polycystic kidney, autosomal dominant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic renal failure; diabetes mellitus type ii; diabetes mellitus, type 2; glomerulonephritis; kidney failure, chronic; polycystic kidney, autosomal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cystic fibrosis; polycystic kidney, autosomal dominant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cystic fibrosis; polycystic kidney, autosomal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

autosomal dominant coral-like cataract Gene Set

From GAD Gene-Disease Associations

genes associated with the disease autosomal dominant coral-like cataract in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hypertension; polycystic kidney, autosomal dominant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hypertension; polycystic kidney, autosomal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

optic atrophy, autosomal dominant; optic atrophy, hereditary, leber Gene Set

From GAD Gene-Disease Associations

genes associated with the disease optic atrophy, autosomal dominant; optic atrophy, hereditary, leber in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycystic kidney, autosomal dominant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease polycystic kidney, autosomal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

autosomal dominant anhidrotic ectodermal dysplasia and t cell immunodeficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease autosomal dominant anhidrotic ectodermal dysplasia and t cell immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

optic atrophies, hereditary; optic atrophy, autosomal dominant; optic atrophy, hereditary, leber Gene Set

From GAD Gene-Disease Associations

genes associated with the disease optic atrophies, hereditary; optic atrophy, autosomal dominant; optic atrophy, hereditary, leber in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

White matter hyperintensity volume in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the White matter hyperintensity volume in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

autosomal dominant disease Gene Set

From GWASdb SNP-Disease Associations

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

autosomal dominant inheritance Gene Set

From HPO Gene-Disease Associations

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

autosomal dominant contiguous gene syndrome Gene Set

From HPO Gene-Disease Associations

genes associated with the autosomal dominant contiguous gene syndrome phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

sex-limited autosomal dominant Gene Set

From HPO Gene-Disease Associations

genes associated with the sex-limited autosomal dominant phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

autosomal dominant inheritance with maternal imprinting Gene Set

From HPO Gene-Disease Associations

genes associated with the autosomal dominant inheritance with maternal imprinting phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

autosomal dominant somatic cell mutation Gene Set

From HPO Gene-Disease Associations

genes associated with the autosomal dominant somatic cell mutation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Polycystic Kidney, Autosomal Dominant Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Polycystic Kidney, Autosomal Dominant phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Optic Atrophy, Autosomal Dominant Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Optic Atrophy, Autosomal Dominant phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

nemaline myopathy 6, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the nemaline myopathy 6, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 8, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 8, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 19 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 19 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 18 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 18 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 10 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 10 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 13 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 13 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 12 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 12 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 15 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 15 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 14 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 14 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 17 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 17 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 16 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 16 phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 13, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 13, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 12, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 12, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

dystonia 4, torsion, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the dystonia 4, torsion, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

macrothrombocytopenia, autosomal dominant, tubb1-related Gene Set

From OMIM Gene-Disease Associations

genes associated with the macrothrombocytopenia, autosomal dominant, tubb1-related phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 30 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 30 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 9 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 9 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 8 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 8 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 7 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 7 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

striatal degeneration, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the striatal degeneration, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

progressive external ophthalmoplegia, autosomal dominant, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the progressive external ophthalmoplegia, autosomal dominant, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

?spastic paraplegia 72, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?spastic paraplegia 72, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

hypocalcemia, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypocalcemia, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency 31a, mycobacteriosis, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency 31a, mycobacteriosis, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

{coronary artery disease, autosomal dominant, 2} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {coronary artery disease, autosomal dominant, 2} phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 29, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 29, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 22, with hypertrophic cardiomyopathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 22, with hypertrophic cardiomyopathy phenotype from the curated OMIM Gene-Disease Associations dataset.

retinal degeneration, late-onset, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the retinal degeneration, late-onset, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

{osteoporosis, early-onset, susceptibility to, autosomal dominant} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {osteoporosis, early-onset, susceptibility to, autosomal dominant} phenotype from the curated OMIM Gene-Disease Associations dataset.

emery-dreifuss muscular dystrophy 4, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the emery-dreifuss muscular dystrophy 4, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

woolly hair, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the woolly hair, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to protein s deficiency, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to protein s deficiency, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 47 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 47 phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 19, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 19, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

?spondylocostal dysostosis 5, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?spondylocostal dysostosis 5, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 33, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 33, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 42, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 42, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

hypoparathyroidism, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypoparathyroidism, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

?mental retardation, autosomal dominant 22 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?mental retardation, autosomal dominant 22 phenotype from the curated OMIM Gene-Disease Associations dataset.

hypocalcemia, autosomal dominant 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypocalcemia, autosomal dominant 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopia 24, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopia 24, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

nemaline myopathy 1, autosomal dominant or recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the nemaline myopathy 1, autosomal dominant or recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 37, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 37, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

candidiasis, familial, 6, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the candidiasis, familial, 6, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 15 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 15 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 16 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 16 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 10 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 10 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 11 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 11 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 13 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 13 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 18 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 18 phenotype from the curated OMIM Gene-Disease Associations dataset.

craniodiaphyseal dysplasia, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the craniodiaphyseal dysplasia, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

ehlers-danlos syndrome, autosomal dominant, hypermobility type Gene Set

From OMIM Gene-Disease Associations

genes associated with the ehlers-danlos syndrome, autosomal dominant, hypermobility type phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 8/12 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 8/12 phenotype from the curated OMIM Gene-Disease Associations dataset.

nemaline myopathy 4, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the nemaline myopathy 4, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 36 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 36 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 33 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 33 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 30 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 30 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 31 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 31 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 3b Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 3b phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 3a Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 3a phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 31 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 31 phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to protein c deficiency, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to protein c deficiency, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 64 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 64 phenotype from the curated OMIM Gene-Disease Associations dataset.

obesity, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the obesity, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

preauricular tag, isolated, autosomal dominant, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the preauricular tag, isolated, autosomal dominant, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 58 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 58 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 59 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 59 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 50 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 50 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 52 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 52 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 53 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 53 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 54 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 54 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 56 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 56 phenotype from the curated OMIM Gene-Disease Associations dataset.

cataract 37, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the cataract 37, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

robinow syndrome, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the robinow syndrome, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 38, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 38, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy phenotype from the curated OMIM Gene-Disease Associations dataset.

cataract 39, multiple types, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the cataract 39, multiple types, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

bleeding disorder, platelet-type, 16, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the bleeding disorder, platelet-type, 16, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

factor xi deficiency, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the factor xi deficiency, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

myopia 22, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopia 22, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

wolfram-like syndrome, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the wolfram-like syndrome, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

hyperekplexia, hereditary 1, autosomal dominant or recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperekplexia, hereditary 1, autosomal dominant or recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

leukodystrophy, adult-onset, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the leukodystrophy, adult-onset, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic ataxia 1, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic ataxia 1, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

osteopetrosis, autosomal dominant 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the osteopetrosis, autosomal dominant 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

osteopetrosis, autosomal dominant 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the osteopetrosis, autosomal dominant 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

corneal endothelial dystrophy 1, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the corneal endothelial dystrophy 1, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

retinitis pigmentosa 4, autosomal dominant or recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the retinitis pigmentosa 4, autosomal dominant or recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

klippel-feil syndrome 1, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the klippel-feil syndrome 1, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 9, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 9, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 6/14/38 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 6/14/38 phenotype from the curated OMIM Gene-Disease Associations dataset.

auditory neuropathy, autosomal dominant, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the auditory neuropathy, autosomal dominant, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

{dyskeratosis congenita, autosomal dominant 2} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {dyskeratosis congenita, autosomal dominant 2} phenotype from the curated OMIM Gene-Disease Associations dataset.

dyskeratosis congenita, autosomal dominant 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the dyskeratosis congenita, autosomal dominant 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

dyskeratosis congenita, autosomal dominant 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the dyskeratosis congenita, autosomal dominant 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

dyskeratosis congenita, autosomal dominant 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the dyskeratosis congenita, autosomal dominant 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

{coronary artery disease, autosomal dominant, 1} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {coronary artery disease, autosomal dominant, 1} phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 21 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 21 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 23 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 23 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 24 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 24 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 26 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 26 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant 29 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant 29 phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 6, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 6, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

radiation sensitivity/chromosome instability syndrome, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the radiation sensitivity/chromosome instability syndrome, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

klippel-feil syndrome 3, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the klippel-feil syndrome 3, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

alport syndrome, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the alport syndrome, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

hypophosphatemic rickets, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypophosphatemic rickets, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant, with peripheral neuropathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant, with peripheral neuropathy phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 10, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 10, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, neurosensory, without vestibular involvement, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, neurosensory, without vestibular involvement, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

pseudohypoaldosteronism type i, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the pseudohypoaldosteronism type i, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

?spastic paraplegia 41, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?spastic paraplegia 41, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

hypocalcemia, autosomal dominant, with bartter syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypocalcemia, autosomal dominant, with bartter syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency 31c, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency 31c, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

progressive external ophthalmoplegia, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the progressive external ophthalmoplegia, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 4, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 4, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

nemaline myopathy 3, autosomal dominant or recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the nemaline myopathy 3, autosomal dominant or recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

myopia 21, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopia 21, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

cutis laxa, autosomal dominant 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cutis laxa, autosomal dominant 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 36, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 36, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

ataxia, sensory, 1, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the ataxia, sensory, 1, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency 32a, mycobacteriosis, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency 32a, mycobacteriosis, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

?deafness, autosomal dominant 4b Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?deafness, autosomal dominant 4b phenotype from the curated OMIM Gene-Disease Associations dataset.

?mental retardation, autosomal dominant 11 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?mental retardation, autosomal dominant 11 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 36, with dentinogenesis Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 36, with dentinogenesis phenotype from the curated OMIM Gene-Disease Associations dataset.

emery-dreifuss muscular dystrophy 5, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the emery-dreifuss muscular dystrophy 5, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 2a Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 2a phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 2b Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 2b phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 21 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 21 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 23 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 23 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 22 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 22 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 25 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 25 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 24 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 24 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 27 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 27 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 28 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 28 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 17 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 17 phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 3a, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 3a, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 4a Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 4a phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 49 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 49 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 48 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 48 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 43 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 43 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 41 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 41 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 40 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 40 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 44 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 44 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 7 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 7 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 9 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 9 phenotype from the curated OMIM Gene-Disease Associations dataset.

candidiasis, familial, 1, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the candidiasis, familial, 1, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

hypercarotenemia and vitamin a deficiency, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypercarotenemia and vitamin a deficiency, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 20/26 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 20/26 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal dominant 65 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal dominant 65 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopia 20, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopia 20, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant, 27 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant, 27 phenotype from the curated OMIM Gene-Disease Associations dataset.

?giant axonal neuropathy 2, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?giant axonal neuropathy 2, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal dominant, 28 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal dominant, 28 phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 31, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 31, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

cerebellar ataxia, deafness, and narcolepsy, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the cerebellar ataxia, deafness, and narcolepsy, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

congenital heart defects; heart defects, congenital; syndrome Gene Set

From GAD Gene-Disease Associations

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

atrial septal defects; cardiomyopathy, dilated; congenital heart defects; dcm - dilated cardiomyopathy; heart defects, congenital; heart septal defects, atrial Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atrial septal defects; cardiomyopathy, dilated; congenital heart defects; dcm - dilated cardiomyopathy; heart defects, congenital; heart septal defects, atrial in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; folic acid deficiency; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; folic acid deficiency; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adrenal hyperplasia, congenital; congenital adrenal hyperplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adrenal hyperplasia, congenital; congenital adrenal hyperplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; heart defects, congenital; obesity Gene Set

From GAD Gene-Disease Associations

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

birth weight; congenital abnormalities; heart defects, congenital; postoperative complications; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease birth weight; congenital abnormalities; heart defects, congenital; postoperative complications; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; coronary disease; coronary heart disease; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

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

cleft lip; cleft palate; congenital heart defects; heart defects, congenital; hyperhomocysteinemia Gene Set

From GAD Gene-Disease Associations

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

adrenal hyperplasia, congenital; cardiovascular diseases; congenital adrenal hyperplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adrenal hyperplasia, congenital; cardiovascular diseases; congenital adrenal hyperplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

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

congenital heart defects; heart defects, congenital; ventricular outflow obstruction Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; heart defects, congenital; ventricular outflow obstruction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; heart defects, congenital; nervous system diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; heart defects, congenital; nervous system diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atrial septal defects; congenital heart defects; heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular; ventricular septal defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atrial septal defects; congenital heart defects; heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular; ventricular septal defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

genes associated with the disease body weight; congenital heart defects; growth disorders; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; down syndrome; heart defects, congenital; heart septal defects Gene Set

From GAD Gene-Disease Associations

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

congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; coloboma; congenital heart defects; disease models, animal; facial paralysis; heart defects, congenital; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; heart defects, congenital; heart septal defects; tetralogy of fallot Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; heart defects, congenital; heart septal defects; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

aortic coarctation; aortic valve stenosis; congenital heart defects; discrete subaortic stenosis; heart defects, congenital; hypoplastic left heart syndrome; pulmonary valve stenosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease aortic coarctation; aortic valve stenosis; congenital heart defects; discrete subaortic stenosis; heart defects, congenital; hypoplastic left heart syndrome; pulmonary valve stenosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adrenal hyperplasia, congenital; congenital adrenal hyperplasia; virilism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adrenal hyperplasia, congenital; congenital adrenal hyperplasia; virilism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Neutropenia, nonimmune chronic idiopathic, of adults Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neutropenia, nonimmune chronic idiopathic, of adults phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cyclical neutropenia Gene Set

From ClinVar Gene-Phenotype Associations

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

Poikiloderma with neutropenia Gene Set

From ClinVar Gene-Phenotype Associations

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

Cyclic neutropenia Gene Set

From CTD Gene-Disease Associations

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

Neutropenia, Nonimmune Chronic Idiopathic, Adult Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neutropenia, Nonimmune Chronic Idiopathic, Adult from the curated CTD Gene-Disease Associations dataset.

Poikiloderma with Neutropenia Gene Set

From CTD Gene-Disease Associations

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

Neutropenia Gene Set

From CTD Gene-Disease Associations

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

neutropenia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

neutropenia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

transient neonatal neutropenia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

carcinoma, squamous cell; diarrhea; esophageal neoplasms; nausea; neutropenia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, squamous cell; diarrhea; esophageal neoplasms; nausea; neutropenia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hypotension; neoplasms; neutropenia; shock Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hypotension; neoplasms; neutropenia; shock in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hepatitis c, chronic; neutropenia; thrombocytopenia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hepatitis c, chronic; neutropenia; thrombocytopenia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neutropenia Gene Set

From GAD Gene-Disease Associations

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

gram-negative bacterial infections; neutropenia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease gram-negative bacterial infections; neutropenia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

inflammation; neutropenia Gene Set

From GAD Gene-Disease Associations

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

diarrhea; esophageal neoplasms; neutropenia; stomach neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diarrhea; esophageal neoplasms; neutropenia; stomach neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

gastrointestinal diseases; neutropenia; precursor cell lymphoblastic leukemia-lymphoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease gastrointestinal diseases; neutropenia; precursor cell lymphoblastic leukemia-lymphoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

lymphoma, b-cell; neutropenia; recurrence Gene Set

From GAD Gene-Disease Associations

genes associated with the disease lymphoma, b-cell; neutropenia; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

autoimmune diseases; neutropenia Gene Set

From GAD Gene-Disease Associations

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

carcinoma, non-small-cell lung; colorectal neoplasms; genitourinary neoplasms; lung neoplasms; neoplasm of lung ; neutropenia; urogenital neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, non-small-cell lung; colorectal neoplasms; genitourinary neoplasms; lung neoplasms; neoplasm of lung ; neutropenia; urogenital neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

b-cell lymphomas; lymphoma, b-cell; neutropenia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease b-cell lymphomas; lymphoma, b-cell; neutropenia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic idiopathic neutropenia Gene Set

From GAD Gene-Disease Associations

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

colorectal neoplasms; diarrhea; neutropenia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease colorectal neoplasms; diarrhea; neutropenia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neoplasms; neutropenia Gene Set

From GAD Gene-Disease Associations

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

neutropenia; precursor cell lymphoblastic leukemia-lymphoma; thrombocytopenia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neutropenia; precursor cell lymphoblastic leukemia-lymphoma; thrombocytopenia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

nausea; neutropenia; stomach neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease nausea; neutropenia; stomach neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

leukopenia; neutropenia Gene Set

From GAD Gene-Disease Associations

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

colorectal neoplasms; neutropenia Gene Set

From GAD Gene-Disease Associations

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

breast neoplasms; neutropenia Gene Set

From GAD Gene-Disease Associations

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

hematologic diseases; neutropenia; thrombocytopenia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hematologic diseases; neutropenia; thrombocytopenia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

leukopenia; neutropenia; precursor cell lymphoblastic leukemia-lymphoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease leukopenia; neutropenia; precursor cell lymphoblastic leukemia-lymphoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fever; neoplasms; neutropenia Gene Set

From GAD Gene-Disease Associations

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

neutropenia Gene Set

From GeneRIF Biological Term Annotations

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

Adverse response to chemotherapy (neutropenia/leucopenia) (paclitaxel + carboplatin) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Adverse response to chemotherapy (neutropenia/leucopenia) (paclitaxel + carboplatin) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Adverse response to chemotherapy (neutropenia/leucopenia) (docetaxel) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Adverse response to chemotherapy (neutropenia/leucopenia) (docetaxel) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Adverse response to chemotherapy (neutropenia/leucopenia) (all anthracycline-based drugs) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Adverse response to chemotherapy (neutropenia/leucopenia) (all anthracycline-based drugs) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Adverse response to chemotherapy (neutropenia/leucopenia) (paclitaxel) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Adverse response to chemotherapy (neutropenia/leucopenia) (paclitaxel) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Adverse response to chemotherapy (neutropenia/leucopenia) (all antimetabolite drugs) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Adverse response to chemotherapy (neutropenia/leucopenia) (all antimetabolite drugs) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Adverse response to chemotherapy (neutropenia/leucopenia) (all antimicrotubule drugs) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Adverse response to chemotherapy (neutropenia/leucopenia) (all antimicrotubule drugs) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Adverse response to chemotherapy (neutropenia/leucopenia) (etoposide) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Adverse response to chemotherapy (neutropenia/leucopenia) (etoposide) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Adverse response to chemotherapy (neutropenia/leucopenia) (all platinum-based drugs) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Adverse response to chemotherapy (neutropenia/leucopenia) (all platinum-based drugs) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Adverse response to chemotherapy (neutropenia/leucopenia) (gemcitabine) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Adverse response to chemotherapy (neutropenia/leucopenia) (gemcitabine) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Adverse response to chemotherapy (neutropenia/leucopenia) (camptothecin) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Adverse response to chemotherapy (neutropenia/leucopenia) (camptothecin) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Adverse response to chemotherapy (neutropenia/leucopenia) (carboplatin) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Adverse response to chemotherapy (neutropenia/leucopenia) (carboplatin) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Adverse response to chemotherapy (neutropenia/leucopenia) (all topoisomerase inhibitors) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Adverse response to chemotherapy (neutropenia/leucopenia) (all topoisomerase inhibitors) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Adverse response to chemotherapy (neutropenia/leucopenia) (cisplatin) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Adverse response to chemotherapy (neutropenia/leucopenia) (cisplatin) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Adverse response to chemotherapy (neutropenia/leucopenia) (cyclophosphamide) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Adverse response to chemotherapy (neutropenia/leucopenia) (cyclophosphamide) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Adverse response to chemotherapy (neutropenia/leucopenia) (5-fluorouracil) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Adverse response to chemotherapy (neutropenia/leucopenia) (5-fluorouracil) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Adverse response to chemotherapy (neutropenia/leucopenia) (epirubicin) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Adverse response to chemotherapy (neutropenia/leucopenia) (epirubicin) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

neutropenia Gene Set

From GWASdb SNP-Disease Associations

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

neutropenia Gene Set

From GWASdb SNP-Phenotype Associations

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

neutropenia Gene Set

From HPO Gene-Disease Associations

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

autoimmune neutropenia Gene Set

From HPO Gene-Disease Associations

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

Neutropenia Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

anemia, x-linked, with/without neutropenia and/or platelet abnormalities Gene Set

From OMIM Gene-Disease Associations

genes associated with the anemia, x-linked, with/without neutropenia and/or platelet abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset.

neutropenia, nonimmune chronic idiopathic, of adults Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutropenia, nonimmune chronic idiopathic, of adults phenotype from the curated OMIM Gene-Disease Associations dataset.

neutropenia, cyclic Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutropenia, cyclic phenotype from the curated OMIM Gene-Disease Associations dataset.

neutropenia, neonatal alloimmune Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutropenia, neonatal alloimmune phenotype from the curated OMIM Gene-Disease Associations dataset.

poikiloderma with neutropenia Gene Set

From OMIM Gene-Disease Associations

genes associated with the poikiloderma with neutropenia phenotype from the curated OMIM Gene-Disease Associations dataset.

neutropenia, alloimmune neonatal Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutropenia, alloimmune neonatal phenotype from the curated OMIM Gene-Disease Associations dataset.

Cataract, autosomal recessive congenital 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract, autosomal recessive congenital 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Indifference to pain, congenital, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Indifference to pain, congenital, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive congenital ichthyosis 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive congenital ichthyosis 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital myotonia, autosomal recessive form Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital myotonia, autosomal recessive form phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract, congenital nuclear, autosomal recessive 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract, congenital nuclear, autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract, congenital nuclear, autosomal recessive 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract, congenital nuclear, autosomal recessive 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive congenital ichthyosis 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive congenital ichthyosis 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive congenital ichthyosis 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive congenital ichthyosis 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive congenital ichthyosis 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive congenital ichthyosis 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive congenital ichthyosis 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive congenital ichthyosis 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive congenital ichthyosis 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive congenital ichthyosis 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive congenital ichthyosis 4A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive congenital ichthyosis 4A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive congenital ichthyosis 4B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive congenital ichthyosis 4B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Indifference to Pain, Congenital, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Indifference to Pain, Congenital, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 from the curated CTD Gene-Disease Associations dataset.

Cataract, Autosomal Recessive Congenital 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cataract, Autosomal Recessive Congenital 3 from the curated CTD Gene-Disease Associations dataset.

Cataract, Congenital Nuclear, Autosomal Recessive 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cataract, Congenital Nuclear, Autosomal Recessive 1 from the curated CTD Gene-Disease Associations dataset.

Cataract, Congenital Nuclear, Autosomal Recessive 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cataract, Congenital Nuclear, Autosomal Recessive 3 from the curated CTD Gene-Disease Associations dataset.

Cataract, Congenital Nuclear, Autosomal Recessive 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cataract, Congenital Nuclear, Autosomal Recessive 2 from the curated CTD Gene-Disease Associations dataset.

night blindness, congenital stationary (complete), 1f, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the night blindness, congenital stationary (complete), 1f, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

night blindness, congenital stationary (complete), 1b, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the night blindness, congenital stationary (complete), 1b, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

night blindness, congenital stationary (complete), 1c, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the night blindness, congenital stationary (complete), 1c, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

ichthyosis, congenital, autosomal recessive 4a Gene Set

From OMIM Gene-Disease Associations

genes associated with the ichthyosis, congenital, autosomal recessive 4a phenotype from the curated OMIM Gene-Disease Associations dataset.

night blindness, congenital stationary (incomplete), 2b, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the night blindness, congenital stationary (incomplete), 2b, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

night blindness, congenital stationary (complete), 1e, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the night blindness, congenital stationary (complete), 1e, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

ichthyosis, congenital, autosomal recessive 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ichthyosis, congenital, autosomal recessive 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

ichthyosis, congenital, autosomal recessive 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ichthyosis, congenital, autosomal recessive 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

ichthyosis, congenital, autosomal recessive 7 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ichthyosis, congenital, autosomal recessive 7 phenotype from the curated OMIM Gene-Disease Associations dataset.

ichthyosis, congenital, autosomal recessive 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ichthyosis, congenital, autosomal recessive 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

ichthyosis, congenital, autosomal recessive 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ichthyosis, congenital, autosomal recessive 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

ichthyosis, congenital, autosomal recessive 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ichthyosis, congenital, autosomal recessive 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

ichthyosis, congenital, autosomal recessive 8 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ichthyosis, congenital, autosomal recessive 8 phenotype from the curated OMIM Gene-Disease Associations dataset.

ichthyosis, congenital, autosomal recessive 9 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ichthyosis, congenital, autosomal recessive 9 phenotype from the curated OMIM Gene-Disease Associations dataset.

night blindness, congenital stationary (complete), 1d, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the night blindness, congenital stationary (complete), 1d, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

ichthyosis, congenital, autosomal recessive 10 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ichthyosis, congenital, autosomal recessive 10 phenotype from the curated OMIM Gene-Disease Associations dataset.

ichthyosis, congenital, autosomal recessive 11 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ichthyosis, congenital, autosomal recessive 11 phenotype from the curated OMIM Gene-Disease Associations dataset.

Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3) pathway from the Reactome Pathways dataset.

Defective CYP4F22 causes Ichthyosis, congenital, autosomal recessive 5 (ARCI5) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP4F22 causes Ichthyosis, congenital, autosomal recessive 5 (ARCI5) pathway from the Reactome Pathways dataset.

X-linked severe combined immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, reducing body, X-linked, early-onset, severe Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, reducing body, X-linked, early-onset, severe phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency due to ADA deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immunodeficiency 18, severe combined immunodeficiency variant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immunodeficiency 18, severe combined immunodeficiency variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperparathyroidism, neonatal severe Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperparathyroidism, neonatal severe phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ulna and fibula absence of with severe limb deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Severe X-linked myotubular myopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe X-linked myotubular myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency, atypical Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency, atypical phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MUCOPOLYSACCHARIDOSIS, TYPE VI, SEVERE Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MUCOPOLYSACCHARIDOSIS, TYPE VI, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency with sensitivity to ionizing radiation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency with sensitivity to ionizing radiation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe myoclonic epilepsy in infancy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe myoclonic epilepsy in infancy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Retinal dystrophy, early-onset severe Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Retinal dystrophy, early-onset severe phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Obesity, severe, due to leptin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Obesity, severe, due to leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sialic acid storage disease, severe infantile type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sialic acid storage disease, severe infantile type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation from the curated CTD Gene-Disease Associations dataset.

Hyperparathyroidism, Neonatal Severe Primary Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hyperparathyroidism, Neonatal Severe Primary from the curated CTD Gene-Disease Associations dataset.

Severe Combined Immunodeficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Combined Immunodeficiency from the curated CTD Gene-Disease Associations dataset.

Severe Dengue Gene Set

From CTD Gene-Disease Associations

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

Abnormalities, Severe Teratoid Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Abnormalities, Severe Teratoid from the curated CTD Gene-Disease Associations dataset.

Severe combined immunodeficiency due to adenosine deaminase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe combined immunodeficiency due to adenosine deaminase deficiency from the curated CTD Gene-Disease Associations dataset.

Severe Acute Respiratory Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Acute Respiratory Syndrome from the curated CTD Gene-Disease Associations dataset.

HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION from the curated CTD Gene-Disease Associations dataset.

Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations from the curated CTD Gene-Disease Associations dataset.

Severe combined immunodeficiency with sensitivity to ionizing radiation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe combined immunodeficiency with sensitivity to ionizing radiation from the curated CTD Gene-Disease Associations dataset.

Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities from the curated CTD Gene-Disease Associations dataset.

Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration from the curated CTD Gene-Disease Associations dataset.

Polycystic kidneys, severe infantile with tuberous sclerosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Polycystic kidneys, severe infantile with tuberous sclerosis from the curated CTD Gene-Disease Associations dataset.

Myopathy, Reducing Body, X-Linked, Early-Onset, Severe Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy, Reducing Body, X-Linked, Early-Onset, Severe from the curated CTD Gene-Disease Associations dataset.

severe combined immunodeficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease severe combined immunodeficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

severe acute respiratory syndrome Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease severe acute respiratory syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

severe nonproliferative diabetic retinopathy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease severe nonproliferative diabetic retinopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

severe combined immunodeficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

severe pre-eclampsia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

severe type iii hyperlipoproteinemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease severe type iii hyperlipoproteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyper-ige syndrome and severe eczema. atopy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyper-ige syndrome and severe eczema. atopy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

severe acute respiratory syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

severe trauma. mortality Gene Set

From GAD Gene-Disease Associations

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

severe childhood thrombosis Gene Set

From GAD Gene-Disease Associations

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

sars (severe acute respiratory syndrome) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease sars (severe acute respiratory syndrome) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyper-ige syndrome. severe eczema. atopy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyper-ige syndrome. severe eczema. atopy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

severe desmoid phenotype Gene Set

From GAD Gene-Disease Associations

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

mild and severe substance abuse Gene Set

From GAD Gene-Disease Associations

genes associated with the disease mild and severe substance abuse in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

severe malaria Gene Set

From GAD Gene-Disease Associations

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

communicable diseases; severe acute respiratory syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease communicable diseases; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anoxemia; anoxia; pneumonia, viral; severe acute respiratory syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anoxemia; anoxia; pneumonia, viral; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

severe acute radiotherapy side effects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease severe acute radiotherapy side effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

severe hyperkinetic disorders Gene Set

From GAD Gene-Disease Associations

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

severe sepsis in blunt trauma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease severe sepsis in blunt trauma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

lymphopenia; scid; severe combined immunodeficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease lymphopenia; scid; severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

severe ulcerative colitis Gene Set

From GAD Gene-Disease Associations

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

severe sepsis Gene Set

From GAD Gene-Disease Associations

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

bone necrosis; osteonecrosis; severe acute respiratory syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bone necrosis; osteonecrosis; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

x-linked severe combined immunodeficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease x-linked severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

severe rsv bronchiolitis Gene Set

From GAD Gene-Disease Associations

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

outcome after severe injury Gene Set

From GAD Gene-Disease Associations

genes associated with the disease outcome after severe injury in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

femur head necrosis; pulmonary fibrosis; severe acute respiratory syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease femur head necrosis; pulmonary fibrosis; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

severe sepsis after trauma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease severe sepsis after trauma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

immunologic deficiency syndromes; severe combined immunodeficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease immunologic deficiency syndromes; severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

severe photoaging of facial skin Gene Set

From GAD Gene-Disease Associations

genes associated with the disease severe photoaging of facial skin in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

severe Gene Set

From GeneRIF Biological Term Annotations

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

Severe acute respiratory syndrome (SARS)_Peripheral blood mononuclear cell_GSE1739 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during Severe acute respiratory syndrome (SARS)_Peripheral blood mononuclear cell_GSE1739 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

SCID - Severe combined immunodeficiency_Lung Tissue_GSE3414 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during SCID - Severe combined immunodeficiency_Lung Tissue_GSE3414 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

Treatment response for severe sepsis Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Treatment response for severe sepsis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Acne (severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Acne (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Chronic obstructive pulmonary disease (severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Chronic obstructive pulmonary disease (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Myopia (severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Myopia (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Chronic obstructive pulmonary disease (moderate to severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Chronic obstructive pulmonary disease (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Asthma (childhood, severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Asthma (childhood, severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

severe osteoporosis Gene Set

From HPO Gene-Disease Associations

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

severe platyspondyly Gene Set

From HPO Gene-Disease Associations

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

severe photosensitivity Gene Set

From HPO Gene-Disease Associations

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

severe hydrops fetalis Gene Set

From HPO Gene-Disease Associations

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

severe carpal ossification delay Gene Set

From HPO Gene-Disease Associations

genes associated with the severe carpal ossification delay phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe lactic acidosis Gene Set

From HPO Gene-Disease Associations

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

severe t-cell immunodeficiency Gene Set

From HPO Gene-Disease Associations

genes associated with the severe t-cell immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe combined immunodeficiency Gene Set

From HPO Gene-Disease Associations

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

severe recurrent varicella Gene Set

From HPO Gene-Disease Associations

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

severe visual impairment Gene Set

From HPO Gene-Disease Associations

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

intellectual disability, severe Gene Set

From HPO Gene-Disease Associations

genes associated with the intellectual disability, severe phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe hydrocephalus Gene Set

From HPO Gene-Disease Associations

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

severe failure to thrive Gene Set

From HPO Gene-Disease Associations

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

severe b lymphocytopenia Gene Set

From HPO Gene-Disease Associations

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

severe intrauterine growth retardation Gene Set

From HPO Gene-Disease Associations

genes associated with the severe intrauterine growth retardation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe short-limb dwarfism Gene Set

From HPO Gene-Disease Associations

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

severe hearing impairment Gene Set

From HPO Gene-Disease Associations

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

severe muscular hypotonia Gene Set

From HPO Gene-Disease Associations

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

severe demyelination of the white matter Gene Set

From HPO Gene-Disease Associations

genes associated with the severe demyelination of the white matter phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe sensorineural hearing impairment Gene Set

From HPO Gene-Disease Associations

genes associated with the severe sensorineural hearing impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe t lymphocytopenia Gene Set

From HPO Gene-Disease Associations

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

severe myopia Gene Set

From HPO Gene-Disease Associations

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

severe limb shortening Gene Set

From HPO Gene-Disease Associations

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

severe short stature Gene Set

From HPO Gene-Disease Associations

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

severe periodontitis Gene Set

From HPO Gene-Disease Associations

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

severe postnatal growth retardation Gene Set

From HPO Gene-Disease Associations

genes associated with the severe postnatal growth retardation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe global developmental delay Gene Set

From HPO Gene-Disease Associations

genes associated with the severe global developmental delay phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Severe Acute Respiratory Syndrome Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Severe Acute Respiratory Syndrome phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Severe Combined Immunodeficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Severe Combined Immunodeficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

mental retardation, severe, with spasticity and tapetoretinal degeneration Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, severe, with spasticity and tapetoretinal degeneration phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency due to il2 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency due to il2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

retinal dystrophy, early-onset severe Gene Set

From OMIM Gene-Disease Associations

genes associated with the retinal dystrophy, early-onset severe phenotype from the curated OMIM Gene-Disease Associations dataset.

ulna and fibula, absence of, with severe limb deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ulna and fibula, absence of, with severe limb deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

insulin resistance, severe, digenic Gene Set

From OMIM Gene-Disease Associations

genes associated with the insulin resistance, severe, digenic phenotype from the curated OMIM Gene-Disease Associations dataset.

{obesity, severe, susceptibility to, bmiq9} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {obesity, severe, susceptibility to, bmiq9} phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency due to ada deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency due to ada deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

encephalopathy, neonatal severe Gene Set

From OMIM Gene-Disease Associations

genes associated with the encephalopathy, neonatal severe phenotype from the curated OMIM Gene-Disease Associations dataset.

{obesity, severe, and type ii diabetes} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {obesity, severe, and type ii diabetes} phenotype from the curated OMIM Gene-Disease Associations dataset.

obesity, severe Gene Set

From OMIM Gene-Disease Associations

genes associated with the obesity, severe phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation phenotype from the curated OMIM Gene-Disease Associations dataset.

{influenza, severe, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {influenza, severe, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency, b cell-negative Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency, b cell-negative phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency, athabascan type Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency, athabascan type phenotype from the curated OMIM Gene-Disease Associations dataset.

polycystic kidney disease, infantile severe, with tuberous sclerosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the polycystic kidney disease, infantile severe, with tuberous sclerosis phenotype from the curated OMIM Gene-Disease Associations dataset.

pulmonary disease, chronic obstructive, severe early-onset Gene Set

From OMIM Gene-Disease Associations

genes associated with the pulmonary disease, chronic obstructive, severe early-onset phenotype from the curated OMIM Gene-Disease Associations dataset.

alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity Gene Set

From OMIM Gene-Disease Associations

genes associated with the alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency, t-cell negative, b-cell/natural killer cell-positive type Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency, t-cell negative, b-cell/natural killer cell-positive type phenotype from the curated OMIM Gene-Disease Associations dataset.

{malaria, severe, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {malaria, severe, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

{malaria, severe, resistance to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {malaria, severe, resistance to} phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, reducing body, x-linked, severe early-onset Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, reducing body, x-linked, severe early-onset phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency, x-linked Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.

Charcot-Marie-Tooth disease, X-linked dominant, 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Charcot-Marie-Tooth disease, X-linked dominant, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Charcot-Marie-Tooth disease, dominant intermediate F Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Charcot-Marie-Tooth disease, dominant intermediate F phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Charcot-Marie-Tooth disease, dominant intermediate E Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Charcot-Marie-Tooth disease, dominant intermediate E phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Charcot-Marie-Tooth disease, dominant intermediate C Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Charcot-Marie-Tooth disease, dominant intermediate C phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Beta-thalassemia, dominant inclusion body type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Beta-thalassemia, dominant inclusion body type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Osteogenesis imperfecta with normal sclerae, dominant form Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Osteogenesis imperfecta with normal sclerae, dominant form phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Chondrodysplasia punctata 2 X-linked dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Chondrodysplasia punctata 2 X-linked dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Larsen syndrome, dominant type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Larsen syndrome, dominant type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dominant hereditary optic atrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dominant hereditary optic atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Generalized dominant dystrophic epidermolysis bullosa Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Generalized dominant dystrophic epidermolysis bullosa phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Vitreoretinochoroidopathy dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Vitreoretinochoroidopathy dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Charcot-Marie-Tooth disease dominant intermediate 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Charcot-Marie-Tooth disease dominant intermediate 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dominant dystrophic epidermolysis bullosa with absence of skin Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dominant dystrophic epidermolysis bullosa with absence of skin phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked dominant scapuloperoneal myopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked dominant scapuloperoneal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Iridogoniodysgenesis, dominant type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Iridogoniodysgenesis, dominant type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Charcot-Marie-Tooth Disease, Dominant Intermediate D Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Charcot-Marie-Tooth Disease, Dominant Intermediate D from the curated CTD Gene-Disease Associations dataset.

Charcot-Marie-Tooth Disease, Dominant Intermediate A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Charcot-Marie-Tooth Disease, Dominant Intermediate A from the curated CTD Gene-Disease Associations dataset.

Scapuloperoneal Myopathy, X-Linked Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Scapuloperoneal Myopathy, X-Linked Dominant from the curated CTD Gene-Disease Associations dataset.

Charcot-Marie-Tooth Disease, Dominant Intermediate C Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Charcot-Marie-Tooth Disease, Dominant Intermediate C from the curated CTD Gene-Disease Associations dataset.

HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT from the curated CTD Gene-Disease Associations dataset.

Chondrodysplasia punctata 2, X-linked dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Chondrodysplasia punctata 2, X-linked dominant from the curated CTD Gene-Disease Associations dataset.

Beta Thalassemia, Dominant Inclusion Body Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Beta Thalassemia, Dominant Inclusion Body Type from the curated CTD Gene-Disease Associations dataset.

Iridogoniodysgenesis, dominant type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Iridogoniodysgenesis, dominant type from the curated CTD Gene-Disease Associations dataset.

Charcot-Marie-Tooth Disease, Dominant Intermediate B Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Charcot-Marie-Tooth Disease, Dominant Intermediate B from the curated CTD Gene-Disease Associations dataset.

Klippel Feil syndrome dominant type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Klippel Feil syndrome dominant type from the curated CTD Gene-Disease Associations dataset.

Larsen syndrome, dominant type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Larsen syndrome, dominant type from the curated CTD Gene-Disease Associations dataset.

dominant type 1 von willebrand's disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dominant type 1 von willebrand's disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dominant retinitis pigmentosa Gene Set

From GAD Gene-Disease Associations

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

dominant effect on hdl-cholesterol Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dominant effect on hdl-cholesterol in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dominant non-syndromic sensorineural hearing loss Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dominant non-syndromic sensorineural hearing loss in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dominant progressive deafness Gene Set

From GAD Gene-Disease Associations

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

hypophosphatemic rickets, x-linked dominant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hypophosphatemic rickets, x-linked dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dominant Gene Set

From GeneRIF Biological Term Annotations

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

x-linked dominant inheritance Gene Set

From HPO Gene-Disease Associations

genes associated with the x-linked dominant inheritance phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Hypophosphatemic Rickets, X-Linked Dominant Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Hypophosphatemic Rickets, X-Linked Dominant phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

charcot-marie-tooth disease, dominant intermediate f Gene Set

From OMIM Gene-Disease Associations

genes associated with the charcot-marie-tooth disease, dominant intermediate f phenotype from the curated OMIM Gene-Disease Associations dataset.

charcot-marie-tooth disease, dominant intermediate e Gene Set

From OMIM Gene-Disease Associations

genes associated with the charcot-marie-tooth disease, dominant intermediate e phenotype from the curated OMIM Gene-Disease Associations dataset.

charcot-marie-tooth disease, dominant intermediate d Gene Set

From OMIM Gene-Disease Associations

genes associated with the charcot-marie-tooth disease, dominant intermediate d phenotype from the curated OMIM Gene-Disease Associations dataset.

charcot-marie-tooth disease, dominant intermediate c Gene Set

From OMIM Gene-Disease Associations

genes associated with the charcot-marie-tooth disease, dominant intermediate c phenotype from the curated OMIM Gene-Disease Associations dataset.

charcot-marie-tooth disease, dominant intermediate b Gene Set

From OMIM Gene-Disease Associations

genes associated with the charcot-marie-tooth disease, dominant intermediate b phenotype from the curated OMIM Gene-Disease Associations dataset.

charcot-marie-tooth disease, dominant intermediate a Gene Set

From OMIM Gene-Disease Associations

genes associated with the charcot-marie-tooth disease, dominant intermediate a phenotype from the curated OMIM Gene-Disease Associations dataset.

thalassemia-beta, dominant inclusion-body Gene Set

From OMIM Gene-Disease Associations

genes associated with the thalassemia-beta, dominant inclusion-body phenotype from the curated OMIM Gene-Disease Associations dataset.

?charcot-marie-tooth disease, x-linked dominant, 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?charcot-marie-tooth disease, x-linked dominant, 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

l-ferritin deficiency, dominant and recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the l-ferritin deficiency, dominant and recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

chondrodysplasia punctata, x-linked dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the chondrodysplasia punctata, x-linked dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

aicardi-goutieres syndrome 1, dominant and recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the aicardi-goutieres syndrome 1, dominant and recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

bernard-soulier syndrome, type a2 (dominant) Gene Set

From OMIM Gene-Disease Associations

genes associated with the bernard-soulier syndrome, type a2 (dominant) phenotype from the curated OMIM Gene-Disease Associations dataset.

scapuloperoneal myopathy, x-linked dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the scapuloperoneal myopathy, x-linked dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

charcot-marie-tooth neuropathy, x-linked dominant, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the charcot-marie-tooth neuropathy, x-linked dominant, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

hypophosphatemic rickets, x-linked dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypophosphatemic rickets, x-linked dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

myotonia congenita, dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the myotonia congenita, dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

weill-marchesani syndrome 2, dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the weill-marchesani syndrome 2, dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

TG(20:2n6/20:2n6/20:2n6) Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the TG(20:2n6/20:2n6/20:2n6) metabolite from the curated HMDB Metabolites of Enzymes dataset.

Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital adrenal hyperplasia Gene Set

From ClinVar Gene-Phenotype Associations

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

Congenital human immunodeficiency virus Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital human immunodeficiency virus phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Diarrhea 5, with tufting enteropathy, congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Diarrhea 5, with tufting enteropathy, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Vertical talus, congenital Gene Set

From ClinVar Gene-Phenotype Associations

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

Congenital generalized lipodystrophy type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital generalized lipodystrophy type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glycogen storage disease IV, congenital neuromuscular Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glycogen storage disease IV, congenital neuromuscular phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leber congenital amaurosis 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leber congenital amaurosis 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leber congenital amaurosis 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leber congenital amaurosis 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Facial paresis, hereditary congenital, 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Facial paresis, hereditary congenital, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leber congenital amaurosis 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leber congenital amaurosis 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leber congenital amaurosis 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leber congenital amaurosis 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leber congenital amaurosis 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leber congenital amaurosis 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital glucose-galactose malabsorption Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital glucose-galactose malabsorption phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital sensory neuropathy with selective loss of small myelinated fibers Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital sensory neuropathy with selective loss of small myelinated fibers phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myasthenic syndrome, congenital, with pre- and postsynaptic defects Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, congenital, with pre- and postsynaptic defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, actin, congenital, with cores Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, actin, congenital, with cores phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Aphakia, congenital primary Gene Set

From ClinVar Gene-Phenotype Associations

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

Lipodystrophy, congenital generalized, type 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lipodystrophy, congenital generalized, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital contractural arachnodactyly Gene Set

From ClinVar Gene-Phenotype Associations

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

Leber congenital amaurosis 11 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leber congenital amaurosis 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital absence of salivary gland Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital absence of salivary gland phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Merosin deficient congenital muscular dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Merosin deficient congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nystagmus 6, congenital, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nystagmus 6, congenital, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Afibrinogenemia, congenital Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, congenital heart defects, and posterior embryotoxon Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, congenital heart defects, and posterior embryotoxon phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Walker-Warburg congenital muscular dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Walker-Warburg congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fibrosis of extraocular muscles, congenital, 3b Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fibrosis of extraocular muscles, congenital, 3b phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital amegakaryocytic thrombocytopenia Gene Set

From ClinVar Gene-Phenotype Associations

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

Myasthenic syndrome, congenital, fast-channel Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, congenital, fast-channel phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Diarrhea 3, secretory sodium, congenital, syndromic Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Diarrhea 3, secretory sodium, congenital, syndromic phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital dyserythropoietic anemia, type I Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital dyserythropoietic anemia, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital adrenal hypoplasia, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital adrenal hypoplasia, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lethal congenital contracture syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lethal congenital contracture syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital secretory diarrhea, chloride type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital secretory diarrhea, chloride type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypomyelination and Congenital Cataract Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypomyelination and Congenital Cataract phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fibrosis of extraocular muscles, congenital, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fibrosis of extraocular muscles, congenital, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fibrosis of extraocular muscles, congenital, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fibrosis of extraocular muscles, congenital, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Testicular anomalies with or without congenital heart disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Testicular anomalies with or without congenital heart disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

LIPOPROTEIN(a) DEFICIENCY, CONGENITAL Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the LIPOPROTEIN(a) DEFICIENCY, CONGENITAL phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital short bowel syndrome, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital short bowel syndrome, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital heart disease, multiple types, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital heart disease, multiple types, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myasthenic syndrome, slow-channel congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, slow-channel congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lethal congenital contractural syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lethal congenital contractural syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital heart defects, multiple types, 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital heart defects, multiple types, 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital erythropoietic porphyria Gene Set

From ClinVar Gene-Phenotype Associations

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

Hypothyroidism, congenital, nongoitrous, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypothyroidism, congenital, nongoitrous, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypothyroidism, congenital, nongoitrous, 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypothyroidism, congenital, nongoitrous, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypothyroidism, congenital, nongoitrous, 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypothyroidism, congenital, nongoitrous, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1s Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1s phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1L Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1L phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, actin, congenital, with excess of thin myofilaments Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, actin, congenital, with excess of thin myofilaments phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple congenital anomalies-hypotonia-seizures syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Rett syndrome, congenital variant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rett syndrome, congenital variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Eichsfeld type congenital muscular dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Eichsfeld type congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 2B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 2B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 2C Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 2C phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 2J Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 2J phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 2L Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 2L phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 2k Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 2k phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, congenital, with excess of muscle spindles Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, congenital, with excess of muscle spindles phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital lactase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Congenital disorder of glycosylation type 1Q Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1Q phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1P Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1P phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1H Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1H phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myasthenic syndrome, congenital, with tubular aggregates 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, congenital, with tubular aggregates 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1N Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1N phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Finnish congenital nephrotic syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Finnish congenital nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bile acid synthesis defect, congenital, 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Bile acid synthesis defect, congenital, 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Congenital disorder of glycosylation type 1F Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1F phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1v Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1v phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

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

Spondyloepiphyseal dysplasia with congenital joint dislocations Gene Set

From ClinVar Gene-Phenotype Associations

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

Muscular dystrophy, congenital, due to ITGA7 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

genes associated with the Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adult i Blood Group with or without Congenital Cataract Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adult i Blood Group with or without Congenital Cataract phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, congenital, compton-north Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, congenital, compton-north phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

T-cell immunodeficiency, congenital alopecia and nail dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the T-cell immunodeficiency, congenital alopecia and nail dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital cystic disease of liver Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital cystic disease of liver phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pancreatic agenesis and congenital heart disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pancreatic agenesis and congenital heart disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type Ix Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type Ix phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital order of glycosylation type 1r Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital order of glycosylation type 1r phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ullrich congenital muscular dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ullrich congenital muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leber congenital amaurosis 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leber congenital amaurosis 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital dyserythropoietic anemia, type II Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital dyserythropoietic anemia, type II phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital stationary night blindness, type 2B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital stationary night blindness, type 2B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital stationary night blindness, type 2A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital stationary night blindness, type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital central hypoventilation Gene Set

From ClinVar Gene-Phenotype Associations

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

Congenital ocular coloboma Gene Set

From ClinVar Gene-Phenotype Associations

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

ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1I Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1K Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1K phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1J Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1J phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1O Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1O phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1C Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1C phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1E Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1E phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1D Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1D phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1G Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1G phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1y Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1y phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Digital clubbing, isolated congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Digital clubbing, isolated congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1u Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1u phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital disorder of glycosylation type 1t Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital disorder of glycosylation type 1t phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Anti-plasmin deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

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

Prothrombin deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

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

Congenital defect of folate absorption Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital defect of folate absorption phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lethal congenital contracture syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lethal congenital contracture syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital aniridia Gene Set

From ClinVar Gene-Phenotype Associations

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

Congenital long QT syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital long QT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital hyperammonemia, type I Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital hyperammonemia, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Congenital muscular dystrophy due to partial LAMA2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Multiple congenital exostosis Gene Set

From ClinVar Gene-Phenotype Associations

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

Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glutamine deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

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

Multiple congenital anomalies-hypotonia-seizures syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple congenital anomalies-hypotonia-seizures syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leber congenital amaurosis 10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leber congenital amaurosis 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital microvillous atrophy Gene Set

From ClinVar Gene-Phenotype Associations

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

Leber congenital amaurosis 12 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leber congenital amaurosis 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leber congenital amaurosis 13 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leber congenital amaurosis 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leber congenital amaurosis 15 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leber congenital amaurosis 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.