Name

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.

Renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal tubular acidosis, distal, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Renal tubular acidosis, distal, autosomal recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Renal tubular acidosis, distal, autosomal recessive from the curated CTD Gene-Disease Associations dataset.

renal tubular acidosis, distal, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the renal tubular acidosis, distal, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

Renal tubular acidosis, distal, with normal red cell morphology Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal tubular acidosis, distal, with normal red cell morphology phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal tubular acidosis, distal, with hemolytic anemia Gene Set

From ClinVar Gene-Phenotype Associations

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

Renal Tubular Acidosis, Distal, With Hemolytic Anemia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Renal Tubular Acidosis, Distal, With Hemolytic Anemia from the curated CTD Gene-Disease Associations dataset.

Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness from the curated CTD Gene-Disease Associations dataset.

familial distal renal tubular acidosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease familial distal renal tubular acidosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

distal renal tubular acidosis Gene Set

From HPO Gene-Disease Associations

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

renal tubular acidosis, distal, ar Gene Set

From OMIM Gene-Disease Associations

genes associated with the renal tubular acidosis, distal, ar phenotype from the curated OMIM Gene-Disease Associations dataset.

renal tubular acidosis, distal, ad Gene Set

From OMIM Gene-Disease Associations

genes associated with the renal tubular acidosis, distal, ad phenotype from the curated OMIM Gene-Disease Associations dataset.

osteopetrosis, autosomal recessive 3, with renal tubular acidosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the osteopetrosis, autosomal recessive 3, with renal tubular acidosis phenotype from the curated OMIM Gene-Disease Associations dataset.

generalized distal tubular acidosis Gene Set

From HPO Gene-Disease Associations

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

Osteopetrosis with renal tubular acidosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Osteopetrosis with renal tubular acidosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal tubular acidosis with progressive nerve deafness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal tubular acidosis with progressive nerve deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Acidosis, Renal Tubular Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Acidosis, Renal Tubular from the curated CTD Gene-Disease Associations dataset.

Osteopetrosis with renal tubular acidosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Osteopetrosis with renal tubular acidosis from the curated CTD Gene-Disease Associations dataset.

Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation from the curated CTD Gene-Disease Associations dataset.

renal tubular acidosis Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

proximal renal tubular acidosis Gene Set

From HPO Gene-Disease Associations

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

renal tubular acidosis Gene Set

From HPO Gene-Disease Associations

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

bicarbonate-wasting renal tubular acidosis Gene Set

From HPO Gene-Disease Associations

genes associated with the bicarbonate-wasting renal tubular acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Acidosis, Renal Tubular Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

renal tubular acidosis Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the renal tubular acidosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

renal tubular acidosis, proximal, with ocular abnormalities Gene Set

From OMIM Gene-Disease Associations

genes associated with the renal tubular acidosis, proximal, with ocular abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset.

renal tubular acidosis with deafness Gene Set

From OMIM Gene-Disease Associations

genes associated with the renal tubular acidosis with deafness 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.

distal tubular epithelium Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue distal tubular epithelium in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression 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.

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.

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.

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.

RENAL TUBULAR DYSGENESIS Gene Set

From CTD Gene-Disease Associations

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

renal tubular transport disease Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

mucinous tubular and spindle renal cell carcinoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease mucinous tubular and spindle renal cell carcinoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

renal tubular transport disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

renal tubular damage Gene Set

From GAD Gene-Disease Associations

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

renal tubular secretion Gene Set

From GO Biological Process Annotations

genes participating in the renal tubular secretion biological process from the curated GO Biological Process Annotations dataset.

increased renal tubular phosphate reabsorption Gene Set

From HPO Gene-Disease Associations

genes associated with the increased renal tubular phosphate reabsorption phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

decreased renal tubular phosphate excretion Gene Set

From HPO Gene-Disease Associations

genes associated with the decreased renal tubular phosphate excretion phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

parathormone-independent increased renal tubular calcium reabsorption Gene Set

From HPO Gene-Disease Associations

genes associated with the parathormone-independent increased renal tubular calcium reabsorption phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

renal tubular dysfunction Gene Set

From HPO Gene-Disease Associations

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

Renal Tubular Transport, Inborn Errors Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Renal Tubular Transport, Inborn Errors phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

renal tubular necrosis Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the renal tubular necrosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

renal tubular dysgenesis Gene Set

From OMIM Gene-Disease Associations

genes associated with the renal tubular dysgenesis phenotype from the curated OMIM Gene-Disease Associations dataset.

chronic kidney insufficiency; hypertension, renal; nephrosclerosis; renal hypertension; renal insufficiency, chronic Gene Set

From GAD Gene-Disease Associations

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

chronic kidney insufficiency; hypertension, renal; proteinuria; renal hypertension; renal insufficiency, chronic Gene Set

From GAD Gene-Disease Associations

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

chronic renal failure; hypertension, renal; kidney failure, chronic; renal hypertension Gene Set

From GAD Gene-Disease Associations

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

Distal spinal muscular atrophy, autosomal recessive 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Distal spinal muscular atrophy, autosomal recessive 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 from the curated CTD Gene-Disease Associations dataset.

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 from the curated CTD Gene-Disease Associations dataset.

spinal muscular atrophy, distal, autosomal recessive, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the spinal muscular atrophy, distal, autosomal recessive, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

spinal muscular atrophy, distal, autosomal recessive, 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the spinal muscular atrophy, distal, autosomal recessive, 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

spinal muscular atrophy, chronic distal, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spinal muscular atrophy, chronic distal, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

renal distal tubule Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

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

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

?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.

Myopathy, lactic acidosis, and sideroblastic anemia 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, lactic acidosis, and sideroblastic anemia 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, lactic acidosis, and sideroblastic anemia 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, lactic acidosis, and sideroblastic anemia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy with lactic acidosis, hereditary Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy with lactic acidosis, hereditary phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Acidosis, Lactic Gene Set

From CTD Gene-Disease Associations

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

Myopathy with lactic acidosis and sideroblastic anemia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy with lactic acidosis and sideroblastic anemia from the curated CTD Gene-Disease Associations dataset.

Acidosis Gene Set

From CTD Gene-Disease Associations

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

Myopathy with Lactic Acidosis, Hereditary Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy with Lactic Acidosis, Hereditary from the curated CTD Gene-Disease Associations dataset.

Acidosis, Respiratory Gene Set

From CTD Gene-Disease Associations

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

lactic acidosis Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

metabolic acidosis Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

acidosis, lactic Gene Set

From GAD Gene-Disease Associations

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

acidosis Gene Set

From GAD Gene-Disease Associations

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

acidosis Gene Set

From GeneRIF Biological Term Annotations

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

MELAS - Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes_Muscle - Striated (Skeletal) (MMHCC)_GSE1462 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during MELAS - Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes_Muscle - Striated (Skeletal) (MMHCC)_GSE1462 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

chronic lactic acidosis Gene Set

From HPO Gene-Disease Associations

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

respiratory acidosis Gene Set

From HPO Gene-Disease Associations

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

congenital lactic acidosis Gene Set

From HPO Gene-Disease Associations

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

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.

mixed respiratory and metabolic acidosis Gene Set

From HPO Gene-Disease Associations

genes associated with the mixed respiratory and metabolic acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hyperkalemic metabolic acidosis Gene Set

From HPO Gene-Disease Associations

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

chronic metabolic acidosis Gene Set

From HPO Gene-Disease Associations

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

acidosis Gene Set

From HPO Gene-Disease Associations

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

metabolic acidosis Gene Set

From HPO Gene-Disease Associations

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

chronic acidosis Gene Set

From HPO Gene-Disease Associations

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

stress/infection-induced lactic acidosis Gene Set

From HPO Gene-Disease Associations

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

hyperchloremic acidosis Gene Set

From HPO Gene-Disease Associations

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

episodic metabolic acidosis Gene Set

From HPO Gene-Disease Associations

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

hyperchloremic metabolic acidosis Gene Set

From HPO Gene-Disease Associations

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

lactic acidosis Gene Set

From HPO Gene-Disease Associations

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

Acidosis, Lactic Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Acidosis Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

acidosis Gene Set

From MPO Gene-Phenotype Associations

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

myopathy with lactic acidosis, hereditary Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy with lactic acidosis, hereditary phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, lactic acidosis, and sideroblastic anemia 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, lactic acidosis, and sideroblastic anemia 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

Myopathy, tubular aggregate, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, tubular aggregate, 2 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.

Myasthenia, limb-girdle, with tubular aggregates Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenia, limb-girdle, with tubular aggregates phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy with tubular aggregates Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy with tubular aggregates phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

endoplasmic reticulum tubular network Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the endoplasmic reticulum tubular network cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

platelet dense tubular network membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the platelet dense tubular network membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

platelet dense tubular network Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the platelet dense tubular network cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

endoplasmic reticulum tubular network Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the endoplasmic reticulum tubular network cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

tubular endosome Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

Kidney Tubular Necrosis, Acute Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Kidney Tubular Necrosis, Acute from the curated CTD Gene-Disease Associations dataset.

gastric tubular adenocarcinoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

acute kidney tubular necrosis Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

tubular adenocarcinoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

tubular Gene Set

From GeneRIF Biological Term Annotations

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

positive regulation of endoplasmic reticulum tubular network organization Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of endoplasmic reticulum tubular network organization biological process from the curated GO Biological Process Annotations dataset.

regulation of endoplasmic reticulum tubular network organization Gene Set

From GO Biological Process Annotations

genes participating in the regulation of endoplasmic reticulum tubular network organization biological process from the curated GO Biological Process Annotations dataset.

endoplasmic reticulum tubular network organization Gene Set

From GO Biological Process Annotations

genes participating in the endoplasmic reticulum tubular network organization biological process from the curated GO Biological Process Annotations dataset.

protein localization to endoplasmic reticulum tubular network Gene Set

From GO Biological Process Annotations

genes participating in the protein localization to endoplasmic reticulum tubular network biological process from the curated GO Biological Process Annotations dataset.

endoplasmic reticulum tubular network Gene Set

From GO Cellular Component Annotations

proteins localized to the endoplasmic reticulum tubular network cellular component from the curated GO Cellular Component Annotations dataset.

platelet dense tubular network membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the platelet dense tubular network membrane cellular component from the curated GO Cellular Component Annotations dataset.

platelet dense tubular network Gene Set

From GO Cellular Component Annotations

proteins localized to the platelet dense tubular network cellular component from the curated GO Cellular Component Annotations dataset.

tubular endosome Gene Set

From GO Cellular Component Annotations

proteins localized to the tubular endosome cellular component from the curated GO Cellular Component Annotations dataset.

cortically dense long tubular bones Gene Set

From HPO Gene-Disease Associations

genes associated with the cortically dense long tubular bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

tubular atrophy Gene Set

From HPO Gene-Disease Associations

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

periosteal thickening of long tubular bones Gene Set

From HPO Gene-Disease Associations

genes associated with the periosteal thickening of long tubular bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

epiphyseal deformities of tubular bones Gene Set

From HPO Gene-Disease Associations

genes associated with the epiphyseal deformities of tubular bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

tubular basement membrane disintegration Gene Set

From HPO Gene-Disease Associations

genes associated with the tubular basement membrane disintegration phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short tubular bones (hand) Gene Set

From HPO Gene-Disease Associations

genes associated with the short tubular bones (hand) phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

flattened, squared-off epiphyses of tubular bones Gene Set

From HPO Gene-Disease Associations

genes associated with the flattened, squared-off epiphyses of tubular bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aorta tubular hypoplasia Gene Set

From MPO Gene-Phenotype Associations

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

tubular nephritis Gene Set

From MPO Gene-Phenotype Associations

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

myasthenia, congenital, with tubular aggregates 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the myasthenia, congenital, with tubular aggregates 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, tubular aggregate Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, tubular aggregate phenotype from the curated OMIM Gene-Disease Associations dataset.

?myopathy, tubular aggregate, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?myopathy, tubular aggregate, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

myasthenic syndrome, congenital, with tubular aggregates 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the myasthenic syndrome, congenital, with tubular aggregates 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

proximale tubular epithelium Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

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

proximale tubular epithelium cell line Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue proximale tubular epithelium cell line in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

diabetes, post-renal transplant; post-renal transplant diabetes Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes, post-renal transplant; post-renal transplant diabetes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, renal cell; kidney neoplasms; renal cell carcinoma; von hippel-lindau disease; von hippel-lindau syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, renal cell; kidney neoplasms; renal cell carcinoma; von hippel-lindau disease; von hippel-lindau syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adenocarcinoma; carcinoma, renal cell; endometrial neoplasms; kidney neoplasms; neoplasms; renal cell carcinoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adenocarcinoma; carcinoma, renal cell; endometrial neoplasms; kidney neoplasms; neoplasms; renal cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, renal cell; kidney neoplasms; renal cell carcinoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, renal cell; kidney neoplasms; renal cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, renal cell; renal cell carcinoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, renal cell; renal cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, renal cell; diabetes mellitus; hypertension; renal cell carcinoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, renal cell; diabetes mellitus; hypertension; renal cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, renal cell; colonic neoplasms; kidney neoplasms; renal cell carcinoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, renal cell; colonic neoplasms; kidney neoplasms; renal cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, renal cell; kidney neoplasms; neoplasm recurrence, local; renal cell carcinoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, renal cell; kidney neoplasms; neoplasm recurrence, local; renal cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, renal cell; gilbert disease; hyperbilirubinemia; kidney neoplasms; renal cell carcinoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, renal cell; gilbert disease; hyperbilirubinemia; kidney neoplasms; renal cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, papillary; carcinoma, renal cell; kidney neoplasms; renal cell carcinoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, papillary; carcinoma, renal cell; kidney neoplasms; renal cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

renal involvement and renal sequelae Gene Set

From GAD Gene-Disease Associations

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

Distal hereditary motor neuronopathy 2D Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Distal hereditary motor neuronopathy 2D phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Distal spinal muscular atrophy, X-linked 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Distal spinal muscular atrophy, X-linked 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Distal hereditary motor neuronopathy type 2A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Distal hereditary motor neuronopathy type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Distal hereditary motor neuronopathy type 2C Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Distal hereditary motor neuronopathy type 2C phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Distal hereditary motor neuronopathy type 2B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Distal hereditary motor neuronopathy type 2B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Distal myopathy Markesbery-Griggs type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Distal myopathy Markesbery-Griggs type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, distal, 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, distal, 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Distal hereditary motor neuronopathy type 5B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Distal hereditary motor neuronopathy type 5B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Distal arthrogryposis type 1B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Distal arthrogryposis type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Distal hereditary motor neuronopathy type 7B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Distal hereditary motor neuronopathy type 7B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Distal hereditary motor neuronopathy type 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Distal hereditary motor neuronopathy type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Distal arthrogryposis type 2B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Distal arthrogryposis type 2B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arthrogryposis, distal, type 5d Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arthrogryposis, distal, type 5d phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, distal, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, distal, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, distal, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, distal, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, Distal, with Anterior Tibial Onset Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy, Distal, with Anterior Tibial Onset from the curated CTD Gene-Disease Associations dataset.

Welander distal myopathy, Swedish type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Welander distal myopathy, Swedish type from the curated CTD Gene-Disease Associations dataset.

Neuropathy, Distal Hereditary Motor, Type IIA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuropathy, Distal Hereditary Motor, Type IIA from the curated CTD Gene-Disease Associations dataset.

Neuronopathy, Distal Hereditary Motor, Type V Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuronopathy, Distal Hereditary Motor, Type V from the curated CTD Gene-Disease Associations dataset.

Jacobsen Distal 11q Deletion Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Jacobsen Distal 11q Deletion Syndrome from the curated CTD Gene-Disease Associations dataset.

Neuronopathy, Distal Hereditary Motor, Type IIB Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuronopathy, Distal Hereditary Motor, Type IIB from the curated CTD Gene-Disease Associations dataset.

Arthrogryposis, Distal, Type 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arthrogryposis, Distal, Type 4 from the curated CTD Gene-Disease Associations dataset.

ARTHROGRYPOSIS, DISTAL, TYPE 1A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ARTHROGRYPOSIS, DISTAL, TYPE 1A from the curated CTD Gene-Disease Associations dataset.

Distal myopathy, Nonaka type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Distal myopathy, Nonaka type from the curated CTD Gene-Disease Associations dataset.

NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC from the curated CTD Gene-Disease Associations dataset.

Neuropathy, Distal Hereditary Motor, Type VIIA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuropathy, Distal Hereditary Motor, Type VIIA from the curated CTD Gene-Disease Associations dataset.

Arthrogryposis multiplex congenita, distal, X-linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arthrogryposis multiplex congenita, distal, X-linked from the curated CTD Gene-Disease Associations dataset.

Distal Myopathies Gene Set

From CTD Gene-Disease Associations

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

Spinal Muscular Atrophy, Distal, Congenital Nonprogressive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinal Muscular Atrophy, Distal, Congenital Nonprogressive from the curated CTD Gene-Disease Associations dataset.

Neuronopathy, Distal Hereditary Motor, Type Viib Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuronopathy, Distal Hereditary Motor, Type Viib from the curated CTD Gene-Disease Associations dataset.

Spinal Muscular Atrophy, Distal, X-Linked 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinal Muscular Atrophy, Distal, X-Linked 3 from the curated CTD Gene-Disease Associations dataset.

Distal arthrogryposis type 2B Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Distal arthrogryposis type 2B from the curated CTD Gene-Disease Associations dataset.

distal muscular dystrophy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

distal hereditary motor neuropathy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

distal arthrogryposis Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

proximal chromosome 9p to q and distal chromosome 9q Gene Set

From GAD Gene-Disease Associations

genes associated with the disease proximal chromosome 9p to q and distal chromosome 9q in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

distal myopathies; myositis, inclusion body Gene Set

From GAD Gene-Disease Associations

genes associated with the disease distal myopathies; myositis, inclusion body in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

distal Gene Set

From GeneRIF Biological Term Annotations

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

proximal/distal pattern formation involved in nephron development Gene Set

From GO Biological Process Annotations

genes participating in the proximal/distal pattern formation involved in nephron development biological process from the curated GO Biological Process Annotations dataset.

metanephric distal convoluted tubule development Gene Set

From GO Biological Process Annotations

genes participating in the metanephric distal convoluted tubule development biological process from the curated GO Biological Process Annotations dataset.

proximal/distal pattern formation involved in metanephric nephron development Gene Set

From GO Biological Process Annotations

genes participating in the proximal/distal pattern formation involved in metanephric nephron development biological process from the curated GO Biological Process Annotations dataset.

metanephric distal tubule development Gene Set

From GO Biological Process Annotations

genes participating in the metanephric distal tubule development biological process from the curated GO Biological Process Annotations dataset.

metanephric distal tubule morphogenesis Gene Set

From GO Biological Process Annotations

genes participating in the metanephric distal tubule morphogenesis biological process from the curated GO Biological Process Annotations dataset.

distal tubule morphogenesis Gene Set

From GO Biological Process Annotations

genes participating in the distal tubule morphogenesis biological process from the curated GO Biological Process Annotations dataset.

distal tubule development Gene Set

From GO Biological Process Annotations

genes participating in the distal tubule development biological process from the curated GO Biological Process Annotations dataset.

lung proximal/distal axis specification Gene Set

From GO Biological Process Annotations

genes participating in the lung proximal/distal axis specification biological process from the curated GO Biological Process Annotations dataset.

polarity specification of proximal/distal axis Gene Set

From GO Biological Process Annotations

genes participating in the polarity specification of proximal/distal axis biological process from the curated GO Biological Process Annotations dataset.

proximal/distal axis specification Gene Set

From GO Biological Process Annotations

genes participating in the proximal/distal axis specification biological process from the curated GO Biological Process Annotations dataset.

proximal/distal pattern formation Gene Set

From GO Biological Process Annotations

genes participating in the proximal/distal pattern formation biological process from the curated GO Biological Process Annotations dataset.

distal convoluted tubule development Gene Set

From GO Biological Process Annotations

genes participating in the distal convoluted tubule development biological process from the curated GO Biological Process Annotations dataset.

rna polymerase ii distal enhancer sequence-specific dna binding transcription factor activity involved in positive regulation of transcription Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase ii distal enhancer sequence-specific dna binding transcription factor activity involved in positive regulation of transcription molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase ii distal enhancer sequence-specific dna binding transcription factor activity Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase ii distal enhancer sequence-specific dna binding transcription factor activity molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase ii distal enhancer sequence-specific dna binding Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase ii distal enhancer sequence-specific dna binding molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase ii distal enhancer sequence-specific dna binding transcription factor activity involved in negative regulation of transcription Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase ii distal enhancer sequence-specific dna binding transcription factor activity involved in negative regulation of transcription molecular function from the curated GO Molecular Function Annotations dataset.

wide tufts of distal phalanges Gene Set

From HPO Gene-Disease Associations

genes associated with the wide tufts of distal phalanges phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

tapering pointed ends of distal finger phalanges Gene Set

From HPO Gene-Disease Associations

genes associated with the tapering pointed ends of distal finger phalanges phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short distal phalanx of finger Gene Set

From HPO Gene-Disease Associations

genes associated with the short distal phalanx of finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the distal phalanx of the 5th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the distal phalanx of the 5th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

distal upper limb muscle weakness Gene Set

From HPO Gene-Disease Associations

genes associated with the distal upper limb muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteolytic defects of the distal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the osteolytic defects of the distal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the distal phalanx of the 2nd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the distal phalanx of the 2nd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

distal widening of metacarpals Gene Set

From HPO Gene-Disease Associations

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

late-onset distal muscle weakness Gene Set

From HPO Gene-Disease Associations

genes associated with the late-onset distal muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the distal phalanx of the 3rd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the distal phalanx of the 3rd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

impaired distal vibration sensation Gene Set

From HPO Gene-Disease Associations

genes associated with the impaired distal vibration sensation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad distal phalanx of the thumb Gene Set

From HPO Gene-Disease Associations

genes associated with the broad distal phalanx of the thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

duplication of distal phalanx of toe Gene Set

From HPO Gene-Disease Associations

genes associated with the duplication of distal phalanx of toe phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

partial duplication of the distal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the partial duplication of the distal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

impaired distal tactile sensation Gene Set

From HPO Gene-Disease Associations

genes associated with the impaired distal tactile sensation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

duplication of the distal phalanx of hand Gene Set

From HPO Gene-Disease Associations

genes associated with the duplication of the distal phalanx of hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the epiphyses of the distal phalanx of finger Gene Set

From HPO Gene-Disease Associations

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

broad distal phalanges of all fingers Gene Set

From HPO Gene-Disease Associations

genes associated with the broad distal phalanges of all fingers phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

duplication of the distal phalanx of the 3rd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the duplication of the distal phalanx of the 3rd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

sclerosis of distal finger phalanx Gene Set

From HPO Gene-Disease Associations

genes associated with the sclerosis of distal finger phalanx phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the distal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the distal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the distal phalanx of the thumb Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the distal phalanx of the thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

trapezoidal distal femoral condyles Gene Set

From HPO Gene-Disease Associations

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

partial duplication of the distal phalanx of the 3rd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the partial duplication of the distal phalanx of the 3rd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

dysplastic distal thumb phalanges with a central hole Gene Set

From HPO Gene-Disease Associations

genes associated with the dysplastic distal thumb phalanges with a central hole phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

widened distal phalanges Gene Set

From HPO Gene-Disease Associations

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

abnormality of the distal femoral epiphysis Gene Set

From HPO Gene-Disease Associations

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

small distal femoral epiphysis Gene Set

From HPO Gene-Disease Associations

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

aplasia/hypoplasia of the distal phalanges of the toes Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the distal phalanges of the toes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) Gene Set

From HPO Gene-Disease Associations

genes associated with the osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

partial duplication of the distal phalanx of the 2nd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the partial duplication of the distal phalanx of the 2nd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad distal hallux Gene Set

From HPO Gene-Disease Associations

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

absent distal interphalangeal creases Gene Set

From HPO Gene-Disease Associations

genes associated with the absent distal interphalangeal creases phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

triangular shaped distal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the triangular shaped distal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

slender distal phalanx of finger Gene Set

From HPO Gene-Disease Associations

genes associated with the slender distal phalanx of finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad distal phalanx of finger Gene Set

From HPO Gene-Disease Associations

genes associated with the broad distal phalanx of finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the distal phalanx of the 4th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the distal phalanx of the 4th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

distal ulnar hypoplasia Gene Set

From HPO Gene-Disease Associations

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

short distal phalanx of the 3rd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the short distal phalanx of the 3rd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

progressive distal muscular atrophy Gene Set

From HPO Gene-Disease Associations

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

distal upper limb amyotrophy Gene Set

From HPO Gene-Disease Associations

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

bifid distal phalanx of the thumb Gene Set

From HPO Gene-Disease Associations

genes associated with the bifid distal phalanx of the thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

distal lower limb amyotrophy Gene Set

From HPO Gene-Disease Associations

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

distal lower limb muscle weakness Gene Set

From HPO Gene-Disease Associations

genes associated with the distal lower limb muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

decreased distal sensory nerve action potential Gene Set

From HPO Gene-Disease Associations

genes associated with the decreased distal sensory nerve action potential phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the distal phalanx of the 4th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the distal phalanx of the 4th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

distal femoral metaphyseal abnormality Gene Set

From HPO Gene-Disease Associations

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

distal tapering of metatarsals Gene Set

From HPO Gene-Disease Associations

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

distal ileal atresia Gene Set

From HPO Gene-Disease Associations

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

distal tapering femur Gene Set

From HPO Gene-Disease Associations

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

ivory epiphyses of the distal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the ivory epiphyses of the distal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

duplication of the distal phalanx of the thumb Gene Set

From HPO Gene-Disease Associations

genes associated with the duplication of the distal phalanx of the thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplastic distal humeri Gene Set

From HPO Gene-Disease Associations

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

complete duplication of the distal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the complete duplication of the distal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad distal phalanx of the toes Gene Set

From HPO Gene-Disease Associations

genes associated with the broad distal phalanx of the toes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

distal amyotrophy Gene Set

From HPO Gene-Disease Associations

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

broad distal phalanx of the hallux Gene Set

From HPO Gene-Disease Associations

genes associated with the broad distal phalanx of the hallux phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

wide distal femoral metaphysis Gene Set

From HPO Gene-Disease Associations

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

abnormality of the distal phalanx of the 5th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the distal phalanx of the 5th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the distal phalanx of the 3rd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the distal phalanx of the 3rd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

distal shortening of limbs Gene Set

From HPO Gene-Disease Associations

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

osteolytic defects of the distal phalanges of the toes Gene Set

From HPO Gene-Disease Associations

genes associated with the osteolytic defects of the distal phalanges of the toes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

distal sensory impairment of all modalities Gene Set

From HPO Gene-Disease Associations

genes associated with the distal sensory impairment of all modalities phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

fifth finger distal phalanx clinodactyly Gene Set

From HPO Gene-Disease Associations

genes associated with the fifth finger distal phalanx clinodactyly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the distal phalanx of the hallux Gene Set

From HPO Gene-Disease Associations

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

duplication of the distal phalanx of the hallux Gene Set

From HPO Gene-Disease Associations

genes associated with the duplication of the distal phalanx of the hallux phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

club-shaped distal femur Gene Set

From HPO Gene-Disease Associations

genes associated with the club-shaped distal femur phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short distal phalanx of the 5th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the short distal phalanx of the 5th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the distal phalanges of the toes Gene Set

From HPO Gene-Disease Associations

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

shortening of all distal phalanges of the fingers Gene Set

From HPO Gene-Disease Associations

genes associated with the shortening of all distal phalanges of the fingers phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

distal/middle symphalangism of 5th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the distal/middle symphalangism of 5th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the distal phalanx of the thumb Gene Set

From HPO Gene-Disease Associations

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

distal femoral bowing Gene Set

From HPO Gene-Disease Associations

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

long distal phalanx of finger Gene Set

From HPO Gene-Disease Associations

genes associated with the long distal phalanx of finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

distal muscle weakness Gene Set

From HPO Gene-Disease Associations

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

absent distal phalanges Gene Set

From HPO Gene-Disease Associations

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

distal symphalangism Gene Set

From HPO Gene-Disease Associations

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

short distal phalanx of the thumb Gene Set

From HPO Gene-Disease Associations

genes associated with the short distal phalanx of the thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

partial duplication of the distal phalanx of the hallux Gene Set

From HPO Gene-Disease Associations

genes associated with the partial duplication of the distal phalanx of the hallux phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

bifid distal phalanx of toe Gene Set

From HPO Gene-Disease Associations

genes associated with the bifid distal phalanx of toe phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypermobility of distal interphalangeal joints Gene Set

From HPO Gene-Disease Associations

genes associated with the hypermobility of distal interphalangeal joints phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

irregular distal femoral epiphysis Gene Set

From HPO Gene-Disease Associations

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

short distal phalanx of toe Gene Set

From HPO Gene-Disease Associations

genes associated with the short distal phalanx of toe phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short distal phalanx of the 2nd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the short distal phalanx of the 2nd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short distal phalanx of the 4th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the short distal phalanx of the 4th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

distal sensory impairment Gene Set

From HPO Gene-Disease Associations

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

duplication of the distal phalanx of the 2nd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the duplication of the distal phalanx of the 2nd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

progressive distal muscle weakness Gene Set

From HPO Gene-Disease Associations

genes associated with the progressive distal muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

tapered distal phalanges of finger Gene Set

From HPO Gene-Disease Associations

genes associated with the tapered distal phalanges of finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

distal peripheral sensory neuropathy Gene Set

From HPO Gene-Disease Associations

genes associated with the distal peripheral sensory neuropathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

complete duplication of distal phalanx of the thumb Gene Set

From HPO Gene-Disease Associations

genes associated with the complete duplication of distal phalanx of the thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the distal phalanx of finger Gene Set

From HPO Gene-Disease Associations

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

acroosteolysis of distal phalanges (feet) Gene Set

From HPO Gene-Disease Associations

genes associated with the acroosteolysis of distal phalanges (feet) phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

distal tibial bowing Gene Set

From HPO Gene-Disease Associations

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

distal urethral duplication Gene Set

From HPO Gene-Disease Associations

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

distal sensory loss of all modalities Gene Set

From HPO Gene-Disease Associations

genes associated with the distal sensory loss of all modalities phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

enlargement of the distal femoral epiphysis Gene Set

From HPO Gene-Disease Associations

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

distal arthrogryposis Gene Set

From HPO Gene-Disease Associations

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

abnormality of the distal phalanx of the 2nd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the distal phalanx of the 2nd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

distal symphalangism (hands) Gene Set

From HPO Gene-Disease Associations

genes associated with the distal symphalangism (hands) phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

impaired distal proprioception Gene Set

From HPO Gene-Disease Associations

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

absent fourth finger distal interphalangeal crease Gene Set

From HPO Gene-Disease Associations

genes associated with the absent fourth finger distal interphalangeal crease phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Distal-less-like homeobox protein, N-terminal domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Distal-less-like homeobox protein, N-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

dilated distal convoluted tubules Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the dilated distal convoluted tubules phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal distal convoluted tubule morphology Gene Set

From MPO Gene-Phenotype Associations

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

abnormal distal visceral endoderm morphology Gene Set

From MPO Gene-Phenotype Associations

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

abnormal proximal-distal axis patterning Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal proximal-distal axis patterning phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

absent distal visceral endoderm Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the absent distal visceral endoderm phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

chromosome 7q11.23 deletion syndrome, distal, 1.2mb Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 7q11.23 deletion syndrome, distal, 1.2mb phenotype from the curated OMIM Gene-Disease Associations dataset.

neuronopathy, distal hereditary motor, type vi Gene Set

From OMIM Gene-Disease Associations

genes associated with the neuronopathy, distal hereditary motor, type vi phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, distal, 4 Gene Set

From OMIM Gene-Disease Associations

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

neuronopathy, distal hereditary motor, type vb Gene Set

From OMIM Gene-Disease Associations

genes associated with the neuronopathy, distal hereditary motor, type vb phenotype from the curated OMIM Gene-Disease Associations dataset.

neuronopathy, distal hereditary motor, type viia Gene Set

From OMIM Gene-Disease Associations

genes associated with the neuronopathy, distal hereditary motor, type viia phenotype from the curated OMIM Gene-Disease Associations dataset.

arthrogryposis, distal, type 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the arthrogryposis, distal, type 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

arthrogryposis, distal, type 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the arthrogryposis, distal, type 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

neuronopathy, distal hereditary motor, type iid Gene Set

From OMIM Gene-Disease Associations

genes associated with the neuronopathy, distal hereditary motor, type iid phenotype from the curated OMIM Gene-Disease Associations dataset.

arthyrgryposis, distal, type 2b Gene Set

From OMIM Gene-Disease Associations

genes associated with the arthyrgryposis, distal, type 2b phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 22q11.2 deletion syndrome, distal Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 22q11.2 deletion syndrome, distal phenotype from the curated OMIM Gene-Disease Associations dataset.

neuropathy, distal hereditary motor, jerash type Gene Set

From OMIM Gene-Disease Associations

genes associated with the neuropathy, distal hereditary motor, jerash type phenotype from the curated OMIM Gene-Disease Associations dataset.

arthrogryposis, distal, type 2b Gene Set

From OMIM Gene-Disease Associations

genes associated with the arthrogryposis, distal, type 2b phenotype from the curated OMIM Gene-Disease Associations dataset.

arthrogryposis, distal, type 2a Gene Set

From OMIM Gene-Disease Associations

genes associated with the arthrogryposis, distal, type 2a phenotype from the curated OMIM Gene-Disease Associations dataset.

welander distal myopathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the welander distal myopathy phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, distal 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, distal 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

laing distal myopathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the laing distal myopathy phenotype from the curated OMIM Gene-Disease Associations dataset.

?neuronopathy, distal hereditary motor, type iic Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?neuronopathy, distal hereditary motor, type iic phenotype from the curated OMIM Gene-Disease Associations dataset.

neuropathy, distal hereditary motor, type va Gene Set

From OMIM Gene-Disease Associations

genes associated with the neuropathy, distal hereditary motor, type va phenotype from the curated OMIM Gene-Disease Associations dataset.

arthrogryposis multiplex congenita, distal, type 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the arthrogryposis multiplex congenita, distal, type 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

arthrogryposis multiplex congenita, distal, type 2b Gene Set

From OMIM Gene-Disease Associations

genes associated with the arthrogryposis multiplex congenita, distal, type 2b phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, distal, with anterior tibial onset Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, distal, with anterior tibial onset phenotype from the curated OMIM Gene-Disease Associations dataset.

spinal muscular atrophy, distal, x-linked 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the spinal muscular atrophy, distal, x-linked 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

neuropathy, distal hereditary motor, type viib Gene Set

From OMIM Gene-Disease Associations

genes associated with the neuropathy, distal hereditary motor, type viib phenotype from the curated OMIM Gene-Disease Associations dataset.

arthrogryposis, distal, type 1b Gene Set

From OMIM Gene-Disease Associations

genes associated with the arthrogryposis, distal, type 1b phenotype from the curated OMIM Gene-Disease Associations dataset.

spinal muscular atrophy, distal, congenital nonprogressive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spinal muscular atrophy, distal, congenital nonprogressive phenotype from the curated OMIM Gene-Disease Associations dataset.

arthrogryposis, distal, type 5d Gene Set

From OMIM Gene-Disease Associations

genes associated with the arthrogryposis, distal, type 5d phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, distal, tateyama type Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, distal, tateyama type phenotype from the curated OMIM Gene-Disease Associations dataset.

neuropathy, distal hereditary motor, type iib Gene Set

From OMIM Gene-Disease Associations

genes associated with the neuropathy, distal hereditary motor, type iib phenotype from the curated OMIM Gene-Disease Associations dataset.

neuropathy, distal hereditary motor, type iia Gene Set

From OMIM Gene-Disease Associations

genes associated with the neuropathy, distal hereditary motor, type iia phenotype from the curated OMIM Gene-Disease Associations dataset.

distal tip Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

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

distal tip cell Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

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

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.

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.

dominantnegatively Gene Set

From GeneRIF Biological Term Annotations

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

dominantly Gene Set

From GeneRIF Biological Term Annotations

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

dominants Gene Set

From GeneRIF Biological Term Annotations

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

dominantactive Gene Set

From GeneRIF Biological Term Annotations

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

dominantrecessive Gene Set

From GeneRIF Biological Term Annotations

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

dominantpositive Gene Set

From GeneRIF Biological Term Annotations

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

dominantnegative Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term dominantnegative 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.

Short stature, idiopathic, autosomal Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short stature, idiopathic, autosomal phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Methionine adenosyltransferase deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ocular coloboma, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ocular coloboma, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Primary autosomal recessive microcephaly 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Primary autosomal recessive microcephaly 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Primary autosomal recessive microcephaly 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Primary autosomal recessive microcephaly 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Primary autosomal recessive microcephaly 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Primary autosomal recessive microcephaly 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Primary autosomal recessive microcephaly 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Primary autosomal recessive microcephaly 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Primary autosomal recessive microcephaly 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Primary autosomal recessive microcephaly 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly 12, primary, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly 12, primary, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Agammaglobulinemia 2, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 101 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 101 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 103 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 103 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive hypophosphatemic vitamin D refractory rickets Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive hypophosphatemic vitamin D refractory rickets phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia due to protein S deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive cutis laxa type 1B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive cutis laxa type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Auditory neuropathy, autosomal recessive, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Auditory neuropathy, autosomal recessive, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypercholesterolemia, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Woolly hair, autosomal recessive 2, with or without hypotrichosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Woolly hair, autosomal recessive 2, with or without hypotrichosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alport syndrome, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alport syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Mental retardation, autosomal recessive 7 Gene Set

From ClinVar Gene-Phenotype Associations

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

Mental retardation, autosomal recessive 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Ectopia lentis, isolated autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Primary hypertrophic osteoarthropathy, autosomal recessive 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Primary hypertrophic osteoarthropathy, autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive hypophosphatemic bone disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive hypophosphatemic bone disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Inflammatory bowel disease 25, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Inflammatory bowel disease 25, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 30 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 30 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 37 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 37 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 35 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 35 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 39 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 39 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Osteopetrosis, autosomal recessive 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Osteopetrosis, autosomal recessive 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 46, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 46, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 48, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 48, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Tetraamelia, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 25 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 24 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 23 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 23 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 22 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 29 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 29 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 28 Gene Set

From ClinVar Gene-Phenotype Associations

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

Thyroid hormone resistance, generalized, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Primary autosomal recessive microcephaly 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Primary autosomal recessive microcephaly 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Primary autosomal recessive microcephaly 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Primary autosomal recessive microcephaly 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 59 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 59 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lymphoproliferative syndrome, ebv-associated, autosomal, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lymphoproliferative syndrome, ebv-associated, autosomal, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Heterotaxy, visceral, 4, autosomal Gene Set

From ClinVar Gene-Phenotype Associations

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

Myoglobinuria, acute recurrent, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myoglobinuria, acute recurrent, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Gene Set

From ClinVar Gene-Phenotype Associations

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

Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spinocerebellar ataxia autosomal recessive 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spinocerebellar ataxia autosomal recessive 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Parkinson disease 6, autosomal recessive early-onset Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Parkinson disease 6, autosomal recessive early-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

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

From ClinVar Gene-Phenotype Associations

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

Cataract, autosomal recessive congenital 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Amyotrophic lateral sclerosis 1, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Amyotrophic lateral sclerosis 1, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia 3, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Hydrocephalus, nonsyndromic, autosomal recessive 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Spastic paraplegia 54, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 54, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ataxia, spastic, 4, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ataxia, spastic, 4, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly 10, primary, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly 10, primary, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Heterotopia, periventricular, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Heterotopia, periventricular, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

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

From ClinVar Gene-Phenotype Associations

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

Persistent hyperplastic primary vitreous, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Persistent hyperplastic primary vitreous, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 11, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 11, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 57, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 57, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spinocerebellar ataxia, autosomal recessive 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spinocerebellar ataxia, autosomal recessive 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 102 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 102 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Heterotaxy, visceral, 2, autosomal Gene Set

From ClinVar Gene-Phenotype Associations

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

Spastic paraplegia 72, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Segawa syndrome, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Segawa syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopia 23, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopia 23, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Klippel-Feil syndrome 2, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Klippel-Feil syndrome 2, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive hypohidrotic ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spinocerebellar ataxia, autosomal recessive 15 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spinocerebellar ataxia, autosomal recessive 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spinocerebellar ataxia, autosomal recessive 12 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spinocerebellar ataxia, autosomal recessive 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spinocerebellar ataxia, autosomal recessive 11 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spinocerebellar ataxia, autosomal recessive 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spinocerebellar ataxia, autosomal recessive 10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spinocerebellar ataxia, autosomal recessive 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 44, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 44, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic ataxia 5, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic ataxia 5, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Indifference to pain, congenital, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Retinal degeneration, autosomal recessive, clumped pigment type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Retinal degeneration, autosomal recessive, clumped pigment type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Amyotrophic lateral sclerosis 6, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Amyotrophic lateral sclerosis 6, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epidermolysis bullosa simplex, autosomal recessive 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epidermolysis bullosa simplex, autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 18b Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 18b phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 55, autosomal recessive Gene Set