Name

progressive external ophthalmoplegia, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

chronic progressive external ophthalmoplegia; ophthalmoplegia, chronic progressive external; pof - premature ovarian failure; primary ovarian insufficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic progressive external ophthalmoplegia; ophthalmoplegia, chronic progressive external; pof - premature ovarian failure; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

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.

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.

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.

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.

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.

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.

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.

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.

Cerebellar ataxia infantile with progressive external ophthalmoplegia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia infantile with progressive external ophthalmoplegia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ophthalmoplegia, Chronic Progressive External Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ophthalmoplegia, Chronic Progressive External from the curated CTD Gene-Disease Associations dataset.

chronic progressive external ophthalmoplegia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease chronic progressive external ophthalmoplegia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

chronic progressive external ophthalmoplegia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ophthalmoplegia, chronic progressive external Gene Set

From GAD Gene-Disease Associations

genes associated with the disease ophthalmoplegia, chronic progressive external in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

progressive external ophthalmoplegia Gene Set

From GAD Gene-Disease Associations

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

progressive external ophthalmoplegia Gene Set

From HPO Gene-Disease Associations

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

Ophthalmoplegia, Chronic Progressive External Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Ophthalmoplegia, Chronic Progressive External phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

progressive external ophthalmoplegia with mitochondrial dna deletions 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the progressive external ophthalmoplegia with mitochondrial dna deletions 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

Minicore myopathy with external ophthalmoplegia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Minicore myopathy with external ophthalmoplegia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Minicore Myopathy with External Ophthalmoplegia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Minicore Myopathy with External Ophthalmoplegia from the curated CTD Gene-Disease Associations dataset.

Ophthalmoplegia, External, and Myopia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ophthalmoplegia, External, and Myopia from the curated CTD Gene-Disease Associations dataset.

nonprogressive restrictive external ophthalmoplegia Gene Set

From HPO Gene-Disease Associations

genes associated with the nonprogressive restrictive external ophthalmoplegia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

external ophthalmoplegia Gene Set

From HPO Gene-Disease Associations

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

restrictive external ophthalmoplegia Gene Set

From HPO Gene-Disease Associations

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

minicore myopathy with external ophthalmoplegia Gene Set

From OMIM Gene-Disease Associations

genes associated with the minicore myopathy with external ophthalmoplegia phenotype from the curated OMIM Gene-Disease Associations dataset.

progressive ophthalmoplegia Gene Set

From HPO Gene-Disease Associations

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

frontotemporal dementia; movement disorders; progressive supranuclear palsy; supranuclear palsy, progressive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease frontotemporal dementia; movement disorders; progressive supranuclear palsy; supranuclear palsy, progressive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

basal ganglia diseases; frontotemporal dementia; progressive supranuclear palsy; supranuclear palsy, progressive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease basal ganglia diseases; frontotemporal dementia; progressive supranuclear palsy; supranuclear palsy, progressive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Ophthalmoplegia Gene Set

From CTD Gene-Disease Associations

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

internuclear ophthalmoplegia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

exophthalmic ophthalmoplegia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ophthalmoplegia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

ophthalmoplegia Gene Set

From GeneRIF Biological Term Annotations

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

ophthalmoplegia Gene Set

From HPO Gene-Disease Associations

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

supranuclear ophthalmoplegia Gene Set

From HPO Gene-Disease Associations

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

Ophthalmoplegia Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Ophthalmoplegia phenotype by text-mining GWAS publications from the HuGE Navigator 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.

Nemaline myopathy 3, autosomal dominant or recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Ectopia lentis, isolated autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Primary hypertrophic osteoarthropathy, autosomal recessive 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive hypophosphatemic bone disease Gene Set

From ClinVar Gene-Phenotype Associations

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

Inflammatory bowel disease 25, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 30 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 37 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 35 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 39 Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Osteopetrosis, autosomal recessive 8 Gene Set

From ClinVar Gene-Phenotype Associations

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

Spastic paraplegia 46, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Spastic paraplegia 48, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Tetraamelia, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 25 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 24 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 23 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 22 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 29 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 28 Gene Set

From ClinVar Gene-Phenotype Associations

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

Thyroid hormone resistance, generalized, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Primary autosomal recessive microcephaly 7 Gene Set

From ClinVar Gene-Phenotype Associations

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

Primary autosomal recessive microcephaly 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 59 Gene Set

From ClinVar Gene-Phenotype Associations

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

Myoglobinuria, acute recurrent, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Gene Set

From ClinVar Gene-Phenotype Associations

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

Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Spinocerebellar ataxia autosomal recessive 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Parkinson disease 6, autosomal recessive early-onset Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Cataract, autosomal recessive congenital 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Amyotrophic lateral sclerosis 1, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Severe congenital neutropenia 3, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Hydrocephalus, nonsyndromic, autosomal recessive 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Renal tubular acidosis, distal, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Spastic paraplegia 54, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Ataxia, spastic, 4, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Microcephaly 10, primary, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Heterotopia, periventricular, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Persistent hyperplastic primary vitreous, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant Gene Set

From ClinVar Gene-Phenotype Associations

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

Spastic paraplegia 11, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Spastic paraplegia 57, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Spinocerebellar ataxia, autosomal recessive 7 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 102 Gene Set

From ClinVar Gene-Phenotype Associations

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

Spastic paraplegia 72, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Segawa syndrome, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Myopia 23, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Klippel-Feil syndrome 2, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 8 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 9 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 7 Gene Set

From ClinVar Gene-Phenotype Associations

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

Spinocerebellar ataxia, autosomal recessive 15 Gene Set

From ClinVar Gene-Phenotype Associations

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

Spinocerebellar ataxia, autosomal recessive 12 Gene Set

From ClinVar Gene-Phenotype Associations

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

Spinocerebellar ataxia, autosomal recessive 11 Gene Set

From ClinVar Gene-Phenotype Associations

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

Spinocerebellar ataxia, autosomal recessive 10 Gene Set

From ClinVar Gene-Phenotype Associations

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

Spastic paraplegia 44, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Spastic ataxia 5, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Indifference to pain, congenital, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Retinal degeneration, autosomal recessive, clumped pigment type Gene Set

From ClinVar Gene-Phenotype Associations

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

Amyotrophic lateral sclerosis 6, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Epidermolysis bullosa simplex, autosomal recessive 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 18b Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Spastic paraplegia 55, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 55, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive congenital ichthyosis 9 Gene Set

From ClinVar Gene-Phenotype Associations

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

Sick sinus syndrome 1, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sick sinus syndrome 1, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 18 Gene Set

From ClinVar Gene-Phenotype Associations

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

Spastic paraplegia 63, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 63, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 27 Gene Set

From ClinVar Gene-Phenotype Associations

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

Nemaline myopathy 2, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Congenital myotonia, autosomal recessive form Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 91 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 91 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia 6, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 84b Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 84b phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract, congenital nuclear, autosomal recessive 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Cataract, congenital nuclear, autosomal recessive 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Polymicrogyria, bilateral perisylvian, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Spinocerebellar ataxia autosomal recessive with axonal neuropathy Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive Dejerine-Sottas syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive Dejerine-Sottas syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 39 Gene Set

From ClinVar Gene-Phenotype Associations

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

Glut1 deficiency syndrome 1, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glut1 deficiency syndrome 1, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 86 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 86 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 81 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 81 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Oculodentodigital dysplasia, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 89 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 89 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 88 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 88 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 48 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Monocyte and dendritic cell deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Monocyte and dendritic cell deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spinocerebellar ataxia, autosomal recessive 14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spinocerebellar ataxia, autosomal recessive 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spinocerebellar ataxia, autosomal recessive 9 Gene Set

From ClinVar Gene-Phenotype Associations

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

Spinocerebellar ataxia, autosomal recessive 8 Gene Set

From ClinVar Gene-Phenotype Associations

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

Pseudohypoaldosteronism type 1 autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Mental retardation, autosomal recessive 38 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 38 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sclerocornea, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Spastic paraplegia 56, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 56, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 34 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 34 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 53 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 53 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 30, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Epidermolysis bullosa dystrophica inversa, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Microcephaly and chorioretinopathy, autosomal recessive, 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Dyskeratosis congenita, autosomal recessive, 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Agammaglobulinemia 6, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Agammaglobulinemia 7, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Mental retardation, autosomal recessive 13 Gene Set

From ClinVar Gene-Phenotype Associations

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

Mental retardation, autosomal recessive 12 Gene Set

From ClinVar Gene-Phenotype Associations

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

Mental retardation, autosomal recessive 14 Gene Set

From ClinVar Gene-Phenotype Associations

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

Ataxia, spastic, 2, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Spinocerebellar ataxia autosomal recessive 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 42 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 42 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 44 Gene Set

From ClinVar Gene-Phenotype Associations

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

Severe congenital neutropenia 4, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Spastic paraplegia 45, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 45, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 31 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 31 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mycobacterial and viral infections, susceptibility to, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mycobacterial and viral infections, susceptibility to, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 47 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 47 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Osteopetrosis autosomal recessive 7 Gene Set

From ClinVar Gene-Phenotype Associations

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

Osteopetrosis autosomal recessive 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

Osteopetrosis autosomal recessive 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Osteopetrosis autosomal recessive 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Osteopetrosis autosomal recessive 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 76 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 76 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 77 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 77 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 74 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 74 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 70 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 70 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 79 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 79 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive cutis laxa type 2B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive cutis laxa type 2B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive cutis laxa type IA Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive centronuclear myopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive centronuclear myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive congenital ichthyosis 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive congenital ichthyosis 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive congenital ichthyosis 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive congenital ichthyosis 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive congenital ichthyosis 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 18 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 61 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 61 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 63 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 63 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 67 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 67 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

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

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive congenital ichthyosis 4A Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive congenital ichthyosis 4B Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive cutis laxa type 3B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive cutis laxa type 3B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly 11, primary, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Microcephaly with chorioretinopathy, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Robinow syndrome, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 40 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 40 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 41 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 41 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 42 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 42 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 43 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 43 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 44 Gene Set

From ClinVar Gene-Phenotype Associations

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

Mental retardation, autosomal recessive 45 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 45 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 46 Gene Set

From ClinVar Gene-Phenotype Associations

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

Bestrophinopathy, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Microcephaly 9, primary, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Distal spinal muscular atrophy, autosomal recessive 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

Hypophosphatemic rickets, autosomal recessive, 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 15 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 16 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 12 Gene Set

From ClinVar Gene-Phenotype Associations

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

Microcephaly 13, primary, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly 13, primary, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 1A Gene Set

From ClinVar Gene-Phenotype Associations

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

Spastic paraplegia 20, autosomal recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic paraplegia 20, autosomal recessive from the curated CTD Gene-Disease Associations dataset.

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

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 1b Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 32 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 32 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 1A Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 14 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 14 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 16 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 17 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 17 from the curated CTD Gene-Disease Associations dataset.

Spastic Paraplegia 32, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic Paraplegia 32, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Osteopetrosis, Autosomal Recessive 1 Gene Set

From CTD Gene-Disease Associations

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

Osteopetrosis, Autosomal Recessive 7 Gene Set

From CTD Gene-Disease Associations

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

Osteopetrosis, Autosomal Recessive 5 Gene Set

From CTD Gene-Disease Associations

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

Osteopetrosis, Autosomal Recessive 4 Gene Set

From CTD Gene-Disease Associations

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

DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT from the curated CTD Gene-Disease Associations dataset.

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 from the curated CTD Gene-Disease Associations dataset.

Heterotopia, Periventricular, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Heterotopia, Periventricular, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 from the curated CTD Gene-Disease Associations dataset.

Amyotrophic Lateral Sclerosis 6, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Amyotrophic Lateral Sclerosis 6, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 67 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 67 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 13 Gene Set

From CTD Gene-Disease Associations

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

Ichthyosis with hypotrichosis, autosomal recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ichthyosis with hypotrichosis, autosomal recessive from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Autosomal Recessive 13 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 13 from the curated CTD Gene-Disease Associations dataset.

DEAFNESS, AUTOSOMAL RECESSIVE 91 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 91 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 77 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 77 from the curated CTD Gene-Disease Associations dataset.

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I from the curated CTD Gene-Disease Associations dataset.

DEAFNESS, AUTOSOMAL RECESSIVE 85 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 85 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 79 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 79 from the curated CTD Gene-Disease Associations dataset.

Osteopetrosis, Autosomal Recessive 6 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 33 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 33 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 31 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 37 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 37 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 35 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 35 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 38 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 38 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 39 Gene Set

From CTD Gene-Disease Associations

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

Sick Sinus Syndrome 1, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Sick Sinus Syndrome 1, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive from the curated CTD Gene-Disease Associations dataset.

DEAFNESS, AUTOSOMAL RECESSIVE 83 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 83 from the curated CTD Gene-Disease Associations dataset.

Ataxia, Spastic, 3, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 40 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 40 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 46 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 46 from the curated CTD Gene-Disease Associations dataset.

Candidiasis familial chronic mucocutaneous, autosomal recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Candidiasis familial chronic mucocutaneous, autosomal recessive from the curated CTD Gene-Disease Associations dataset.

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

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 44 Gene Set

From CTD Gene-Disease Associations

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

Spastic Paraplegia 7, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic Paraplegia 7, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Hypercholesterolemia, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 26 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 26 from the curated CTD Gene-Disease Associations dataset.

Indifference to Pain, Congenital, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

Robinow syndrome, autosomal recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Robinow syndrome, autosomal recessive from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 27 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 27 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 22 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 22 from the curated CTD Gene-Disease Associations dataset.

Inflammatory Bowel Disease 25, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Inflammatory Bowel Disease 25, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative from the curated CTD Gene-Disease Associations dataset.

DEAFNESS, AUTOSOMAL RECESSIVE 8 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 8 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 62 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 62 from the curated CTD Gene-Disease Associations dataset.

PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Dystonia 17, Torsion, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Dystonia 17, Torsion, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 11, autosomal recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic paraplegia 11, autosomal recessive from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive, 24 Gene Set

From CTD Gene-Disease Associations

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

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Polycystic Kidney, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

Spinocerebellar Ataxia, Autosomal Recessive 9 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinocerebellar Ataxia, Autosomal Recessive 9 from the curated CTD Gene-Disease Associations dataset.

Spinocerebellar Ataxia, Autosomal Recessive 8 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinocerebellar Ataxia, Autosomal Recessive 8 from the curated CTD Gene-Disease Associations dataset.

SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Renal tubular acidosis, distal, autosomal recessive Gene Set

From CTD Gene-Disease Associations

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

Spastic Paraplegia 44, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic Paraplegia 44, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 25, autosomal recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic paraplegia 25, autosomal recessive from the curated CTD Gene-Disease Associations dataset.

Myopathy, Hyaline Body, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Thyroid Hormone Resistance, Generalized, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

Cutis Laxa, Autosomal Recessive, Type IIA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cutis Laxa, Autosomal Recessive, Type IIA from the curated CTD Gene-Disease Associations dataset.

Cutis Laxa, Autosomal Recessive, Type IIB Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cutis Laxa, Autosomal Recessive, Type IIB from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 15, autosomal recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic paraplegia 15, autosomal recessive from the curated CTD Gene-Disease Associations dataset.

Cerebral Palsy, Ataxic, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cerebral Palsy, Ataxic, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy Gene Set

From CTD Gene-Disease Associations

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

DEAFNESS, AUTOSOMAL RECESSIVE 18A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 18A from the curated CTD Gene-Disease Associations dataset.

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II from the curated CTD Gene-Disease Associations dataset.

DEAFNESS, AUTOSOMAL RECESSIVE 74 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 74 from the curated CTD Gene-Disease Associations dataset.

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

From CTD Gene-Disease Associations

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

Spastic Paraplegia 39, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic Paraplegia 39, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 30 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 28 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 59 Gene Set

From CTD Gene-Disease Associations

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

Spastic Paraplegia-50, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic Paraplegia-50, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

DEAFNESS, AUTOSOMAL RECESSIVE 84A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 84A from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Autosomal Recessive 9 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 9 from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 14, autosomal recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic paraplegia 14, autosomal recessive from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Autosomal Recessive 3 Gene Set

From CTD Gene-Disease Associations

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

Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 Gene Set

From CTD Gene-Disease Associations

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

Mental Retardation, Autosomal Recessive 4 Gene Set

From CTD Gene-Disease Associations

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

DEAFNESS, AUTOSOMAL RECESSIVE 25 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 25 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Autosomal Recessive 11 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 11 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Autosomal Recessive 10 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 10 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Autosomal Recessive 8 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 8 from the curated CTD Gene-Disease Associations dataset.

Parkinson Disease 6, Autosomal Recessive Early-Onset Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Parkinson Disease 6, Autosomal Recessive Early-Onset from the curated CTD Gene-Disease Associations dataset.

Cataract, Autosomal Recessive Congenital 3 Gene Set

From CTD Gene-Disease Associations

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

Microcephaly, Primary Autosomal Recessive, 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microcephaly, Primary Autosomal Recessive, 5 from the curated CTD Gene-Disease Associations dataset.

Spinocerebellar ataxia, autosomal recessive 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinocerebellar ataxia, autosomal recessive 3 from the curated CTD Gene-Disease Associations dataset.

Hypophosphatemic Rickets, Autosomal Recessive, 2 Gene Set

From CTD Gene-Disease Associations

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

Hypophosphatemic Rickets, Autosomal Recessive, 1 Gene Set

From CTD Gene-Disease Associations

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

Microcephaly, Primary Autosomal Recessive, 4 Gene Set

From CTD Gene-Disease Associations

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

Microcephaly, Primary Autosomal Recessive, 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microcephaly, Primary Autosomal Recessive, 6 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 2 Gene Set

From CTD Gene-Disease Associations

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

Mental Retardation, Autosomal Recessive 2 Gene Set

From CTD Gene-Disease Associations

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

Mental Retardation, Autosomal Recessive 7 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 7 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Autosomal Recessive 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 6 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 5 Gene Set

From CTD Gene-Disease Associations

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

Cataract, Autosomal Recessive, Early-Onset, Pulverulent Gene Set

From CTD Gene-Disease Associations

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

SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Microcephaly, Primary Autosomal Recessive, 7 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microcephaly, Primary Autosomal Recessive, 7 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 21 Gene Set

From CTD Gene-Disease Associations

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

Colorectal Adenomatous Polyposis, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Colorectal Adenomatous Polyposis, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

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

Inflammatory Bowel Disease 28, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Inflammatory Bowel Disease 28, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

DEAFNESS, AUTOSOMAL RECESSIVE 45 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 45 from the curated CTD Gene-Disease Associations dataset.

Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Spinocerebellar ataxia, autosomal recessive 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinocerebellar ataxia, autosomal recessive 4 from the curated CTD Gene-Disease Associations dataset.

Spinocerebellar ataxia, autosomal recessive 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinocerebellar ataxia, autosomal recessive 1 from the curated CTD Gene-Disease Associations dataset.

Myosclerosis, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

Microcephaly, Primary Autosomal Recessive, 3 Gene Set

From CTD Gene-Disease Associations

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

Deafness, autosomal recessive 51 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, autosomal recessive 51 from the curated CTD Gene-Disease Associations dataset.

Microcephaly, Primary Autosomal Recessive, 1 Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Spinocerebellar ataxia, autosomal recessive 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinocerebellar ataxia, autosomal recessive 6 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 12 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 68 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 68 from the curated CTD Gene-Disease Associations dataset.

Spinocerebellar ataxia, autosomal recessive 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinocerebellar ataxia, autosomal recessive 5 from the curated CTD Gene-Disease Associations dataset.

THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 65 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 65 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 9 Gene Set

From CTD Gene-Disease Associations

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

Dyskeratosis Congenita, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

Tetra-amelia autosomal recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Tetra-amelia autosomal recessive from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 3 Gene Set

From CTD Gene-Disease Associations

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

Mental Retardation, Autosomal Recessive 1 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 53 Gene Set

From CTD Gene-Disease Associations

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

Spinocerebellar Ataxia, Autosomal Recessive 2 Gene Set

From CTD Gene-Disease Associations

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

Epidermolysis Bullosa Simplex, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epidermolysis Bullosa Simplex, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT from the curated CTD Gene-Disease Associations dataset.

Myoglobinuria, Acute Recurrent, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myoglobinuria, Acute Recurrent, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 47 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 49 Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

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

Spastic Paraplegia 27, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic Paraplegia 27, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Cataract, Congenital Nuclear, Autosomal Recessive 1 Gene Set

From CTD Gene-Disease Associations

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

SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA Gene Set

From CTD Gene-Disease Associations

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

Oculodentodigital Dysplasia, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 42 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 42 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 71 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 71 from the curated CTD Gene-Disease Associations dataset.

Deafness, autosomal recessive 55 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, autosomal recessive 55 from the curated CTD Gene-Disease Associations dataset.

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

From CTD Gene-Disease Associations

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

Cataract, Congenital Nuclear, Autosomal Recessive 3 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 20 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 23 Gene Set

From CTD Gene-Disease Associations

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

Inclusion body myopathy autosomal recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Inclusion body myopathy autosomal recessive from the curated CTD Gene-Disease Associations dataset.

Cataract, Congenital Nuclear, Autosomal Recessive 2 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 6 Gene Set

From CTD Gene-Disease Associations

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

Segawa syndrome, autosomal recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Segawa syndrome, autosomal recessive from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 63 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 63 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 66 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 66 from the curated CTD Gene-Disease Associations dataset.

Spastic Paraplegia 18, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic Paraplegia 18, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 7 Gene Set

From CTD Gene-Disease Associations

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

Parkinson Disease 7, Autosomal Recessive Early-Onset Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Parkinson Disease 7, Autosomal Recessive Early-Onset from the curated CTD Gene-Disease Associations dataset.

Neutropenia, Severe Congenital, Autosomal Recessive 3 Gene Set

From CTD Gene-Disease Associations

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

Neutropenia, Severe Congenital, Autosomal Recessive 4 Gene Set

From CTD Gene-Disease Associations

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

SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

autosomal recessive disease Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

autosomal recessive disease Gene Set

From DISEASES Experimental Gene-Disease Assocation Evidence Scores

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

autosomal recessive nonsyndromic deafness Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

autosomal recessive disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

autosomal recessive charcot-marie-tooth disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease autosomal recessive charcot-marie-tooth disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

autosomal recessive disease Gene Set

From GWASdb SNP-Disease Associations

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

autosomal recessive inheritance Gene Set

From HPO Gene-Disease Associations

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

Polycystic Kidney, Autosomal Recessive Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

mental retardation, autosomal recessive, 9/26 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive, 9/26 phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

genes associated with the exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like phenotype from the curated OMIM Gene-Disease Associations dataset.

scid, autosomal recessive, t-negative/b-positive type Gene Set

From OMIM Gene-Disease Associations

genes associated with the scid, autosomal recessive, t-negative/b-positive type phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 28 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 29 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 23 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 27 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 24 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 25 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 25 phenotype from the curated OMIM Gene-Disease Associations dataset.

spondylocostal dysostosis 1, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

spastic paraplegia 5a, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 5a, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 74 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 74 phenotype from the curated OMIM Gene-Disease Associations dataset.

spondylocostal dysostosis 2, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

?spinocerebellar ataxia, autosomal recessive 15 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?spinocerebellar ataxia, autosomal recessive 15 phenotype from the curated OMIM Gene-Disease Associations dataset.

?spinocerebellar ataxia, autosomal recessive 17 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?spinocerebellar ataxia, autosomal recessive 17 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 18a Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 18b Gene Set

From OMIM Gene-Disease Associations

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

epidermolysis bullosa, nonspecific, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the epidermolysis bullosa, nonspecific, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to protein s deficiency, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

?microcephaly 11, primary, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?microcephaly 11, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 18, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 18, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 40 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 40 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 44 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 44 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 46 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 46 phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

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

hydrocephalus, nonsyndromic, autosomal recessive 2 Gene Set

From OMIM Gene-Disease Associations

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

spastic paraplegia 32, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 32, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 51 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 51 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 53 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 55 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 55 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 59 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 5 Gene Set

From OMIM Gene-Disease Associations

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

microcephaly 2, primary, autosomal recessive, with or without cortical malformations Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly 2, primary, autosomal recessive, with or without cortical malformations phenotype from the curated OMIM Gene-Disease Associations dataset.

neuromyotonia and axonal neuropathy, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the neuromyotonia and axonal neuropathy, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 53, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 53, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

ectopia lentis, isolated, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectopia lentis, isolated, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

heterotaxy, visceral, 6, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

cataract 22, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

microcephaly 5, primary, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 4, with enlarged vestibular aqueduct Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 4, with enlarged vestibular aqueduct phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic ataxia 2, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

spastic ataxia 3, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 76 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 76 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 77 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 77 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 70 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 70 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 71 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 71 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 79 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 79 phenotype from the curated OMIM Gene-Disease Associations dataset.

retinitis pigmentosa, juvenile, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

protoporphyria, erythropoietic, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the protoporphyria, erythropoietic, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 1a Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 1b Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 14 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 14 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 15 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 16 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 17 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 12 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 13 Gene Set

From OMIM Gene-Disease Associations

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

immunodeficiency 31b, mycobacterial and viral infections, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency 31b, mycobacterial and viral infections, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to protein c deficiency, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

spastic paraplegia 30, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 30, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 85 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 85 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopia 23, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

?spastic paraplegia 43, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?spastic paraplegia 43, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 32 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 32 phenotype from the curated OMIM Gene-Disease Associations dataset.

hydrocephalus, nonsyndromic, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the hydrocephalus, nonsyndromic, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 45, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 45, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 33 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 30 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 31 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 36 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 37 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 35 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 35 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 38 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 38 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 39 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 39 phenotype from the curated OMIM Gene-Disease Associations dataset.

ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 25, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 25, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

?deafness, autosomal recessive 91 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?deafness, autosomal recessive 91 phenotype from the curated OMIM Gene-Disease Associations dataset.

inclusion body myopathy, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the inclusion body myopathy, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 39, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 39, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive, 4 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive, 6 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive, 8 Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

spinocerebellar ataxia, autosomal recessive 7 Gene Set

From OMIM Gene-Disease Associations

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

spinocerebellar ataxia, autosomal recessive 3 Gene Set

From OMIM Gene-Disease Associations

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

spinocerebellar ataxia, autosomal recessive 2 Gene Set

From OMIM Gene-Disease Associations

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

spinocerebellar ataxia, autosomal recessive 8 Gene Set

From OMIM Gene-Disease Associations

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

spastic paraplegia 55, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 55, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spinal muscular atrophy, chronic distal, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 30 Gene Set

From OMIM Gene-Disease Associations

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

spastic paraplegia 24, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 24, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

neutropenia, severe congenital 3, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

immunodeficiency 32b, monocyte and dendritic cell deficiency, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency 32b, monocyte and dendritic cell deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 28, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 28, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

nemaline myopathy 1, autosomal dominant or recessive Gene Set

From OMIM Gene-Disease Associations

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

{dyskeratosis congenita, autosomal recessive 4} Gene Set

From OMIM Gene-Disease Associations

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

microcephaly 9, primary, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 3 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 2 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 7 Gene Set

From OMIM Gene-Disease Associations

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

hypercholesterolemia, familial, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypercholesterolemia, familial, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

nemaline myopathy 8, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii Gene Set

From OMIM Gene-Disease Associations

genes associated with the granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 11, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

spinocrebellar ataxia, autosomal recessive 12 Gene Set

From OMIM Gene-Disease Associations

genes associated with the spinocrebellar ataxia, autosomal recessive 12 phenotype from the curated OMIM Gene-Disease Associations dataset.

inflammatory bowel disease 25, early onset, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the inflammatory bowel disease 25, early onset, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

methionine adenosyltransferase deficiency, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the methionine adenosyltransferase deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

?coloboma, ocular, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?coloboma, ocular, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 84a Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 84a phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 84b Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 84b phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 96 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 96 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 93 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 93 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 98 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 98 phenotype from the curated OMIM Gene-Disease Associations dataset.

amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia Gene Set

From OMIM Gene-Disease Associations

genes associated with the amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia phenotype from the curated OMIM Gene-Disease Associations dataset.

hypertrophic osteoarthropathy, primary, autosomal recessive 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypertrophic osteoarthropathy, primary, autosomal recessive 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

hypertrophic osteoarthropathy, primary, autosomal recessive 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypertrophic osteoarthropathy, primary, autosomal recessive 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 10/20 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 10/20 phenotype from the curated OMIM Gene-Disease Associations dataset.

alport syndrome, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

dyskeratosis congenita, autosomal recessive 1 Gene Set

From OMIM Gene-Disease Associations

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

dyskeratosis congenita, autosomal recessive 2 Gene Set

From OMIM Gene-Disease Associations

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

dyskeratosis congenita, autosomal recessive 3 Gene Set

From OMIM Gene-Disease Associations

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

dyskeratosis congenita, autosomal recessive 5 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 8/10 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 8/10 phenotype from the curated OMIM Gene-Disease Associations dataset.

bestrophinopathy, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

spastic paraplegia 46, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 46, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

{epidermolysis bullosa dystrophica, autosomal recessive, modifier of} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {epidermolysis bullosa dystrophica, autosomal recessive, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

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

spastic paraplegia 26, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 26, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 51, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 51, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From OMIM Gene-Disease Associations

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

microcephaly 6, primary, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

craniometaphyseal dysplasia, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

hsan2d, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the hsan2d, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

cutis laxa, autosomal recessive, type ia Gene Set

From OMIM Gene-Disease Associations

genes associated with the cutis laxa, autosomal recessive, type ia phenotype from the curated OMIM Gene-Disease Associations dataset.

cutis laxa, autosomal recessive, type ib Gene Set

From OMIM Gene-Disease Associations

genes associated with the cutis laxa, autosomal recessive, type ib phenotype from the curated OMIM Gene-Disease Associations dataset.

colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas Gene Set

From OMIM Gene-Disease Associations

genes associated with the colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas phenotype from the curated OMIM Gene-Disease Associations dataset.

?deafness, autosomal recessive 103 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?deafness, autosomal recessive 103 phenotype from the curated OMIM Gene-Disease Associations dataset.

?deafness, autosomal recessive 102 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?deafness, autosomal recessive 102 phenotype from the curated OMIM Gene-Disease Associations dataset.

?deafness, autosomal recessive 101 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?deafness, autosomal recessive 101 phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 47, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 47, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

hypoparathyroidism, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

microcephaly 1, primary, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

retinitis pigmentosa-12, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the retinitis pigmentosa-12, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

?microcephaly 8, primary, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?microcephaly 8, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spinocerebellar ataxia, autosomal recessive 16 Gene Set

From OMIM Gene-Disease Associations

genes associated with the spinocerebellar ataxia, autosomal recessive 16 phenotype from the curated OMIM Gene-Disease Associations dataset.

spinocerebellar ataxia, autosomal recessive 14 Gene Set

From OMIM Gene-Disease Associations

genes associated with the spinocerebellar ataxia, autosomal recessive 14 phenotype from the curated OMIM Gene-Disease Associations dataset.

spinocerebellar ataxia, autosomal recessive 13 Gene Set

From OMIM Gene-Disease Associations

genes associated with the spinocerebellar ataxia, autosomal recessive 13 phenotype from the curated OMIM Gene-Disease Associations dataset.

spinocerebellar ataxia, autosomal recessive 11 Gene Set

From OMIM Gene-Disease Associations

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

spinocerebellar ataxia, autosomal recessive 10 Gene Set

From OMIM Gene-Disease Associations

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

ichthyosis, congenital, autosomal recessive 4a Gene Set

From OMIM Gene-Disease Associations

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

woolly hair, autosomal recessive 1, with or without hypotrichosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the woolly hair, autosomal recessive 1, with or without hypotrichosis phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 32 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 32 phenotype from the curated OMIM Gene-Disease Associations dataset.

neutropenia, severe congenital, 6, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

ichthyosis, autosomal recessive 4b (harlequin) Gene Set

From OMIM Gene-Disease Associations

genes associated with the ichthyosis, autosomal recessive 4b (harlequin) phenotype from the curated OMIM Gene-Disease Associations dataset.

hyperekplexia, hereditary 1, autosomal dominant or recessive Gene Set

From OMIM Gene-Disease Associations

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

cutis laxa, autosomal recessive, type iiia Gene Set

From OMIM Gene-Disease Associations

genes associated with the cutis laxa, autosomal recessive, type iiia phenotype from the curated OMIM Gene-Disease Associations dataset.

cutis laxa, autosomal recessive, type iiib Gene Set

From OMIM Gene-Disease Associations

genes associated with the cutis laxa, autosomal recessive, type iiib phenotype from the curated OMIM Gene-Disease Associations dataset.

?mental retardation, autosomal recessive 45 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?mental retardation, autosomal recessive 45 phenotype from the curated OMIM Gene-Disease Associations dataset.

?mental retardation, autosomal recessive 42 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?mental retardation, autosomal recessive 42 phenotype from the curated OMIM Gene-Disease Associations dataset.

?mental retardation, autosomal recessive 43 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?mental retardation, autosomal recessive 43 phenotype from the curated OMIM Gene-Disease Associations dataset.

retinitis pigmentosa 4, autosomal dominant or recessive Gene Set

From OMIM Gene-Disease Associations

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

spastic paraplegia 27, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 27, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

parkinson disease 15, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the parkinson disease 15, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

?anemia, sideroblastic, pyridoxine-refractory, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?anemia, sideroblastic, pyridoxine-refractory, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

{deafness, autosomal recessive 12, modifier of} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {deafness, autosomal recessive 12, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency, primary, autosomal recessive, il21r-related Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency, primary, autosomal recessive, il21r-related phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, centronuclear, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, centronuclear, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 39 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 39 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 38 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 38 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 31 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 33 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 33 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 35 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 35 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 34 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 34 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 36 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 36 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, neurosensory, autosomal recessive 47 Gene Set

From OMIM Gene-Disease Associations

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

spastic paraplegia 52, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 52, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

candidiasis, familial, 5, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 13 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 12 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 16 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 15 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 14 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 19 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 18 Gene Set

From OMIM Gene-Disease Associations

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

candidiasis, familial, 4, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the candidiasis, familial, 4, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

hyper-ige recurrent infection syndrome, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyper-ige recurrent infection syndrome, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

inflammatory bowel disease 28, early onset, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the inflammatory bowel disease 28, early onset, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 14, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 14, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

neutropenia, severe congenital, 5, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 56, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 56, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spinocerebellar ataxia, autosomal recessive 5 Gene Set

From OMIM Gene-Disease Associations

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

microcephaly 3, primary, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

hypophosphatemic rickets, autosomal recessive, 2 Gene Set

From OMIM Gene-Disease Associations

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

cutis laxa, autosomal recessive, type ic Gene Set

From OMIM Gene-Disease Associations

genes associated with the cutis laxa, autosomal recessive, type ic phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 35, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 35, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 42 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 42 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 40 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 46 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 46 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 45 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 45 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 44 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 48 Gene Set

From OMIM Gene-Disease Associations

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

corneal endothelial dystrophy 2, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the corneal endothelial dystrophy 2, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

?deafness, autosomal recessive 44 Gene Set

From OMIM Gene-Disease Associations

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

nemaline myopathy 7, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

cutis laxa, autosomal recessive, type iia Gene Set

From OMIM Gene-Disease Associations

genes associated with the cutis laxa, autosomal recessive, type iia phenotype from the curated OMIM Gene-Disease Associations dataset.

cutis laxa, autosomal recessive, type iib Gene Set

From OMIM Gene-Disease Associations

genes associated with the cutis laxa, autosomal recessive, type iib phenotype from the curated OMIM Gene-Disease Associations dataset.

hyperekplexia 2, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

neutropenia, severe congenital 4, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

renal tubular acidosis, distal, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 68 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 68 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 61 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 61 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 63 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 63 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 62 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 62 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 65 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 67 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 67 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 66 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 66 phenotype from the curated OMIM Gene-Disease Associations dataset.

ichthyosis, congenital, autosomal recessive 5 Gene Set

From OMIM Gene-Disease Associations

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

ichthyosis, congenital, autosomal recessive 6 Gene Set

From OMIM Gene-Disease Associations

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

ichthyosis, congenital, autosomal recessive 7 Gene Set

From OMIM Gene-Disease Associations

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

ichthyosis, congenital, autosomal recessive 1 Gene Set

From OMIM Gene-Disease Associations

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

ichthyosis, congenital, autosomal recessive 2 Gene Set

From OMIM Gene-Disease Associations

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

ichthyosis, congenital, autosomal recessive 3 Gene Set

From OMIM Gene-Disease Associations

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

ichthyosis, congenital, autosomal recessive 8 Gene Set

From OMIM Gene-Disease Associations

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

ichthyosis, congenital, autosomal recessive 9 Gene Set

From OMIM Gene-Disease Associations

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

nemaline myopathy 3, autosomal dominant or recessive Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

spastic paraplegia 50, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 50, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

?deafness, autosomal recessive 88 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?deafness, autosomal recessive 88 phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 44, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 44, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 15, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 15, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 9 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 2 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 3 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 6 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 7 Gene Set

From OMIM Gene-Disease Associations

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

deafness , autosomal recessive 86 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness , autosomal recessive 86 phenotype from the curated OMIM Gene-Disease Associations dataset.

anemia, sideroblastic, pyridoxine-refractory, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the anemia, sideroblastic, pyridoxine-refractory, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 41 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 41 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 25 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 24 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 27 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 26 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 21 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 20 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 23 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 22 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 29 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 29 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 28 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive, 11 Gene Set

From OMIM Gene-Disease Associations

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

myoglobinuria, acute recurrent, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the myoglobinuria, acute recurrent, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 5 Gene Set

From OMIM Gene-Disease Associations

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

cataract 18, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

thyroid hormone resistance, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the thyroid hormone resistance, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

tetra-amelia, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the tetra-amelia, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

factor xi deficiency, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

robinow syndrome, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

retinal degeneration, autosomal recessive, clumped pigment type Gene Set

From OMIM Gene-Disease Associations

genes associated with the retinal degeneration, autosomal recessive, clumped pigment type phenotype from the curated OMIM Gene-Disease Associations dataset.

?spastic paraplegia 72, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

spastic paraplegia 49, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 49, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephaly 4, primary, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly 4, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

parkinson disease 7, autosomal recessive early-onset Gene Set

From OMIM Gene-Disease Associations

genes associated with the parkinson disease 7, autosomal recessive early-onset phenotype from the curated OMIM Gene-Disease Associations dataset.

osteopetrosis, autosomal recessive 2 Gene Set

From OMIM Gene-Disease Associations

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

osteopetrosis, autosomal recessive 1 Gene Set

From OMIM Gene-Disease Associations

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

osteopetrosis, autosomal recessive 7 Gene Set

From OMIM Gene-Disease Associations

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

osteopetrosis, autosomal recessive 6 Gene Set

From OMIM Gene-Disease Associations

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

osteopetrosis, autosomal recessive 5 Gene Set

From OMIM Gene-Disease Associations

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

osteopetrosis, autosomal recessive 4 Gene Set

From OMIM Gene-Disease Associations

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

osteopetrosis, autosomal recessive 8 Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

genes associated with the woolly hair, autosomal recessive 2 with or without hypotrichosis phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 7, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

spondylocostal dysostosis 4, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondylocostal dysostosis 4, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 54, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 54, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 83 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 83 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 89 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 89 phenotype from the curated OMIM Gene-Disease Associations dataset.

corneal clouding, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the corneal clouding, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

ichthyosis, congenital, autosomal recessive 10 Gene Set

From OMIM Gene-Disease Associations

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

ichthyosis, congenital, autosomal recessive 11 Gene Set

From OMIM Gene-Disease Associations

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

?microcephaly 12, primary, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?microcephaly 12, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephaly 7, primary, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

microcephaly and chorioretinopathy, autosomal recessive, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly and chorioretinopathy, autosomal recessive, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephaly and chorioretinopathy, autosomal recessive, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly and chorioretinopathy, autosomal recessive, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

?microcephaly 13, primary, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?microcephaly 13, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

ataxia, spastic, 5, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

?spastic paraplegia 61, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?spastic paraplegia 61, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 48, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 48, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

?spastic paraplegia 57, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?spastic paraplegia 57, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

oculodentodigital dysplasia, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 1 Gene Set

From OMIM Gene-Disease Associations

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

?spondylocostal dysostosis 3, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?spondylocostal dysostosis 3, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

phosphorylase kinase deficiency of liver and muscle, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the phosphorylase kinase deficiency of liver and muscle, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

candidiasis, familial, 2, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 49 Gene Set

From OMIM Gene-Disease Associations

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

macrocephaly/megalencephaly syndrome, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the macrocephaly/megalencephaly syndrome, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

nemaline myopathy 2, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

cataract 38, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the cataract 38, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

?agammaglobulinemia 7, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

?microcephaly 10, primary, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?microcephaly 10, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spinocerebellar ataxia, autosomal recessive with axonal neuropathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the spinocerebellar ataxia, autosomal recessive with axonal neuropathy phenotype from the curated OMIM Gene-Disease Associations dataset.

?mental retardation, autosomal recessive, 37 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?mental retardation, autosomal recessive, 37 phenotype from the curated OMIM Gene-Disease Associations dataset.

persistent hyperplastic primary vitreous, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the persistent hyperplastic primary vitreous, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

auditory neuropathy, autosomal recessive, 1 Gene Set

From OMIM Gene-Disease Associations

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

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

From Reactome Pathways

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

Defective CYP2U1 causes Spastic paraplegia 56, autosomal recessive (SPG56) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP2U1 causes Spastic paraplegia 56, autosomal recessive (SPG56) pathway from the Reactome Pathways dataset.

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

From Reactome Pathways

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

globus pallidus, external segment, right Gene Set

From Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles

genes with high or low expression in globus pallidus, external segment, right relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.

globus pallidus, external segment, left Gene Set

From Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles

genes with high or low expression in globus pallidus, external segment, left relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.

external globus pallidum Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in external globus pallidum relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

r9 part of external cuneate nucleus Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in r9 part of external cuneate nucleus relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

external part of AOD Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in external part of AOD relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

external part of AOV Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in external part of AOV relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

Inferior colliculus, external nucleus Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Inferior colliculus, external nucleus relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

r10 part of external cuneate nucleus Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in r10 part of external cuneate nucleus relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

Parabrachial nucleus, medial division, external medial part Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Parabrachial nucleus, medial division, external medial part relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

external cortical nucleus of inferior colliculus Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in external cortical nucleus of inferior colliculus relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

Anterior olfactory nucleus, external part Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Anterior olfactory nucleus, external part relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

External cuneate nucleus Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in External cuneate nucleus relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

bed nucleus of the external capsule Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in bed nucleus of the external capsule relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

Globus pallidus, external segment Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Globus pallidus, external segment relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

Parabrachial nucleus, lateral division, external lateral part Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Parabrachial nucleus, lateral division, external lateral part relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

external granular (germinal) layer of upper rhombic lip Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in external granular (germinal) layer of upper rhombic lip relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

external granular (germinal) layer of lower rhombic lip Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in external granular (germinal) layer of lower rhombic lip relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

external segment of globus pallidus Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in external segment of globus pallidus relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

extrinsic component of external side of plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the extrinsic component of external side of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

anchored component of external side of plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the anchored component of external side of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

intrinsic component of external side of plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the intrinsic component of external side of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

external side of cell outer membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the external side of cell outer membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

external encapsulating structure Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the external encapsulating structure cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

integral component of external side of plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the integral component of external side of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

external side of plasma membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the external side of plasma membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

external encapsulating structure part Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the external encapsulating structure part cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

external encapsulating structure Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

external side of plasma membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the external side of plasma membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

endospore external encapsulating structure Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the endospore external encapsulating structure cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

external encapsulating structure part Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the external encapsulating structure part cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

Ear, External Gene Set

From dbGAP Gene-Trait Associations

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

external ear cancer Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

external ear disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

external ear carcinoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

external Gene Set

From GeneRIF Biological Term Annotations

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

external genitalia morphogenesis Gene Set

From GO Biological Process Annotations

genes participating in the external genitalia morphogenesis biological process from the curated GO Biological Process Annotations dataset.

external encapsulating structure organization Gene Set

From GO Biological Process Annotations

genes participating in the external encapsulating structure organization biological process from the curated GO Biological Process Annotations dataset.

cell proliferation in external granule layer Gene Set

From GO Biological Process Annotations

genes participating in the cell proliferation in external granule layer biological process from the curated GO Biological Process Annotations dataset.

detection of external stimulus Gene Set

From GO Biological Process Annotations

genes participating in the detection of external stimulus biological process from the curated GO Biological Process Annotations dataset.

negative regulation of response to external stimulus Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of response to external stimulus biological process from the curated GO Biological Process Annotations dataset.

detection of external biotic stimulus Gene Set

From GO Biological Process Annotations

genes participating in the detection of external biotic stimulus biological process from the curated GO Biological Process Annotations dataset.

response to external stimulus Gene Set

From GO Biological Process Annotations

genes participating in the response to external stimulus biological process from the curated GO Biological Process Annotations dataset.

regulation of response to external stimulus Gene Set

From GO Biological Process Annotations

genes participating in the regulation of response to external stimulus biological process from the curated GO Biological Process Annotations dataset.

response to external biotic stimulus Gene Set

From GO Biological Process Annotations

genes participating in the response to external biotic stimulus biological process from the curated GO Biological Process Annotations dataset.

cellular response to external stimulus Gene Set

From GO Biological Process Annotations

genes participating in the cellular response to external stimulus biological process from the curated GO Biological Process Annotations dataset.

positive regulation of response to external stimulus Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of response to external stimulus biological process from the curated GO Biological Process Annotations dataset.

extrinsic component of external side of plasma membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the extrinsic component of external side of plasma membrane cellular component from the curated GO Cellular Component Annotations dataset.

intrinsic component of external side of plasma membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the intrinsic component of external side of plasma membrane cellular component from the curated GO Cellular Component Annotations dataset.

external side of cell outer membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the external side of cell outer membrane cellular component from the curated GO Cellular Component Annotations dataset.

external encapsulating structure Gene Set

From GO Cellular Component Annotations

proteins localized to the external encapsulating structure cellular component from the curated GO Cellular Component Annotations dataset.

integral component of external side of plasma membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the integral component of external side of plasma membrane cellular component from the curated GO Cellular Component Annotations dataset.

anchored component of external side of plasma membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the anchored component of external side of plasma membrane cellular component from the curated GO Cellular Component Annotations dataset.

external side of plasma membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the external side of plasma membrane cellular component from the curated GO Cellular Component Annotations dataset.

external encapsulating structure part Gene Set

From GO Cellular Component Annotations

proteins localized to the external encapsulating structure part cellular component from the curated GO Cellular Component Annotations dataset.

abnormal external genitalia Gene Set

From GWASdb SNP-Phenotype Associations

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

displacement of the external urethral meatus Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the displacement of the external urethral meatus phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

abnormality of male external genitalia Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of male external genitalia phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

hypoplastic male external genitalia Gene Set

From HPO Gene-Disease Associations

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

hypoplastic female external genitalia Gene Set

From HPO Gene-Disease Associations

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

external ear malformation Gene Set

From HPO Gene-Disease Associations

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

absent external genitalia Gene Set

From HPO Gene-Disease Associations

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

abnormal external genitalia Gene Set

From HPO Gene-Disease Associations

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

abnormality of female external genitalia Gene Set

From HPO Gene-Disease Associations

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

gonadal tissue inappropriate for external genitalia or chromosomal sex Gene Set

From HPO Gene-Disease Associations

genes associated with the gonadal tissue inappropriate for external genitalia or chromosomal sex phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

overgrowth of external genitalia Gene Set

From HPO Gene-Disease Associations

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

displacement of the external urethral meatus Gene Set

From HPO Gene-Disease Associations

genes associated with the displacement of the external urethral meatus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

female external genitalia in individual with 46,xy karyotype Gene Set

From HPO Gene-Disease Associations

genes associated with the female external genitalia in individual with 46,xy karyotype phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

external genital hypoplasia Gene Set

From HPO Gene-Disease Associations

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

atresia of the external auditory canal Gene Set

From HPO Gene-Disease Associations

genes associated with the atresia of the external auditory canal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the external nose Gene Set

From HPO Gene-Disease Associations

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

exostosis of the external auditory canal Gene Set

From HPO Gene-Disease Associations

genes associated with the exostosis of the external auditory canal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the external ear Gene Set

From HPO Gene-Disease Associations

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

abnormality of male external genitalia Gene Set

From HPO Gene-Disease Associations

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

stenosis of the external auditory canal Gene Set

From HPO Gene-Disease Associations

genes associated with the stenosis of the external auditory canal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormal external urethral orifice morphology Gene Set

From MPO Gene-Phenotype Associations

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

abnormal cerebellum external granule cell layer morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal cerebellum external granule cell layer morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

absent external male genitalia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the absent external male genitalia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal external nares morphology Gene Set

From MPO Gene-Phenotype Associations

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

abnormal external auditory canal morphology Gene Set

From MPO Gene-Phenotype Associations

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

enlarged external male genitalia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the enlarged external male genitalia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal external carotid artery morphology Gene Set

From MPO Gene-Phenotype Associations

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

abnormal external male genitalia morphology Gene Set

From MPO Gene-Phenotype Associations

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

absent external auditory canal Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the absent external auditory canal phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

absent external female genitalia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the absent external female genitalia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

small external male genitalia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the small external male genitalia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal olfactory bulb external plexiform layer morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal olfactory bulb external plexiform layer morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

external male genitalia atrophy Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the external male genitalia atrophy phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal external female genitalia morphology Gene Set

From MPO Gene-Phenotype Associations

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

thin external granule cell layer Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the thin external granule cell layer phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

external male genital organ Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue external male genital organ from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.

external female genital organ Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue external female genital organ from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.

external iliac artery Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

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

external male genital organ Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

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

external carotid artery Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

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

external gill Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

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

external plexiform layer Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

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

external female genital organ Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

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

Epilepsy, progressive myoclonic 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epilepsy, progressive myoclonic 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gaze palsy, familial horizontal, with progressive scoliosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gaze palsy, familial horizontal, with progressive scoliosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leukoencephalopathy, progressive, with ovarian failure Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leukoencephalopathy, progressive, with ovarian failure phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Progressive pseudorheumatoid dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Progressive pseudorheumatoid dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epilepsy, progressive myoclonic 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epilepsy, progressive myoclonic 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epilepsy, progressive myoclonic 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epilepsy, progressive myoclonic 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperpigmentation, familial progressive, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperpigmentation, familial progressive, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epilepsy, progressive myoclonic 4, with or without renal failure Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epilepsy, progressive myoclonic 4, with or without renal failure phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Progressive intrahepatic cholestasis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Progressive intrahepatic cholestasis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Progressive familial intrahepatic cholestasis 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Progressive familial intrahepatic cholestasis 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Progressive familial intrahepatic cholestasis 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Progressive familial intrahepatic cholestasis 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Progressive familial heart block type 1A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Progressive familial heart block type 1A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Progressive familial heart block type 1B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Progressive familial heart block type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epilepsy, progressive myoclonic 2b Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epilepsy, progressive myoclonic 2b phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Progressive familial intrahepatic cholestasis 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Progressive familial intrahepatic cholestasis 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Progressive myoclonus epilepsy with ataxia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Progressive myoclonus epilepsy with ataxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

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

From ClinVar Gene-Phenotype Associations

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

Progressive sclerosing poliodystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Progressive sclerosing poliodystrophy 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.

Progressive myositis ossificans Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Progressive myositis ossificans phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Striatal necrosis, bilateral, and progressive polyneuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Striatal necrosis, bilateral, and progressive polyneuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly, postnatal progressive, with seizures and brain atrophy Gene Set

From ClinVar Gene-Phenotype Associations

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

Myoclonic Epilepsies, Progressive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myoclonic Epilepsies, Progressive from the curated CTD Gene-Disease Associations dataset.

Cataract, Nuclear Progressive Gene Set

From CTD Gene-Disease Associations

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

Gaze Palsy, Familial Horizontal, with Progressive Scoliosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Gaze Palsy, Familial Horizontal, with Progressive Scoliosis from the curated CTD Gene-Disease Associations dataset.

Cholestasis, progressive familial intrahepatic 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cholestasis, progressive familial intrahepatic 1 from the curated CTD Gene-Disease Associations dataset.

Cholestasis, progressive familial intrahepatic 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cholestasis, progressive familial intrahepatic 2 from the curated CTD Gene-Disease Associations dataset.

Gliosis, Familial Progressive Subcortical Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Gliosis, Familial Progressive Subcortical from the curated CTD Gene-Disease Associations dataset.

EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS from the curated CTD Gene-Disease Associations dataset.

MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY from the curated CTD Gene-Disease Associations dataset.

HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE from the curated CTD Gene-Disease Associations dataset.

Osseous Heteroplasia, Progressive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Osseous Heteroplasia, Progressive from the curated CTD Gene-Disease Associations dataset.

Supranuclear Palsy, Progressive, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Supranuclear Palsy, Progressive, 2 from the curated CTD Gene-Disease Associations dataset.

Supranuclear Palsy, Progressive, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Supranuclear Palsy, Progressive, 3 from the curated CTD Gene-Disease Associations dataset.

Epilepsy, Progressive Myoclonic, 1b Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epilepsy, Progressive Myoclonic, 1b from the curated CTD Gene-Disease Associations dataset.

EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE from the curated CTD Gene-Disease Associations dataset.

Chorioretinal atrophy, progressive bifocal Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Chorioretinal atrophy, progressive bifocal from the curated CTD Gene-Disease Associations dataset.

Macrothrombocytopenia progressive deafness Gene Set

From CTD Gene-Disease Associations

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

Erythrokeratodermia, Progressive Symmetric Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Erythrokeratodermia, Progressive Symmetric 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.

Progressive hearing loss stapes fixation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Progressive hearing loss stapes fixation from the curated CTD Gene-Disease Associations dataset.

Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay from the curated CTD Gene-Disease Associations dataset.

PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA from the curated CTD Gene-Disease Associations dataset.

Supranuclear Palsy, Progressive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Supranuclear Palsy, Progressive from the curated CTD Gene-Disease Associations dataset.

Arthropathy, progressive pseudorheumatoid, of childhood Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arthropathy, progressive pseudorheumatoid, of childhood from the curated CTD Gene-Disease Associations dataset.

Leukoencephalopathy, Progressive Multifocal Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leukoencephalopathy, Progressive Multifocal from the curated CTD Gene-Disease Associations dataset.

Progressive Familial Heart Block, Type Ib Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Progressive Familial Heart Block, Type Ib from the curated CTD Gene-Disease Associations dataset.

Cholestasis, progressive familial intrahepatic 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cholestasis, progressive familial intrahepatic 3 from the curated CTD Gene-Disease Associations dataset.

Bulbar Palsy, Progressive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Bulbar Palsy, Progressive from the curated CTD Gene-Disease Associations dataset.

Nephropathy, Progressive, with Deafness Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nephropathy, Progressive, with Deafness from the curated CTD Gene-Disease Associations dataset.

Progressive supranuclear palsy atypical Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Progressive supranuclear palsy atypical from the curated CTD Gene-Disease Associations dataset.

Renal Failure, Progressive, with Hypertension Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Renal Failure, Progressive, with Hypertension from the curated CTD Gene-Disease Associations dataset.

Supranuclear Palsy, Progressive Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Supranuclear Palsy, Progressive in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

progressive myoclonus epilepsy Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

progressive supranuclear palsy Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

progressive supranuclear palsy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

progressive bulbar palsy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

progressive multifocal leukoencephalopathy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

rapidly progressive glomerulonephritis Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

progressive muscular atrophy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

progressive myoclonus epilepsy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration Gene Set

From GAD Gene-Disease Associations

genes associated with the disease multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

slowly progressive als Gene Set

From GAD Gene-Disease Associations

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

familial atypical progressive supranuclear palsy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease familial atypical progressive supranuclear palsy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

aphasia, primary progressive; dementia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease aphasia, primary progressive; dementia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

multiple sclerosis, chronic progressive; multiple sclerosis, relapsing-remitting Gene Set

From GAD Gene-Disease Associations

genes associated with the disease multiple sclerosis, chronic progressive; multiple sclerosis, relapsing-remitting in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alzheimer disease; alzheimer's disease; aphasia, primary progressive; dementia; nerve degeneration Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alzheimer disease; alzheimer's disease; aphasia, primary progressive; dementia; nerve degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

machado-joseph disease; myoclonic epilepsies, progressive; myotonic dystrophy; oligospermia; spinocerebellar ataxias Gene Set

From GAD Gene-Disease Associations

genes associated with the disease machado-joseph disease; myoclonic epilepsies, progressive; myotonic dystrophy; oligospermia; spinocerebellar ataxias in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alzheimer disease; alzheimer's disease; amyotrophic lateral sclerosis; aphasia, primary progressive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alzheimer disease; alzheimer's disease; amyotrophic lateral sclerosis; aphasia, primary progressive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

primary progressive aphasia Gene Set

From GAD Gene-Disease Associations

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

progressive supranuclear palsy Gene Set

From GAD Gene-Disease Associations

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

alzheimer disease; alzheimer's disease; aphasia, primary progressive; dementia; memory disorders; neurodegenerative diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alzheimer disease; alzheimer's disease; aphasia, primary progressive; dementia; memory disorders; neurodegenerative diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic progressive chorea; Gene Set

From GAD Gene-Disease Associations

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

neurodegenerative diseases; supranuclear palsy, progressive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neurodegenerative diseases; supranuclear palsy, progressive 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.

supranuclear palsy, progressive Gene Set

From GAD Gene-Disease Associations

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