Syndromic Recessive X-Linked Ichthyosis

Filters:

Results for "Syndromic Recessive X-Linked Ichthyosis": 103 genes, 1001 gene sets

Name
MRT28 Gene mental retardation, non-syndromic, autosomal recessive, 28
MRT24 Gene mental retardation, non-syndromic, autosomal recessive, 24
MRT23 Gene mental retardation, non-syndromic, autosomal recessive, 23
MRT10 Gene mental retardation, non-syndromic, autosomal recessive, 10
MRT17 Gene mental retardation, non-syndromic, autosomal recessive, 17
MRT11 Gene mental retardation, non-syndromic, autosomal recessive, 11
MRT19 Gene mental retardation, non-syndromic, autosomal recessive, 19
MRT8 Gene mental retardation, non-syndromic, autosomal recessive, 8
MRT9 Gene mental retardation, non-syndromic, autosomal recessive, 9
MRT25 Gene mental retardation, non-syndromic, autosomal recessive, 25
MRT4 Gene mental retardation, non-syndromic, autosomal recessive, 4
MRT27 Gene mental retardation, non-syndromic, autosomal recessive, 27
OPA6 Gene optic atrophy 6 (autosomal recessive)
OPA3 Gene optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
SPG27 Gene spastic paraplegia 27 (autosomal recessive)
SPG25 Gene spastic paraplegia 25 (autosomal recessive, with disc herniation)
SPG24 Gene spastic paraplegia 24 (autosomal recessive)
SPG21 Gene spastic paraplegia 21 (autosomal recessive, Mast syndrome) The protein encoded by this gene binds to the hydrophobic C-terminal amino acids of CD4 which are involved in repression of T cell activation. The interaction with CD4 is mediated by the noncatalytic alpha/beta hydrolase fold domain of this protein. It is thus proposed that this gene product modulates the stimulatory activity of CD4. Mutations in this gene are associated with autosomal recessive spastic paraplegia 21 (SPG21), also known as mast syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
SPG23 Gene spastic paraplegia 23 (autosomal recessive)
MRT29 Gene Mental retardation, autosomal recessive* 29*
DFNB45 Gene deafness, autosomal recessive* 45*
DFNB20 Gene deafness, autosomal recessive* 20*
DFNB26 Gene deafness, autosomal recessive* 26*
DFNB27 Gene deafness, autosomal recessive* 27*
MYP18 Gene myopia 18 (high grade, autosomal recessive) This locus was identified by linkage in one consanguineous Chinese family to lie between D14S984 and D14S999. [provided by RefSeq, Feb 2010]
CMR2A Gene cardiomyopathy, restrictive 2A (autosomal recessive)
HOAC Gene hypoacusis 2 (autosomal recessive)
MRT16 Gene Mental retardation, autosomal recessive* 16*
DFNB75 Gene deafness, autosomal recessive* 75*
SCAR2 Gene spinocerebellar ataxia, autosomal recessive* 2*
SCAR3 Gene spinocerebellar ataxia, autosomal recessive* 3*
DFNB81 Gene deafness, autosomal recessive* 81*
CTRCT34 Gene Cataract, autosomal recessive* congenital 3*
CTRCT35 Gene cataract, congenital nuclear, autosomal recessive
PKHD1L1 Gene polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 Predicted to enable signaling receptor activity. Predicted to be involved in immune response. Predicted to act upstream of or within sensory perception of sound. Predicted to be located in cytosol; extracellular space; and membrane. Implicated in autosomal recessive nonsyndromic deafness. [provided by Alliance of Genome Resources, Mar 2025]
SPG45 Gene spastic paraplegia 45 (autosomal recessive)
SPG7 Gene spastic paraplegia 7 (pure and complicated autosomal recessive) This gene encodes a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Mutations in this gene cause autosomal recessive spastic paraplegia 7. Two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2014]
DFNB62 Gene deafness, autosomal recessive* 62*
DFNB60 Gene deafness, autosomal recessive* 60*
DFNB68 Gene deafness, autosomal recessive* 68*
DFNB69 Gene deafness, autosomal recessive* 69*
SPG11 Gene spastic paraplegia 11 (autosomal recessive) The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
DYT2 Gene dystonia 2, torsion (autosomal recessive)
DFNB85 Gene deafness, autosomal recessive* 85* This locus was defined by homozygosity mapping in a kindred of 42 enrolled individuals, between FAM18B2 and NF1. [provided by RefSeq, Feb 2010]
DFNB83 Gene deafness, autosomal recessive* 83* This locus, identified by homozygosity mapping, overlaps that of DFNA47. It may be that mutations of the same gene are responsible for recessive and dominant hearing loss. [provided by RefSeq, Feb 2010]
SPG14 Gene spastic paraplegia 14 (autosomal recessive)
USH2A Gene Usher syndrome 2A (autosomal recessive, mild) This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
MRT33 Gene Mental retardation, autosomal recessive* 33*
MRT32 Gene Mental retardation, autosomal recessive* 32*
MRT31 Gene Mental retardation, autosomal recessive* 31*
MRT30 Gene Mental retardation, autosomal recessive* 30*
MRT35 Gene Mental retardation, autosomal recessive* 35*
DFNB59 Gene deafness, autosomal recessive* 59* The protein encoded by this gene is a member of the gasdermin family, a family which is found only in vertebrates. The encoded protein is required for the proper function of auditory pathway neurons. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal recessive type 59 (DFNB59). [provided by RefSeq, Dec 2008]
DFNB57 Gene deafness, autosomal recessive* 57*
DFNB56 Gene deafness, autosomal recessive* 56*
DFNB55 Gene deafness, autosomal recessive* 55*
ECB2 Gene erythrocytosis, autosomal recessive* benign 2*
RP22 Gene retinitis pigmentosa 22 (autosomal recessive)
RP29 Gene retinitis pigmentosa 29 (autosomal recessive)
MHB Gene myopathy, hyaline body, autosomal recessive
ICR3 Gene ichthyosis congenita III, vulgaris-like recessive ichthyosis
CIRH1A Gene cirrhosis, autosomal recessive* 1A (cirhin)* This gene encodes a WD40-repeat-containing protein that is localized to the nucleolus. Mutation of this gene causes North American Indian childhood cirrhosis, a severe intrahepatic cholestasis that results in transient neonatal jaundice, and progresses to periportal fibrosis and cirrhosis in childhood and adolescence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
RP32 Gene retinitis pigmentosa 32 (autosomal recessive)
DFNB66 Gene deafness, autosomal recessive* 66*
DFNB65 Gene deafness, autosomal recessive* 65*
DFNM1 Gene deafness (recessive, nonsyndromic) modifier 1
DFNB58 Gene deafness, autosomal recessive* 58*
DFNB50 Gene deafness, autosomal recessive* 50*
DFNB71 Gene deafness, autosomal recessive* 71*
USH1K Gene Usher syndrome 1K (autosomal recessive)
SMAR Gene Spinal muscular atrophy, chronic distal, autosomal recessive
DFNB5 Gene deafness, autosomal recessive* 5*
SPAX3 Gene Ataxia, spastic, 3, autosomal recessive
DFNB38 Gene deafness, autosomal recessive* 38*
DFNB31 Gene deafness, autosomal recessive* 31* This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
DFNB33 Gene deafness, autosomal recessive* 33*
DFNB32 Gene deafness, autosomal recessive* 32*
DFNB34 Gene deafness, autosomal recessive* 34*
DFNB19 Gene deafness, autosomal recessive* 19*
DFNB44 Gene deafness, autosomal recessive* 44*
USH1H Gene Usher syndrome 1H (autosomal recessive)
USH1C Gene Usher syndrome 1C (autosomal recessive, severe) This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
USH1G Gene Usher syndrome 1G (autosomal recessive) This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Mutations in this gene are associated with Usher syndrome type 1G (USH1G). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
USH1E Gene Usher syndrome 1E (autosomal recessive, severe)
DFNB43 Gene deafness, autosomal recessive* 43*
DFNB46 Gene deafness, autosomal recessive* 46*
CTPL1 Gene cataract, pulverulent (autosomal recessive, early-onset)
DFNB40 Gene deafness, autosomal recessive* 40*
DFNB47 Gene deafness, autosomal recessive* 47*
SPG32 Gene spastic paraplegia 32 (autosomal recessive)
DFNB51 Gene deafness, autosomal recessive* 51*
OA3 Gene ocular albinism 3 (autosomal recessive)
MCOP1 Gene microphthalmia, autosomal recessive
SPG5B Gene spastic paraplegia 5B (autosomal recessive)
ARCI9 Gene Ichthyosis, congenital, autosomal recessive 9
ARCI7 Gene Ichthyosis, congenital, autosomal recessive 7
PKHD1 Gene polycystic kidney and hepatic disease 1 (autosomal recessive) The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008]
DFNB13 Gene deafness, autosomal recessive* 13*
DFNB17 Gene deafness, autosomal recessive* 17*
DFNB14 Gene deafness, autosomal recessive* 14*
HYD2 Gene hypodontia 2 (autosomal recessive)
OCA5 Gene oculocutaneous albinism 5 (autosomal recessive)
DFNB96 Gene deafness, autosomal recessive* 96*
Syndromic Recessive X-Linked Ichthyosis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Syndromic Recessive X-Linked Ichthyosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like Gene Set From 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.
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.
Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa Of Siemens-Like Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa Of Siemens-Like in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
FGFR2-related syndromic and non-syndromic craniosynostoses Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the FGFR2-related syndromic and non-syndromic craniosynostoses phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
ITPR1-related syndromic and non-syndromic hereditary ataxias Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the ITPR1-related syndromic and non-syndromic hereditary ataxias phenotype from the curated ClinVar Gene-Phenotype Associations 2025 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.
Autosomal recessive congenital ichthyosis 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autosomal recessive congenital ichthyosis 6 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autosomal recessive congenital ichthyosis 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autosomal recessive congenital ichthyosis 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autosomal recessive congenital ichthyosis 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autosomal recessive congenital ichthyosis 4A Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 4A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autosomal recessive congenital ichthyosis 4B Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 4B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
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.
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.
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.
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.
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.
ichthyosis, congenital, autosomal recessive 10 Gene Set From OMIM Gene-Disease Associations genes associated with the ichthyosis, congenital, autosomal recessive 10 phenotype from the curated OMIM Gene-Disease Associations dataset.
ichthyosis, congenital, autosomal recessive 11 Gene Set From OMIM Gene-Disease Associations genes associated with the ichthyosis, congenital, autosomal recessive 11 phenotype from the curated OMIM Gene-Disease Associations dataset.
Defective CYP4F22 causes Ichthyosis, congenital, autosomal recessive 5 (ARCI5) Gene Set From Reactome Pathways 2014 proteins participating in the Defective CYP4F22 causes Ichthyosis, congenital, autosomal recessive 5 (ARCI5) pathway from the Reactome Pathways dataset.
Autosomal Recessive Ichthyosis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Ichthyosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal recessive congenital ichthyosis Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Autosomal recessive congenital ichthyosis from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Autosomal recessive congenital ichthyosis 4B Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Autosomal recessive congenital ichthyosis 4B from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Autosomal recessive congenital ichthyosis Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive congenital ichthyosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal recessive congenital ichthyosis 4B Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive congenital ichthyosis 4B in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal recessive congenital ichthyosis 11 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive congenital ichthyosis 11 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal recessive congenital ichthyosis 2 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive congenital ichthyosis 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal recessive congenital ichthyosis 1 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive congenital ichthyosis 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal recessive congenital ichthyosis 4A Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive congenital ichthyosis 4A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal recessive congenital ichthyosis 5 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive congenital ichthyosis 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal recessive congenital ichthyosis 6 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive congenital ichthyosis 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal recessive congenital ichthyosis 9 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive congenital ichthyosis 9 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal recessive congenital ichthyosis 10 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive congenital ichthyosis 10 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal recessive congenital ichthyosis Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive congenital ichthyosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autosomal recessive keratitis-ichthyosis-deafness syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive keratitis-ichthyosis-deafness syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autosomal recessive non-syndromic intellectual disability Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive non-syndromic intellectual disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Ichthyosis, spastic quadriplegia, and mental retardation Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ichthyosis, spastic quadriplegia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Triglyceride storage disease with ichthyosis Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Triglyceride storage disease with ichthyosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Lamellar ichthyosis Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Lamellar ichthyosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ichthyosis prematurity syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ichthyosis prematurity syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma from the curated CTD Gene-Disease Associations dataset.
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome from the curated CTD Gene-Disease Associations dataset.
Harlequin type ichthyosis Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Harlequin type ichthyosis from the curated CTD Gene-Disease Associations dataset.
Lamellar ichthyosis, type 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Lamellar ichthyosis, type 2 from the curated CTD Gene-Disease Associations dataset.
Ichthyosis, Lamellar, 5 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Ichthyosis, Lamellar, 5 from the curated CTD Gene-Disease Associations dataset.
Keratitis, Ichthyosis, and Deafness (KID) Syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Keratitis, Ichthyosis, and Deafness (KID) Syndrome from the curated CTD Gene-Disease Associations dataset.
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis from the curated CTD Gene-Disease Associations dataset.
Ichthyosis Bullosa of Siemens Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Ichthyosis Bullosa of Siemens from the curated CTD Gene-Disease Associations dataset.
Ichthyosis Vulgaris Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Ichthyosis Vulgaris from the curated CTD Gene-Disease Associations dataset.
Ichthyosis follicularis atrichia photophobia syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Ichthyosis follicularis atrichia photophobia syndrome from the curated CTD Gene-Disease Associations dataset.
Ichthyosis, Lamellar Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Ichthyosis, Lamellar from the curated CTD Gene-Disease Associations dataset.
Ichthyosis hystrix, Curth Macklin type Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Ichthyosis hystrix, Curth Macklin type from the curated CTD Gene-Disease Associations dataset.
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis from the curated CTD Gene-Disease Associations dataset.
Ichthyosis Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Ichthyosis from the curated CTD Gene-Disease Associations dataset.
Ichthyosis prematurity syndrome Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Ichthyosis prematurity syndrome from the curated CTD Gene-Disease Associations dataset.
Lamellar ichthyosis, type 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Lamellar ichthyosis, type 3 from the curated CTD Gene-Disease Associations dataset.
ichthyosis vulgaris Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease ichthyosis vulgaris in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
ichthyosis Gene Set From GAD Gene-Disease Associations genes associated with the disease ichthyosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
ichthyosis vulgaris Gene Set From GAD Gene-Disease Associations genes associated with the disease ichthyosis vulgaris in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
dermatitis, atopic; ichthyosis vulgaris Gene Set From GAD Gene-Disease Associations genes associated with the disease dermatitis, atopic; ichthyosis vulgaris in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
lamellar ichthyosis Gene Set From GAD Gene-Disease Associations genes associated with the disease lamellar ichthyosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
dermatitis, allergic contact; hypersensitivity; hypersensitivity, immediate; ichthyosis vulgaris Gene Set From GAD Gene-Disease Associations genes associated with the disease dermatitis, allergic contact; hypersensitivity; hypersensitivity, immediate; ichthyosis vulgaris in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
ichthyosis Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term ichthyosis in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
ichthyosis Gene Set From HPO Gene-Disease Associations genes associated with the ichthyosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
Ichthyosis Vulgaris Gene Set From HuGE Navigator Gene-Phenotype Associations genes associated with the Ichthyosis Vulgaris phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
Ichthyosis Gene Set From HuGE Navigator Gene-Phenotype Associations genes associated with the Ichthyosis phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
ichthyosis, cyclic, with epidermolytic hyperkeratosis Gene Set From OMIM Gene-Disease Associations genes associated with the ichthyosis, cyclic, with epidermolytic hyperkeratosis phenotype from the curated OMIM Gene-Disease Associations dataset.
hystrix-like ichthyosis with deafness Gene Set From OMIM Gene-Disease Associations genes associated with the hystrix-like ichthyosis with deafness phenotype from the curated OMIM Gene-Disease Associations dataset.
keratosis linearis with ichthyosis congenita and sclerosing keratoderma Gene Set From OMIM Gene-Disease Associations genes associated with the keratosis linearis with ichthyosis congenita and sclerosing keratoderma phenotype from the curated OMIM Gene-Disease Associations dataset.
ichthyosis vulgaris Gene Set From OMIM Gene-Disease Associations genes associated with the ichthyosis vulgaris phenotype from the curated OMIM Gene-Disease Associations dataset.
ichthyosis prematurity syndrome Gene Set From OMIM Gene-Disease Associations genes associated with the ichthyosis prematurity syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.
ichthyosis histrix, curth-macklin type Gene Set From OMIM Gene-Disease Associations genes associated with the ichthyosis histrix, curth-macklin type phenotype from the curated OMIM Gene-Disease Associations dataset.
ichthyosis with confetti Gene Set From OMIM Gene-Disease Associations genes associated with the ichthyosis with confetti phenotype from the curated OMIM Gene-Disease Associations dataset.
ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis Gene Set From OMIM Gene-Disease Associations genes associated with the ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis phenotype from the curated OMIM Gene-Disease Associations dataset.
cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene Set From OMIM Gene-Disease Associations genes associated with the cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.
ichthyosis, spastic quadriplegia, and mental retardation Gene Set From OMIM Gene-Disease Associations genes associated with the ichthyosis, spastic quadriplegia, and mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset.
ichthyosis bullosa of siemens Gene Set From OMIM Gene-Disease Associations genes associated with the ichthyosis bullosa of siemens phenotype from the curated OMIM Gene-Disease Associations dataset.
keratitis-ichthyosis-deafness syndrome Gene Set From OMIM Gene-Disease Associations genes associated with the keratitis-ichthyosis-deafness syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.
vohwinkel syndrome with ichthyosis Gene Set From OMIM Gene-Disease Associations genes associated with the vohwinkel syndrome with ichthyosis phenotype from the curated OMIM Gene-Disease Associations dataset.
Triglyceride Storage Disease With Ichthyosis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Triglyceride Storage Disease With Ichthyosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Congenital Ichthyosis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Congenital Ichthyosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Harlequin Type Ichthyosis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Harlequin Type Ichthyosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Ichthyosis Congenita Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Ichthyosis Congenita in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Lamellar Ichthyosis, Type 2 Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Lamellar Ichthyosis, Type 2 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Ichthyosis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Ichthyosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Ichthyosis Bullosa Of Siemens Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Ichthyosis Bullosa Of Siemens in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Keratitis-Ichthyosis-Deafness Syndrome Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Keratitis-Ichthyosis-Deafness Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Ichthyosis Vulgaris Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Ichthyosis Vulgaris in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Bathing Suit Ichthyosis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Bathing Suit Ichthyosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Dominant Ichthyosis Vulgaris Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Dominant Ichthyosis Vulgaris in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Ichthyosis Follicularis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Ichthyosis Follicularis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Other Congenital Ichthyosis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Other Congenital Ichthyosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Ichthyosis Hystrix Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Ichthyosis Hystrix in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Keratinopathic Ichthyosis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Keratinopathic Ichthyosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Dominant Ichthyosis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Dominant Ichthyosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Follicular Ichthyosis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Follicular Ichthyosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Ichthyosis Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Ichthyosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Generalized Ichthyosis Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Generalized Ichthyosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Defective SLC27A4 causes ichthyosis prematurity syndrome (IPS) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLC27A4 causes ichthyosis prematurity syndrome (IPS) pathway from the Reactome Pathways 2024 dataset.
Ichthyosis Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Ichthyosis from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Ichthyosis Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ichthyosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Ichthyosis vulgaris Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ichthyosis vulgaris in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal dominant keratitis-ichthyosis-deafness syndrome Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant keratitis-ichthyosis-deafness syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Ichthyosis follicularis-alopecia-photophobia syndrome 1 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ichthyosis follicularis-alopecia-photophobia syndrome 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Lamellar ichthyosis Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Lamellar ichthyosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Keratoderma-ichthyosis-deafness syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Keratoderma-ichthyosis-deafness syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Congenital ichthyosis of skin Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital ichthyosis of skin phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Ichthyosis linearis circumflexa Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Ichthyosis linearis circumflexa phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Ichthyosis prematurity syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Ichthyosis prematurity syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Ichthyosis bullosa of Siemens Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Ichthyosis bullosa of Siemens phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Exfoliative ichthyosis Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Exfoliative ichthyosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Epidermolytic ichthyosis Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Epidermolytic ichthyosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Annular epidermolytic ichthyosis Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Annular epidermolytic ichthyosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autosomal dominant epidermolytic ichthyosis Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant epidermolytic ichthyosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Ichthyosis Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Ichthyosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Ichthyosis vulgaris Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Ichthyosis vulgaris phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant keratitis-ichthyosis-hearing loss syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Neonatal ichthyosis-sclerosing cholangitis syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Neonatal ichthyosis-sclerosing cholangitis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Keratitis ichthyosis and deafness syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Keratitis ichthyosis and deafness syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autosomal dominant ichthyosis vulgaris Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant ichthyosis vulgaris phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Microphthalmia syndromic 6 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Microphthalmia syndromic 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Diarrhea 3, secretory sodium, congenital, syndromic Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Diarrhea 3, secretory sodium, congenital, syndromic phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Microphthalmia syndromic 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Microphthalmia syndromic 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Microphthalmia syndromic 9 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Microphthalmia syndromic 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Non-syndromic genetic deafness Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Non-syndromic genetic deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Microphthalmia, syndromic, 7 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Microphthalmia, syndromic, 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Syndromic intellectual disability Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Syndromic intellectual disability phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Microphthalmia, syndromic 13 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Microphthalmia, syndromic 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Microphthalmia, syndromic 12 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Microphthalmia, syndromic 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autoimmune disease, syndromic multisystem Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autoimmune disease, syndromic multisystem phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Microphthalmia, syndromic 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Microphthalmia, syndromic 2 from the curated CTD Gene-Disease Associations dataset.
Microphthalmia, syndromic 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Microphthalmia, syndromic 1 from the curated CTD Gene-Disease Associations dataset.
Microphthalmia, syndromic 7 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Microphthalmia, syndromic 7 from the curated CTD Gene-Disease Associations dataset.
Microphthalmia, Syndromic 5 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Microphthalmia, Syndromic 5 from the curated CTD Gene-Disease Associations dataset.
Microphthalmia, Syndromic 4 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Microphthalmia, Syndromic 4 from the curated CTD Gene-Disease Associations dataset.
Microphthalmia, Syndromic 6 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Microphthalmia, Syndromic 6 from the curated CTD Gene-Disease Associations dataset.
Microphthalmia, Syndromic 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Microphthalmia, Syndromic 3 from the curated CTD Gene-Disease Associations dataset.
syndromic intellectual disability Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease syndromic intellectual disability from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
syndromic intellectual disability Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease syndromic intellectual disability in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
non-syndromic intellectual disability Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease non-syndromic intellectual disability in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
non-syndromic cleft lip and palate Gene Set From GAD Gene-Disease Associations genes associated with the disease non-syndromic cleft lip and palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
non-syndromic neurosensory deafness (dfnb1) Gene Set From GAD Gene-Disease Associations genes associated with the disease non-syndromic neurosensory deafness (dfnb1) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
non-syndromic deafness Gene Set From GAD Gene-Disease Associations genes associated with the disease non-syndromic deafness in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
non-syndromic cleft lip Gene Set From GAD Gene-Disease Associations genes associated with the disease non-syndromic cleft lip in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
dominant non-syndromic sensorineural hearing loss Gene Set From GAD Gene-Disease Associations genes associated with the disease dominant non-syndromic sensorineural hearing loss in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
non-syndromic oligodontia Gene Set From GAD Gene-Disease Associations genes associated with the disease non-syndromic oligodontia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
syndromic Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term syndromic in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
syndromic hearing loss Gene Set From MPO Gene-Phenotype Associations gene mutations causing the syndromic hearing loss phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
syndromic hearing impairment Gene Set From MPO Gene-Phenotype Associations gene mutations causing the syndromic hearing impairment phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
?microphthalmia, syndromic 13 Gene Set From OMIM Gene-Disease Associations genes associated with the ?microphthalmia, syndromic 13 phenotype from the curated OMIM Gene-Disease Associations dataset.
microphthalmia, syndromic 11 Gene Set From OMIM Gene-Disease Associations genes associated with the microphthalmia, syndromic 11 phenotype from the curated OMIM Gene-Disease Associations dataset.
microphthalmia, syndromic 12 Gene Set From OMIM Gene-Disease Associations genes associated with the microphthalmia, syndromic 12 phenotype from the curated OMIM Gene-Disease Associations dataset.
?microphthalmia, syndromic 1 Gene Set From OMIM Gene-Disease Associations genes associated with the ?microphthalmia, syndromic 1 phenotype from the curated OMIM Gene-Disease Associations dataset.
diarrhea 3, secretory sodium, congenital, syndromic Gene Set From OMIM Gene-Disease Associations genes associated with the diarrhea 3, secretory sodium, congenital, syndromic phenotype from the curated OMIM Gene-Disease Associations dataset.
cataract 11, syndromic Gene Set From OMIM Gene-Disease Associations genes associated with the cataract 11, syndromic phenotype from the curated OMIM Gene-Disease Associations dataset.
microphthalmia, syndromic 9 Gene Set From OMIM Gene-Disease Associations genes associated with the microphthalmia, syndromic 9 phenotype from the curated OMIM Gene-Disease Associations dataset.
microphthalmia, syndromic 5 Gene Set From OMIM Gene-Disease Associations genes associated with the microphthalmia, syndromic 5 phenotype from the curated OMIM Gene-Disease Associations dataset.
microphthalmia, syndromic 7 Gene Set From OMIM Gene-Disease Associations genes associated with the microphthalmia, syndromic 7 phenotype from the curated OMIM Gene-Disease Associations dataset.
microphthalmia, syndromic 6 Gene Set From OMIM Gene-Disease Associations genes associated with the microphthalmia, syndromic 6 phenotype from the curated OMIM Gene-Disease Associations dataset.
microphthalmia, syndromic 3 Gene Set From OMIM Gene-Disease Associations genes associated with the microphthalmia, syndromic 3 phenotype from the curated OMIM Gene-Disease Associations dataset.
microphthalmia, syndromic 2 Gene Set From OMIM Gene-Disease Associations genes associated with the microphthalmia, syndromic 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
microphthalmia, syndromic 14 Gene Set From OMIM Gene-Disease Associations genes associated with the microphthalmia, syndromic 14 phenotype from the curated OMIM Gene-Disease Associations dataset.
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Syndromic Microphthalmia Type 5 Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Syndromic Microphthalmia Type 5 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
syndromic hearing loss Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the syndromic hearing loss phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
syndromic hearing impairment Gene Set From MGI Mouse Phenotype Associations 2023 gene mutations causing the syndromic hearing impairment phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.
Syndromic intellectual disability Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Syndromic intellectual disability from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Syndromic microphthalmia 3 Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Syndromic microphthalmia 3 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Syndromic microphthalmia Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Syndromic microphthalmia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Syndromic microphthalmia 2 Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Syndromic microphthalmia 2 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
non-syndromic intellectual disability Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease non-syndromic intellectual disability in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Syndromic intellectual disability Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Syndromic intellectual disability in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Syndromic microphthalmia 9 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Syndromic microphthalmia 9 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Syndromic microphthalmia Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Syndromic microphthalmia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Syndromic microphthalmia 3 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Syndromic microphthalmia 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Syndromic microphthalmia 1 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Syndromic microphthalmia 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Syndromic microphthalmia 2 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Syndromic microphthalmia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Syndromic microphthalmia 6 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Syndromic microphthalmia 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Syndromic microphthalmia 12 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Syndromic microphthalmia 12 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Syndromic microphthalmia 5 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Syndromic microphthalmia 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Syndromic microphthalmia 10 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Syndromic microphthalmia 10 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Syndromic microphthalmia 13 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Syndromic microphthalmia 13 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Syndromic microphthalmia 8 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Syndromic microphthalmia 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Syndromic microphthalmia 14 Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Syndromic microphthalmia 14 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Syndromic multisystem autoimmune disease due to ITCH deficiency Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Syndromic multisystem autoimmune disease due to ITCH deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Syndromic inherited retinal disease Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Syndromic inherited retinal disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Non-syndromic oligodontia Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Non-syndromic oligodontia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Syndromic retinitis pigmentosa Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Syndromic retinitis pigmentosa phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Monogenic Non-Syndromic Obesity Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Monogenic Non-Syndromic Obesity phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Autosomal dominant non-syndromic intellectual disability Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant non-syndromic intellectual disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Syndromic intellectual disability Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Syndromic intellectual disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Non-Syndromic Hereditary Hearing Impairment Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Non-Syndromic Hereditary Hearing Impairment phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
CTCF-related syndromic intellectual disability Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the CTCF-related syndromic intellectual disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Syndromic complex neurodevelopmental disorder Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Syndromic complex neurodevelopmental disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Syndromic Infantile Encephalopathy Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Syndromic Infantile Encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Hereditary syndromic Pierre Robin syndrome Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary syndromic Pierre Robin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
OTX2-Related Syndromic Microphthalmia Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the OTX2-Related Syndromic Microphthalmia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Syndromic microphthalmia Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Syndromic microphthalmia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
BMP4-Related Syndromic Microphthalmia Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the BMP4-Related Syndromic Microphthalmia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Rare syndromic intellectual disability Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Rare syndromic intellectual disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Syndromic neurodevelopmental disorder Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Syndromic neurodevelopmental disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Syndromic congenital hemolytic and dyserythropoietic anemia Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Syndromic congenital hemolytic and dyserythropoietic anemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
RLIM-related syndromic intellectual disability Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the RLIM-related syndromic intellectual disability phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Non-syndromic renal or urinary tract malformation Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Non-syndromic renal or urinary tract malformation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Non-syndromic syndactyly Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the Non-syndromic syndactyly phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
ACTB-associated syndromic thrombocytopenia Gene Set From ClinVar Gene-Phenotype Associations 2025 genes associated with the ACTB-associated syndromic thrombocytopenia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
Methionine adenosyltransferase deficiency, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Methionine adenosyltransferase deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
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.
Alport syndrome, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Alport syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation, autosomal recessive 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation, autosomal recessive 7 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation, autosomal recessive 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Nemaline myopathy 3, autosomal dominant or recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Nemaline myopathy 3, autosomal dominant or recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ectopia lentis, isolated autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ectopia lentis, isolated autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Primary hypertrophic osteoarthropathy, autosomal recessive 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Primary hypertrophic osteoarthropathy, autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autosomal recessive hypophosphatemic bone disease Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive hypophosphatemic bone disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Inflammatory bowel disease 25, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Inflammatory bowel disease 25, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 30 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 30 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 37 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 37 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 35 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 35 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 39 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 39 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Osteopetrosis, autosomal recessive 8 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Osteopetrosis, autosomal recessive 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spastic paraplegia 46, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spastic paraplegia 46, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spastic paraplegia 48, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spastic paraplegia 48, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Tetraamelia, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Tetraamelia, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 25 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 25 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 24 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 24 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 23 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 23 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 22 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 22 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 29 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 29 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 28 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 28 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Thyroid hormone resistance, generalized, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Thyroid hormone resistance, generalized, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Primary autosomal recessive microcephaly 7 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Primary autosomal recessive microcephaly 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Primary autosomal recessive microcephaly 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Primary autosomal recessive microcephaly 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Osteogenesis imperfecta, recessive perinatal lethal Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Osteogenesis imperfecta, recessive perinatal lethal phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 59 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 59 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myoglobinuria, acute recurrent, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myoglobinuria, acute recurrent, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spinocerebellar ataxia autosomal recessive 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia autosomal recessive 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Parkinson disease 6, autosomal recessive early-onset Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Parkinson disease 6, autosomal recessive early-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Severe autosomal recessive muscular dystrophy of childhood - North African type Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Severe autosomal recessive muscular dystrophy of childhood - North African type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cataract, autosomal recessive congenital 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cataract, autosomal recessive congenital 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Amyotrophic lateral sclerosis 1, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Amyotrophic lateral sclerosis 1, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Severe congenital neutropenia 3, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 3, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hydrocephalus, nonsyndromic, autosomal recessive 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hydrocephalus, nonsyndromic, autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Renal tubular acidosis, distal, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Renal tubular acidosis, distal, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spastic paraplegia 54, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spastic paraplegia 54, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ataxia, spastic, 4, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ataxia, spastic, 4, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Microcephaly 10, primary, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Microcephaly 10, primary, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Heterotopia, periventricular, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Heterotopia, periventricular, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Persistent hyperplastic primary vitreous, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Persistent hyperplastic primary vitreous, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spastic paraplegia 11, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spastic paraplegia 11, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spastic paraplegia 57, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spastic paraplegia 57, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spinocerebellar ataxia, autosomal recessive 7 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia, autosomal recessive 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 102 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 102 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spastic paraplegia 72, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spastic paraplegia 72, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Segawa syndrome, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Segawa syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Myopia 23, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Myopia 23, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Klippel-Feil syndrome 2, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Klippel-Feil syndrome 2, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive hypohidrotic ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 8 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 9 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 6 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 7 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spinocerebellar ataxia, autosomal recessive 15 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia, autosomal recessive 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spinocerebellar ataxia, autosomal recessive 12 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia, autosomal recessive 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spinocerebellar ataxia, autosomal recessive 11 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia, autosomal recessive 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spinocerebellar ataxia, autosomal recessive 10 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia, autosomal recessive 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spastic paraplegia 44, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spastic paraplegia 44, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spastic ataxia 5, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spastic ataxia 5, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Charcot-Marie-Tooth disease, recessive intermediate B Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Charcot-Marie-Tooth disease, recessive intermediate B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Indifference to pain, congenital, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Indifference to pain, congenital, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Retinal degeneration, autosomal recessive, clumped pigment type Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Retinal degeneration, autosomal recessive, clumped pigment type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Amyotrophic lateral sclerosis 6, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Amyotrophic lateral sclerosis 6, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Epidermolysis bullosa simplex, autosomal recessive 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Epidermolysis bullosa simplex, autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 18b Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 18b phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spastic paraplegia 55, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spastic paraplegia 55, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Sick sinus syndrome 1, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Sick sinus syndrome 1, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation, autosomal recessive 18 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spastic paraplegia 63, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spastic paraplegia 63, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation, autosomal recessive 27 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 27 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Nemaline myopathy 2, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Nemaline myopathy 2, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Congenital myotonia, autosomal recessive form Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Congenital myotonia, autosomal recessive form phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 91 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 91 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Severe congenital neutropenia 6, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 6, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 84b Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 84b phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cataract, congenital nuclear, autosomal recessive 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cataract, congenital nuclear, autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Cataract, congenital nuclear, autosomal recessive 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Cataract, congenital nuclear, autosomal recessive 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Polymicrogyria, bilateral perisylvian, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Polymicrogyria, bilateral perisylvian, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spinocerebellar ataxia autosomal recessive with axonal neuropathy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia autosomal recessive with axonal neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autosomal recessive Dejerine-Sottas syndrome Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive Dejerine-Sottas syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation, autosomal recessive 39 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 39 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Glut1 deficiency syndrome 1, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Glut1 deficiency syndrome 1, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 86 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 86 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 81 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 81 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Oculodentodigital dysplasia, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Oculodentodigital dysplasia, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 89 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 89 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 88 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 88 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Recessive dystrophic epidermolysis bullosa Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Recessive dystrophic epidermolysis bullosa phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 48 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 48 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Monocyte and dendritic cell deficiency, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Monocyte and dendritic cell deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spinocerebellar ataxia, autosomal recessive 14 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia, autosomal recessive 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spinocerebellar ataxia, autosomal recessive 9 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia, autosomal recessive 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spinocerebellar ataxia, autosomal recessive 8 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia, autosomal recessive 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Pseudohypoaldosteronism type 1 autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Pseudohypoaldosteronism type 1 autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation, autosomal recessive 38 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 38 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Sclerocornea, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Sclerocornea, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spastic paraplegia 56, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spastic paraplegia 56, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation, autosomal recessive 34 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 34 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 53 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 53 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spastic paraplegia 30, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spastic paraplegia 30, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Epidermolysis bullosa dystrophica inversa, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Epidermolysis bullosa dystrophica inversa, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Microcephaly and chorioretinopathy, autosomal recessive, 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Microcephaly and chorioretinopathy, autosomal recessive, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Charcot-Marie-Tooth disease, recessive intermediate d Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Charcot-Marie-Tooth disease, recessive intermediate d phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Charcot-Marie-Tooth disease, recessive intermediate c Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Charcot-Marie-Tooth disease, recessive intermediate c phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Dyskeratosis congenita, autosomal recessive, 3 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Dyskeratosis congenita, autosomal recessive, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Charcot-Marie-Tooth disease, recessive intermediate A Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Charcot-Marie-Tooth disease, recessive intermediate A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Agammaglobulinemia 6, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Agammaglobulinemia 6, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Agammaglobulinemia 7, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Agammaglobulinemia 7, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation, autosomal recessive 13 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation, autosomal recessive 12 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation, autosomal recessive 14 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Ataxia, spastic, 2, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Ataxia, spastic, 2, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spinocerebellar ataxia autosomal recessive 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia autosomal recessive 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 42 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 42 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 44 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 44 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Severe congenital neutropenia 4, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Severe congenital neutropenia 4, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spastic paraplegia 45, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Spastic paraplegia 45, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 31 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 31 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mycobacterial and viral infections, susceptibility to, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mycobacterial and viral infections, susceptibility to, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation, autosomal recessive 47 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 47 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Osteopetrosis autosomal recessive 7 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Osteopetrosis autosomal recessive 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Osteopetrosis autosomal recessive 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Osteopetrosis autosomal recessive 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Osteopetrosis autosomal recessive 5 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Osteopetrosis autosomal recessive 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Osteopetrosis autosomal recessive 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Osteopetrosis autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Osteopetrosis autosomal recessive 1 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Osteopetrosis autosomal recessive 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 76 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 76 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 77 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 77 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 74 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 74 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 70 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 70 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 79 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 79 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autosomal recessive cutis laxa type 2B Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive cutis laxa type 2B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autosomal recessive cutis laxa type IA Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive cutis laxa type IA phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Autosomal recessive centronuclear myopathy Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive centronuclear myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
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 cutis laxa type 3B Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive cutis laxa type 3B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Microcephaly 11, primary, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Microcephaly 11, primary, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Microcephaly with chorioretinopathy, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Microcephaly with chorioretinopathy, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Robinow syndrome, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Robinow syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation, autosomal recessive 40 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 40 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation, autosomal recessive 41 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 41 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation, autosomal recessive 42 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 42 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation, autosomal recessive 43 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 43 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation, autosomal recessive 44 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 44 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation, autosomal recessive 45 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 45 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Mental retardation, autosomal recessive 46 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 46 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Bestrophinopathy, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Bestrophinopathy, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Microcephaly 9, primary, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Microcephaly 9, primary, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Distal spinal muscular atrophy, autosomal recessive 4 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Distal spinal muscular atrophy, autosomal recessive 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Hypophosphatemic rickets, autosomal recessive, 2 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Hypophosphatemic rickets, autosomal recessive, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 15 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 16 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 12 Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Microcephaly 13, primary, autosomal recessive Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Microcephaly 13, primary, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Deafness, autosomal recessive 1A Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Deafness, autosomal recessive 1A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Spastic paraplegia 20, autosomal recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spastic paraplegia 20, autosomal recessive from the curated CTD Gene-Disease Associations dataset.
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 1b Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 1b from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 32 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 32 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 1A Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 1A from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 14 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 14 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 16 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 16 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 17 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 17 from the curated CTD Gene-Disease Associations dataset.
Spastic Paraplegia 32, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spastic Paraplegia 32, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Osteopetrosis, Autosomal Recessive 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Osteopetrosis, Autosomal Recessive 1 from the curated CTD Gene-Disease Associations dataset.
Osteopetrosis, Autosomal Recessive 7 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Osteopetrosis, Autosomal Recessive 7 from the curated CTD Gene-Disease Associations dataset.
Osteopetrosis, Autosomal Recessive 5 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Osteopetrosis, Autosomal Recessive 5 from the curated CTD Gene-Disease Associations dataset.
Osteopetrosis, Autosomal Recessive 4 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Osteopetrosis, Autosomal Recessive 4 from the curated CTD Gene-Disease Associations dataset.
DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT from the curated CTD Gene-Disease Associations dataset.
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 from the curated CTD Gene-Disease Associations dataset.
Heterotopia, Periventricular, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Heterotopia, Periventricular, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 from the curated CTD Gene-Disease Associations dataset.
Amyotrophic Lateral Sclerosis 6, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Amyotrophic Lateral Sclerosis 6, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 67 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 67 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 13 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 13 from the curated CTD Gene-Disease Associations dataset.
Mental Retardation, Autosomal Recessive 13 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 13 from the curated CTD Gene-Disease Associations dataset.
DEAFNESS, AUTOSOMAL RECESSIVE 91 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 91 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 77 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 77 from the curated CTD Gene-Disease Associations dataset.
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I from the curated CTD Gene-Disease Associations dataset.
Spastic paraplegia type 5A, recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spastic paraplegia type 5A, recessive from the curated CTD Gene-Disease Associations dataset.
DEAFNESS, AUTOSOMAL RECESSIVE 85 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 85 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 79 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 79 from the curated CTD Gene-Disease Associations dataset.
Osteopetrosis, Autosomal Recessive 6 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Osteopetrosis, Autosomal Recessive 6 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 33 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 33 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 31 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 31 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 37 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 37 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 35 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 35 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 38 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 38 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 39 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 39 from the curated CTD Gene-Disease Associations dataset.
Sick Sinus Syndrome 1, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Sick Sinus Syndrome 1, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive from the curated CTD Gene-Disease Associations dataset.
DEAFNESS, AUTOSOMAL RECESSIVE 83 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 83 from the curated CTD Gene-Disease Associations dataset.
Ataxia, Spastic, 3, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Ataxia, Spastic, 3, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 40 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 40 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 46 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 46 from the curated CTD Gene-Disease Associations dataset.
Candidiasis familial chronic mucocutaneous, autosomal recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Candidiasis familial chronic mucocutaneous, autosomal recessive from the curated CTD Gene-Disease Associations dataset.
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 44 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 44 from the curated CTD Gene-Disease Associations dataset.
Spastic Paraplegia 7, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spastic Paraplegia 7, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Hypercholesterolemia, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hypercholesterolemia, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 26 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 26 from the curated CTD Gene-Disease Associations dataset.
Indifference to Pain, Congenital, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Indifference to Pain, Congenital, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Robinow syndrome, autosomal recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Robinow syndrome, autosomal recessive from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 27 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 27 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 22 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 22 from the curated CTD Gene-Disease Associations dataset.
Inflammatory Bowel Disease 25, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Inflammatory Bowel Disease 25, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative from the curated CTD Gene-Disease Associations dataset.
DEAFNESS, AUTOSOMAL RECESSIVE 8 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 8 from the curated CTD Gene-Disease Associations dataset.
Spastic paraplegia type 5B, recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spastic paraplegia type 5B, recessive from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 62 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 62 from the curated CTD Gene-Disease Associations dataset.
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.
Dystonia 17, Torsion, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Dystonia 17, Torsion, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Spastic paraplegia 11, autosomal recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spastic paraplegia 11, autosomal recessive from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive, 24 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive, 24 from the curated CTD Gene-Disease Associations dataset.
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.
Polycystic Kidney, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Polycystic Kidney, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Spinocerebellar Ataxia, Autosomal Recessive 9 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar Ataxia, Autosomal Recessive 9 from the curated CTD Gene-Disease Associations dataset.
Spinocerebellar Ataxia, Autosomal Recessive 8 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar Ataxia, Autosomal Recessive 8 from the curated CTD Gene-Disease Associations dataset.
SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.
Renal tubular acidosis, distal, autosomal recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Renal tubular acidosis, distal, autosomal recessive from the curated CTD Gene-Disease Associations dataset.
Spastic Paraplegia 44, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spastic Paraplegia 44, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Spastic paraplegia 25, autosomal recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spastic paraplegia 25, autosomal recessive from the curated CTD Gene-Disease Associations dataset.
Myopathy, Hyaline Body, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Myopathy, Hyaline Body, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.
Thyroid Hormone Resistance, Generalized, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Thyroid Hormone Resistance, Generalized, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Cutis Laxa, Autosomal Recessive, Type IIA Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cutis Laxa, Autosomal Recessive, Type IIA from the curated CTD Gene-Disease Associations dataset.
Cutis Laxa, Autosomal Recessive, Type IIB Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cutis Laxa, Autosomal Recessive, Type IIB from the curated CTD Gene-Disease Associations dataset.
Spastic paraplegia 15, autosomal recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spastic paraplegia 15, autosomal recessive from the curated CTD Gene-Disease Associations dataset.
Cerebral Palsy, Ataxic, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cerebral Palsy, Ataxic, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy from the curated CTD Gene-Disease Associations dataset.
DEAFNESS, AUTOSOMAL RECESSIVE 18A Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 18A from the curated CTD Gene-Disease Associations dataset.
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II from the curated CTD Gene-Disease Associations dataset.
DEAFNESS, AUTOSOMAL RECESSIVE 74 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 74 from the curated CTD Gene-Disease Associations dataset.
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 from the curated CTD Gene-Disease Associations dataset.
Spastic Paraplegia 39, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spastic Paraplegia 39, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 30 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 30 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 28 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 28 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 59 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 59 from the curated CTD Gene-Disease Associations dataset.
Spastic Paraplegia-50, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spastic Paraplegia-50, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.
DEAFNESS, AUTOSOMAL RECESSIVE 84A Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 84A from the curated CTD Gene-Disease Associations dataset.
Mental Retardation, Autosomal Recessive 9 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 9 from the curated CTD Gene-Disease Associations dataset.
Charcot-Marie-Tooth Disease, Recessive Intermediate A Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Charcot-Marie-Tooth Disease, Recessive Intermediate A from the curated CTD Gene-Disease Associations dataset.
Spastic paraplegia 14, autosomal recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spastic paraplegia 14, autosomal recessive from the curated CTD Gene-Disease Associations dataset.
Mental Retardation, Autosomal Recessive 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 3 from the curated CTD Gene-Disease Associations dataset.
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B from the curated CTD Gene-Disease Associations dataset.
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.
Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Alport syndrome, recessive type Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Alport syndrome, recessive type from the curated CTD Gene-Disease Associations dataset.
Mental Retardation, Autosomal Recessive 4 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 4 from the curated CTD Gene-Disease Associations dataset.
DEAFNESS, AUTOSOMAL RECESSIVE 25 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 25 from the curated CTD Gene-Disease Associations dataset.
Mental Retardation, Autosomal Recessive 11 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 11 from the curated CTD Gene-Disease Associations dataset.
Mental Retardation, Autosomal Recessive 10 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 10 from the curated CTD Gene-Disease Associations dataset.
Mental Retardation, Autosomal Recessive 8 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 8 from the curated CTD Gene-Disease Associations dataset.
Parkinson Disease 6, Autosomal Recessive Early-Onset Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Parkinson Disease 6, Autosomal Recessive Early-Onset from the curated CTD Gene-Disease Associations dataset.
Cataract, Autosomal Recessive Congenital 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cataract, Autosomal Recessive Congenital 3 from the curated CTD Gene-Disease Associations dataset.
Microcephaly, Primary Autosomal Recessive, 5 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Microcephaly, Primary Autosomal Recessive, 5 from the curated CTD Gene-Disease Associations dataset.
Spinocerebellar ataxia, autosomal recessive 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar ataxia, autosomal recessive 3 from the curated CTD Gene-Disease Associations dataset.
Hypophosphatemic Rickets, Autosomal Recessive, 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hypophosphatemic Rickets, Autosomal Recessive, 2 from the curated CTD Gene-Disease Associations dataset.
Hypophosphatemic Rickets, Autosomal Recessive, 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Hypophosphatemic Rickets, Autosomal Recessive, 1 from the curated CTD Gene-Disease Associations dataset.
Microcephaly, Primary Autosomal Recessive, 4 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Microcephaly, Primary Autosomal Recessive, 4 from the curated CTD Gene-Disease Associations dataset.
Microcephaly, Primary Autosomal Recessive, 6 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Microcephaly, Primary Autosomal Recessive, 6 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 2 from the curated CTD Gene-Disease Associations dataset.
Mental Retardation, Autosomal Recessive 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 2 from the curated CTD Gene-Disease Associations dataset.
Mental Retardation, Autosomal Recessive 7 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 7 from the curated CTD Gene-Disease Associations dataset.
Mental Retardation, Autosomal Recessive 6 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 6 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 5 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 5 from the curated CTD Gene-Disease Associations dataset.
Cataract, Autosomal Recessive, Early-Onset, Pulverulent Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cataract, Autosomal Recessive, Early-Onset, Pulverulent from the curated CTD Gene-Disease Associations dataset.
SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.
Microcephaly, Primary Autosomal Recessive, 7 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Microcephaly, Primary Autosomal Recessive, 7 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 21 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 21 from the curated CTD Gene-Disease Associations dataset.
Colorectal Adenomatous Polyposis, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Colorectal Adenomatous Polyposis, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease BESTROPHINOPATHY, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.
Inflammatory Bowel Disease 28, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Inflammatory Bowel Disease 28, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
DEAFNESS, AUTOSOMAL RECESSIVE 45 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 45 from the curated CTD Gene-Disease Associations dataset.
Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Spinocerebellar ataxia, autosomal recessive 4 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar ataxia, autosomal recessive 4 from the curated CTD Gene-Disease Associations dataset.
Spinocerebellar ataxia, autosomal recessive 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar ataxia, autosomal recessive 1 from the curated CTD Gene-Disease Associations dataset.
Myosclerosis, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Myosclerosis, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Microcephaly, Primary Autosomal Recessive, 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Microcephaly, Primary Autosomal Recessive, 3 from the curated CTD Gene-Disease Associations dataset.
Deafness, autosomal recessive 51 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, autosomal recessive 51 from the curated CTD Gene-Disease Associations dataset.
Microcephaly, Primary Autosomal Recessive, 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Microcephaly, Primary Autosomal Recessive, 1 from the curated CTD Gene-Disease Associations dataset.
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive from the curated CTD Gene-Disease Associations dataset.
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.
Spinocerebellar ataxia, autosomal recessive 6 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar ataxia, autosomal recessive 6 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 12 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 12 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 68 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 68 from the curated CTD Gene-Disease Associations dataset.
Spinocerebellar ataxia, autosomal recessive 5 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar ataxia, autosomal recessive 5 from the curated CTD Gene-Disease Associations dataset.
THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 65 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 65 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 9 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 9 from the curated CTD Gene-Disease Associations dataset.
Dyskeratosis Congenita, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Dyskeratosis Congenita, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Tetra-amelia autosomal recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Tetra-amelia autosomal recessive from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 3 from the curated CTD Gene-Disease Associations dataset.
Mental Retardation, Autosomal Recessive 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 1 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 53 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 53 from the curated CTD Gene-Disease Associations dataset.
Spinocerebellar Ataxia, Autosomal Recessive 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spinocerebellar Ataxia, Autosomal Recessive 2 from the curated CTD Gene-Disease Associations dataset.
Epidermolysis Bullosa Simplex, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Epidermolysis Bullosa Simplex, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.
AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT from the curated CTD Gene-Disease Associations dataset.
Myoglobinuria, Acute Recurrent, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Myoglobinuria, Acute Recurrent, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 47 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 47 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 49 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 49 from the curated CTD Gene-Disease Associations dataset.
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 from the curated CTD Gene-Disease Associations dataset.
AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.
Spastic Paraplegia 27, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spastic Paraplegia 27, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Cataract, Congenital Nuclear, Autosomal Recessive 1 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cataract, Congenital Nuclear, Autosomal Recessive 1 from the curated CTD Gene-Disease Associations dataset.
SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA from the curated CTD Gene-Disease Associations dataset.
Oculodentodigital Dysplasia, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Oculodentodigital Dysplasia, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 42 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 42 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 71 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 71 from the curated CTD Gene-Disease Associations dataset.
Deafness, autosomal recessive 55 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, autosomal recessive 55 from the curated CTD Gene-Disease Associations dataset.
Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Cataract, Congenital Nuclear, Autosomal Recessive 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cataract, Congenital Nuclear, Autosomal Recessive 3 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 20 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 20 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 23 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 23 from the curated CTD Gene-Disease Associations dataset.
Inclusion body myopathy autosomal recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Inclusion body myopathy autosomal recessive from the curated CTD Gene-Disease Associations dataset.
Cataract, Congenital Nuclear, Autosomal Recessive 2 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cataract, Congenital Nuclear, Autosomal Recessive 2 from the curated CTD Gene-Disease Associations dataset.
Cutis laxa, recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Cutis laxa, recessive from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 6 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 6 from the curated CTD Gene-Disease Associations dataset.
Segawa syndrome, autosomal recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Segawa syndrome, autosomal recessive from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 63 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 63 from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 66 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 66 from the curated CTD Gene-Disease Associations dataset.
Spastic Paraplegia 18, Autosomal Recessive Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Spastic Paraplegia 18, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.
Deafness, Autosomal Recessive 7 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 7 from the curated CTD Gene-Disease Associations dataset.
Parkinson Disease 7, Autosomal Recessive Early-Onset Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Parkinson Disease 7, Autosomal Recessive Early-Onset from the curated CTD Gene-Disease Associations dataset.
Neutropenia, Severe Congenital, Autosomal Recessive 3 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Recessive 3 from the curated CTD Gene-Disease Associations dataset.
Neutropenia, Severe Congenital, Autosomal Recessive 4 Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Recessive 4 from the curated CTD Gene-Disease Associations dataset.
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.
autosomal recessive disease Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease autosomal recessive disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
autosomal recessive disease Gene Set From DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease autosomal recessive disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
autosomal recessive nonsyndromic deafness Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease autosomal recessive nonsyndromic deafness in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
autosomal recessive disease Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease autosomal recessive disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
autosomal recessive charcot-marie-tooth disease Gene Set From GAD Gene-Disease Associations genes associated with the disease autosomal recessive charcot-marie-tooth disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
recessive charcot-marie-tooth disease Gene Set From GAD Gene-Disease Associations genes associated with the disease recessive charcot-marie-tooth disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
recessive retinitis pigmentosa Gene Set From GAD Gene-Disease Associations genes associated with the disease recessive retinitis pigmentosa in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
recessive cone-rod dystrophy Gene Set From GAD Gene-Disease Associations genes associated with the disease recessive cone-rod dystrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
recessive Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term recessive in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
autosomal recessive disease Gene Set From GWASdb SNP-Disease Associations genes associated with the disease autosomal recessive disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.
autosomal recessive inheritance Gene Set From HPO Gene-Disease Associations genes associated with the autosomal recessive inheritance phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
Polycystic Kidney, Autosomal Recessive Gene Set From HuGE Navigator Gene-Phenotype Associations genes associated with the Polycystic Kidney, Autosomal Recessive phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
mental retardation, autosomal recessive, 9/26 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive, 9/26 phenotype from the curated OMIM Gene-Disease Associations dataset.
scid, autosomal recessive, t-negative/b-positive type Gene Set From OMIM Gene-Disease Associations genes associated with the scid, autosomal recessive, t-negative/b-positive type phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 28 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 28 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 29 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 29 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 23 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 23 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 27 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 27 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 24 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 24 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 25 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 25 phenotype from the curated OMIM Gene-Disease Associations dataset.
spondylocostal dysostosis 1, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spondylocostal dysostosis 1, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 5a, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 5a, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
myotonia levior, recessive Gene Set From OMIM Gene-Disease Associations genes associated with the myotonia levior, recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spinal muscular atrophy, distal, autosomal recessive, 4 Gene Set From OMIM Gene-Disease Associations genes associated with the spinal muscular atrophy, distal, autosomal recessive, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.
spinal muscular atrophy, distal, autosomal recessive, 5 Gene Set From OMIM Gene-Disease Associations genes associated with the spinal muscular atrophy, distal, autosomal recessive, 5 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 74 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 74 phenotype from the curated OMIM Gene-Disease Associations dataset.
spondylocostal dysostosis 2, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spondylocostal dysostosis 2, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
?spinocerebellar ataxia, autosomal recessive 15 Gene Set From OMIM Gene-Disease Associations genes associated with the ?spinocerebellar ataxia, autosomal recessive 15 phenotype from the curated OMIM Gene-Disease Associations dataset.
?spinocerebellar ataxia, autosomal recessive 17 Gene Set From OMIM Gene-Disease Associations genes associated with the ?spinocerebellar ataxia, autosomal recessive 17 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 18a Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 18a phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 18b Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 18b phenotype from the curated OMIM Gene-Disease Associations dataset.
epidermolysis bullosa, nonspecific, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the epidermolysis bullosa, nonspecific, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia due to protein s deficiency, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to protein s deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
weill-marchesani syndrome 3, recessive Gene Set From OMIM Gene-Disease Associations genes associated with the weill-marchesani syndrome 3, recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
l-ferritin deficiency, dominant and recessive Gene Set From OMIM Gene-Disease Associations genes associated with the l-ferritin deficiency, dominant and recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
?microcephaly 11, primary, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the ?microcephaly 11, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 18, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 18, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 40 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 40 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 44 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 44 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 46 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 46 phenotype from the curated OMIM Gene-Disease Associations dataset.
osteopetrosis, autosomal recessive 3, with renal tubular acidosis Gene Set From OMIM Gene-Disease Associations genes associated with the osteopetrosis, autosomal recessive 3, with renal tubular acidosis phenotype from the curated OMIM Gene-Disease Associations dataset.
hydrocephalus, nonsyndromic, autosomal recessive 2 Gene Set From OMIM Gene-Disease Associations genes associated with the hydrocephalus, nonsyndromic, autosomal recessive 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 32, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 32, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 51 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 51 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 53 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 53 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 55 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 55 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 59 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 59 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 5 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 5 phenotype from the curated OMIM Gene-Disease Associations dataset.
microcephaly 2, primary, autosomal recessive, with or without cortical malformations Gene Set From OMIM Gene-Disease Associations genes associated with the microcephaly 2, primary, autosomal recessive, with or without cortical malformations phenotype from the curated OMIM Gene-Disease Associations dataset.
neuromyotonia and axonal neuropathy, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the neuromyotonia and axonal neuropathy, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 53, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 53, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
ectopia lentis, isolated, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the ectopia lentis, isolated, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
heterotaxy, visceral, 6, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the heterotaxy, visceral, 6, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
cataract 22, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the cataract 22, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
microcephaly 5, primary, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the microcephaly 5, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 4, with enlarged vestibular aqueduct Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 4, with enlarged vestibular aqueduct phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic ataxia 2, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic ataxia 2, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic ataxia 3, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic ataxia 3, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 76 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 76 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 77 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 77 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 70 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 70 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 71 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 71 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 79 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 79 phenotype from the curated OMIM Gene-Disease Associations dataset.
retinitis pigmentosa, juvenile, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the retinitis pigmentosa, juvenile, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
charcot-marie-tooth disease, recessive intermediate, a Gene Set From OMIM Gene-Disease Associations genes associated with the charcot-marie-tooth disease, recessive intermediate, a phenotype from the curated OMIM Gene-Disease Associations dataset.
protoporphyria, erythropoietic, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the protoporphyria, erythropoietic, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 1a Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 1a phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 1b Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 1b phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 14 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 14 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 15 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 15 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 16 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 16 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 17 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 17 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 12 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 12 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 13 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 13 phenotype from the curated OMIM Gene-Disease Associations dataset.
immunodeficiency 31b, mycobacterial and viral infections, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the immunodeficiency 31b, mycobacterial and viral infections, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
thrombophilia due to protein c deficiency, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the thrombophilia due to protein c deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 30, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 30, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 85 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 85 phenotype from the curated OMIM Gene-Disease Associations dataset.
myopia 23, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the myopia 23, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
?spastic paraplegia 43, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the ?spastic paraplegia 43, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 32 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 32 phenotype from the curated OMIM Gene-Disease Associations dataset.
hydrocephalus, nonsyndromic, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the hydrocephalus, nonsyndromic, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 45, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 45, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 33 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 33 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 30 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 30 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 31 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 31 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 36 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 36 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 37 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 37 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 35 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 35 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 38 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 38 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 39 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 39 phenotype from the curated OMIM Gene-Disease Associations dataset.
ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency Gene Set From OMIM Gene-Disease Associations genes associated with the ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 25, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 25, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
?deafness, autosomal recessive 91 Gene Set From OMIM Gene-Disease Associations genes associated with the ?deafness, autosomal recessive 91 phenotype from the curated OMIM Gene-Disease Associations dataset.
inclusion body myopathy, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the inclusion body myopathy, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 39, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 39, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive, 4 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive, 6 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive, 6 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive, 8 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive, 8 phenotype from the curated OMIM Gene-Disease Associations dataset.
night blindness, congenital stationary (complete), 1f, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the night blindness, congenital stationary (complete), 1f, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spinocerebellar ataxia, autosomal recessive 7 Gene Set From OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia, autosomal recessive 7 phenotype from the curated OMIM Gene-Disease Associations dataset.
spinocerebellar ataxia, autosomal recessive 3 Gene Set From OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia, autosomal recessive 3 phenotype from the curated OMIM Gene-Disease Associations dataset.
spinocerebellar ataxia, autosomal recessive 2 Gene Set From OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia, autosomal recessive 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
spinocerebellar ataxia, autosomal recessive 8 Gene Set From OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia, autosomal recessive 8 phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 55, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 55, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
epidermolysis bullosa simplex, sutosomal recessive 2 Gene Set From OMIM Gene-Disease Associations genes associated with the epidermolysis bullosa simplex, sutosomal recessive 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
spinal muscular atrophy, chronic distal, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spinal muscular atrophy, chronic distal, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 30 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 30 phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 24, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 24, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
neutropenia, severe congenital 3, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital 3, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
immunodeficiency 32b, monocyte and dendritic cell deficiency, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the immunodeficiency 32b, monocyte and dendritic cell deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 28, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 28, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
nemaline myopathy 1, autosomal dominant or recessive Gene Set From OMIM Gene-Disease Associations genes associated with the nemaline myopathy 1, autosomal dominant or recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
{dyskeratosis congenita, autosomal recessive 4} Gene Set From OMIM Gene-Disease Associations genes associated with the {dyskeratosis congenita, autosomal recessive 4} phenotype from the curated OMIM Gene-Disease Associations dataset.
microcephaly 9, primary, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the microcephaly 9, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 3 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 3 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 2 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 7 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 7 phenotype from the curated OMIM Gene-Disease Associations dataset.
hypercholesterolemia, familial, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the hypercholesterolemia, familial, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
nemaline myopathy 8, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the nemaline myopathy 8, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
aicardi-goutieres syndrome 1, dominant and recessive Gene Set From OMIM Gene-Disease Associations genes associated with the aicardi-goutieres syndrome 1, dominant and recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii Gene Set From OMIM Gene-Disease Associations genes associated with the granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 11, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 11, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spinocrebellar ataxia, autosomal recessive 12 Gene Set From OMIM Gene-Disease Associations genes associated with the spinocrebellar ataxia, autosomal recessive 12 phenotype from the curated OMIM Gene-Disease Associations dataset.
inflammatory bowel disease 25, early onset, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the inflammatory bowel disease 25, early onset, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
methionine adenosyltransferase deficiency, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the methionine adenosyltransferase deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
?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.
charcot-marie-tooth disease, recessive intermediate d Gene Set From OMIM Gene-Disease Associations genes associated with the charcot-marie-tooth disease, recessive intermediate d phenotype from the curated OMIM Gene-Disease Associations dataset.
charcot-marie-tooth disease, recessive intermediate c Gene Set From OMIM Gene-Disease Associations genes associated with the charcot-marie-tooth disease, recessive intermediate c phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 47, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 47, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
hypoparathyroidism, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the hypoparathyroidism, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
microcephaly 1, primary, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the microcephaly 1, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
retinitis pigmentosa-12, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the retinitis pigmentosa-12, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
?microcephaly 8, primary, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the ?microcephaly 8, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spinocerebellar ataxia, autosomal recessive 16 Gene Set From OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia, autosomal recessive 16 phenotype from the curated OMIM Gene-Disease Associations dataset.
spinocerebellar ataxia, autosomal recessive 14 Gene Set From OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia, autosomal recessive 14 phenotype from the curated OMIM Gene-Disease Associations dataset.
spinocerebellar ataxia, autosomal recessive 13 Gene Set From OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia, autosomal recessive 13 phenotype from the curated OMIM Gene-Disease Associations dataset.
spinocerebellar ataxia, autosomal recessive 11 Gene Set From OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia, autosomal recessive 11 phenotype from the curated OMIM Gene-Disease Associations dataset.
spinocerebellar ataxia, autosomal recessive 10 Gene Set From OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia, autosomal recessive 10 phenotype from the curated OMIM Gene-Disease Associations dataset.
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.
hyperekplexia, hereditary 1, autosomal dominant or recessive Gene Set From OMIM Gene-Disease Associations genes associated with the hyperekplexia, hereditary 1, autosomal dominant or recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
cutis laxa, autosomal recessive, type iiia Gene Set From OMIM Gene-Disease Associations genes associated with the cutis laxa, autosomal recessive, type iiia phenotype from the curated OMIM Gene-Disease Associations dataset.
cutis laxa, autosomal recessive, type iiib Gene Set From OMIM Gene-Disease Associations genes associated with the cutis laxa, autosomal recessive, type iiib phenotype from the curated OMIM Gene-Disease Associations dataset.
?mental retardation, autosomal recessive 45 Gene Set From OMIM Gene-Disease Associations genes associated with the ?mental retardation, autosomal recessive 45 phenotype from the curated OMIM Gene-Disease Associations dataset.
?mental retardation, autosomal recessive 42 Gene Set From OMIM Gene-Disease Associations genes associated with the ?mental retardation, autosomal recessive 42 phenotype from the curated OMIM Gene-Disease Associations dataset.
?mental retardation, autosomal recessive 43 Gene Set From OMIM Gene-Disease Associations genes associated with the ?mental retardation, autosomal recessive 43 phenotype from the curated OMIM Gene-Disease Associations dataset.
retinitis pigmentosa 4, autosomal dominant or recessive Gene Set From OMIM Gene-Disease Associations genes associated with the retinitis pigmentosa 4, autosomal dominant or recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 27, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 27, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
parkinson disease 15, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the parkinson disease 15, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
?anemia, sideroblastic, pyridoxine-refractory, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the ?anemia, sideroblastic, pyridoxine-refractory, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
{deafness, autosomal recessive 12, modifier of} Gene Set From OMIM Gene-Disease Associations genes associated with the {deafness, autosomal recessive 12, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset.
immunodeficiency, primary, autosomal recessive, il21r-related Gene Set From OMIM Gene-Disease Associations genes associated with the immunodeficiency, primary, autosomal recessive, il21r-related phenotype from the curated OMIM Gene-Disease Associations dataset.
myopathy, centronuclear, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the myopathy, centronuclear, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 39 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 39 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 38 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 38 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 31 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 31 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 33 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 33 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 35 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 35 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 34 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 34 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 36 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 36 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, neurosensory, autosomal recessive 47 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, neurosensory, autosomal recessive 47 phenotype from the curated OMIM Gene-Disease Associations dataset.
myotonia congenita, recessive Gene Set From OMIM Gene-Disease Associations genes associated with the myotonia congenita, recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 52, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 52, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
candidiasis, familial, 5, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the candidiasis, familial, 5, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 13 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 13 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 12 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 12 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 16 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 16 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 15 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 15 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 14 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 14 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 19 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 19 phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 18 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 18 phenotype from the curated OMIM Gene-Disease Associations dataset.
candidiasis, familial, 4, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the candidiasis, familial, 4, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
hyper-ige recurrent infection syndrome, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the hyper-ige recurrent infection syndrome, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
inflammatory bowel disease 28, early onset, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the inflammatory bowel disease 28, early onset, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
bernard-soulier syndrome, type a1 (recessive) Gene Set From OMIM Gene-Disease Associations genes associated with the bernard-soulier syndrome, type a1 (recessive) phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 14, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 14, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
neutropenia, severe congenital, 5, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital, 5, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
night blindness, congenital stationary (complete), 1e, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the night blindness, congenital stationary (complete), 1e, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 56, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 56, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spinocerebellar ataxia, autosomal recessive 5 Gene Set From OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia, autosomal recessive 5 phenotype from the curated OMIM Gene-Disease Associations dataset.
microcephaly 3, primary, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the microcephaly 3, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
hypophosphatemic rickets, autosomal recessive, 2 Gene Set From OMIM Gene-Disease Associations genes associated with the hypophosphatemic rickets, autosomal recessive, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
?charcot-marie-tooth disease, recessive intermediate, b Gene Set From OMIM Gene-Disease Associations genes associated with the ?charcot-marie-tooth disease, recessive intermediate, b phenotype from the curated OMIM Gene-Disease Associations dataset.
cutis laxa, autosomal recessive, type ic Gene Set From OMIM Gene-Disease Associations genes associated with the cutis laxa, autosomal recessive, type ic phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 35, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 35, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
weill-marchesani syndrome 1, recessive Gene Set From OMIM Gene-Disease Associations genes associated with the weill-marchesani syndrome 1, recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 42 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 42 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 40 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 40 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 46 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 46 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 45 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 45 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 44 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 44 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 48 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 48 phenotype from the curated OMIM Gene-Disease Associations dataset.
corneal endothelial dystrophy 2, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the corneal endothelial dystrophy 2, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
?deafness, autosomal recessive 44 Gene Set From OMIM Gene-Disease Associations genes associated with the ?deafness, autosomal recessive 44 phenotype from the curated OMIM Gene-Disease Associations dataset.
nemaline myopathy 7, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the nemaline myopathy 7, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
cutis laxa, autosomal recessive, type iia Gene Set From OMIM Gene-Disease Associations genes associated with the cutis laxa, autosomal recessive, type iia phenotype from the curated OMIM Gene-Disease Associations dataset.
cutis laxa, autosomal recessive, type iib Gene Set From OMIM Gene-Disease Associations genes associated with the cutis laxa, autosomal recessive, type iib phenotype from the curated OMIM Gene-Disease Associations dataset.
hyperekplexia 2, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the hyperekplexia 2, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
neutropenia, severe congenital 4, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital 4, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
renal tubular acidosis, distal, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the renal tubular acidosis, distal, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 68 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 68 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 61 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 61 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 63 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 63 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 62 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 62 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 65 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 65 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 67 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 67 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 66 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 66 phenotype from the curated OMIM Gene-Disease Associations dataset.
amyotrophic lateral sclerosis 5, juvenile recessive Gene Set From OMIM Gene-Disease Associations genes associated with the amyotrophic lateral sclerosis 5, juvenile recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
epidermolysis bullosa simplex, recessive 1 Gene Set From OMIM Gene-Disease Associations genes associated with the epidermolysis bullosa simplex, recessive 1 phenotype from the curated OMIM Gene-Disease Associations dataset.
nemaline myopathy 3, autosomal dominant or recessive Gene Set From OMIM Gene-Disease Associations genes associated with the nemaline myopathy 3, autosomal dominant or recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
night blindness, congenital stationary (complete), 1d, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the night blindness, congenital stationary (complete), 1d, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 50, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 50, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
?deafness, autosomal recessive 88 Gene Set From OMIM Gene-Disease Associations genes associated with the ?deafness, autosomal recessive 88 phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 44, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 44, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 15, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 15, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 9 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 9 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 2 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 3 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 3 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 6 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 6 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 7 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 7 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness , autosomal recessive 86 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness , autosomal recessive 86 phenotype from the curated OMIM Gene-Disease Associations dataset.
anemia, sideroblastic, pyridoxine-refractory, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the anemia, sideroblastic, pyridoxine-refractory, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 41 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 41 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 25 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 25 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 24 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 24 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 27 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 27 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 26 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 26 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 21 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 21 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 20 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 20 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 23 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 23 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 22 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 22 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 29 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 29 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 28 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 28 phenotype from the curated OMIM Gene-Disease Associations dataset.
mitochondrial recessive ataxia syndrome (includes sando and scae) Gene Set From OMIM Gene-Disease Associations genes associated with the mitochondrial recessive ataxia syndrome (includes sando and scae) phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive, 11 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive, 11 phenotype from the curated OMIM Gene-Disease Associations dataset.
myoglobinuria, acute recurrent, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the myoglobinuria, acute recurrent, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 5 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 5 phenotype from the curated OMIM Gene-Disease Associations dataset.
cataract 18, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the cataract 18, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
thyroid hormone resistance, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the thyroid hormone resistance, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
tetra-amelia, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the tetra-amelia, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
factor xi deficiency, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the factor xi deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
robinow syndrome, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the robinow syndrome, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
retinal degeneration, autosomal recessive, clumped pigment type Gene Set From OMIM Gene-Disease Associations genes associated with the retinal degeneration, autosomal recessive, clumped pigment type phenotype from the curated OMIM Gene-Disease Associations dataset.
?spastic paraplegia 72, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the ?spastic paraplegia 72, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 49, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 49, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
microcephaly 4, primary, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the microcephaly 4, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
parkinson disease 7, autosomal recessive early-onset Gene Set From OMIM Gene-Disease Associations genes associated with the parkinson disease 7, autosomal recessive early-onset phenotype from the curated OMIM Gene-Disease Associations dataset.
osteopetrosis, autosomal recessive 2 Gene Set From OMIM Gene-Disease Associations genes associated with the osteopetrosis, autosomal recessive 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
osteopetrosis, autosomal recessive 1 Gene Set From OMIM Gene-Disease Associations genes associated with the osteopetrosis, autosomal recessive 1 phenotype from the curated OMIM Gene-Disease Associations dataset.
osteopetrosis, autosomal recessive 7 Gene Set From OMIM Gene-Disease Associations genes associated with the osteopetrosis, autosomal recessive 7 phenotype from the curated OMIM Gene-Disease Associations dataset.
osteopetrosis, autosomal recessive 6 Gene Set From OMIM Gene-Disease Associations genes associated with the osteopetrosis, autosomal recessive 6 phenotype from the curated OMIM Gene-Disease Associations dataset.
osteopetrosis, autosomal recessive 5 Gene Set From OMIM Gene-Disease Associations genes associated with the osteopetrosis, autosomal recessive 5 phenotype from the curated OMIM Gene-Disease Associations dataset.
osteopetrosis, autosomal recessive 4 Gene Set From OMIM Gene-Disease Associations genes associated with the osteopetrosis, autosomal recessive 4 phenotype from the curated OMIM Gene-Disease Associations dataset.
osteopetrosis, autosomal recessive 8 Gene Set From OMIM Gene-Disease Associations genes associated with the osteopetrosis, autosomal recessive 8 phenotype from the curated OMIM Gene-Disease Associations dataset.
woolly hair, autosomal recessive 2 with or without hypotrichosis Gene Set From OMIM Gene-Disease Associations genes associated with the woolly hair, autosomal recessive 2 with or without hypotrichosis phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 7, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 7, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spondylocostal dysostosis 4, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spondylocostal dysostosis 4, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 54, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 54, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 83 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 83 phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 89 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 89 phenotype from the curated OMIM Gene-Disease Associations dataset.
corneal clouding, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the corneal clouding, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
?microcephaly 12, primary, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the ?microcephaly 12, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
microcephaly 7, primary, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the microcephaly 7, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
segawa syndrome, recessive Gene Set From OMIM Gene-Disease Associations genes associated with the segawa syndrome, recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
microcephaly and chorioretinopathy, autosomal recessive, 2 Gene Set From OMIM Gene-Disease Associations genes associated with the microcephaly and chorioretinopathy, autosomal recessive, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.
microcephaly and chorioretinopathy, autosomal recessive, 1 Gene Set From OMIM Gene-Disease Associations genes associated with the microcephaly and chorioretinopathy, autosomal recessive, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.
?microcephaly 13, primary, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the ?microcephaly 13, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
ataxia, spastic, 5, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the ataxia, spastic, 5, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
?spastic paraplegia 61, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the ?spastic paraplegia 61, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spastic paraplegia 48, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the spastic paraplegia 48, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
cornea plana congenita, recessive Gene Set From OMIM Gene-Disease Associations genes associated with the cornea plana congenita, recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
?spastic paraplegia 57, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the ?spastic paraplegia 57, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
oculodentodigital dysplasia, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the oculodentodigital dysplasia, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
mental retardation, autosomal recessive 1 Gene Set From OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 1 phenotype from the curated OMIM Gene-Disease Associations dataset.
?spondylocostal dysostosis 3, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the ?spondylocostal dysostosis 3, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
phosphorylase kinase deficiency of liver and muscle, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the phosphorylase kinase deficiency of liver and muscle, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
candidiasis, familial, 2, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the candidiasis, familial, 2, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
deafness, autosomal recessive 49 Gene Set From OMIM Gene-Disease Associations genes associated with the deafness, autosomal recessive 49 phenotype from the curated OMIM Gene-Disease Associations dataset.
macrocephaly/megalencephaly syndrome, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the macrocephaly/megalencephaly syndrome, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
progressive external ophthalmoplegia, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the progressive external ophthalmoplegia, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
nemaline myopathy 2, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the nemaline myopathy 2, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
cataract 38, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the cataract 38, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
?agammaglobulinemia 7, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the ?agammaglobulinemia 7, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
?microcephaly 10, primary, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the ?microcephaly 10, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
spinocerebellar ataxia, autosomal recessive with axonal neuropathy Gene Set From OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia, autosomal recessive with axonal neuropathy phenotype from the curated OMIM Gene-Disease Associations dataset.
?mental retardation, autosomal recessive, 37 Gene Set From OMIM Gene-Disease Associations genes associated with the ?mental retardation, autosomal recessive, 37 phenotype from the curated OMIM Gene-Disease Associations dataset.
persistent hyperplastic primary vitreous, autosomal recessive Gene Set From OMIM Gene-Disease Associations genes associated with the persistent hyperplastic primary vitreous, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.
auditory neuropathy, autosomal recessive, 1 Gene Set From OMIM Gene-Disease Associations genes associated with the auditory neuropathy, autosomal recessive, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.
Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3) Gene Set From Reactome Pathways 2014 proteins participating in the Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3) pathway from the Reactome Pathways dataset.
Defective CYP2U1 causes Spastic paraplegia 56, autosomal recessive (SPG56) Gene Set From Reactome Pathways 2014 proteins participating in the Defective CYP2U1 causes Spastic paraplegia 56, autosomal recessive (SPG56) pathway from the Reactome Pathways dataset.
Alacrima, Congenital, Autosomal Recessive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Alacrima, Congenital, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Retinitis Pigmentosa Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Retinitis Pigmentosa in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Polycystic Kidney Disease Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Polycystic Kidney Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Centronuclear Myopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Centronuclear Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Vah, Autosomal Recessive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Vah, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Osteopetrosis Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Osteopetrosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Hereditary Spastic Paraplegia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Hereditary Spastic Paraplegia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Hyperimmunoglobulin M Syndrome Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Hyperimmunoglobulin M Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Primary Microcephaly Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Primary Microcephaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Parkinsonism Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Parkinsonism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Microphthalmos, Autosomal Recessive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Microphthalmos, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Familial Dystonia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Familial Dystonia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Craniometaphyseal Dysplasia, Autosomal Recessive Type Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Craniometaphyseal Dysplasia, Autosomal Recessive Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Indifference To Pain, Congenital, Autosomal Recessive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Indifference To Pain, Congenital, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Persistent Hyperplastic Primary Vitreous, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Severe Autosomal Recessive Muscular Dystrophy Of Childhood - North African Type (Disorder) Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Severe Autosomal Recessive Muscular Dystrophy Of Childhood - North African Type (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Agammaglobulinemia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Agammaglobulinemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Complement Component 3 Deficiency, Autosomal Recessive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Complement Component 3 Deficiency, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Limb Girdle Muscular Dystrophy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Limb Girdle Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Scid Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Scid in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Albers-Schonberg Disease, Autosomal Recessive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Albers-Schonberg Disease, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Cerebral Autosomal Recessive Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Cerebral Autosomal Recessive Arteriopathy With Subcortical Infarcts And Leukoencephalopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Alport Syndrome, Autosomal Recessive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Alport Syndrome, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Alport Syndrome, Recessive Type Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Alport Syndrome, Recessive Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Myosclerosis, Autosomal Recessive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Myosclerosis, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Centripetalis Recessive Dystrophic Epidermolysis Bullosa Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Centripetalis Recessive Dystrophic Epidermolysis Bullosa in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Localized Recessive Dystrophic Epidermolysis Bullosa Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Localized Recessive Dystrophic Epidermolysis Bullosa in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Severe Generalized Recessive Dystrophic Epidermolysis Bullosa Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Severe Generalized Recessive Dystrophic Epidermolysis Bullosa in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Hypophosphatemic Vitamin D Refractory Rickets Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Hypophosphatemic Vitamin D Refractory Rickets in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Congenital Methemoglobinemia Type I Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Congenital Methemoglobinemia Type I in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Chronic Granulomatous Disease Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Chronic Granulomatous Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Severe Childhood Autosomal Recessive Muscular Dystrophy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Severe Childhood Autosomal Recessive Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Emery-Dreifuss Muscular Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Thyroid Hormone Resistance, Generalized, Autosomal Recessive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Thyroid Hormone Resistance, Generalized, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Facio-Digito-Genital Syndrome Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Facio-Digito-Genital Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Bpes, Type I, Autosomal Recessive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Bpes, Type I, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
L-Ferritin Deficiency, Autosomal Recessive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease L-Ferritin Deficiency, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Recessive Sensorineural Hearing Loss Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Recessive Sensorineural Hearing Loss in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Sideroblastic Anemia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Sideroblastic Anemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Myoglobinuria, Acute Recurrent, Autosomal Recessive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Myoglobinuria, Acute Recurrent, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Spastic Paraplegia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Spastic Paraplegia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Klippel Feil Syndrome Recessive Type Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Klippel Feil Syndrome Recessive Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Colorectal Adenomatous Polyposis, Autosomal Recessive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Colorectal Adenomatous Polyposis, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Dyskeratosis Congenita, Autosomal Recessive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Dyskeratosis Congenita, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Robinow Syndrome, Autosomal Recessive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Robinow Syndrome, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Ocular Albinism Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Ocular Albinism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Mandibulofacial Dysostosis, Treacher Collins Type, Autosomal Recessive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Mandibulofacial Dysostosis, Treacher Collins Type, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Lower Motor Neuron Disease With Childhood Onset Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Lower Motor Neuron Disease With Childhood Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Cutis Laxa Type 2B Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Cutis Laxa Type 2B in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Fundus Albipunctatus, Autosomal Recessive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Fundus Albipunctatus, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Central Core Disease, Autosomal Recessive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Central Core Disease, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Alpha-1-Antitrypsin Deficiency, Autosomal Recessive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Alpha-1-Antitrypsin Deficiency, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Spectrin-Associated Autosomal Recessive Cerebellar Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Cerebellar Ataxia Type 1 Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Cerebellar Ataxia Type 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Autosomal Recessive Cerebral Atrophy Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Autosomal Recessive Cerebral Atrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Tetraamelia Syndrome, Autosomal Recessive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Tetraamelia Syndrome, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Spondyloocular Syndrome, Autosomal Recessive Gene Set From DisGeNET Gene-Disease Associations genes associated with the disease Spondyloocular Syndrome, Autosomal Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
Auditory Neuropathy, Nonsyndromic Recessive Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Auditory Neuropathy, Nonsyndromic Recessive in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Autosomal recessive osteopetrosis pathways Gene Set From WikiPathways Pathways 2024 proteins participating in the Autosomal recessive osteopetrosis pathways pathway from the WikiPathways Pathways 2024 dataset.
Defective SLCO2A1 causes primary, autosomal recessive hypertrophic osteoarthropathy 2 (PHOAR2) Gene Set From Reactome Pathways 2024 proteins participating in the Defective SLCO2A1 causes primary, autosomal recessive hypertrophic osteoarthropathy 2 (PHOAR2) pathway from the Reactome Pathways 2024 dataset.
Autosomal recessive disease Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Autosomal recessive disease from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Autosomal recessive cerebellar ataxia Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Autosomal recessive cerebellar ataxia from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Autosomal recessive distal hereditary motor neuronopathy 1 Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Autosomal recessive distal hereditary motor neuronopathy 1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Autosomal recessive distal hereditary motor neuronopathy Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Autosomal recessive distal hereditary motor neuronopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Primary autosomal recessive microcephaly Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Primary autosomal recessive microcephaly from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Autosomal recessive intellectual developmental disorder Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Autosomal recessive intellectual developmental disorder from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Otospondylomegaepiphyseal dysplasia, autosomal recessive Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Otospondylomegaepiphyseal dysplasia, autosomal recessive from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Autosomal recessive spinocerebellar ataxia 8 Gene Set From DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Autosomal recessive spinocerebellar ataxia 8 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
Autosomal recessive disease Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal recessive cutis laxa type IIA Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive cutis laxa type IIA in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal recessive cutis laxa type II classic type Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive cutis laxa type II classic type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
Autosomal recessive polycystic kidney disease Gene Set From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal recessive polycystic kidney disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Harmonizome 3.0

MRT28 Gene

MRT24 Gene

MRT23 Gene

MRT10 Gene

MRT17 Gene

MRT11 Gene

MRT19 Gene

MRT8 Gene

MRT9 Gene

MRT25 Gene

MRT4 Gene

MRT27 Gene

OPA6 Gene

OPA3 Gene

SPG27 Gene

SPG25 Gene

SPG24 Gene

SPG21 Gene

SPG23 Gene

MRT29 Gene

DFNB45 Gene

DFNB20 Gene

DFNB26 Gene

DFNB27 Gene

MYP18 Gene

CMR2A Gene

HOAC Gene

MRT16 Gene

DFNB75 Gene

SCAR2 Gene

SCAR3 Gene

DFNB81 Gene

CTRCT34 Gene

CTRCT35 Gene

PKHD1L1 Gene

SPG45 Gene

SPG7 Gene

DFNB62 Gene

DFNB60 Gene

DFNB68 Gene

DFNB69 Gene

SPG11 Gene

DYT2 Gene

DFNB85 Gene

DFNB83 Gene

SPG14 Gene

USH2A Gene

MRT33 Gene

MRT32 Gene

MRT31 Gene

MRT30 Gene

MRT35 Gene

DFNB59 Gene

DFNB57 Gene

DFNB56 Gene

DFNB55 Gene

ECB2 Gene

RP22 Gene

RP29 Gene

MHB Gene

ICR3 Gene

CIRH1A Gene

RP32 Gene

DFNB66 Gene

DFNB65 Gene

DFNM1 Gene

DFNB58 Gene

DFNB50 Gene

DFNB71 Gene

USH1K Gene

SMAR Gene

DFNB5 Gene

SPAX3 Gene

DFNB38 Gene

DFNB31 Gene

DFNB33 Gene

DFNB32 Gene

DFNB34 Gene

DFNB19 Gene