| Name |
|---|
LGALS17A GeneCharcot-Leyden crystal protein pseudogene |
CLC GeneCharcot-Leyden crystal galectin Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene is a lysophospholipase expressed in eosinophils and basophils. It hydrolyzes lysophosphatidylcholine to glycerophosphocholine and a free fatty acid. This protein may possess carbohydrate or IgE-binding activities. It is both structurally and functionally related to the galectin family of beta-galactoside binding proteins. It may be associated with inflammation and some myeloid leukemias. [provided by RefSeq, Jul 2008] |
HMSN5 GeneHereditary motor and sensory neuropathy V |
NMSR GeneNeuropathy, hereditary motor and sensory, Russe type |
SPOAN Genespastic paraplegia, optic atrophy, and neuropathy |
HSN1B GeneHereditary sensory neuropathy, type IB |
HMNJ GeneDistal hereditary motor neuropathy, Jerash type |
CLCP1 GeneCharcot-Leyden crystal protein pseudogene 1 |
CLCP2 GeneCharcot-Leyden crystal protein pseudogene 2 |
HMSNO GeneNeuropathy, hereditary motor and sensory, Okinawa type |
OPA6 Geneoptic atrophy 6 (autosomal recessive) |
OPA3 Geneoptic 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 Genespastic paraplegia 27 (autosomal recessive) |
SPG25 Genespastic paraplegia 25 (autosomal recessive, with disc herniation) |
SPG24 Genespastic paraplegia 24 (autosomal recessive) |
SPG21 Genespastic 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 Genespastic paraplegia 23 (autosomal recessive) |
MRT28 Genemental retardation, non-syndromic, autosomal recessive, 28 |
MRT29 GeneMental retardation, autosomal recessive 29 |
MRT24 Genemental retardation, non-syndromic, autosomal recessive, 24 |
MRT23 Genemental retardation, non-syndromic, autosomal recessive, 23 |
DFNB45 Genedeafness, autosomal recessive 45 |
MRT10 Genemental retardation, non-syndromic, autosomal recessive, 10 |
DFNB20 Genedeafness, autosomal recessive 20 |
DFNB26 Genedeafness, autosomal recessive 26 |
DFNB27 Genedeafness, autosomal recessive 27 |
MYP18 Genemyopia 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 Genecardiomyopathy, restrictive 2A (autosomal recessive) |
HOAC Genehypoacusis 2 (autosomal recessive) |
MRT17 Genemental retardation, non-syndromic, autosomal recessive, 17 |
MRT16 GeneMental retardation, autosomal recessive 16 |
MRT11 Genemental retardation, non-syndromic, autosomal recessive, 11 |
MRT19 Genemental retardation, non-syndromic, autosomal recessive, 19 |
DFNB75 Genedeafness, autosomal recessive 75 |
SCAR2 Genespinocerebellar ataxia, autosomal recessive 2 |
SCAR3 Genespinocerebellar ataxia, autosomal recessive 3 |
DFNB81 Genedeafness, autosomal recessive 81 |
CTRCT34 GeneCataract, autosomal recessive congenital 3 |
CTRCT35 Genecataract, congenital nuclear, autosomal recessive |
MRT8 Genemental retardation, non-syndromic, autosomal recessive, 8 |
MRT9 Genemental retardation, non-syndromic, autosomal recessive, 9 |
PKHD1L1 Genepolycystic 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 Genespastic paraplegia 45 (autosomal recessive) |
SPG7 Genespastic 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 Genedeafness, autosomal recessive 62 |
DFNB60 Genedeafness, autosomal recessive 60 |
DFNB68 Genedeafness, autosomal recessive 68 |
DFNB69 Genedeafness, autosomal recessive 69 |
SPG11 Genespastic 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 Genedystonia 2, torsion (autosomal recessive) |
MRT25 Genemental retardation, non-syndromic, autosomal recessive, 25 |
MRT4 Genemental retardation, non-syndromic, autosomal recessive, 4 |
DFNB85 Genedeafness, 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 Genedeafness, 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 Genespastic paraplegia 14 (autosomal recessive) |
USH2A GeneUsher 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 GeneMental retardation, autosomal recessive 33 |
MRT32 GeneMental retardation, autosomal recessive 32 |
MRT31 GeneMental retardation, autosomal recessive 31 |
MRT30 GeneMental retardation, autosomal recessive 30 |
MRT35 GeneMental retardation, autosomal recessive 35 |
MRT27 Genemental retardation, non-syndromic, autosomal recessive, 27 |
DFNB59 Genedeafness, 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 Genedeafness, autosomal recessive 57 |
DFNB56 Genedeafness, autosomal recessive 56 |
DFNB55 Genedeafness, autosomal recessive 55 |
ECB2 Geneerythrocytosis, autosomal recessive benign 2 |
RP22 Generetinitis pigmentosa 22 (autosomal recessive) |
RP29 Generetinitis pigmentosa 29 (autosomal recessive) |
MHB Genemyopathy, hyaline body, autosomal recessive |
ICR3 Geneichthyosis congenita III, vulgaris-like recessive ichthyosis |
CIRH1A Genecirrhosis, 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 Generetinitis pigmentosa 32 (autosomal recessive) |
DFNB66 Genedeafness, autosomal recessive 66 |
DFNB65 Genedeafness, autosomal recessive 65 |
DFNM1 Genedeafness (recessive, nonsyndromic) modifier 1 |
DFNB58 Genedeafness, autosomal recessive 58 |
DFNB50 Genedeafness, autosomal recessive 50 |
DFNB71 Genedeafness, autosomal recessive 71 |
USH1K GeneUsher syndrome 1K (autosomal recessive) |
SMAR GeneSpinal muscular atrophy, chronic distal, autosomal recessive |
DFNB5 Genedeafness, autosomal recessive 5 |
SPAX3 GeneAtaxia, spastic, 3, autosomal recessive |
DFNB38 Genedeafness, autosomal recessive 38 |
DFNB31 Genedeafness, 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 Genedeafness, autosomal recessive 33 |
DFNB32 Genedeafness, autosomal recessive 32 |
DFNB34 Genedeafness, autosomal recessive 34 |
DFNB19 Genedeafness, autosomal recessive 19 |
DFNB44 Genedeafness, autosomal recessive 44 |
USH1H GeneUsher syndrome 1H (autosomal recessive) |
USH1C GeneUsher 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 GeneUsher 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 GeneUsher syndrome 1E (autosomal recessive, severe) |
DFNB43 Genedeafness, autosomal recessive 43 |
DFNB46 Genedeafness, autosomal recessive 46 |
CTPL1 Genecataract, pulverulent (autosomal recessive, early-onset) |
DFNB40 Genedeafness, autosomal recessive 40 |
DFNB47 Genedeafness, autosomal recessive 47 |
SPG32 Genespastic paraplegia 32 (autosomal recessive) |
DFNB51 Genedeafness, autosomal recessive 51 |
OA3 Geneocular albinism 3 (autosomal recessive) |
MCOP1 Genemicrophthalmia, autosomal recessive |
SPG5B Genespastic paraplegia 5B (autosomal recessive) |
ARCI9 GeneIchthyosis, congenital, autosomal recessive 9 |
ARCI7 GeneIchthyosis, congenital, autosomal recessive 7 |
PKHD1 Genepolycystic 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 Genedeafness, autosomal recessive 13 |
DFNB17 Genedeafness, autosomal recessive 17 |
DFNB14 Genedeafness, autosomal recessive 14 |
HYD2 Genehypodontia 2 (autosomal recessive) |
OCA5 Geneoculocutaneous albinism 5 (autosomal recessive) |
DFNB96 Genedeafness, autosomal recessive 96 |
charcot-marie-tooth neuropathy, x-linked recessive, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the charcot-marie-tooth neuropathy, x-linked recessive, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive Gene SetFrom 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. |
Auditory neuropathy, autosomal recessive, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Auditory neuropathy, autosomal recessive, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spinocerebellar ataxia autosomal recessive with axonal neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spinocerebellar ataxia autosomal recessive with axonal neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy Gene SetFrom 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. |
Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive Gene SetFrom 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. |
neuromyotonia and axonal neuropathy, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the neuromyotonia and axonal neuropathy, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinocerebellar ataxia, autosomal recessive with axonal neuropathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia, autosomal recessive with axonal neuropathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
auditory neuropathy, autosomal recessive, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the auditory neuropathy, autosomal recessive, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
Auditory Neuropathy, Nonsyndromic Recessive Gene SetFrom 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 axonal neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal recessive axonal neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
charcot Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term charcot in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Charcot Gait Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Charcot Gait in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Trifunctional protein deficiency with myopathy and neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Trifunctional protein deficiency with myopathy and neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Giant axonal neuropathy, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Giant axonal neuropathy, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene SetFrom 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. |
Congenital sensory neuropathy with selective loss of small myelinated fibers Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital sensory neuropathy with selective loss of small myelinated fibers phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neuropathy hereditary sensory and autonomic type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neuropathy hereditary sensory and autonomic type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Peripheral neuropathy, myopathy, hoarseness, and hearing loss Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peripheral neuropathy, myopathy, hoarseness, and hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neuropathy, hereditary motor and sensory, Okinawa type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neuropathy, hereditary motor and sensory, Okinawa type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY, TYPE IE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the NEUROPATHY, HEREDITARY SENSORY, TYPE IE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY, TYPE ID Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the NEUROPATHY, HEREDITARY SENSORY, TYPE ID phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY, TYPE IF Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the NEUROPATHY, HEREDITARY SENSORY, TYPE IF phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary motor and sensory neuropathy with optic atrophy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary motor and sensory neuropathy with optic atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
46,XY gonadal dysgenesis, partial, with minifascicular neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY, TYPE IC Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the NEUROPATHY, HEREDITARY SENSORY, TYPE IC phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neuropathy, congenital hypomyelinating, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neuropathy, congenital hypomyelinating, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary sensory and autonomic neuropathy type IIA Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary sensory and autonomic neuropathy type IIA phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital Cataracts, Facial Dysmorphism, and Neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital Cataracts, Facial Dysmorphism, and Neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Giant axonal neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Giant axonal neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO from the curated CTD Gene-Disease Associations dataset. |
Hereditary Sensory and Motor Neuropathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hereditary Sensory and Motor Neuropathy from the curated CTD Gene-Disease Associations dataset. |
Neuropathy, Hereditary Sensory And Autonomic, Type IIB Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neuropathy, Hereditary Sensory And Autonomic, Type IIB from the curated CTD Gene-Disease Associations dataset. |
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene SetFrom 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. |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease from the curated CTD Gene-Disease Associations dataset. |
Neuropathy, hereditary motor and sensory, Russe type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neuropathy, hereditary motor and sensory, Russe type from the curated CTD Gene-Disease Associations dataset. |
Neuropathy, Distal Hereditary Motor, Type IIA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neuropathy, Distal Hereditary Motor, Type IIA from the curated CTD Gene-Disease Associations dataset. |
Trifunctional Protein Deficiency With Myopathy And Neuropathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Trifunctional Protein Deficiency With Myopathy And Neuropathy from the curated CTD Gene-Disease Associations dataset. |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital Cataracts, Facial Dysmorphism, And Neuropathy from the curated CTD Gene-Disease Associations dataset. |
Sciatic Neuropathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Sciatic Neuropathy from the curated CTD Gene-Disease Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA from the curated CTD Gene-Disease Associations dataset. |
Hereditary Motor And Sensory Neuropathy, Type IIC Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hereditary Motor And Sensory Neuropathy, Type IIC from the curated CTD Gene-Disease Associations dataset. |
Hereditary Motor And Sensory Neuropathy VI Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Hereditary Motor And Sensory Neuropathy VI from the curated CTD Gene-Disease Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA from the curated CTD Gene-Disease Associations dataset. |
Neuropathy, hereditary motor and sensory, Okinawa type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neuropathy, hereditary motor and sensory, Okinawa type from the curated CTD Gene-Disease Associations dataset. |
Spastic Paraplegia, Optic Atrophy, and Neuropathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spastic Paraplegia, Optic Atrophy, and Neuropathy from the curated CTD Gene-Disease Associations dataset. |
LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY from the curated CTD Gene-Disease Associations dataset. |
Tomaculous neuropathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Tomaculous neuropathy from the curated CTD Gene-Disease Associations dataset. |
Sensorimotor neuropathy with ataxia, autosomal dominant Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Sensorimotor neuropathy with ataxia, autosomal dominant from the curated CTD Gene-Disease Associations dataset. |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC from the curated CTD Gene-Disease Associations dataset. |
46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy from the curated CTD Gene-Disease Associations dataset. |
Giant Axonal Neuropathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Giant Axonal Neuropathy from the curated CTD Gene-Disease Associations dataset. |
Auditory Neuropathy, Autosomal Dominant, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Auditory Neuropathy, Autosomal Dominant, 1 from the curated CTD Gene-Disease Associations dataset. |
Neuropathy, Distal Hereditary Motor, Type VIIA Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neuropathy, Distal Hereditary Motor, Type VIIA from the curated CTD Gene-Disease Associations dataset. |
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux from the curated CTD Gene-Disease Associations dataset. |
Optic Neuropathy, Ischemic Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Optic Neuropathy, Ischemic from the curated CTD Gene-Disease Associations dataset. |
Neuropathy, hereditary motor and sensory, LOM type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neuropathy, hereditary motor and sensory, LOM type from the curated CTD Gene-Disease Associations dataset. |
Inherited Peripheral Neuropathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Inherited Peripheral Neuropathy from the curated CTD Gene-Disease Associations dataset. |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis from the curated CTD Gene-Disease Associations dataset. |
peripheral neuropathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease peripheral neuropathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
brachial plexus neuropathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease brachial plexus neuropathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
hereditary sensory neuropathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease hereditary sensory neuropathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
neuropathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease neuropathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
brachial plexus neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease brachial plexus neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
hereditary sensory neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease hereditary sensory neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
inflammatory and toxic neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease inflammatory and toxic neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
autonomic peripheral neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease autonomic peripheral neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
sciatic neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease sciatic neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
alcoholic neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease alcoholic neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
peripheral neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease peripheral neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
tibial neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease tibial neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
toxic optic neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease toxic optic neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
sensory peripheral neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease sensory peripheral neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
asymmetric motor neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease asymmetric motor neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
diabetic autonomic neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease diabetic autonomic neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
uremic neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease uremic neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
femoral neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease femoral neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
leber hereditary optic neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease leber hereditary optic neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
distal hereditary motor neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease distal hereditary motor neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
axonal neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease axonal neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
peroneal neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease peroneal neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
anterior ischemic optic neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease anterior ischemic optic neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
median neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease median neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
radial neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease radial neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
motor peripheral neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease motor peripheral neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
ischemic neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease ischemic neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
diabetic neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease diabetic neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
autonomic neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease autonomic neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
ulnar neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease ulnar neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
neuropathy, hereditary motor and sensory Gene SetFrom GAD Gene-Disease Associations genes associated with the disease neuropathy, hereditary motor and sensory in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
diabetic neuropathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease diabetic neuropathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
blood coagulation disorders; cardiovascular diseases; optic neuropathy, ischemic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease blood coagulation disorders; cardiovascular diseases; optic neuropathy, ischemic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
atherosclerosis; hyperlipidemias; hypertension; optic neuropathy, ischemic; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease atherosclerosis; hyperlipidemias; hypertension; optic neuropathy, ischemic; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
leber's hereditary optic neuropathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease leber's hereditary optic neuropathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alcoholic neuropathy; alcoholism; folic acid deficiency; hyperhomocysteinemia; liver diseases, alcoholic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alcoholic neuropathy; alcoholism; folic acid deficiency; hyperhomocysteinemia; liver diseases, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
spinocerebellar ataxia; muscular dystrophy; neuropathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease spinocerebellar ataxia; muscular dystrophy; neuropathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
nephropathy, diabetic; retinopathy, diabetic; neuropathy, diabetic; microalbuminuria, diabetic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease nephropathy, diabetic; retinopathy, diabetic; neuropathy, diabetic; microalbuminuria, diabetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
neuropathy, alzheimer's disease related Gene SetFrom GAD Gene-Disease Associations genes associated with the disease neuropathy, alzheimer's disease related in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
neuropathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease neuropathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
neuropathy, diabetic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease neuropathy, diabetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
alcohol-related polyneuropathy; alcoholic neuropathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease alcohol-related polyneuropathy; alcoholic neuropathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dementia; neuropathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dementia; neuropathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
neuropathy, small fiber Gene SetFrom GAD Gene-Disease Associations genes associated with the disease neuropathy, small fiber in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
hyperhomocysteinemia; optic neuropathy, ischemic Gene SetFrom GAD Gene-Disease Associations genes associated with the disease hyperhomocysteinemia; optic neuropathy, ischemic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
dejerine-sottas neuropathy Gene SetFrom GAD Gene-Disease Associations genes associated with the disease dejerine-sottas neuropathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
neuropathy Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term neuropathy in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 3 peripheral neuropathy) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 3 peripheral neuropathy) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 1 peripheral neuropathy) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 1 peripheral neuropathy) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Paclitaxel-induced neuropathy Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Paclitaxel-induced neuropathy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 2 peripheral neuropathy) Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 2 peripheral neuropathy) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
peripheral neuropathy Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease peripheral neuropathy in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
sensory peripheral neuropathy Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease sensory peripheral neuropathy in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
neuropathy Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease neuropathy in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
peripheral neuropathy Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the peripheral neuropathy phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
sensory neuropathy Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the sensory neuropathy phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
sensory axonal neuropathy Gene SetFrom HPO Gene-Disease Associations genes associated with the sensory axonal neuropathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
chronic axonal neuropathy Gene SetFrom HPO Gene-Disease Associations genes associated with the chronic axonal neuropathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
peripheral axonal neuropathy Gene SetFrom HPO Gene-Disease Associations genes associated with the peripheral axonal neuropathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
optic neuropathy Gene SetFrom HPO Gene-Disease Associations genes associated with the optic neuropathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
demyelinating motor neuropathy Gene SetFrom HPO Gene-Disease Associations genes associated with the demyelinating motor neuropathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
motor axonal neuropathy Gene SetFrom HPO Gene-Disease Associations genes associated with the motor axonal neuropathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
demyelinating peripheral neuropathy Gene SetFrom HPO Gene-Disease Associations genes associated with the demyelinating peripheral neuropathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
sensory ataxic neuropathy Gene SetFrom HPO Gene-Disease Associations genes associated with the sensory ataxic neuropathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
progressive peripheral neuropathy Gene SetFrom HPO Gene-Disease Associations genes associated with the progressive peripheral neuropathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) Gene SetFrom HPO Gene-Disease Associations genes associated with the osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
entrapment neuropathy Gene SetFrom HPO Gene-Disease Associations genes associated with the entrapment neuropathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
peripheral neuropathy Gene SetFrom HPO Gene-Disease Associations genes associated with the peripheral neuropathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
sensorimotor neuropathy Gene SetFrom HPO Gene-Disease Associations genes associated with the sensorimotor neuropathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
constrictive median neuropathy Gene SetFrom HPO Gene-Disease Associations genes associated with the constrictive median neuropathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
episodic peripheral neuropathy Gene SetFrom HPO Gene-Disease Associations genes associated with the episodic peripheral neuropathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
nonarteritic anterior ischemic optic neuropathy Gene SetFrom HPO Gene-Disease Associations genes associated with the nonarteritic anterior ischemic optic neuropathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
sensory neuropathy Gene SetFrom HPO Gene-Disease Associations genes associated with the sensory neuropathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
distal peripheral sensory neuropathy Gene SetFrom HPO Gene-Disease Associations genes associated with the distal peripheral sensory neuropathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Hereditary Sensory and Motor Neuropathy Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Hereditary Sensory and Motor Neuropathy phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Alcoholic Neuropathy Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Alcoholic Neuropathy phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Median Neuropathy Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Median Neuropathy phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Optic Neuropathy, Ischemic Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Optic Neuropathy, Ischemic phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
optic neuropathy Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the optic neuropathy phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
?neuropathy, hereditary sensory and autonomic, type vi Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?neuropathy, hereditary sensory and autonomic, type vi phenotype from the curated OMIM Gene-Disease Associations dataset. |
neuropathy, hereditary sensory, with spastic paraplegia Gene SetFrom OMIM Gene-Disease Associations genes associated with the neuropathy, hereditary sensory, with spastic paraplegia phenotype from the curated OMIM Gene-Disease Associations dataset. |
neuropathy, hereditary sensory and autonomic, type ia Gene SetFrom OMIM Gene-Disease Associations genes associated with the neuropathy, hereditary sensory and autonomic, type ia phenotype from the curated OMIM Gene-Disease Associations dataset. |
neuropathy, hereditary sensory and autonomic, type ic Gene SetFrom OMIM Gene-Disease Associations genes associated with the neuropathy, hereditary sensory and autonomic, type ic phenotype from the curated OMIM Gene-Disease Associations dataset. |
neuropathy, hereditary sensory and autonomic, type ii Gene SetFrom OMIM Gene-Disease Associations genes associated with the neuropathy, hereditary sensory and autonomic, type ii phenotype from the curated OMIM Gene-Disease Associations dataset. |
neuropathy, congenital hypomyelinating, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the neuropathy, congenital hypomyelinating, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
neuropathy, hereditary sensory, type iic Gene SetFrom OMIM Gene-Disease Associations genes associated with the neuropathy, hereditary sensory, type iic phenotype from the curated OMIM Gene-Disease Associations dataset. |
neuropathy, hereditary sensory and autonomic, type iib Gene SetFrom OMIM Gene-Disease Associations genes associated with the neuropathy, hereditary sensory and autonomic, type iib phenotype from the curated OMIM Gene-Disease Associations dataset. |
giant axonal neuropathy-1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the giant axonal neuropathy-1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
neuropathy, paraneoplastic sensory Gene SetFrom OMIM Gene-Disease Associations genes associated with the neuropathy, paraneoplastic sensory phenotype from the curated OMIM Gene-Disease Associations dataset. |
neuropathy, motor and sensory, russe type Gene SetFrom OMIM Gene-Disease Associations genes associated with the neuropathy, motor and sensory, russe type phenotype from the curated OMIM Gene-Disease Associations dataset. |
neuropathy, distal hereditary motor, jerash type Gene SetFrom OMIM Gene-Disease Associations genes associated with the neuropathy, distal hereditary motor, jerash type phenotype from the curated OMIM Gene-Disease Associations dataset. |
hereditary motor and sensory neuropathy v Gene SetFrom OMIM Gene-Disease Associations genes associated with the hereditary motor and sensory neuropathy v phenotype from the curated OMIM Gene-Disease Associations dataset. |
auditory neuropathy, autosomal dominant, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the auditory neuropathy, autosomal dominant, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
46xy partial gonadal dysgenesis, with minifascicular neuropathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the 46xy partial gonadal dysgenesis, with minifascicular neuropathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
neuropathy, hereditary sensory, type ie Gene SetFrom OMIM Gene-Disease Associations genes associated with the neuropathy, hereditary sensory, type ie phenotype from the curated OMIM Gene-Disease Associations dataset. |
neuropathy, hereditary sensory, type id Gene SetFrom OMIM Gene-Disease Associations genes associated with the neuropathy, hereditary sensory, type id phenotype from the curated OMIM Gene-Disease Associations dataset. |
neuropathy, hereditary sensory, type if Gene SetFrom OMIM Gene-Disease Associations genes associated with the neuropathy, hereditary sensory, type if phenotype from the curated OMIM Gene-Disease Associations dataset. |
neuropathy, hereditary sensory, type ib Gene SetFrom OMIM Gene-Disease Associations genes associated with the neuropathy, hereditary sensory, type ib phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital cataracts, facial dysmorphism, and neuropathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital cataracts, facial dysmorphism, and neuropathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
agenesis of the corpus callosum with peripheral neuropathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the agenesis of the corpus callosum with peripheral neuropathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
spastic paraplegia, optic atrophy, and neuropathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the spastic paraplegia, optic atrophy, and neuropathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
{nonarteritic anterior ischemic optic neuropathy, susceptibility to} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {nonarteritic anterior ischemic optic neuropathy, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset. |
small fiber neuropathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the small fiber neuropathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
neuropathy, hereditary motor and sensory, russe type Gene SetFrom OMIM Gene-Disease Associations genes associated with the neuropathy, hereditary motor and sensory, russe type phenotype from the curated OMIM Gene-Disease Associations dataset. |
deafness, autosomal dominant, with peripheral neuropathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the deafness, autosomal dominant, with peripheral neuropathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
hereditary motor and sensory neuropathy, proximal type Gene SetFrom OMIM Gene-Disease Associations genes associated with the hereditary motor and sensory neuropathy, proximal type phenotype from the curated OMIM Gene-Disease Associations dataset. |
neuropathy, distal hereditary motor, type va Gene SetFrom OMIM Gene-Disease Associations genes associated with the neuropathy, distal hereditary motor, type va phenotype from the curated OMIM Gene-Disease Associations dataset. |
hereditary motor and sensory neuropathy, type iic Gene SetFrom OMIM Gene-Disease Associations genes associated with the hereditary motor and sensory neuropathy, type iic phenotype from the curated OMIM Gene-Disease Associations dataset. |
neuropathy, recurrent, with pressure palsies Gene SetFrom OMIM Gene-Disease Associations genes associated with the neuropathy, recurrent, with pressure palsies phenotype from the curated OMIM Gene-Disease Associations dataset. |
neuropathy, inflammatory demyelinating Gene SetFrom OMIM Gene-Disease Associations genes associated with the neuropathy, inflammatory demyelinating phenotype from the curated OMIM Gene-Disease Associations dataset. |
neuropathy, hereditary sensory and autonomic, type vii Gene SetFrom OMIM Gene-Disease Associations genes associated with the neuropathy, hereditary sensory and autonomic, type vii phenotype from the curated OMIM Gene-Disease Associations dataset. |
cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene SetFrom 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. |
hereditary motor and sensory neuropathy vi Gene SetFrom OMIM Gene-Disease Associations genes associated with the hereditary motor and sensory neuropathy vi phenotype from the curated OMIM Gene-Disease Associations dataset. |
neuropathy, distal hereditary motor, type viib Gene SetFrom OMIM Gene-Disease Associations genes associated with the neuropathy, distal hereditary motor, type viib phenotype from the curated OMIM Gene-Disease Associations dataset. |
?peripheral neuropathy, myopathy, hoarseness, and hearing loss Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?peripheral neuropathy, myopathy, hoarseness, and hearing loss phenotype from the curated OMIM Gene-Disease Associations dataset. |
neuropathy, hereditary sensory and autonomic, type v Gene SetFrom OMIM Gene-Disease Associations genes associated with the neuropathy, hereditary sensory and autonomic, type v phenotype from the curated OMIM Gene-Disease Associations dataset. |
leukoencephalopathy with dystonia and motor neuropathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the leukoencephalopathy with dystonia and motor neuropathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy Gene SetFrom OMIM Gene-Disease Associations genes associated with the myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy phenotype from the curated OMIM Gene-Disease Associations dataset. |
neuropathy, congenital hypomyelinating Gene SetFrom OMIM Gene-Disease Associations genes associated with the neuropathy, congenital hypomyelinating phenotype from the curated OMIM Gene-Disease Associations dataset. |
?giant axonal neuropathy 2, autosomal dominant Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?giant axonal neuropathy 2, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset. |
neuropathy, distal hereditary motor, type iib Gene SetFrom OMIM Gene-Disease Associations genes associated with the neuropathy, distal hereditary motor, type iib phenotype from the curated OMIM Gene-Disease Associations dataset. |
neuropathy, distal hereditary motor, type iia Gene SetFrom OMIM Gene-Disease Associations genes associated with the neuropathy, distal hereditary motor, type iia phenotype from the curated OMIM Gene-Disease Associations dataset. |
Axonal Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Axonal Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Sensory Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Sensory Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hereditary Motor And Sensory Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hereditary Motor And Sensory Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Peripheral Axonal Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Peripheral Axonal Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Peripheral Motor Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Peripheral Motor Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Tangier Disease Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Tangier Disease Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Small Fiber Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Small Fiber Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Peripheral Neuropathy Due To And Following Chemotherapy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Peripheral Neuropathy Due To And Following Chemotherapy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Sciatic Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Sciatic Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Peripheral Demyelinating Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Peripheral Demyelinating Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Sensorimotor Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Sensorimotor Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Trifunctional Protein Deficiency With Myopathy And Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Trifunctional Protein Deficiency With Myopathy And Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Arteritic Anterior Ischemic Optic Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Arteritic Anterior Ischemic Optic Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autonomic Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autonomic Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Nonarteritic Anterior Ischemic Optic Neuropathy (Naion) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Nonarteritic Anterior Ischemic Optic Neuropathy (Naion) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Optic Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Optic Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hereditary Sensory Autonomic Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hereditary Sensory Autonomic Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hmn (Hereditary Motor Neuropathy) Proximal Type I Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hmn (Hereditary Motor Neuropathy) Proximal Type I in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Visceral Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Visceral Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Alcoholic Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Alcoholic Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Vasculitic Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Vasculitic Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Auditory Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Auditory Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Auditory Neuropathy Spectrum Disorder Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Auditory Neuropathy Spectrum Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Axonal Sensorimotor Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Axonal Sensorimotor Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Motor And Sensory Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Motor And Sensory Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Sensory And Autonomic Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Sensory And Autonomic Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cardiac Autonomic Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cardiac Autonomic Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Amyloid Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Amyloid Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Familial Amyloid Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Familial Amyloid Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Unspecified Idiopathic Peripheral Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Unspecified Idiopathic Peripheral Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Constrictive Median Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Constrictive Median Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Sensory Neuropathy, Hereditary Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Sensory Neuropathy, Hereditary in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Periodic Paralysis With Later-Onset Distal Motor Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Periodic Paralysis With Later-Onset Distal Motor Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Chronic Axonal Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Chronic Axonal Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Anti-Mag Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Anti-Mag Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Giant Axonal Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Giant Axonal Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Optic Neuropathy, Ischemic Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Optic Neuropathy, Ischemic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Asymmetric Diabetic Proximal Motor Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Asymmetric Diabetic Proximal Motor Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Symmetric Diabetic Proximal Motor Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Symmetric Diabetic Proximal Motor Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Multifocal Motor Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Multifocal Motor Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Inflammatory Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Inflammatory Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Retinal Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Retinal Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Hypomyelinating Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Hypomyelinating Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hypertrophic Neuropathy Of Infancy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hypertrophic Neuropathy Of Infancy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acute Motor Axonal Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acute Motor Axonal Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Length-Dependent Peripheral Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Length-Dependent Peripheral Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Cataracts, Facial Dysmorphism, And Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Giant Axonal Neuropathy, Autosomal Dominant Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Giant Axonal Neuropathy, Autosomal Dominant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Distal Hereditary Motor Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Distal Hereditary Motor Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease 46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Auditory Neuropathy, Autosomal Dominant, 1 Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Auditory Neuropathy, Autosomal Dominant, 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Distal Peripheral Sensory Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Distal Peripheral Sensory Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Inherited Peripheral Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Inherited Peripheral Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hereditary Sensory And Autonomic Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hereditary Sensory And Autonomic Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hereditary Sensory Radicular Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hereditary Sensory Radicular Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Autoimmune Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Autoimmune Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Paraneoplastic Optic Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Paraneoplastic Optic Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dejerine-Sottas Neuropathy, Autosomal Dominant Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dejerine-Sottas Neuropathy, Autosomal Dominant in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Non-Arteritic Ischemic Optic Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Non-Arteritic Ischemic Optic Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Auditory Neuropathy And Optic Atrophy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Auditory Neuropathy And Optic Atrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Adult Polyglucosan Body Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Adult Polyglucosan Body Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hereditary Motor And Sensory Neuropathy, Type Iic (Disorder) Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hereditary Motor And Sensory Neuropathy, Type Iic (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hereditary Peripheral Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hereditary Peripheral Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Anterior Ischemic Optic Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Anterior Ischemic Optic Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Posterior Ischemic Optic Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Posterior Ischemic Optic Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hiv Peripheral Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hiv Peripheral Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Acute Motor Sensory Axonal Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Acute Motor Sensory Axonal Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hereditary And Idiopathic Neuropathy, Unspecified Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hereditary And Idiopathic Neuropathy, Unspecified in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Peripheral Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Peripheral Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Early-Onset Axonal Neuropathy Due To Mitofusin 2 Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Early-Onset Axonal Neuropathy Due To Mitofusin 2 Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Inherited Optic Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Inherited Optic Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Progressive Optic Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Progressive Optic Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome Gene SetFrom 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. |
Median Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Median Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Demyelinating Sensory Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Demyelinating Sensory Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Congenital Peripheral Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Congenital Peripheral Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dominantly Inherited Sensory Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dominantly Inherited Sensory Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hollow Visceral Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hollow Visceral Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Idiopathic Peripheral Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Idiopathic Peripheral Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Ischemic Peripheral Neuropathy Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ischemic Peripheral Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Motor Axonal Neuropathy Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Motor Axonal Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive Peripheral Neuropathy Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Progressive Peripheral Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Sensory Axonal Neuropathy Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Sensory Axonal Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Sensory Ataxic Neuropathy Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Sensory Ataxic Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Episodic Peripheral Neuropathy Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Episodic Peripheral Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Peripheral Neuropathy With Sensorineural Hearing Impairment Syndrome Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Peripheral Neuropathy With Sensorineural Hearing Impairment Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Demyelinating Motor Neuropathy Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Demyelinating Motor Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Neuropathy Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
optic neuropathy Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the optic neuropathy phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Intracellular trafficking proteins involved in CMT neuropathy Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Intracellular trafficking proteins involved in CMT neuropathy pathway from the WikiPathways Pathways 2024 dataset. |
Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN) Gene Setproteins participating in the Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN) pathway from the Reactome Pathways 2024 dataset. |
Neuropathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Neuropathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Leber hereditary optic neuropathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Leber hereditary optic neuropathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Spinocerebellar ataxia with axonal neuropathy 2 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Spinocerebellar ataxia with axonal neuropathy 2 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Hereditary sensory and autonomic neuropathy type 2 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Hereditary sensory and autonomic neuropathy type 2 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Hereditary sensory neuropathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Hereditary sensory neuropathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Brachial plexus neuropathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Brachial plexus neuropathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Agenesis of the corpus callosum with peripheral neuropathy Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Agenesis of the corpus callosum with peripheral neuropathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Hereditary neuropathy with liability to pressure palsies Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Hereditary neuropathy with liability to pressure palsies from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Hereditary sensory and autonomic neuropathy type 1 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Hereditary sensory and autonomic neuropathy type 1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Hereditary sensory and autonomic neuropathy type 1A Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Hereditary sensory and autonomic neuropathy type 1A from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Hereditary sensory neuropathy type 1E Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Hereditary sensory neuropathy type 1E from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Hereditary sensory and autonomic neuropathy type 5 Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Hereditary sensory and autonomic neuropathy type 5 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Neuropathy Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Neuropathy in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Leber hereditary optic neuropathy and dystonia Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Leber hereditary optic neuropathy and dystonia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Diabetic neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Diabetic neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Leber hereditary optic neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Leber hereditary optic neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Axonal neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Axonal neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Tibial neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Tibial neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Brachial plexus neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Brachial plexus neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hereditary sensory neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hereditary sensory neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autonomic neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autonomic neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hereditary neuropathy with liability to pressure palsies Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hereditary neuropathy with liability to pressure palsies in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
non-arteritic anterior ischemic optic neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease non-arteritic anterior ischemic optic neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Motor peripheral neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Motor peripheral neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Toxic optic neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Toxic optic neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Sensory peripheral neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Sensory peripheral neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinocerebellar ataxia with axonal neuropathy type 3 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinocerebellar ataxia with axonal neuropathy type 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autosomal dominant auditory neuropathy 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autosomal dominant auditory neuropathy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hereditary sensory and autonomic neuropathy type 2A Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hereditary sensory and autonomic neuropathy type 2A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hereditary sensory and autonomic neuropathy type 1A Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hereditary sensory and autonomic neuropathy type 1A in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinocerebellar ataxia with axonal neuropathy 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinocerebellar ataxia with axonal neuropathy 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Inflammatory and toxic neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Inflammatory and toxic neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autoimmune neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autoimmune neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autoimmune peripheral neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autoimmune peripheral neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Anterior ischemic optic neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Anterior ischemic optic neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Arteritic anterior ischemic optic neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Arteritic anterior ischemic optic neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spinocerebellar ataxia with axonal neuropathy 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spinocerebellar ataxia with axonal neuropathy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hereditary sensory and autonomic neuropathy type 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hereditary sensory and autonomic neuropathy type 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hereditary sensory and autonomic neuropathy type 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hereditary sensory and autonomic neuropathy type 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Sciatic neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Sciatic neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hereditary sensory neuropathy type 2C Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hereditary sensory neuropathy type 2C in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nutritional optic neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nutritional optic neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Diabetic autonomic neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Diabetic autonomic neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hereditary sensory neuropathy type 1E Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hereditary sensory neuropathy type 1E in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Uremic neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Uremic neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Autonomic peripheral neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Autonomic peripheral neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Alcoholic neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Alcoholic neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hereditary sensory and autonomic neuropathy type 6 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hereditary sensory and autonomic neuropathy type 6 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Peroneal neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Peroneal neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hereditary sensory and autonomic neuropathy type 5 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hereditary sensory and autonomic neuropathy type 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Agenesis of the corpus callosum with peripheral neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Agenesis of the corpus callosum with peripheral neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hereditary sensory and autonomic neuropathy type 1C Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hereditary sensory and autonomic neuropathy type 1C in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Ulnar neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ulnar neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hereditary sensory and autonomic neuropathy type 2B Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hereditary sensory and autonomic neuropathy type 2B in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Ischemic neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Ischemic neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Radial neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Radial neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hereditary sensory neuropathy type 1D Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hereditary sensory neuropathy type 1D in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hereditary sensory and autonomic neuropathy type 8 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hereditary sensory and autonomic neuropathy type 8 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hereditary sensory neuropathy type 1B Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hereditary sensory neuropathy type 1B in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hereditary sensory and autonomic neuropathy type 7 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hereditary sensory and autonomic neuropathy type 7 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hereditary sensory neuropathy type 1F Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hereditary sensory neuropathy type 1F in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Femoral neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Femoral neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Median neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Median neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Idiopathic peripheral autonomic neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Idiopathic peripheral autonomic neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Giant axonal neuropathy 2 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Giant axonal neuropathy 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Giant axonal neuropathy 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Giant axonal neuropathy 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Asymmetric motor neuropathy Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Asymmetric motor neuropathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Hereditary sensory neuropathy type 4 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Hereditary sensory neuropathy type 4 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hereditary sensory and autonomic neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary sensory and autonomic neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hereditary motor and sensory neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary motor and sensory neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Peripheral axonal neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Peripheral axonal neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Adult polyglucosan body neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Adult polyglucosan body neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Nonarteritic anterior ischemic optic neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Nonarteritic anterior ischemic optic neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Sensory neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Sensory neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Peripheral neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Peripheral neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Sensorimotor neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Sensorimotor neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Giant axonal neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Giant axonal neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital cataracts-facial dysmorphism-neuropathy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital cataracts-facial dysmorphism-neuropathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Auditory neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Auditory neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Sensory ataxic neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Sensory ataxic neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Distal hereditary motor neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Distal hereditary motor neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Dejerine-sottas neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Dejerine-sottas neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hereditary sensory neuropathy-deafness-dementia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary sensory neuropathy-deafness-dementia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Demyelinating peripheral neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Demyelinating peripheral neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Familial dilated cardiomyopathy and peripheral neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Familial dilated cardiomyopathy and peripheral neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Auditory neuropathy spectrum disorder Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Auditory neuropathy spectrum disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Small fiber neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Small fiber neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive demyelinating neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive demyelinating neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Visceral neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Visceral neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal dominant hereditary axonal motor and sensory neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant hereditary axonal motor and sensory neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hereditary sensorimotor neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary sensorimotor neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
GARS-Associated Axonal Neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the GARS-Associated Axonal Neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Optic neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Optic neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital sensory neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital sensory neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Ataxia Neuropathy Spectrum Disorders Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Ataxia Neuropathy Spectrum Disorders phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Auditory neuropathy-optic atrophy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Auditory neuropathy-optic atrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Autosomal dominant auditory neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Autosomal dominant auditory neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Hereditary peripheral neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Hereditary peripheral neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Progressive peripheral neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive peripheral neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Leber-like hereditary optic neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Leber-like hereditary optic neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Leber hereditary optic neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Leber hereditary optic neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Peripheral motor neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Peripheral motor neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital hypomyelination neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital hypomyelination neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Diabetic neuropathy in type 2 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Diabetic neuropathy in type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Sensory peripheral neuropathy in microtubule targeting agent-treated breast cancer Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Sensory peripheral neuropathy in microtubule targeting agent-treated breast cancer phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Neuropathy x type 2 diabetes interaction Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Neuropathy x type 2 diabetes interaction phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Bortezomib-induced peripheral neuropathy in multiple myeloma Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Bortezomib-induced peripheral neuropathy in multiple myeloma phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Diabetic peripheral neuropathy in type 2 diabetes Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Diabetic peripheral neuropathy in type 2 diabetes phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Paclitaxel-induced neuropathy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Paclitaxel-induced neuropathy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 1 peripheral neuropathy) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 1 peripheral neuropathy) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 2 peripheral neuropathy) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 2 peripheral neuropathy) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 3 peripheral neuropathy) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 3 peripheral neuropathy) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Vincristine-induced peripheral neuropathy in acute lymphoblastic leukemia Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Vincristine-induced peripheral neuropathy in acute lymphoblastic leukemia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Docetaxel-induced peripheral neuropathy in metastatic castrate-resistant prostate cancer Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Docetaxel-induced peripheral neuropathy in metastatic castrate-resistant prostate cancer phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Taxane-induced peripheral neuropathy in breast cancer Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Taxane-induced peripheral neuropathy in breast cancer phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Foot ulcer in diabetes and neuropathy Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Foot ulcer in diabetes and neuropathy phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Methionine adenosyltransferase deficiency, autosomal recessive Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Agammaglobulinemia 2, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 101 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive cutis laxa type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypercholesterolemia, autosomal recessive Gene SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Woolly hair, autosomal recessive 2, with or without hypotrichosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alport syndrome, autosomal recessive Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spastic ataxia 5, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Indifference to pain, congenital, autosomal recessive Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spastic paraplegia 55, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive congenital ichthyosis 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sick sinus syndrome 1, autosomal recessive Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cataract, congenital nuclear, autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cataract, congenital nuclear, autosomal recessive 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cataract, congenital nuclear, autosomal recessive 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Polymicrogyria, bilateral perisylvian, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Polymicrogyria, bilateral perisylvian, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive Dejerine-Sottas syndrome Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly and chorioretinopathy, autosomal recessive, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dyskeratosis congenita, autosomal recessive, 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dyskeratosis congenita, autosomal recessive, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Agammaglobulinemia 6, autosomal recessive Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive centronuclear myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive congenital ichthyosis 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive congenital ichthyosis 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive congenital ichthyosis 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive congenital ichthyosis 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive congenital ichthyosis 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deafness, autosomal recessive 18 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive congenital ichthyosis 4A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 4A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive congenital ichthyosis 4B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal recessive congenital ichthyosis 4B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal recessive cutis laxa type 3B Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive 13 from the curated CTD Gene-Disease Associations dataset. |
Ichthyosis with hypotrichosis, autosomal recessive Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ichthyosis with hypotrichosis, autosomal recessive from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 13 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Indifference to Pain, Congenital, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
Robinow syndrome, autosomal recessive Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Deafness, Autosomal Recessive, 24 from the curated CTD Gene-Disease Associations dataset. |
Polycystic Kidney, Autosomal Recessive Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cerebral Palsy, Ataxic, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
DEAFNESS, AUTOSOMAL RECESSIVE 18A Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 9 from the curated CTD Gene-Disease Associations dataset. |
Spastic paraplegia 14, autosomal recessive Gene SetFrom 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 SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset. |
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE Gene SetFrom 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 SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alport syndrome, recessive type from the curated CTD Gene-Disease Associations dataset. |
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 4 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 45 from the curated CTD Gene-Disease Associations dataset. |
Spinocerebellar ataxia, autosomal recessive 4 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cataract, Congenital Nuclear, Autosomal Recessive 1 from the curated CTD Gene-Disease Associations dataset. |
SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cataract, Congenital Nuclear, Autosomal Recessive 3 from the curated CTD Gene-Disease Associations dataset. |
Deafness, Autosomal Recessive 20 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cataract, Congenital Nuclear, Autosomal Recessive 2 from the curated CTD Gene-Disease Associations dataset. |
Cutis laxa, recessive Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Recessive 3 from the curated CTD Gene-Disease Associations dataset. |
Neutropenia, Severe Congenital, Autosomal Recessive 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Recessive 4 from the curated CTD Gene-Disease Associations dataset. |
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
recessive retinitis pigmentosa Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive, 9/26 phenotype from the curated OMIM Gene-Disease Associations dataset. |
exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like Gene SetFrom OMIM Gene-Disease Associations genes associated with the exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like phenotype from the curated OMIM Gene-Disease Associations dataset. |
scid, autosomal recessive, t-negative/b-positive type Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
weill-marchesani syndrome 3, recessive Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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. |
spastic paraplegia 53, autosomal recessive Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom OMIM Gene-Disease Associations genes associated with the retinitis pigmentosa, juvenile, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
protoporphyria, erythropoietic, autosomal recessive Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom OMIM Gene-Disease Associations genes associated with the night blindness, congenital stationary (complete), 1f, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
spinocerebellar ataxia, autosomal recessive 7 Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom OMIM Gene-Disease Associations genes associated with the night blindness, congenital stationary (complete), 1b, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
spastic paraplegia 26, autosomal recessive Gene SetFrom 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 SetFrom 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 SetFrom OMIM Gene-Disease Associations genes associated with the night blindness, congenital stationary (complete), 1c, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly 6, primary, autosomal recessive Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom OMIM Gene-Disease Associations genes associated with the ?deafness, autosomal recessive 101 phenotype from the curated OMIM Gene-Disease Associations dataset. |
spastic paraplegia 47, autosomal recessive Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom OMIM Gene-Disease Associations genes associated with the spinocerebellar ataxia, autosomal recessive 10 phenotype from the curated OMIM Gene-Disease Associations dataset. |
ichthyosis, congenital, autosomal recessive 4a Gene SetFrom OMIM Gene-Disease Associations genes associated with the ichthyosis, congenital, autosomal recessive 4a phenotype from the curated OMIM Gene-Disease Associations dataset. |
woolly hair, autosomal recessive 1, with or without hypotrichosis Gene SetFrom 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 SetFrom 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 SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital, 6, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
night blindness, congenital stationary (incomplete), 2b, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the night blindness, congenital stationary (incomplete), 2b, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
ichthyosis, autosomal recessive 4b (harlequin) Gene SetFrom OMIM Gene-Disease Associations genes associated with the ichthyosis, autosomal recessive 4b (harlequin) phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperekplexia, hereditary 1, autosomal dominant or recessive Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom 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 SetFrom OMIM Gene-Disease Associations genes associated with the neutropenia, severe congenital, 5, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
night blindness, congenital stationary (complete), 1e, autosomal recessive Gene SetFrom OMIM Gene-Disease Associations genes associated with the night blindness, congenital stationary (complete), 1e, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset. |
spastic paraplegia 56, autosomal recessive Gene SetFrom 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 SetFrom 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 SetFrom 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 SetFrom OMIM Gene-Disease Associations genes associated with the hypophosphatemic rickets, autosomal recessive, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cutis laxa, autosomal recessive, type ic Gene SetFrom OMIM Gene-Disease Associations genes associated with the cutis laxa, autosomal recessive, type ic phenotype from the curated OMIM Gene-Disease Associations dataset. |