Name

RNU7-62P Gene

RNA, U7 small nuclear 62 pseudogene

DFNB45 Gene

deafness, autosomal recessive 45

DFNB20 Gene

deafness, autosomal recessive 20

DFNB26 Gene

deafness, autosomal recessive 26

DFNB27 Gene

deafness, autosomal recessive 27

DFNB75 Gene

deafness, autosomal recessive 75

DFNB81 Gene

deafness, autosomal recessive 81

DFNB62 Gene

deafness, autosomal recessive 62

DFNB60 Gene

deafness, autosomal recessive 60

DFNB68 Gene

deafness, autosomal recessive 68

DFNB69 Gene

deafness, autosomal recessive 69

DFNB85 Gene

deafness, autosomal recessive 85

This locus was defined by homozygosity mapping in a kindred of 42 enrolled individuals, between FAM18B2 and NF1. [provided by RefSeq, Feb 2010]

DFNB83 Gene

deafness, autosomal recessive 83

This locus, identified by homozygosity mapping, overlaps that of DFNA47. It may be that mutations of the same gene are responsible for recessive and dominant hearing loss. [provided by RefSeq, Feb 2010]

DFNB59 Gene

deafness, autosomal recessive 59

The protein encoded by this gene is a member of the gasdermin family, a family which is found only in vertebrates. The encoded protein is required for the proper function of auditory pathway neurons. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal recessive type 59 (DFNB59). [provided by RefSeq, Dec 2008]

DFNB57 Gene

deafness, autosomal recessive 57

DFNB56 Gene

deafness, autosomal recessive 56

DFNB55 Gene

deafness, autosomal recessive 55

DFNB66 Gene

deafness, autosomal recessive 66

DFNB65 Gene

deafness, autosomal recessive 65

DFNB58 Gene

deafness, autosomal recessive 58

DFNB50 Gene

deafness, autosomal recessive 50

DFNB71 Gene

deafness, autosomal recessive 71

DFNB5 Gene

deafness, autosomal recessive 5

DFNB38 Gene

deafness, autosomal recessive 38

DFNB31 Gene

deafness, autosomal recessive 31

This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Mar 2010]

DFNB33 Gene

deafness, autosomal recessive 33

DFNB32 Gene

deafness, autosomal recessive 32

DFNB34 Gene

deafness, autosomal recessive 34

DFNB19 Gene

deafness, autosomal recessive 19

DFNB44 Gene

deafness, autosomal recessive 44

DFNB43 Gene

deafness, autosomal recessive 43

DFNB46 Gene

deafness, autosomal recessive 46

DFNB40 Gene

deafness, autosomal recessive 40

DFNB47 Gene

deafness, autosomal recessive 47

DFNB51 Gene

deafness, autosomal recessive 51

DFNB13 Gene

deafness, autosomal recessive 13

DFNB17 Gene

deafness, autosomal recessive 17

DFNB14 Gene

deafness, autosomal recessive 14

DFNB96 Gene

deafness, autosomal recessive 96

DFNM1 Gene

deafness (recessive, nonsyndromic) modifier 1

DFNA7 Gene

deafness, autosomal dominant 7

DFNA5 Gene

deafness, autosomal dominant 5

Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

DFNA37 Gene

deafness, autosomal dominant 37

DFNA35 Gene

deafness, autosomal dominant 35

DFNA32 Gene

deafness, autosomal dominant 32

DFNA33 Gene

deafness, autosomal dominant 33

DFNA30 Gene

deafness, autosomal dominant 30

DFNA31 Gene

deafness, autosomal dominant 31

DFNA16 Gene

deafness, autosomal dominant 16

DFNA18 Gene

deafness, autosomal dominant 18

DFNA19 Gene

deafness, autosomal dominant 19

DFNA43 Gene

deafness, autosomal dominant 43

DFNA42 Gene

deafness, autosomal dominant 42

DFNA40 Gene

deafness, autosomal dominant 40

DFNA47 Gene

deafness, autosomal dominant 47

DFNA46 Gene

deafness, autosomal dominant 46

DFNA45 Gene

deafness, autosomal dominant 45

DFNA49 Gene

deafness, autosomal dominant 49

DFNA34 Gene

deafness, autosomal dominant 34

DFNA24 Gene

deafness, autosomal dominant 24

DFNA27 Gene

deafness, autosomal dominant 27

DFNA21 Gene

deafness, autosomal dominant 21

DFNA29 Gene

deafness, autosomal dominant 29

DFNA54 Gene

deafness, autosomal dominant 54

DFNA57 Gene

deafness, autosomal dominant 57

DFNA52 Gene

deafness, autosomal dominant 52

DFNA53 Gene

deafness, autosomal dominant 53

DFNA58 Gene

deafness, autosomal dominant 58

This locus was identified to map between markers D2S2259 and D2S2114 in a Brazilian family with 12 individuals affected by bilateral post-lingual and progressive hearing loss. [provided by RefSeq, Feb 2010]

DFNA59 Gene

deafness, autosomal dominant 59

OPA6 Gene

optic atrophy 6 (autosomal recessive)

OPA3 Gene

optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)

The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

SPG27 Gene

spastic paraplegia 27 (autosomal recessive)

SPG25 Gene

spastic paraplegia 25 (autosomal recessive, with disc herniation)

SPG24 Gene

spastic paraplegia 24 (autosomal recessive)

SPG21 Gene

spastic paraplegia 21 (autosomal recessive, Mast syndrome)

The protein encoded by this gene binds to the hydrophobic C-terminal amino acids of CD4 which are involved in repression of T cell activation. The interaction with CD4 is mediated by the noncatalytic alpha/beta hydrolase fold domain of this protein. It is thus proposed that this gene product modulates the stimulatory activity of CD4. Mutations in this gene are associated with autosomal recessive spastic paraplegia 21 (SPG21), also known as mast syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]

SPG23 Gene

spastic paraplegia 23 (autosomal recessive)

MRT28 Gene

mental retardation, non-syndromic, autosomal recessive, 28

MRT29 Gene

Mental retardation, autosomal recessive 29

MRT24 Gene

mental retardation, non-syndromic, autosomal recessive, 24

MRT23 Gene

mental retardation, non-syndromic, autosomal recessive, 23

MRT10 Gene

mental retardation, non-syndromic, autosomal recessive, 10

MYP18 Gene

myopia 18 (high grade, autosomal recessive)

This locus was identified by linkage in one consanguineous Chinese family to lie between D14S984 and D14S999. [provided by RefSeq, Feb 2010]

CMR2A Gene

cardiomyopathy, restrictive 2A (autosomal recessive)

HOAC Gene

hypoacusis 2 (autosomal recessive)

MRT17 Gene

mental retardation, non-syndromic, autosomal recessive, 17

MRT16 Gene

Mental retardation, autosomal recessive 16

MRT11 Gene

mental retardation, non-syndromic, autosomal recessive, 11

MRT19 Gene

mental retardation, non-syndromic, autosomal recessive, 19

SCAR2 Gene

spinocerebellar ataxia, autosomal recessive 2

SCAR3 Gene

spinocerebellar ataxia, autosomal recessive 3

CTRCT34 Gene

Cataract, autosomal recessive congenital 3

CTRCT35 Gene

cataract, congenital nuclear, autosomal recessive

MRT8 Gene

mental retardation, non-syndromic, autosomal recessive, 8

MRT9 Gene

mental retardation, non-syndromic, autosomal recessive, 9

PKHD1L1 Gene

polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1

SPG45 Gene

spastic paraplegia 45 (autosomal recessive)

SPG7 Gene

spastic paraplegia 7 (pure and complicated autosomal recessive)

This gene encodes a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Mutations in this gene cause autosomal recessive spastic paraplegia 7. Two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2014]

SPG11 Gene

spastic paraplegia 11 (autosomal recessive)

The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

DYT2 Gene

dystonia 2, torsion (autosomal recessive)

MRT25 Gene

mental retardation, non-syndromic, autosomal recessive, 25

MRT4 Gene

mental retardation, non-syndromic, autosomal recessive, 4

SPG14 Gene

spastic paraplegia 14 (autosomal recessive)

USH2A Gene

Usher syndrome 2A (autosomal recessive, mild)

This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

MRT33 Gene

Mental retardation, autosomal recessive 33

MRT32 Gene

Mental retardation, autosomal recessive 32

MRT31 Gene

Mental retardation, autosomal recessive 31

MRT30 Gene

Mental retardation, autosomal recessive 30

MRT35 Gene

Mental retardation, autosomal recessive 35

MRT27 Gene

mental retardation, non-syndromic, autosomal recessive, 27

ECB2 Gene

erythrocytosis, autosomal recessive benign 2

RP22 Gene

retinitis pigmentosa 22 (autosomal recessive)

RP29 Gene

retinitis pigmentosa 29 (autosomal recessive)

MHB Gene

myopathy, hyaline body, autosomal recessive

CIRH1A Gene

cirrhosis, autosomal recessive 1A (cirhin)

This gene encodes a WD40-repeat-containing protein that is localized to the nucleolus. Mutation of this gene causes North American Indian childhood cirrhosis, a severe intrahepatic cholestasis that results in transient neonatal jaundice, and progresses to periportal fibrosis and cirrhosis in childhood and adolescence. [provided by RefSeq, Jul 2008]

RP32 Gene

retinitis pigmentosa 32 (autosomal recessive)

USH1K Gene

Usher syndrome 1K (autosomal recessive)

SMAR Gene

Spinal muscular atrophy, chronic distal, autosomal recessive

SPAX3 Gene

Ataxia, spastic, 3, autosomal recessive

USH1H Gene

Usher syndrome 1H (autosomal recessive)

USH1C Gene

Usher syndrome 1C (autosomal recessive, severe)

This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

USH1G Gene

Usher syndrome 1G (autosomal recessive)

This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Mutations in this gene are associated with Usher syndrome type 1G (USH1G). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

USH1E Gene

Usher syndrome 1E (autosomal recessive, severe)

CTPL1 Gene

cataract, pulverulent (autosomal recessive, early-onset)

SPG32 Gene

spastic paraplegia 32 (autosomal recessive)

OA3 Gene

ocular albinism 3 (autosomal recessive)

MCOP1 Gene

microphthalmia, autosomal recessive

SPG5B Gene

spastic paraplegia 5B (autosomal recessive)

ARCI9 Gene

Ichthyosis, congenital, autosomal recessive 9

ARCI7 Gene

Ichthyosis, congenital, autosomal recessive 7

PKHD1 Gene

polycystic kidney and hepatic disease 1 (autosomal recessive)

The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008]

HYD2 Gene

hypodontia 2 (autosomal recessive)

OCA5 Gene

oculocutaneous albinism 5 (autosomal recessive)

HPPD Gene

Hypertelorism, preauricular sinus, punctal pits, and deafness

NEDE Gene

nephropathy, progressive, with deafness

ADFN Gene

albinism-deafness syndrome

DFN5 Gene

deafness, X-linked 5

DFN8 Gene

deafness, X-linked 8

DFNX3 Gene

deafness, X-linked 3

DELXQ21 Gene

Choroideremia, deafness, and mental retardation

DEL15Q15.3 Gene

Deafness and male infertility

DFNM2 Gene

deafness (mitochondrial) modifier 2

MRXSMP Gene

Martin-Probst deafness-mental retardation syndrome

OASD Gene

ocular albinism and sensorineural deafness

DFCTRPS Gene

Deafness, cataract, retinitis pigmentosa, and sperm abnormalities

DFNY1 Gene

deafness, Y-linked 1

RP34 Gene

retinitis pigmentosa 34 (X-linked recessive)

CMTX2 Gene

Charcot-Marie-Tooth neuropathy, X-linked 2 (recessive)

SPG16 Gene

spastic paraplegia 16 (complicated, X-linked recessive)

RP2 Gene

retinitis pigmentosa 2 (X-linked recessive)

The RP2 locus has been implicated as one cause of X-linked retinitis pigmentosa. The predicted gene product shows homology with human cofactor C, a protein involved in the ultimate step of beta-tubulin folding. Progressive retinal degeneration may therefore be due to the accumulation of incorrectly-folded photoreceptor or neuron-specific tubulin isoforms followed by progressive cell death [provided by RefSeq, Jul 2008]

RP6 Gene

retinitis pigmentosa 6 (X-linked recessive)

AUNX1 Gene

auditory neuropathy, X-linked recessive 1

RP24 Gene

retinitis pigmentosa 24 (X-linked recessive)

ICR3 Gene

ichthyosis congenita III, vulgaris-like recessive ichthyosis

OPA4 Gene

optic atrophy 4 (autosomal dominant)

OPA5 Gene

optic atrophy 5 (autosomal dominant)

OPA1 Gene

optic atrophy 1 (autosomal dominant)

This gene product is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. It is a component of the mitochondrial network. Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

CMR1A Gene

cardiomyopathy, restrictive 1A (autosomal dominant)

FXR1 Gene

fragile X mental retardation, autosomal homolog 1

The protein encoded by this gene is an RNA binding protein that interacts with the functionally-similar proteins FMR1 and FXR2. These proteins shuttle between the nucleus and cytoplasm and associate with polyribosomes, predominantly with the 60S ribosomal subunit. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

FXR2 Gene

fragile X mental retardation, autosomal homolog 2

The protein encoded by this gene is a RNA binding protein containing two KH domains and one RCG box, which is similar to FMRP and FXR1. It associates with polyribosomes, predominantly with 60S large ribosomal subunits. This encoded protein may self-associate or interact with FMRP and FXR1. It may have a role in the development of fragile X mental retardation syndrome. [provided by RefSeq, Jul 2008]

MYP19 Gene

Myopia 19, autosomal dominant

MYP11 Gene

myopia 11 (high grade, autosomal dominant)

SPG36 Gene

spastic paraplegia 36 (autosomal dominant)

CNA1 Gene

cornea plana 1 (autosomal dominant)

SPG41 Gene

spastic paraplegia 41 (autosomal dominant)

This locus was defined in a Chinese family. Nineteen individuals were genotyped and the interval was defined between D11S1324 and D11S1933. [provided by RefSeq, Feb 2010]

LOC100132797 Gene

fragile X mental retardation, autosomal homolog 1 pseudogene

CMD1K Gene

cardiomyopathy, dilated 1K (autosomal dominant)

CMD1H Gene

cardiomyopathy, dilated 1H (autosomal dominant)

CMD1F Gene

cardiomyopathy, dilated 1F (autosomal dominant)

CMD1B Gene

cardiomyopathy, dilated 1B (autosomal dominant)

PKD1P1 Gene

polycystic kidney disease 1 (autosomal dominant) pseudogene 1

PKD1P2 Gene

polycystic kidney disease 1 (autosomal dominant) pseudogene 2

PKD1P3 Gene

polycystic kidney disease 1 (autosomal dominant) pseudogene 3

PKD1P4 Gene

polycystic kidney disease 1 (autosomal dominant) pseudogene 4

PKD1P5 Gene

polycystic kidney disease 1 (autosomal dominant) pseudogene 5

PKD1P6 Gene

polycystic kidney disease 1 (autosomal dominant) pseudogene 6

PKD3 Gene

polycystic kidney disease 3 (autosomal dominant)

PKD2 Gene

polycystic kidney disease 2 (autosomal dominant)

This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011]

PKD1 Gene

polycystic kidney disease 1 (autosomal dominant)

This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008]

SPG9 Gene

spastic paraplegia 9 (autosomal dominant)

LGMD1H Gene

limb girdle muscular dystrophy 1H (autosomal dominant)

LGMD1G Gene

limb girdle muscular dystrophy 1G (autosomal dominant)

DYT7 Gene

dystonia 7, torsion (autosomal dominant)

SPDT Gene

Spondyloepiphyseal dysplasia tarda, autosomal dominant

LATD Gene

Laterality defects, autosomal dominant

SPG18 Gene

spastic paraplegia 18 (autosomal dominant)

SPG19 Gene

spastic paraplegia 19 (autosomal dominant)

HYSP3 Gene

Hypospadias 3, autosomal

RP1 Gene

retinitis pigmentosa 1 (autosomal dominant)

This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains, which bind microtubules and regulate microtubule polymerization. The encoded protein is a photoreceptor microtubule-associated protein and is required for correct stacking of outer segment disc. This protein and the RP1L1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Because of its response to in vivo retinal oxygen levels, this protein was initially named ORP1 (oxygen-regulated protein-1). This protein was subsequently designated RP1 (retinitis pigmentosa 1) when it was found that mutations in this gene cause autosomal dominant retinitis pigmentosa. Mutations in this gene also cause autosomal recessive retinitis pigmentosa. Transcript variants resulted from an alternative promoter and alternative splicings have been found, which overlap the current reference sequence and has several exons upstream and downstream of the current reference sequence. However, the biological validity and full-length nature of some variants cannot be determined at this time.[provided by RefSeq, Sep 2010]

RP9 Gene

retinitis pigmentosa 9 (autosomal dominant)

The protein encoded by this gene can be bound and phosphorylated by the protooncogene PIM1 product, a serine/threonine protein kinase . This protein localizes in nuclear speckles containing the splicing factors, and has a role in pre-mRNA splicing. CBF1-interacting protein (CIR), a corepressor of CBF1, can also bind to this protein and effects alternative splicing. Mutations in this gene result in autosomal dominant retinitis pigmentosa-9. This gene has a pseudogene (GeneID: 441212), which is located in tandem array approximately 166 kb distal to this gene. [provided by RefSeq, Sep 2009]

DYT21 Gene

dystonia 21, torsion (autosomal dominant)

MYP20 Gene

Myopia 20, autosomal dominant

NYS2 Gene

nystagmus 2, congenital autosomal dominant

NYS3 Gene

nystagmus 3, congenital autosomal dominant

NYS4 Gene

nystagmus 4, congenital autosomal dominant

CMD1Q Gene

cardiomyopathy, dilated 1Q (autosomal dominant)

PAURT1 Gene

Preauricular tag, isolated, autosomal dominant, 1

CORD1 Gene

cone rod dystrophy 1 (autosomal dominant)

MYP12 Gene

myopia 12 (high grade, autosomal dominant)

PTOS1 Gene

ptosis, congenital 1 (autosomal dominant)

SPG34 Gene

spastic paraplegia 34 (autosomal dominant)

SPG37 Gene

spastic paraplegia 37 (autosomal dominant)

SPG38 Gene

spastic paraplegia 38 (autosomal dominant, Silver syndrome)

ALS3 Gene

amyotrophic lateral sclerosis 3 (autosomal dominant)

SAX1 Gene

spastic ataxia 1 (autosomal dominant)

LOC100421404 Gene

retinitis pigmentosa 9 (autosomal dominant) pseudogene

CORD17 Gene

cone rod dystrophy 17 (autosomal dominant)

HCHOLA4 Gene

hypercholesterolemia, autosomal dominant 4

RSCIS Gene

Radiation sensitivity/chromosome instability syndrome, autosomal dominant

PARK3 Gene

Parkinson disease 3 (autosomal dominant, Lewy body)

SPG29 Gene

spastic paraplegia 29 (autosomal dominant)

LVNC2 Gene

noncompaction of left ventricular myocardium, familial isolated, autosomal dominant 2

MYP2 Gene

myopia 2 (high grade, autosomal dominant)

MYP3 Gene

myopia 3 (high grade, autosomal dominant)

MYP4 Gene

myopia 4 (high grade, autosomal dominant)

MYP5 Gene

myopia 5 (high grade, autosomal dominant)

RP63 Gene

retinitis pigmentosa 63 (autosomal dominant)

CHED1 Gene

corneal endothelial dystrophy 1 (autosomal dominant)

Deafness, Autosomal Recessive 62 Gene Set

From CTD Gene-Disease Associations

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

deafness, autosomal recessive 62 Gene Set

From OMIM Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

Deafness, autosomal recessive 101 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 103 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 30 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 37 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 35 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 39 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 25 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 24 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 23 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 22 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 29 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 28 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 59 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 102 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 8 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 9 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 7 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 18b Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 91 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 84b Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 86 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 81 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 89 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 88 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 48 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 53 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 42 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 44 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 31 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 76 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 77 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 74 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 70 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 79 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 18 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 61 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 63 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 67 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 15 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 16 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 12 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 1A Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, Autosomal Recessive 1b Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 32 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 1A Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 14 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 16 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 17 Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 67 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 13 Gene Set

From CTD Gene-Disease Associations

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

DEAFNESS, AUTOSOMAL RECESSIVE 91 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 77 Gene Set

From CTD Gene-Disease Associations

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

DEAFNESS, AUTOSOMAL RECESSIVE 85 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 79 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 33 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 31 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 37 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 35 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 38 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 39 Gene Set

From CTD Gene-Disease Associations

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

DEAFNESS, AUTOSOMAL RECESSIVE 83 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 40 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 46 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 44 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 26 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 27 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 22 Gene Set

From CTD Gene-Disease Associations

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

DEAFNESS, AUTOSOMAL RECESSIVE 8 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive, 24 Gene Set

From CTD Gene-Disease Associations

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

DEAFNESS, AUTOSOMAL RECESSIVE 18A Gene Set

From CTD Gene-Disease Associations

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

DEAFNESS, AUTOSOMAL RECESSIVE 74 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 30 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 28 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 59 Gene Set

From CTD Gene-Disease Associations

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

DEAFNESS, AUTOSOMAL RECESSIVE 84A Gene Set

From CTD Gene-Disease Associations

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

DEAFNESS, AUTOSOMAL RECESSIVE 25 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 2 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 5 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 21 Gene Set

From CTD Gene-Disease Associations

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

DEAFNESS, AUTOSOMAL RECESSIVE 45 Gene Set

From CTD Gene-Disease Associations

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

Deafness, autosomal recessive 51 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 12 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 68 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 65 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 9 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 3 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 53 Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 47 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 49 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 42 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 71 Gene Set

From CTD Gene-Disease Associations

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

Deafness, autosomal recessive 55 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 20 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 23 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 6 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 63 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 66 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 7 Gene Set

From CTD Gene-Disease Associations

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

autosomal recessive nonsyndromic deafness Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

deafness, autosomal recessive 74 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 18a Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 18b Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 51 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 53 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 55 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 59 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 5 Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 76 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 77 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 70 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 71 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 79 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 1a Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 1b Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 14 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 15 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 16 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 17 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 12 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 13 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 85 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 33 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 30 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 31 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 36 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 37 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 35 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 38 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 39 Gene Set

From OMIM Gene-Disease Associations

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

?deafness, autosomal recessive 91 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 84a Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 84b Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 96 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 93 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 98 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 8/10 Gene Set

From OMIM Gene-Disease Associations

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

?deafness, autosomal recessive 103 Gene Set

From OMIM Gene-Disease Associations

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

?deafness, autosomal recessive 102 Gene Set

From OMIM Gene-Disease Associations

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

?deafness, autosomal recessive 101 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 32 Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

deafness, neurosensory, autosomal recessive 47 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 42 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 40 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 46 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 45 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 44 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 48 Gene Set

From OMIM Gene-Disease Associations

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

?deafness, autosomal recessive 44 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 68 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 61 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 63 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 65 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 67 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 66 Gene Set

From OMIM Gene-Disease Associations

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

?deafness, autosomal recessive 88 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 9 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 2 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 3 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 6 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 7 Gene Set

From OMIM Gene-Disease Associations

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

deafness , autosomal recessive 86 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 25 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 24 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 27 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 26 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 21 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 20 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 23 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 22 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 29 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 28 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 83 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 89 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal recessive 49 Gene Set

From OMIM Gene-Disease Associations

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

Deafness, autosomal dominant 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal dominant 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, without vestibular involvement, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal dominant 11 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal dominant 15 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal dominant 12 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal dominant 13 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal dominant nonsyndromic sensorineural 17 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal dominant 2b Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal dominant 20 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal dominant 22 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal dominant 25 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal dominant 28 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal dominant 3b Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal dominant 3a Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal dominant 4b Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal dominant 48 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal dominant 41 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal dominant 56 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal dominant 64 Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 44 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 47 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 25 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 15 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 10 Gene Set

From CTD Gene-Disease Associations

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

DEAFNESS, AUTOSOMAL DOMINANT 27 Gene Set

From CTD Gene-Disease Associations

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

DEAFNESS, AUTOSOMAL DOMINANT 4A Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 53 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 49 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 48 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 23 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 28 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 43 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 6 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 5 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 1 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 9 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 2B Gene Set

From CTD Gene-Disease Associations

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

Deafness, autosomal dominant nonsyndromic sensorineural 17 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 21 Gene Set

From CTD Gene-Disease Associations

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

DEAFNESS, AUTOSOMAL DOMINANT 50 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 7 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 59 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 52 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 16 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 11 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 12 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 13 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 18 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 20 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 24 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 2A Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 36 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 3B Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 3A Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 30 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 31 Gene Set

From CTD Gene-Disease Associations

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

autosomal dominant nonsyndromic deafness Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

deafness, autosomal dominant 22, with hypertrophic cardiomyopathy Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 47 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 15 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 16 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 10 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 11 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 13 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 18 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 8/12 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 36 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 33 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 30 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 31 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 3b Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 3a Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 64 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 58 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 59 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 50 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 52 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 53 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 54 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 56 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 6/14/38 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant, with peripheral neuropathy Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

?deafness, autosomal dominant 4b Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 36, with dentinogenesis Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 2a Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 2b Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 21 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 23 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 22 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 25 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 24 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 27 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 28 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 17 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 4a Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 49 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 48 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 43 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 41 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 40 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 44 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 7 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 5 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 1 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 9 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 20/26 Gene Set

From OMIM Gene-Disease Associations

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

deafness, autosomal dominant 65 Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

Methionine adenosyltransferase deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Ocular coloboma, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Primary autosomal recessive microcephaly 8 Gene Set

From ClinVar Gene-Phenotype Associations

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

Primary autosomal recessive microcephaly 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Primary autosomal recessive microcephaly 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Primary autosomal recessive microcephaly 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Primary autosomal recessive microcephaly 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

Microcephaly 12, primary, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Agammaglobulinemia 2, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive hypophosphatemic vitamin D refractory rickets Gene Set

From ClinVar Gene-Phenotype Associations

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

Thrombophilia due to protein S deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive cutis laxa type 1B Gene Set

From ClinVar Gene-Phenotype Associations

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

Auditory neuropathy, autosomal recessive, 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Hypercholesterolemia, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Alport syndrome, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Mental retardation, autosomal recessive 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Mental retardation, autosomal recessive 7 Gene Set

From ClinVar Gene-Phenotype Associations

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

Mental retardation, autosomal recessive 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Nemaline myopathy 3, autosomal dominant or recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Ectopia lentis, isolated autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Primary hypertrophic osteoarthropathy, autosomal recessive 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive hypophosphatemic bone disease Gene Set

From ClinVar Gene-Phenotype Associations

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

Inflammatory bowel disease 25, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Osteopetrosis, autosomal recessive 8 Gene Set

From ClinVar Gene-Phenotype Associations

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

Spastic paraplegia 46, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Spastic paraplegia 48, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Tetraamelia, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Thyroid hormone resistance, generalized, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Primary autosomal recessive microcephaly 7 Gene Set

From ClinVar Gene-Phenotype Associations

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

Primary autosomal recessive microcephaly 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Myoglobinuria, acute recurrent, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Gene Set

From ClinVar Gene-Phenotype Associations

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

Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Spinocerebellar ataxia autosomal recessive 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Parkinson disease 6, autosomal recessive early-onset Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Cataract, autosomal recessive congenital 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Amyotrophic lateral sclerosis 1, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Severe congenital neutropenia 3, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Hydrocephalus, nonsyndromic, autosomal recessive 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Renal tubular acidosis, distal, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Spastic paraplegia 54, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Ataxia, spastic, 4, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Microcephaly 10, primary, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Heterotopia, periventricular, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Persistent hyperplastic primary vitreous, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant Gene Set

From ClinVar Gene-Phenotype Associations

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

Spastic paraplegia 11, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Spastic paraplegia 57, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Spinocerebellar ataxia, autosomal recessive 7 Gene Set

From ClinVar Gene-Phenotype Associations

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

Spastic paraplegia 72, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Segawa syndrome, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Myopia 23, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Klippel-Feil syndrome 2, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Spinocerebellar ataxia, autosomal recessive 15 Gene Set

From ClinVar Gene-Phenotype Associations

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

Spinocerebellar ataxia, autosomal recessive 12 Gene Set

From ClinVar Gene-Phenotype Associations

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

Spinocerebellar ataxia, autosomal recessive 11 Gene Set

From ClinVar Gene-Phenotype Associations

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

Spinocerebellar ataxia, autosomal recessive 10 Gene Set

From ClinVar Gene-Phenotype Associations

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

Spastic paraplegia 44, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Spastic ataxia 5, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Indifference to pain, congenital, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Retinal degeneration, autosomal recessive, clumped pigment type Gene Set

From ClinVar Gene-Phenotype Associations

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

Amyotrophic lateral sclerosis 6, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Epidermolysis bullosa simplex, autosomal recessive 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Spastic paraplegia 55, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive congenital ichthyosis 9 Gene Set

From ClinVar Gene-Phenotype Associations

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

Sick sinus syndrome 1, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Mental retardation, autosomal recessive 18 Gene Set

From ClinVar Gene-Phenotype Associations

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

Spastic paraplegia 63, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Mental retardation, autosomal recessive 27 Gene Set

From ClinVar Gene-Phenotype Associations

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

Nemaline myopathy 2, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Congenital myotonia, autosomal recessive form Gene Set

From ClinVar Gene-Phenotype Associations

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

Severe congenital neutropenia 6, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Cataract, congenital nuclear, autosomal recessive 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Cataract, congenital nuclear, autosomal recessive 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Polymicrogyria, bilateral perisylvian, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Spinocerebellar ataxia autosomal recessive with axonal neuropathy Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive Dejerine-Sottas syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Mental retardation, autosomal recessive 39 Gene Set

From ClinVar Gene-Phenotype Associations

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

Glut1 deficiency syndrome 1, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Oculodentodigital dysplasia, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Monocyte and dendritic cell deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Spinocerebellar ataxia, autosomal recessive 14 Gene Set

From ClinVar Gene-Phenotype Associations

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

Spinocerebellar ataxia, autosomal recessive 9 Gene Set

From ClinVar Gene-Phenotype Associations

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

Spinocerebellar ataxia, autosomal recessive 8 Gene Set

From ClinVar Gene-Phenotype Associations

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

Pseudohypoaldosteronism type 1 autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Mental retardation, autosomal recessive 38 Gene Set

From ClinVar Gene-Phenotype Associations

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

Sclerocornea, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Spastic paraplegia 56, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Mental retardation, autosomal recessive 34 Gene Set

From ClinVar Gene-Phenotype Associations

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

Spastic paraplegia 30, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Epidermolysis bullosa dystrophica inversa, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Microcephaly and chorioretinopathy, autosomal recessive, 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Dyskeratosis congenita, autosomal recessive, 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Agammaglobulinemia 6, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Agammaglobulinemia 7, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Mental retardation, autosomal recessive 13 Gene Set

From ClinVar Gene-Phenotype Associations

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

Mental retardation, autosomal recessive 12 Gene Set

From ClinVar Gene-Phenotype Associations

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

Mental retardation, autosomal recessive 14 Gene Set

From ClinVar Gene-Phenotype Associations

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

Ataxia, spastic, 2, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Spinocerebellar ataxia autosomal recessive 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Severe congenital neutropenia 4, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Spastic paraplegia 45, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Mental retardation, autosomal recessive 47 Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Osteopetrosis autosomal recessive 7 Gene Set

From ClinVar Gene-Phenotype Associations

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

Osteopetrosis autosomal recessive 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

Osteopetrosis autosomal recessive 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Osteopetrosis autosomal recessive 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Osteopetrosis autosomal recessive 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive cutis laxa type 2B Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive cutis laxa type IA Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive centronuclear myopathy Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive congenital ichthyosis 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive congenital ichthyosis 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive congenital ichthyosis 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive congenital ichthyosis 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive congenital ichthyosis 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive congenital ichthyosis 4A Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive congenital ichthyosis 4B Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive cutis laxa type 3B Gene Set

From ClinVar Gene-Phenotype Associations

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

Microcephaly 11, primary, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Microcephaly with chorioretinopathy, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Robinow syndrome, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance Gene Set

From ClinVar Gene-Phenotype Associations

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

Mental retardation, autosomal recessive 40 Gene Set

From ClinVar Gene-Phenotype Associations

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

Mental retardation, autosomal recessive 41 Gene Set

From ClinVar Gene-Phenotype Associations

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

Mental retardation, autosomal recessive 42 Gene Set

From ClinVar Gene-Phenotype Associations

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

Mental retardation, autosomal recessive 43 Gene Set

From ClinVar Gene-Phenotype Associations

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

Mental retardation, autosomal recessive 44 Gene Set

From ClinVar Gene-Phenotype Associations

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

Mental retardation, autosomal recessive 45 Gene Set

From ClinVar Gene-Phenotype Associations

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

Mental retardation, autosomal recessive 46 Gene Set

From ClinVar Gene-Phenotype Associations

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

Bestrophinopathy, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Microcephaly 9, primary, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Distal spinal muscular atrophy, autosomal recessive 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

Hypophosphatemic rickets, autosomal recessive, 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Microcephaly 13, primary, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Spastic paraplegia 20, autosomal recessive Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

Spastic Paraplegia 32, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

Osteopetrosis, Autosomal Recessive 1 Gene Set

From CTD Gene-Disease Associations

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

Osteopetrosis, Autosomal Recessive 7 Gene Set

From CTD Gene-Disease Associations

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

Osteopetrosis, Autosomal Recessive 5 Gene Set

From CTD Gene-Disease Associations

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

Osteopetrosis, Autosomal Recessive 4 Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 Gene Set

From CTD Gene-Disease Associations

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

Heterotopia, Periventricular, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 Gene Set

From CTD Gene-Disease Associations

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

Amyotrophic Lateral Sclerosis 6, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

Ichthyosis with hypotrichosis, autosomal recessive Gene Set

From CTD Gene-Disease Associations

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

Mental Retardation, Autosomal Recessive 13 Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

Osteopetrosis, Autosomal Recessive 6 Gene Set

From CTD Gene-Disease Associations

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

Sick Sinus Syndrome 1, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive Gene Set

From CTD Gene-Disease Associations

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

Ataxia, Spastic, 3, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

Candidiasis familial chronic mucocutaneous, autosomal recessive Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

Spastic Paraplegia 7, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

Hypercholesterolemia, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

Indifference to Pain, Congenital, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

Robinow syndrome, autosomal recessive Gene Set

From CTD Gene-Disease Associations

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

Inflammatory Bowel Disease 25, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

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

Dystonia 17, Torsion, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

Spastic paraplegia 11, autosomal recessive Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

Polycystic Kidney, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

Spinocerebellar Ataxia, Autosomal Recessive 9 Gene Set

From CTD Gene-Disease Associations

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

Spinocerebellar Ataxia, Autosomal Recessive 8 Gene Set

From CTD Gene-Disease Associations

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

SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

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

Renal tubular acidosis, distal, autosomal recessive Gene Set

From CTD Gene-Disease Associations

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

Spastic Paraplegia 44, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

Spastic paraplegia 25, autosomal recessive Gene Set

From CTD Gene-Disease Associations

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

Myopathy, Hyaline Body, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

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

Thyroid Hormone Resistance, Generalized, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

Cutis Laxa, Autosomal Recessive, Type IIA Gene Set

From CTD Gene-Disease Associations

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

Cutis Laxa, Autosomal Recessive, Type IIB Gene Set

From CTD Gene-Disease Associations

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

Spastic paraplegia 15, autosomal recessive Gene Set

From CTD Gene-Disease Associations

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

Cerebral Palsy, Ataxic, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

Spastic Paraplegia 39, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

Spastic Paraplegia-50, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

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

Mental Retardation, Autosomal Recessive 9 Gene Set

From CTD Gene-Disease Associations

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

Spastic paraplegia 14, autosomal recessive Gene Set

From CTD Gene-Disease Associations

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

Mental Retardation, Autosomal Recessive 3 Gene Set

From CTD Gene-Disease Associations

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

Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 Gene Set

From CTD Gene-Disease Associations

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

Mental Retardation, Autosomal Recessive 4 Gene Set

From CTD Gene-Disease Associations

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

Mental Retardation, Autosomal Recessive 11 Gene Set

From CTD Gene-Disease Associations

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

Mental Retardation, Autosomal Recessive 10 Gene Set

From CTD Gene-Disease Associations

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

Mental Retardation, Autosomal Recessive 8 Gene Set

From CTD Gene-Disease Associations

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

Parkinson Disease 6, Autosomal Recessive Early-Onset Gene Set

From CTD Gene-Disease Associations

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

Cataract, Autosomal Recessive Congenital 3 Gene Set

From CTD Gene-Disease Associations

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

Microcephaly, Primary Autosomal Recessive, 5 Gene Set

From CTD Gene-Disease Associations

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

Spinocerebellar ataxia, autosomal recessive 3 Gene Set

From CTD Gene-Disease Associations

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

Hypophosphatemic Rickets, Autosomal Recessive, 2 Gene Set

From CTD Gene-Disease Associations

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

Hypophosphatemic Rickets, Autosomal Recessive, 1 Gene Set

From CTD Gene-Disease Associations

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

Microcephaly, Primary Autosomal Recessive, 4 Gene Set

From CTD Gene-Disease Associations

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

Microcephaly, Primary Autosomal Recessive, 6 Gene Set

From CTD Gene-Disease Associations

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

Mental Retardation, Autosomal Recessive 2 Gene Set

From CTD Gene-Disease Associations

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

Mental Retardation, Autosomal Recessive 7 Gene Set

From CTD Gene-Disease Associations

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

Mental Retardation, Autosomal Recessive 6 Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

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

Microcephaly, Primary Autosomal Recessive, 7 Gene Set

From CTD Gene-Disease Associations

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

Colorectal Adenomatous Polyposis, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

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

Inflammatory Bowel Disease 28, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

Spinocerebellar ataxia, autosomal recessive 4 Gene Set

From CTD Gene-Disease Associations

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

Spinocerebellar ataxia, autosomal recessive 1 Gene Set

From CTD Gene-Disease Associations

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

Myosclerosis, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

Microcephaly, Primary Autosomal Recessive, 3 Gene Set

From CTD Gene-Disease Associations

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

Microcephaly, Primary Autosomal Recessive, 1 Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

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

Spinocerebellar ataxia, autosomal recessive 6 Gene Set

From CTD Gene-Disease Associations

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

Spinocerebellar ataxia, autosomal recessive 5 Gene Set

From CTD Gene-Disease Associations

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

THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

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

Dyskeratosis Congenita, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

Tetra-amelia autosomal recessive Gene Set

From CTD Gene-Disease Associations

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

Mental Retardation, Autosomal Recessive 1 Gene Set

From CTD Gene-Disease Associations

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

Spinocerebellar Ataxia, Autosomal Recessive 2 Gene Set

From CTD Gene-Disease Associations

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

Epidermolysis Bullosa Simplex, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

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

AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

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

Myoglobinuria, Acute Recurrent, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

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

Spastic Paraplegia 27, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

Cataract, Congenital Nuclear, Autosomal Recessive 1 Gene Set

From CTD Gene-Disease Associations

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

SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

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

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA Gene Set

From CTD Gene-Disease Associations

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

Oculodentodigital Dysplasia, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

Cataract, Congenital Nuclear, Autosomal Recessive 3 Gene Set

From CTD Gene-Disease Associations

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

Inclusion body myopathy autosomal recessive Gene Set

From CTD Gene-Disease Associations

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

Cataract, Congenital Nuclear, Autosomal Recessive 2 Gene Set

From CTD Gene-Disease Associations

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

Segawa syndrome, autosomal recessive Gene Set

From CTD Gene-Disease Associations

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

Spastic Paraplegia 18, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

Parkinson Disease 7, Autosomal Recessive Early-Onset Gene Set

From CTD Gene-Disease Associations

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

Neutropenia, Severe Congenital, Autosomal Recessive 3 Gene Set

From CTD Gene-Disease Associations

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

Neutropenia, Severe Congenital, Autosomal Recessive 4 Gene Set

From CTD Gene-Disease Associations

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

SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

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

autosomal recessive disease Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

autosomal recessive disease Gene Set

From DISEASES Experimental Gene-Disease Assocation Evidence Scores

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

autosomal recessive disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

autosomal recessive charcot-marie-tooth disease Gene Set

From GAD Gene-Disease Associations

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

autosomal recessive disease Gene Set

From GWASdb SNP-Disease Associations

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

autosomal recessive inheritance Gene Set

From HPO Gene-Disease Associations

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

Polycystic Kidney, Autosomal Recessive Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

mental retardation, autosomal recessive, 9/26 Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 28 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 29 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 23 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 27 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 24 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 25 Gene Set

From OMIM Gene-Disease Associations

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

spondylocostal dysostosis 1, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

spastic paraplegia 5a, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

spondylocostal dysostosis 2, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

?spinocerebellar ataxia, autosomal recessive 15 Gene Set

From OMIM Gene-Disease Associations

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

?spinocerebellar ataxia, autosomal recessive 17 Gene Set

From OMIM Gene-Disease Associations

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

epidermolysis bullosa, nonspecific, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

thrombophilia due to protein s deficiency, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

?microcephaly 11, primary, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

spastic paraplegia 18, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 40 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 44 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 46 Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

hydrocephalus, nonsyndromic, autosomal recessive 2 Gene Set

From OMIM Gene-Disease Associations

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

spastic paraplegia 32, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

neuromyotonia and axonal neuropathy, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

spastic paraplegia 53, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

ectopia lentis, isolated, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

heterotaxy, visceral, 6, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

cataract 22, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

microcephaly 5, primary, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

spastic ataxia 2, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

spastic ataxia 3, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

retinitis pigmentosa, juvenile, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

protoporphyria, erythropoietic, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

thrombophilia due to protein c deficiency, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

spastic paraplegia 30, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

myopia 23, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

?spastic paraplegia 43, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 32 Gene Set

From OMIM Gene-Disease Associations

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

hydrocephalus, nonsyndromic, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

spastic paraplegia 45, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

spastic paraplegia 25, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

inclusion body myopathy, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

spastic paraplegia 39, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive, 4 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive, 6 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive, 8 Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

spinocerebellar ataxia, autosomal recessive 7 Gene Set

From OMIM Gene-Disease Associations

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

spinocerebellar ataxia, autosomal recessive 3 Gene Set

From OMIM Gene-Disease Associations

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

spinocerebellar ataxia, autosomal recessive 2 Gene Set

From OMIM Gene-Disease Associations

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

spinocerebellar ataxia, autosomal recessive 8 Gene Set

From OMIM Gene-Disease Associations

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

spastic paraplegia 55, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

spinal muscular atrophy, chronic distal, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 30 Gene Set

From OMIM Gene-Disease Associations

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

spastic paraplegia 24, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

neutropenia, severe congenital 3, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

spastic paraplegia 28, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

nemaline myopathy 1, autosomal dominant or recessive Gene Set

From OMIM Gene-Disease Associations

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

{dyskeratosis congenita, autosomal recessive 4} Gene Set

From OMIM Gene-Disease Associations

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

microcephaly 9, primary, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 3 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 2 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 7 Gene Set

From OMIM Gene-Disease Associations

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

hypercholesterolemia, familial, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

nemaline myopathy 8, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

spastic paraplegia 11, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

spinocrebellar ataxia, autosomal recessive 12 Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

methionine adenosyltransferase deficiency, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

?coloboma, ocular, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

hypertrophic osteoarthropathy, primary, autosomal recessive 1 Gene Set

From OMIM Gene-Disease Associations

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

hypertrophic osteoarthropathy, primary, autosomal recessive 2 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 10/20 Gene Set

From OMIM Gene-Disease Associations

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

alport syndrome, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

dyskeratosis congenita, autosomal recessive 1 Gene Set

From OMIM Gene-Disease Associations

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

dyskeratosis congenita, autosomal recessive 2 Gene Set

From OMIM Gene-Disease Associations

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

dyskeratosis congenita, autosomal recessive 3 Gene Set

From OMIM Gene-Disease Associations

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

dyskeratosis congenita, autosomal recessive 5 Gene Set

From OMIM Gene-Disease Associations

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

bestrophinopathy, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

spastic paraplegia 46, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

spastic paraplegia 26, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

spastic paraplegia 51, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

microcephaly 6, primary, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

craniometaphyseal dysplasia, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

hsan2d, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

cutis laxa, autosomal recessive, type ia Gene Set

From OMIM Gene-Disease Associations

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

cutis laxa, autosomal recessive, type ib Gene Set

From OMIM Gene-Disease Associations

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

colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas Gene Set

From OMIM Gene-Disease Associations

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

spastic paraplegia 47, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

hypoparathyroidism, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

microcephaly 1, primary, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

retinitis pigmentosa-12, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

?microcephaly 8, primary, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

spinocerebellar ataxia, autosomal recessive 16 Gene Set

From OMIM Gene-Disease Associations

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

spinocerebellar ataxia, autosomal recessive 14 Gene Set

From OMIM Gene-Disease Associations

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

spinocerebellar ataxia, autosomal recessive 13 Gene Set

From OMIM Gene-Disease Associations

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

spinocerebellar ataxia, autosomal recessive 11 Gene Set

From OMIM Gene-Disease Associations

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

spinocerebellar ataxia, autosomal recessive 10 Gene Set

From OMIM Gene-Disease Associations

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

ichthyosis, congenital, autosomal recessive 4a Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

neutropenia, severe congenital, 6, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

ichthyosis, autosomal recessive 4b (harlequin) Gene Set

From OMIM Gene-Disease Associations

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

hyperekplexia, hereditary 1, autosomal dominant or recessive Gene Set

From OMIM Gene-Disease Associations

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

cutis laxa, autosomal recessive, type iiia Gene Set

From OMIM Gene-Disease Associations

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

cutis laxa, autosomal recessive, type iiib Gene Set

From OMIM Gene-Disease Associations

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

?mental retardation, autosomal recessive 45 Gene Set

From OMIM Gene-Disease Associations

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

?mental retardation, autosomal recessive 42 Gene Set

From OMIM Gene-Disease Associations

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

?mental retardation, autosomal recessive 43 Gene Set

From OMIM Gene-Disease Associations

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

retinitis pigmentosa 4, autosomal dominant or recessive Gene Set

From OMIM Gene-Disease Associations

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

spastic paraplegia 27, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

parkinson disease 15, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

myopathy, centronuclear, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 39 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 38 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 31 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 33 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 35 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 34 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 36 Gene Set

From OMIM Gene-Disease Associations

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

spastic paraplegia 52, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

candidiasis, familial, 5, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 13 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 12 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 16 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 15 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 14 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 19 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 18 Gene Set

From OMIM Gene-Disease Associations

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

candidiasis, familial, 4, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

hyper-ige recurrent infection syndrome, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

spastic paraplegia 14, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

neutropenia, severe congenital, 5, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

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

From OMIM Gene-Disease Associations

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

spastic paraplegia 56, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

spinocerebellar ataxia, autosomal recessive 5 Gene Set

From OMIM Gene-Disease Associations

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

microcephaly 3, primary, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

hypophosphatemic rickets, autosomal recessive, 2 Gene Set

From OMIM Gene-Disease Associations

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

cutis laxa, autosomal recessive, type ic Gene Set

From OMIM Gene-Disease Associations

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

spastic paraplegia 35, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

corneal endothelial dystrophy 2, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

nemaline myopathy 7, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

cutis laxa, autosomal recessive, type iia Gene Set

From OMIM Gene-Disease Associations

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

cutis laxa, autosomal recessive, type iib Gene Set

From OMIM Gene-Disease Associations

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

hyperekplexia 2, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperekplexia 2, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

neutropenia, severe congenital 4, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutropenia, severe congenital 4, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

renal tubular acidosis, distal, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the renal tubular acidosis, distal, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

ichthyosis, congenital, autosomal recessive 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ichthyosis, congenital, autosomal recessive 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

ichthyosis, congenital, autosomal recessive 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ichthyosis, congenital, autosomal recessive 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

ichthyosis, congenital, autosomal recessive 7 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ichthyosis, congenital, autosomal recessive 7 phenotype from the curated OMIM Gene-Disease Associations dataset.

ichthyosis, congenital, autosomal recessive 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ichthyosis, congenital, autosomal recessive 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

ichthyosis, congenital, autosomal recessive 2 Gene Set