Name

RNU6-45P Gene

RNA, U6 small nuclear 45, pseudogene

RNU7-45P Gene

RNA, U7 small nuclear 45 pseudogene

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

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

MRT8 Gene

mental retardation, non-syndromic, autosomal recessive, 8

MRT9 Gene

mental retardation, non-syndromic, autosomal recessive, 9

MRT25 Gene

mental retardation, non-syndromic, autosomal recessive, 25

MRT4 Gene

mental retardation, non-syndromic, autosomal recessive, 4

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

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]

LOC100132797 Gene

fragile X mental retardation, autosomal homolog 1 pseudogene

MRXSAB Gene

Abidi X-linked mental retardation syndrome

MRX18 Gene

mental retardation, X-linked 18

MRX11 Gene

mental retardation, X-linked 11

MRX12 Gene

mental retardation, X-linked 12

MRX15 Gene

mental retardation, X-linked 15

MRX14 Gene

mental retardation, X-linked 14

MRX17 Gene

mental retardation, X-linked 17

FMR1 Gene

fragile X mental retardation 1

The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010]

FMR3 Gene

fragile X mental retardation associated 3

AMMECR1 Gene

Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1

The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

MRX92 Gene

Mental retardation, X-linked 92

MRX95 Gene

Mental retardation, X-linked 95

HBHR Gene

alpha-thalassemia/mental retardation syndrome, type 1

ATRX Gene

alpha thalassemia/mental retardation syndrome X-linked

The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Mutations in this gene are associated with an X-linked mental retardation (XLMR) syndrome most often accompanied by alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Aug 2013]

CVMRF Gene

cubitus valgus with mental retardation and unusual facies

MRX42 Gene

mental retardation, X-linked 42

MRX40 Gene

mental retardation, X-linked 40

MRX49 Gene

mental retardation, X-linked 49

AMMEC Gene

Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis

DEL11P13 Gene

Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome

NUFIP2 Gene

nuclear fragile X mental retardation protein interacting protein 2

NUFIP1 Gene

nuclear fragile X mental retardation protein interacting protein 1

This gene encodes a nuclear RNA binding protein that contains a C2H2 zinc finger motif and a nuclear localization signal. This protein is associated with the nuclear matrix in perichromatin fibrils and, in neurons, localizes to the cytoplasm in association with endoplasmic reticulum ribosomes. This protein interacts with the fragile X mental retardation protein (FMRP), the tumor suppressor protein BRCA1, upregulates RNA polymerase II transcription, and is involved in box C/D snoRNP biogenesis. A pseudogene of this gene resides on chromosome 6q12. [provided by RefSeq, Feb 2012]

MRX37 Gene

mental retardation, X-linked 37

MRX35 Gene

mental retardation, X-linked 35

MRX31 Gene

mental retardation, X-linked 31

MRX39 Gene

mental retardation, X-linked 39

APMR3 Gene

Alopecia-mental retardation syndrome 3

APMR2 Gene

Alopecia with mental retardation syndrome 2

APMR1 Gene

Alopecia-mental retardation syndrome

DELXQ21 Gene

Choroideremia, deafness, and mental retardation

CLN8 Gene

ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)

This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with progressive epilepsy with mental retardation (EMPR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [provided by RefSeq, Jul 2008]

MRXS17 Gene

Mental retardation, X-linked, syndromic 17

MRXS12 Gene

Mental retardation, X-linked, syndromic 12

MRXS11 Gene

mental retardation, X-linked, syndromic 11

NUFIP1P Gene

nuclear fragile X mental retardation protein interacting protein 1 pseudogene

MRX69 Gene

mental retardation, X-linked 69

MRX64 Gene

mental retardation, X-linked 64

MRX65 Gene

mental retardation, X-linked 65

MRX61 Gene

mental retardation, X-linked 61

MEHMO Gene

mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly and obesity syndrome

MRXSA Gene

Armfield X-linked mental retardation syndrome

MRXSL Gene

Lubs X-linked mental retardation syndrome

MMRFCGU Gene

Microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations

MRX57 Gene

mental retardation, X-linked 57

MRX56 Gene

mental retardation, X-linked 56

MRX51 Gene

mental retardation, X-linked 51

MRX50 Gene

mental retardation, X-linked 50

MRX53 Gene

mental retardation, X-linked 53

MRX52 Gene

mental retardation, X-linked 52

MCS Gene

Miles-Carpenter X-linked mental retardation syndrome

MRXSMP Gene

Martin-Probst deafness-mental retardation syndrome

PRS Gene

Prieto X-linked mental retardation syndrome

MRX66 Gene

mental retardation, X-linked 66

MRX67 Gene

mental retardation, X-linked 67

MRX5 Gene

mental retardation, X-linked 5

MRX4 Gene

mental retardation, X-linked 4

MRX7 Gene

mental retardation, X-linked 7

MRX6 Gene

mental retardation, X-linked 6 (Okinawa type)

FRAXA Gene

fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation)

MRX8 Gene

mental retardation, X-linked 8

MRX82 Gene

mental retardation, X-linked 82

MRX80 Gene

mental retardation, X-linked 80

MRX81 Gene

mental retardation, X-linked 81

MRX86 Gene

mental retardation, X-linked 86

MRX84 Gene

mental retardation, X-linked 84

MRX88 Gene

Mental retardation, X-linked 88

MRX89 Gene

Mental retardation, X-linked 89

CHMRQ Gene

Cerebellar hypoplasia, mental retardation, and quadrupedal locomotion

MRX28 Gene

mental retardation, X-linked 28

MRXSCS Gene

Mental retardation, X-linked, syndromic, Chudley-Schwartz type

GUST Gene

Gustavson mental retardation syndrome (with microcephaly, optic

MRX73 Gene

mental retardation, X-linked 73

MRX71 Gene

mental retardation, X-linked 71

MRX70 Gene

mental retardation, X-linked 70

MRX75 Gene

mental retardation, X-linked 75

MRXS7 Gene

mental retardation, X-linked, syndromic 7

MRSD Gene

mental retardation-skeletal dysplasia

MRSS Gene

Mental retardation, X-linked, with short stature

MRST Gene

Mental retardation, severe, with spasticity and tapetoretinal

MRX77 Gene

mental retardation, X-linked 77

MRX78 Gene

mental retardation, X-linked 78

ANOP1 Gene

anophthalmos 1 (with mental retardation, without limb anomalies or dental or urogenital abnormalities)

FMR1NB Gene

fragile X mental retardation 1 neighbor

MRX20 Gene

mental retardation, X-linked 20

MRX23 Gene

mental retardation, X-linked 23

MRX24 Gene

mental retardation, X-linked 24

MRX25 Gene

mental retardation, X-linked 25

MRX26 Gene

mental retardation, X-linked 26

MRX27 Gene

mental retardation, X-linked 27

OPA6 Gene

optic atrophy 6 (autosomal recessive)

OPA3 Gene

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

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

SPG27 Gene

spastic paraplegia 27 (autosomal recessive)

SPG25 Gene

spastic paraplegia 25 (autosomal recessive, with disc herniation)

SPG24 Gene

spastic paraplegia 24 (autosomal recessive)

SPG21 Gene

spastic paraplegia 21 (autosomal recessive, Mast syndrome)

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

SPG23 Gene

spastic paraplegia 23 (autosomal recessive)

DFNB45 Gene

deafness, autosomal recessive 45

DFNB20 Gene

deafness, autosomal recessive 20

DFNB26 Gene

deafness, autosomal recessive 26

DFNB27 Gene

deafness, autosomal recessive 27

MYP18 Gene

myopia 18 (high grade, autosomal recessive)

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

CMR2A Gene

cardiomyopathy, restrictive 2A (autosomal recessive)

HOAC Gene

hypoacusis 2 (autosomal recessive)

DFNB75 Gene

deafness, autosomal recessive 75

SCAR2 Gene

spinocerebellar ataxia, autosomal recessive 2

SCAR3 Gene

spinocerebellar ataxia, autosomal recessive 3

DFNB81 Gene

deafness, autosomal recessive 81

CTRCT34 Gene

Cataract, autosomal recessive congenital 3

CTRCT35 Gene

cataract, congenital nuclear, autosomal recessive

PKHD1L1 Gene

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

SPG45 Gene

spastic paraplegia 45 (autosomal recessive)

SPG7 Gene

spastic paraplegia 7 (pure and complicated autosomal recessive)

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

DFNB62 Gene

deafness, autosomal recessive 62

DFNB60 Gene

deafness, autosomal recessive 60

DFNB68 Gene

deafness, autosomal recessive 68

DFNB69 Gene

deafness, autosomal recessive 69

SPG11 Gene

spastic paraplegia 11 (autosomal recessive)

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

DYT2 Gene

dystonia 2, torsion (autosomal recessive)

DFNB85 Gene

deafness, autosomal recessive 85

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

DFNB83 Gene

deafness, autosomal recessive 83

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

SPG14 Gene

spastic paraplegia 14 (autosomal recessive)

USH2A Gene

Usher syndrome 2A (autosomal recessive, mild)

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

DFNB59 Gene

deafness, autosomal recessive 59

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

DFNB57 Gene

deafness, autosomal recessive 57

DFNB56 Gene

deafness, autosomal recessive 56

DFNB55 Gene

deafness, autosomal recessive 55

ECB2 Gene

erythrocytosis, autosomal recessive benign 2

RP22 Gene

retinitis pigmentosa 22 (autosomal recessive)

RP29 Gene

retinitis pigmentosa 29 (autosomal recessive)

MHB Gene

myopathy, hyaline body, autosomal recessive

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)

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

USH1K Gene

Usher syndrome 1K (autosomal recessive)

SMAR Gene

Spinal muscular atrophy, chronic distal, autosomal recessive

DFNB5 Gene

deafness, autosomal recessive 5

SPAX3 Gene

Ataxia, spastic, 3, autosomal recessive

DFNB38 Gene

deafness, autosomal recessive 38

DFNB31 Gene

deafness, autosomal recessive 31

This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing 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

USH1H Gene

Usher syndrome 1H (autosomal recessive)

USH1C Gene

Usher syndrome 1C (autosomal recessive, severe)

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

USH1G Gene

Usher syndrome 1G (autosomal recessive)

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

USH1E Gene

Usher syndrome 1E (autosomal recessive, severe)

DFNB43 Gene

deafness, autosomal recessive 43

DFNB46 Gene

deafness, autosomal recessive 46

CTPL1 Gene

cataract, pulverulent (autosomal recessive, early-onset)

DFNB40 Gene

deafness, autosomal recessive 40

DFNB47 Gene

deafness, autosomal recessive 47

SPG32 Gene

spastic paraplegia 32 (autosomal recessive)

DFNB51 Gene

deafness, autosomal recessive 51

OA3 Gene

ocular albinism 3 (autosomal recessive)

MCOP1 Gene

microphthalmia, autosomal recessive

SPG5B Gene

spastic paraplegia 5B (autosomal recessive)

ARCI9 Gene

Ichthyosis, congenital, autosomal recessive 9

ARCI7 Gene

Ichthyosis, congenital, autosomal recessive 7

PKHD1 Gene

polycystic kidney and hepatic disease 1 (autosomal recessive)

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

DFNB13 Gene

deafness, autosomal recessive 13

DFNB17 Gene

deafness, autosomal recessive 17

DFNB14 Gene

deafness, autosomal recessive 14

HYD2 Gene

hypodontia 2 (autosomal recessive)

OCA5 Gene

oculocutaneous albinism 5 (autosomal recessive)

DFNB96 Gene

deafness, autosomal recessive 96

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

DFNM1 Gene

deafness (recessive, nonsyndromic) modifier 1

MHW2 Gene

Mental health wellness 2

MHW1 Gene

Mental health wellness 1

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)

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]

MYP19 Gene

Myopia 19, autosomal dominant

MYP11 Gene

myopia 11 (high grade, autosomal dominant)

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

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]

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)

DFNA16 Gene

deafness, autosomal dominant 16

DFNA18 Gene

deafness, autosomal dominant 18

DFNA19 Gene

deafness, autosomal dominant 19

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

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

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)

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

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

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

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)

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 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.

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.

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.

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.

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.

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.

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.

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.

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 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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

?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.

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.

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.

mental retardation, autosomal recessive 41 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive, 11 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 5 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal recessive 1 Gene Set

From OMIM Gene-Disease Associations

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

?mental retardation, autosomal recessive, 37 Gene Set

From OMIM Gene-Disease Associations

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

growth retardation with deafness and mental retardation due to igf1 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the growth retardation with deafness and mental retardation due to igf1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

Mental retardation, autosomal dominant 30 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 30 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 24 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 24 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 28 Gene Set

From ClinVar Gene-Phenotype Associations

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

Mental retardation, autosomal dominant 23 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 23 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 27 Gene Set

From ClinVar Gene-Phenotype Associations

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

Mental retardation, autosomal dominant 29 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 29 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 19 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 19 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 13 Gene Set

From ClinVar Gene-Phenotype Associations

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

Mental retardation, autosomal dominant 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Mental retardation, autosomal dominant 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Mental retardation, autosomal dominant 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

Mental retardation, autosomal dominant 7 Gene Set

From ClinVar Gene-Phenotype Associations

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

Mental retardation, autosomal dominant 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal dominant 18 Gene Set

From ClinVar Gene-Phenotype Associations

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

Mental retardation, autosomal dominant 12 Gene Set

From ClinVar Gene-Phenotype Associations

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

Mental retardation, autosomal dominant 15 Gene Set

From ClinVar Gene-Phenotype Associations

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

Mental retardation, autosomal dominant 14 Gene Set

From ClinVar Gene-Phenotype Associations

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

Mental retardation, autosomal dominant 17 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal dominant 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental Retardation, Autosomal Dominant 3 Gene Set

From CTD Gene-Disease Associations

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

Mental Retardation, Autosomal Dominant 5 Gene Set

From CTD Gene-Disease Associations

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

Mental Retardation, Autosomal Dominant 4 Gene Set

From CTD Gene-Disease Associations

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

MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Autosomal Dominant 1 Gene Set

From CTD Gene-Disease Associations

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

mental retardation, autosomal dominant 19 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal dominant 18 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal dominant 10 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal dominant 13 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal dominant 12 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal dominant 15 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal dominant 14 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal dominant 17 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal dominant 16 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal dominant 30 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal dominant 9 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal dominant 8 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal dominant 1 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal dominant 3 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal dominant 2 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal dominant 5 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal dominant 4 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal dominant 7 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal dominant 6 Gene Set

From OMIM Gene-Disease Associations

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

?mental retardation, autosomal dominant 22 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal dominant 31 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal dominant 21 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal dominant 23 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal dominant 24 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal dominant 26 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal dominant 29 Gene Set

From OMIM Gene-Disease Associations

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

?mental retardation, autosomal dominant 11 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal dominant, 27 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, autosomal dominant, 28 Gene Set

From OMIM Gene-Disease Associations

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

X-linked mental retardation 58 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked mental retardation 58 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arthrogryposis, mental retardation, and seizures Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arthrogryposis, mental retardation, and seizures phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, X-linked 45 Gene Set

From ClinVar Gene-Phenotype Associations

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

Ichthyosis, spastic quadriplegia, and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ichthyosis, spastic quadriplegia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked mental retardation, syndromic, Claes-Jensen type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked mental retardation, syndromic, Claes-Jensen type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked mental retardation 63 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked mental retardation 63 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation with language impairment and autistic features Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation with language impairment and autistic features phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, X-linked, syndromic, turner type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, X-linked, syndromic, turner type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked mental retardation 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked mental retardation 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, anterior maxillary protrusion, and strabismus Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, anterior maxillary protrusion, and strabismus phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-Linked mental retardation 90 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-Linked mental retardation 90 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation X-linked syndromic 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation X-linked syndromic 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly with mental retardation and digital anomalies Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly with mental retardation and digital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Syndromic X-linked mental retardation 16 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Syndromic X-linked mental retardation 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Siderius X-linked mental retardation syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Siderius X-linked mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked mental retardation with marfanoid habitus syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked mental retardation with marfanoid habitus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Iris coloboma with ptosis, hypertelorism, and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Iris coloboma with ptosis, hypertelorism, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Wilson-Turner X-linked mental retardation syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Wilson-Turner X-linked mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked mental retardation 18 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked mental retardation 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, X-linked, syndromic, raymond type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, X-linked, syndromic, raymond type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked mental retardation, syndromic 14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked mental retardation, syndromic 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Birk Barel mental retardation dysmorphism syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Birk Barel mental retardation dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperphosphatasia with mental retardation syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperphosphatasia with mental retardation syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperphosphatasia with mental retardation syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperphosphatasia with mental retardation syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperphosphatasia with mental retardation syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperphosphatasia with mental retardation syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperphosphatasia with mental retardation syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperphosphatasia with mental retardation syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperphosphatasia with mental retardation syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperphosphatasia with mental retardation syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, X-linked 19 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, X-linked 19 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coloboma, uveal, with cleft lip and palate and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coloboma, uveal, with cleft lip and palate and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

ZNF711-Related X-linked Mental Retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the ZNF711-Related X-linked Mental Retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked rolandic epilepsy with mental retardation and speech dyspraxia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked rolandic epilepsy with mental retardation and speech dyspraxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked mental retardation, with or without seizures, ARX-related Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked mental retardation, with or without seizures, ARX-related phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Focal epilepsy with speech disorder with or without mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Focal epilepsy with speech disorder with or without mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, X-linked, syndromic 32 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, X-linked, syndromic 32 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, X-linked, syndromic, wu type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, X-linked, syndromic, wu type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-Linked Mental Retardation 41 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-Linked Mental Retardation 41 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, X-linked, syndromic, Hedera type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, X-linked, syndromic, Hedera type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked syndromic mental retardation, Nascimento type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked syndromic mental retardation, Nascimento type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Aniridia, cerebellar ataxia, and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Aniridia, cerebellar ataxia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

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

From ClinVar Gene-Phenotype Associations

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

X-linked mental retardation 21 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked mental retardation 21 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alacrima, achalasia, and mental retardation syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alacrima, achalasia, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, X-linked, nonspecific Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, X-linked, nonspecific phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked mental retardation 30 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked mental retardation 30 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, X-linked, syndromic 10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, X-linked, syndromic 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation and microcephaly with pontine and cerebellar hypoplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation and microcephaly with pontine and cerebellar hypoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Skeletal defects, genital hypoplasia, and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Skeletal defects, genital hypoplasia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Growth deficiency and mental retardation with facial dysmorphism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Growth deficiency and mental retardation with facial dysmorphism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked mental retardation with short stature, hypogonadism and abnormal gait Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked mental retardation with short stature, hypogonadism and abnormal gait phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, X-linked 93 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, X-linked 93 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, X-linked 96 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, X-linked 96 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, X-linked 98 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, X-linked 98 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, X-linked 99 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, X-linked 99 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, X-linked 72 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, X-linked 72 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Siderius X-linked mental retardation syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Siderius X-linked mental retardation syndrome from the curated CTD Gene-Disease Associations dataset.

MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS from the curated CTD Gene-Disease Associations dataset.

Partington X-linked mental retardation syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Partington X-linked mental retardation syndrome from the curated CTD Gene-Disease Associations dataset.

Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia from the curated CTD Gene-Disease Associations dataset.

Alopecia-Mental Retardation Syndrome 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Alopecia-Mental Retardation Syndrome 1 from the curated CTD Gene-Disease Associations dataset.

Alopecia-Mental Retardation Syndrome 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Alopecia-Mental Retardation Syndrome 2 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, X-Linked 30 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, X-Linked 30 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, X-Linked 23 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, X-Linked 23 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, X-Linked 91 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, X-Linked 91 from the curated CTD Gene-Disease Associations dataset.

Miles-Carpenter x-linked mental retardation syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Miles-Carpenter x-linked mental retardation syndrome from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, X-Linked 95 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, X-Linked 95 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, X-Linked 9 Gene Set

From CTD Gene-Disease Associations

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

Mental Retardation, X-Linked 77 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, X-Linked 77 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, X-Linked, Syndromic 13 Gene Set

From CTD Gene-Disease Associations

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

Mental Retardation, X-Linked, Syndromic 12 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, X-Linked, Syndromic 12 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, X-Linked, Syndromic 14 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, X-Linked, Syndromic 14 from the curated CTD Gene-Disease Associations dataset.

MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE from the curated CTD Gene-Disease Associations dataset.

MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, X-Linked 3 Gene Set

From CTD Gene-Disease Associations

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

Lubs X-linked mental retardation syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lubs X-linked mental retardation syndrome from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Fra12a Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Fra12a Type from the curated CTD Gene-Disease Associations dataset.

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, X-Linked, with Short Stature Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, X-Linked, with Short Stature from the curated CTD Gene-Disease Associations dataset.

Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Skeletal Dysplasia, and Abducens Palsy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Skeletal Dysplasia, and Abducens Palsy from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, X-Linked 20 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, X-Linked 20 from the curated CTD Gene-Disease Associations dataset.

Mental retardation X-linked syndromic 7 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental retardation X-linked syndromic 7 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, X-Linked 17 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, X-Linked 17 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, X-Linked, Syndromic, Jarid1c-Related Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, X-Linked, Syndromic, Jarid1c-Related from the curated CTD Gene-Disease Associations dataset.

X-linked mental retardation Gustavson type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease X-linked mental retardation Gustavson type from the curated CTD Gene-Disease Associations dataset.

Epilepsy, Female-Restricted, with Mental Retardation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epilepsy, Female-Restricted, with Mental Retardation from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, X-Linked 81 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, X-Linked 81 from the curated CTD Gene-Disease Associations dataset.

Mental retardation, X-linked 14 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental retardation, X-linked 14 from the curated CTD Gene-Disease Associations dataset.

Scaphocephaly, Maxillary Retrusion, And Mental Retardation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Scaphocephaly, Maxillary Retrusion, And Mental Retardation from the curated CTD Gene-Disease Associations dataset.

Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type from the curated CTD Gene-Disease Associations dataset.

Mental retardation-hypotonic facies syndrome, x-linked, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental retardation-hypotonic facies syndrome, x-linked, 1 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, X-Linked, Syndromic, Christianson Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, X-Linked, Syndromic, Christianson Type from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, X-Linked 84 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, X-Linked 84 from the curated CTD Gene-Disease Associations dataset.

Mental retardation, X-linked, syndromic 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental retardation, X-linked, syndromic 5 from the curated CTD Gene-Disease Associations dataset.

BRACHYDACTYLY-MENTAL RETARDATION SYNDROME Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease BRACHYDACTYLY-MENTAL RETARDATION SYNDROME from the curated CTD Gene-Disease Associations dataset.

Birk-Barel Mental Retardation Dysmorphism Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Birk-Barel Mental Retardation Dysmorphism Syndrome from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 from the curated CTD Gene-Disease Associations dataset.

MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome from the curated CTD Gene-Disease Associations dataset.

MENTAL RETARDATION, X-LINKED 21 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MENTAL RETARDATION, X-LINKED 21 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, X-Linked, with Epilepsy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, X-Linked, with Epilepsy from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, X-Linked 78 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, X-Linked 78 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, X-Linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, X-Linked from the curated CTD Gene-Disease Associations dataset.

Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, X-Linked 1 Gene Set

From CTD Gene-Disease Associations

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

Mental Retardation, X-Linked 73 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, X-Linked 73 from the curated CTD Gene-Disease Associations dataset.

Abidi X-linked mental retardation syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Abidi X-linked mental retardation syndrome from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, X-Linked 82 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, X-Linked 82 from the curated CTD Gene-Disease Associations dataset.

MENTAL RETARDATION, X-LINKED 96 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MENTAL RETARDATION, X-LINKED 96 from the curated CTD Gene-Disease Associations dataset.

Skeletal Defects, Genital Hypoplasia, And Mental Retardation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Skeletal Defects, Genital Hypoplasia, And Mental Retardation from the curated CTD Gene-Disease Associations dataset.

MENTAL RETARDATION, X-LINKED 49 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MENTAL RETARDATION, X-LINKED 49 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, X-Linked, With Panhypopituitarism Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, X-Linked, With Panhypopituitarism from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related from the curated CTD Gene-Disease Associations dataset.

Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 from the curated CTD Gene-Disease Associations dataset.

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

From CTD Gene-Disease Associations

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

Mental Retardation, X-Linked 52 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, X-Linked 52 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, X-Linked 53 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, X-Linked 53 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, X-Linked 58 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, X-Linked 58 from the curated CTD Gene-Disease Associations dataset.

PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, X-Linked 63 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, X-Linked 63 from the curated CTD Gene-Disease Associations dataset.

Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome from the curated CTD Gene-Disease Associations dataset.

Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis from the curated CTD Gene-Disease Associations dataset.

Armfield X-Linked Mental Retardation Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Armfield X-Linked Mental Retardation Syndrome from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, X-Linked 42 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, X-Linked 42 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, X-Linked 93 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, X-Linked 93 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, X-Linked 94 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, X-Linked 94 from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 from the curated CTD Gene-Disease Associations dataset.

Cleft Palate, Isolated, And Mental Retardation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cleft Palate, Isolated, And Mental Retardation from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, X-Linked, Syndromic, Turner Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, X-Linked, Syndromic, Turner Type from the curated CTD Gene-Disease Associations dataset.

Microcephaly with Mental Retardation and Digital Anomalies Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microcephaly with Mental Retardation and Digital Anomalies from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 from the curated CTD Gene-Disease Associations dataset.

MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, X-Linked 72 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, X-Linked 72 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, X-Linked 45 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, X-Linked 45 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, X-Linked 46 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, X-Linked 46 from the curated CTD Gene-Disease Associations dataset.

Prieto X-linked mental retardation syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Prieto X-linked mental retardation syndrome from the curated CTD Gene-Disease Associations dataset.

Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, X-Linked, Syndromic 10 Gene Set

From CTD Gene-Disease Associations

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

Martin-Probst Deafness-Mental Retardation Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Martin-Probst Deafness-Mental Retardation Syndrome from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, X-Linked 50 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, X-Linked 50 from the curated CTD Gene-Disease Associations dataset.

Cubitus Valgus with Mental Retardation and Unusual Facies Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cubitus Valgus with Mental Retardation and Unusual Facies from the curated CTD Gene-Disease Associations dataset.

Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked from the curated CTD Gene-Disease Associations dataset.

Parkinsonism, early onset with mental retardation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Parkinsonism, early onset with mental retardation from the curated CTD Gene-Disease Associations dataset.

non-specific x-linked mental retardation Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease non-specific x-linked mental retardation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

epilepsy; mental retardation Gene Set

From GAD Gene-Disease Associations

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

mental retardation; rett syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease mental retardation; rett syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; craniofacial abnormalities; mental retardation; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; craniofacial abnormalities; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

language development disorders; mental retardation Gene Set

From GAD Gene-Disease Associations

genes associated with the disease language development disorders; mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fragile x syndrome; mental retardation; spinocerebellar degenerations; tremor Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fragile x syndrome; mental retardation; spinocerebellar degenerations; tremor in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fragile x syndrome; fragile x syndromes; mental retardation Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fragile x syndrome; fragile x syndromes; mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

mental retardation; muscular dystrophy, duchenne Gene Set

From GAD Gene-Disease Associations

genes associated with the disease mental retardation; muscular dystrophy, duchenne in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

violent offenders with mental retardation Gene Set

From GAD Gene-Disease Associations

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

schizophrenia; mental retardation Gene Set

From GAD Gene-Disease Associations

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

leukomalacia, periventricular; mental retardation Gene Set

From GAD Gene-Disease Associations

genes associated with the disease leukomalacia, periventricular; mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

mental retardation; syndrome Gene Set

From GAD Gene-Disease Associations

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

non-syndromic x-linked mental retardation Gene Set

From GAD Gene-Disease Associations

genes associated with the disease non-syndromic x-linked mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

epilepsy and mental retardation Gene Set

From GAD Gene-Disease Associations

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

brain diseases; mental retardation, x-linked Gene Set

From GAD Gene-Disease Associations

genes associated with the disease brain diseases; mental retardation, x-linked in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; ectodermal dysplasia; heart defects, congenital; mental retardation; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; ectodermal dysplasia; heart defects, congenital; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital abnormalities; mental retardation Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital abnormalities; mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

learning disorders; memory disorders; mental retardation Gene Set

From GAD Gene-Disease Associations

genes associated with the disease learning disorders; memory disorders; mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

x-linked mental retardation Gene Set

From GAD Gene-Disease Associations

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

mental retardation, x-linked Gene Set

From GAD Gene-Disease Associations

genes associated with the disease mental retardation, x-linked in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

mental retardation, x-linked; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease mental retardation, x-linked; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

mental retardation; microcephaly Gene Set

From GAD Gene-Disease Associations

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

mental retardation Gene Set

From GAD Gene-Disease Associations

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

Mental Retardation, X-Linked Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Mental Retardation, X-Linked phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Mental Retardation Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Nuclear fragile X mental retardation-interacting protein 1, conserved domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Nuclear fragile X mental retardation-interacting protein 1, conserved domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Fragile X mental retardation protein family Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Fragile X mental retardation protein family protein domain from the InterPro Predicted Protein Domain Annotations dataset.

mental retardation, severe, with spasticity and tapetoretinal degeneration Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, severe, with spasticity and tapetoretinal degeneration phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked 84 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked 84 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked 81 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked 81 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked 82 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked 82 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked 89 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked 89 phenotype from the curated OMIM Gene-Disease Associations dataset.

cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation with language impairment and autistic features Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation with language impairment and autistic features phenotype from the curated OMIM Gene-Disease Associations dataset.

?rolandic epilepsy, mental retardation, and speech dyspraxia Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?rolandic epilepsy, mental retardation, and speech dyspraxia phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked, snyder-robinson type Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked, snyder-robinson type phenotype from the curated OMIM Gene-Disease Associations dataset.

skeletal defects, genital hypoplasia, and mental retardation Gene Set

From OMIM Gene-Disease Associations

genes associated with the skeletal defects, genital hypoplasia, and mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked 30/47 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked 30/47 phenotype from the curated OMIM Gene-Disease Associations dataset.

?mental retardation, x-linked syndromic 10 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?mental retardation, x-linked syndromic 10 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, anterior maxillary protrusion, and strabismus Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, anterior maxillary protrusion, and strabismus phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation syndrome, x-linked, siderius type Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation syndrome, x-linked, siderius type phenotype from the curated OMIM Gene-Disease Associations dataset.

alpha-thalassemia/mental retardation syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the alpha-thalassemia/mental retardation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked syndromic 16 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked syndromic 16 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked, fraxe type Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked, fraxe type phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation syndrome, x-linked, armfield type Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation syndrome, x-linked, armfield type phenotype from the curated OMIM Gene-Disease Associations dataset.

?mental retardation, x-linked, syndromic 12 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?mental retardation, x-linked, syndromic 12 phenotype from the curated OMIM Gene-Disease Associations dataset.

corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia Gene Set

From OMIM Gene-Disease Associations

genes associated with the corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, truncal obesity, retinal dystrophy, and micropenis Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, truncal obesity, retinal dystrophy, and micropenis phenotype from the curated OMIM Gene-Disease Associations dataset.

alacrima, achalasia, and mental retardation syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the alacrima, achalasia, and mental retardation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

hyperphosphatasia with mental retardation syndrome 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperphosphatasia with mental retardation syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

hyperphosphatasia with mental retardation syndrome 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperphosphatasia with mental retardation syndrome 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

hyperphosphatasia with mental retardation syndrome 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperphosphatasia with mental retardation syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

hyperphosphatasia with mental retardation syndrome 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperphosphatasia with mental retardation syndrome 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked, with isolated growth hormone deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked, with isolated growth hormone deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

?arthrogryposis, mental retardation, and seizures Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?arthrogryposis, mental retardation, and seizures phenotype from the curated OMIM Gene-Disease Associations dataset.

?mental retardation, x-linked, syndromic, hedera type Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?mental retardation, x-linked, syndromic, hedera type phenotype from the curated OMIM Gene-Disease Associations dataset.

?mental retardation, x-linked 91 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?mental retardation, x-linked 91 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked 90 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked 90 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked 98 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked 98 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked syndromic, shashi type Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked syndromic, shashi type phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation-hypotonic facies syndrome, x-linked Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation-hypotonic facies syndrome, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type b, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type b, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked 78 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked 78 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked 72 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked 72 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked, syndromic 32 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked, syndromic 32 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked 52 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked 52 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked 53 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked 53 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked 50 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked 50 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked 58 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked 58 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked, syndromic, claes-jensen type Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked, syndromic, claes-jensen type phenotype from the curated OMIM Gene-Disease Associations dataset.

waisman parkinsonism-mental retardation syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the waisman parkinsonism-mental retardation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked syndromic, nascimento-type Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked syndromic, nascimento-type phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked 21/34 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked 21/34 phenotype from the curated OMIM Gene-Disease Associations dataset.

?cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

choroideremia, deafness, and mental retardation Gene Set

From OMIM Gene-Disease Associations

genes associated with the choroideremia, deafness, and mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked, syndromic 13 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked, syndromic 13 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked, syndromic 17 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked, syndromic 17 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked, syndromic 14 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked, syndromic 14 phenotype from the curated OMIM Gene-Disease Associations dataset.

cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

?stocco dos santos x-linked mental retardation syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?stocco dos santos x-linked mental retardation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked 19 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, x-linked 14 Gene Set

From OMIM Gene-Disease Associations

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

birk-barel mental retardation dysmorphism syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the birk-barel mental retardation dysmorphism syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked 77 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked 77 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked 9 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked 9 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked 1 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, x-linked 2 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, x-linked, syndromic 15 (cabezas type) Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked, syndromic 15 (cabezas type) phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations phenotype from the curated OMIM Gene-Disease Associations dataset.

brachydactyly-mental retardation syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the brachydactyly-mental retardation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked, with short stature Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked, with short stature phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked, syndromic, chudley-schwartz type, Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked, syndromic, chudley-schwartz type, phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked 92 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked 92 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked 93 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked 93 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked 96 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked 96 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked 97 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked 97 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked 94 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked 94 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked 95 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked 95 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked 99 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked 99 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation and microcephaly with pontine and cerebellar hypoplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation and microcephaly with pontine and cerebellar hypoplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

alopecia-mental retardation syndrome 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the alopecia-mental retardation syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

alopecia-mental retardation syndrome 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the alopecia-mental retardation syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

alopecia-mental retardation syndrome 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the alopecia-mental retardation syndrome 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

scaphocephaly, maxillary retrusion, and mental retardation Gene Set

From OMIM Gene-Disease Associations

genes associated with the scaphocephaly, maxillary retrusion, and mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation-skeletal dysplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation-skeletal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked syndromic, raymond type Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked syndromic, raymond type phenotype from the curated OMIM Gene-Disease Associations dataset.

wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

cubitus valgus with mental retardation and unusual facies Gene Set

From OMIM Gene-Disease Associations

genes associated with the cubitus valgus with mental retardation and unusual facies phenotype from the curated OMIM Gene-Disease Associations dataset.

cerebellar ataxia, nonprogressive, with mental retardation Gene Set

From OMIM Gene-Disease Associations

genes associated with the cerebellar ataxia, nonprogressive, with mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset.

cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked syndromic, abidi type Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked syndromic, abidi type phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephaly with or without chorioretinopathy, lymphedema, or mental retardation Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly with or without chorioretinopathy, lymphedema, or mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, with or without nystagmus Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, with or without nystagmus phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked syndromic 7 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked syndromic 7 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked syndromic 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked syndromic 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

alpha-thalassemia/mental retardation syndrome, type 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the alpha-thalassemia/mental retardation syndrome, type 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

?hyperphosphatasia with mental retardation syndrome 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?hyperphosphatasia with mental retardation syndrome 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked 63 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked 63 phenotype from the curated OMIM Gene-Disease Associations dataset.

?mental retardation, x-linked 101 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?mental retardation, x-linked 101 phenotype from the curated OMIM Gene-Disease Associations dataset.

?mental retardation, x-linked 100 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?mental retardation, x-linked 100 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked syndromic, turner type Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked syndromic, turner type phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked 49 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked 49 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked 41 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, x-linked 42 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked 42 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked 45 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked 45 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked 46 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, x-linked syndromic, lubs type Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked syndromic, lubs type phenotype from the curated OMIM Gene-Disease Associations dataset.

epilepsy, focal, with speech disorder and with or without mental retardation Gene Set

From OMIM Gene-Disease Associations

genes associated with the epilepsy, focal, with speech disorder and with or without mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked 23 Gene Set

From OMIM Gene-Disease Associations

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

mental retardation, x-linked 20 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked 20 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked 29 and others Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked 29 and others phenotype from the curated OMIM Gene-Disease Associations dataset.

ichthyosis, spastic quadriplegia, and mental retardation Gene Set

From OMIM Gene-Disease Associations

genes associated with the ichthyosis, spastic quadriplegia, and mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked 3 (methylmalonic acidemia and homocysteinemia, cblx type ) Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked 3 (methylmalonic acidemia and homocysteinemia, cblx type ) phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type b, 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type b, 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation Gene Set

From OMIM Gene-Disease Associations

genes associated with the coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset.

alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, fra12a type Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, fra12a type phenotype from the curated OMIM Gene-Disease Associations dataset.

megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation Gene Set

From OMIM Gene-Disease Associations

genes associated with the megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked syndromic, christianson type Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked syndromic, christianson type phenotype from the curated OMIM Gene-Disease Associations dataset.

birth weight; fetal growth retardation; intrauterine growth retardation; vitamin d deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease birth weight; fetal growth retardation; intrauterine growth retardation; vitamin d deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abruptio placentae; fetal death; fetal growth retardation; intrauterine growth retardation; placenta abruptio; placenta diseases; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abruptio placentae; fetal death; fetal growth retardation; intrauterine growth retardation; placenta abruptio; placenta diseases; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abruptio placentae; congenital abnormalities; fetal growth retardation; intrauterine growth retardation; placenta abruptio; pregnancy complications Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abruptio placentae; congenital abnormalities; fetal growth retardation; intrauterine growth retardation; placenta abruptio; pregnancy complications in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abortion, habitual; activated protein c resistance; fetal growth retardation; hypertension; intrauterine growth retardation; pre-eclampsia; pregnancy complications, hematologic; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abortion, habitual; activated protein c resistance; fetal growth retardation; hypertension; intrauterine growth retardation; pre-eclampsia; pregnancy complications, hematologic; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

birth weight; fetal growth retardation; intrauterine growth retardation; pre-eclampsia; recurrence Gene Set

From GAD Gene-Disease Associations

genes associated with the disease birth weight; fetal growth retardation; intrauterine growth retardation; pre-eclampsia; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abruptio placentae; fetal growth retardation; intrauterine growth retardation; placenta abruptio; pre-eclampsia; pregnancy complications Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abruptio placentae; fetal growth retardation; intrauterine growth retardation; placenta abruptio; pre-eclampsia; pregnancy complications in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fetal growth retardation; hellp syndrome; intrauterine growth retardation; pregnancy complications, hematologic; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fetal growth retardation; hellp syndrome; intrauterine growth retardation; pregnancy complications, hematologic; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fetal growth retardation; intrauterine growth retardation; pregnancy complications, hematologic; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fetal growth retardation; intrauterine growth retardation; pregnancy complications, hematologic; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abortion, spontaneous; abruptio placentae; fetal death; fetal growth retardation; intrauterine growth retardation; placenta abruptio Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abortion, spontaneous; abruptio placentae; fetal death; fetal growth retardation; intrauterine growth retardation; placenta abruptio in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fetal growth retardation; infant, premature, diseases; intrauterine growth retardation; sepsis; systemic infection Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fetal growth retardation; infant, premature, diseases; intrauterine growth retardation; sepsis; systemic infection in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fetal diseases; fetal growth retardation; hypertension induced by pregnancy; hypertension, pregnancy-induced; intrauterine growth retardation; pre-eclampsia; pregnancy complications, hematologic; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fetal diseases; fetal growth retardation; hypertension induced by pregnancy; hypertension, pregnancy-induced; intrauterine growth retardation; pre-eclampsia; pregnancy complications, hematologic; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abortion, spontaneous; activated protein c resistance; fetal growth retardation; intrauterine growth retardation; pre-eclampsia; pregnancy complications, hematologic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abortion, spontaneous; activated protein c resistance; fetal growth retardation; intrauterine growth retardation; pre-eclampsia; pregnancy complications, hematologic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

birth weight; fetal alcohol syndrome; fetal growth retardation; intrauterine growth retardation; syndrome; fetal, alcohol (dysmorphic) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease birth weight; fetal alcohol syndrome; fetal growth retardation; intrauterine growth retardation; syndrome; fetal, alcohol (dysmorphic) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abruptio placentae; fetal death; fetal growth retardation; intrauterine growth retardation; placenta abruptio; pre-eclampsia; pregnancy complications, hematologic; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abruptio placentae; fetal death; fetal growth retardation; intrauterine growth retardation; placenta abruptio; pre-eclampsia; pregnancy complications, hematologic; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fetal growth retardation; hellp syndrome; intrauterine growth retardation; pre-eclampsia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fetal growth retardation; hellp syndrome; intrauterine growth retardation; pre-eclampsia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fetal growth retardation; intrauterine growth retardation; pre-eclampsia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fetal growth retardation; intrauterine growth retardation; pre-eclampsia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fetal growth retardation; intrauterine growth retardation; pregnancy complications Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fetal growth retardation; intrauterine growth retardation; pregnancy complications in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fetal growth retardation; intrauterine growth retardation Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fetal growth retardation; intrauterine growth retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

birth weight; fetal growth retardation; intrauterine growth retardation Gene Set

From GAD Gene-Disease Associations

genes associated with the disease birth weight; fetal growth retardation; intrauterine growth retardation in GWAS and other genetic association datasets from the GAD 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.

Deafness, autosomal recessive 101 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 103 Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive hypophosphatemic vitamin D refractory rickets Gene Set

From ClinVar Gene-Phenotype Associations

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

Thrombophilia due to protein S deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive cutis laxa type 1B Gene Set

From ClinVar Gene-Phenotype Associations

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

Auditory neuropathy, autosomal recessive, 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Hypercholesterolemia, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Alport syndrome, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Nemaline myopathy 3, autosomal dominant or recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Ectopia lentis, isolated autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Primary hypertrophic osteoarthropathy, autosomal recessive 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive hypophosphatemic bone disease Gene Set

From ClinVar Gene-Phenotype Associations

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

Inflammatory bowel disease 25, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 30 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 37 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 35 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 39 Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Osteopetrosis, autosomal recessive 8 Gene Set

From ClinVar Gene-Phenotype Associations

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

Spastic paraplegia 46, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Spastic paraplegia 48, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Tetraamelia, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 25 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 24 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 23 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 22 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 29 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 28 Gene Set

From ClinVar Gene-Phenotype Associations

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

Thyroid hormone resistance, generalized, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Primary autosomal recessive microcephaly 7 Gene Set

From ClinVar Gene-Phenotype Associations

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

Primary autosomal recessive microcephaly 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 59 Gene Set

From ClinVar Gene-Phenotype Associations

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

Myoglobinuria, acute recurrent, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Gene Set

From ClinVar Gene-Phenotype Associations

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

Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Spinocerebellar ataxia autosomal recessive 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Parkinson disease 6, autosomal recessive early-onset Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Cataract, autosomal recessive congenital 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Amyotrophic lateral sclerosis 1, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Severe congenital neutropenia 3, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Hydrocephalus, nonsyndromic, autosomal recessive 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Renal tubular acidosis, distal, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Spastic paraplegia 54, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Ataxia, spastic, 4, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Microcephaly 10, primary, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Heterotopia, periventricular, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Persistent hyperplastic primary vitreous, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant Gene Set

From ClinVar Gene-Phenotype Associations

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

Spastic paraplegia 11, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Spastic paraplegia 57, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Spinocerebellar ataxia, autosomal recessive 7 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 102 Gene Set

From ClinVar Gene-Phenotype Associations

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

Spastic paraplegia 72, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Segawa syndrome, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Myopia 23, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Klippel-Feil syndrome 2, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 8 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 9 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 7 Gene Set

From ClinVar Gene-Phenotype Associations

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

Spinocerebellar ataxia, autosomal recessive 15 Gene Set

From ClinVar Gene-Phenotype Associations

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

Spinocerebellar ataxia, autosomal recessive 12 Gene Set

From ClinVar Gene-Phenotype Associations

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

Spinocerebellar ataxia, autosomal recessive 11 Gene Set

From ClinVar Gene-Phenotype Associations

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

Spinocerebellar ataxia, autosomal recessive 10 Gene Set

From ClinVar Gene-Phenotype Associations

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

Spastic paraplegia 44, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Spastic ataxia 5, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Indifference to pain, congenital, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Retinal degeneration, autosomal recessive, clumped pigment type Gene Set

From ClinVar Gene-Phenotype Associations

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

Amyotrophic lateral sclerosis 6, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Epidermolysis bullosa simplex, autosomal recessive 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 18b Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Spastic paraplegia 55, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive congenital ichthyosis 9 Gene Set

From ClinVar Gene-Phenotype Associations

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

Sick sinus syndrome 1, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

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.

Nemaline myopathy 2, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Congenital myotonia, autosomal recessive form Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 91 Gene Set

From ClinVar Gene-Phenotype Associations

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

Severe congenital neutropenia 6, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 84b Gene Set

From ClinVar Gene-Phenotype Associations

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

Cataract, congenital nuclear, autosomal recessive 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Cataract, congenital nuclear, autosomal recessive 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Polymicrogyria, bilateral perisylvian, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Spinocerebellar ataxia autosomal recessive with axonal neuropathy Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive Dejerine-Sottas syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Glut1 deficiency syndrome 1, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 86 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 81 Gene Set

From ClinVar Gene-Phenotype Associations

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

Oculodentodigital dysplasia, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 89 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 88 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 48 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Monocyte and dendritic cell deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Spinocerebellar ataxia, autosomal recessive 14 Gene Set

From ClinVar Gene-Phenotype Associations

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

Spinocerebellar ataxia, autosomal recessive 9 Gene Set

From ClinVar Gene-Phenotype Associations

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

Spinocerebellar ataxia, autosomal recessive 8 Gene Set

From ClinVar Gene-Phenotype Associations

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

Pseudohypoaldosteronism type 1 autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

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.

Deafness, autosomal recessive 53 Gene Set

From ClinVar Gene-Phenotype Associations

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

Spastic paraplegia 30, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Epidermolysis bullosa dystrophica inversa, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Microcephaly and chorioretinopathy, autosomal recessive, 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Dyskeratosis congenita, autosomal recessive, 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Agammaglobulinemia 6, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Agammaglobulinemia 7, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Ataxia, spastic, 2, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Spinocerebellar ataxia autosomal recessive 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 42 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 44 Gene Set

From ClinVar Gene-Phenotype Associations

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

Severe congenital neutropenia 4, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Spastic paraplegia 45, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 31 Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Osteopetrosis autosomal recessive 7 Gene Set

From ClinVar Gene-Phenotype Associations

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

Osteopetrosis autosomal recessive 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

Osteopetrosis autosomal recessive 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Osteopetrosis autosomal recessive 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Osteopetrosis autosomal recessive 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 76 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 77 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 74 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 70 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 79 Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive cutis laxa type 2B Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive cutis laxa type IA Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive centronuclear myopathy Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive congenital ichthyosis 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive congenital ichthyosis 6 Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive congenital ichthyosis 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive congenital ichthyosis 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive congenital ichthyosis 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 18 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 61 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 63 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 67 Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive congenital ichthyosis 4A Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive congenital ichthyosis 4B Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal recessive cutis laxa type 3B Gene Set

From ClinVar Gene-Phenotype Associations

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

Microcephaly 11, primary, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Microcephaly with chorioretinopathy, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Robinow syndrome, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance Gene Set

From ClinVar Gene-Phenotype Associations

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

Bestrophinopathy, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Microcephaly 9, primary, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Distal spinal muscular atrophy, autosomal recessive 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

Hypophosphatemic rickets, autosomal recessive, 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 15 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 16 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 12 Gene Set

From ClinVar Gene-Phenotype Associations

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

Microcephaly 13, primary, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal recessive 1A Gene Set

From ClinVar Gene-Phenotype Associations

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

Spastic paraplegia 20, autosomal recessive Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 1b Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 32 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 1A Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 14 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 16 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 17 Gene Set

From CTD Gene-Disease Associations

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

Spastic Paraplegia 32, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

Osteopetrosis, Autosomal Recessive 1 Gene Set

From CTD Gene-Disease Associations

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

Osteopetrosis, Autosomal Recessive 7 Gene Set

From CTD Gene-Disease Associations

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

Osteopetrosis, Autosomal Recessive 5 Gene Set

From CTD Gene-Disease Associations

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

Osteopetrosis, Autosomal Recessive 4 Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 Gene Set

From CTD Gene-Disease Associations

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

Heterotopia, Periventricular, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 Gene Set

From CTD Gene-Disease Associations

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

Amyotrophic Lateral Sclerosis 6, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 67 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 13 Gene Set

From CTD Gene-Disease Associations

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

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.

DEAFNESS, AUTOSOMAL RECESSIVE 91 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 77 Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

DEAFNESS, AUTOSOMAL RECESSIVE 85 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 79 Gene Set

From CTD Gene-Disease Associations

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

Osteopetrosis, Autosomal Recessive 6 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 33 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 31 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 37 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 35 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 38 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Recessive 39 Gene Set