Name

SPPM Gene

scapuloperoneal syndrome, myopathic type

CMTX3 Gene

Charcot-Marie-Tooth neuropathy, X-linked 3 (dominant)

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

ID2B Gene

inhibitor of DNA binding 2B, dominant negative helix-loop-helix protein (pseudogene)

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

CMTDIA Gene

Charcot-Marie-Tooth disease, dominant intermediate 2

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)

ID4 Gene

inhibitor of DNA binding 4, dominant negative helix-loop-helix protein

This gene encodes a member of the inhibitor of DNA binding (ID) protein family. These proteins are basic helix-loop-helix transcription factors which can act as tumor suppressors but lack DNA binding activity. Consequently, the activity of the encoded protein depends on the protein binding partner. [provided by RefSeq, Dec 2011]

ID2 Gene

inhibitor of DNA binding 2, dominant negative helix-loop-helix protein

The protein encoded by this gene belongs to the inhibitor of DNA binding family, members of which are transcriptional regulators that contain a helix-loop-helix (HLH) domain but not a basic domain. Members of the inhibitor of DNA binding family inhibit the functions of basic helix-loop-helix transcription factors in a dominant-negative manner by suppressing their heterodimerization partners through the HLH domains. This protein may play a role in negatively regulating cell differentiation. A pseudogene of this gene is located on chromosome 3. [provided by RefSeq, Aug 2011]

ID3 Gene

inhibitor of DNA binding 3, dominant negative helix-loop-helix protein

The protein encoded by this gene is a helix-loop-helix (HLH) protein that can form heterodimers with other HLH proteins. However, the encoded protein lacks a basic DNA-binding domain and therefore inhibits the DNA binding of any HLH protein with which it interacts. [provided by RefSeq, Aug 2011]

ID1 Gene

inhibitor of DNA binding 1, dominant negative helix-loop-helix protein

The protein encoded by this gene is a helix-loop-helix (HLH) protein that can form heterodimers with members of the basic HLH family of transcription factors. The encoded protein has no DNA binding activity and therefore can inhibit the DNA binding and transcriptional activation ability of basic HLH proteins with which it interacts. This protein may play a role in cell growth, senescence, and differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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)

NUDT19P5 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 19 pseudogene 5

TTTY25P Gene

testis-specific transcript, Y-linked 25, pseudogene

NUDT19P1 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 19 pseudogene 1

NUDT19P3 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 19 pseudogene 3

ZNF736P3Y Gene

zinc finger protein 736 pseudogene 3, Y-linked

BEX5 Gene

brain expressed, X-linked 5

BEX4 Gene

brain expressed, X-linked 4

This gene is a member of the brain expressed X-linked gene family. The proteins encoded by some of the other members of this family act as transcription elongation factors which allow RNA polymerase II to escape pausing during elongation. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2011]

BEX2 Gene

brain expressed X-linked 2

This gene belongs to the brain expressed X-linked gene family. The encoded protein interacts with the transcription factor LIM domain only 2 in a DNA-binding complex that recognizes the E-box element and promotes transcription. This gene has been found to be a tumor suppressor that is silenced in human glioma. In breast cancer cells, this gene product modulates apoptosis in response to estrogen and tamoxifen, and enhances the anti-proliferative effect of tamoxifen. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]

BEX1 Gene

brain expressed, X-linked 1

TSPY8 Gene

testis specific protein, Y-linked 8

TSPY2 Gene

testis specific protein, Y-linked 2

TSPY1 Gene

testis specific protein, Y-linked 1

The protein encoded by this gene is found only in testicular tissue and may be involved in spermatogenesis. Approximately 35 copies of this gene are present in humans, but only a single, nonfunctional orthologous gene is found in mouse. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]

HSFX2 Gene

heat shock transcription factor family, X linked 2

EMWX Gene

episodic muscle weakness, X-linked

RBMY2JP Gene

RNA binding motif protein, Y-linked, family 2, member J pseudogene

UTY Gene

ubiquitously transcribed tetratricopeptide repeat containing, Y-linked

This gene encodes a protein containing tetratricopeptide repeats which are thought to be involved in protein-protein interactions. The encoded protein is also a minor histocompatibility antigen which may induce graft rejection of male stem cell grafts. A large number of alternatively spliced transcripts have been observed for this gene, but the full length nature of some of these variants has not been determined. [provided by RefSeq, Apr 2012]

NUDT19P4 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 19 pseudogene 4

OFD1P8Y Gene

OFD1 pseudogene 8, Y-linked

GRDX Gene

Graves disease, susceptibility to, X-linked

RBMY1HP Gene

RNA binding motif protein, Y-linked, family 1, member H, pseudogene

USP9X Gene

ubiquitin specific peptidase 9, X-linked

This gene is a member of the peptidase C19 family and encodes a protein that is similar to ubiquitin-specific proteases. Though this gene is located on the X chromosome, it escapes X-inactivation. Mutations in this gene have been associated with Turner syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

USP9Y Gene

ubiquitin specific peptidase 9, Y-linked

This gene is a member of the peptidase C19 family. It encodes a protein that is similar to ubiquitin-specific proteases, which cleave the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. [provided by RefSeq, Mar 2009]

HPCX Gene

hereditary prostate cancer, X-linked

USP9YP34 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 34

USP9YP30 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 30

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

TSPY18P Gene

testis specific protein, Y-linked 18, pseudogene

NLGN4Y Gene

neuroligin 4, Y-linked

This gene encodes a type I membrane protein that belongs to the family of neuroligins, which are cell adhesion molecules present at the postsynaptic side of the synapse, and may be essential for the formation of functional synapses. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Mar 2011]

NLGN4X Gene

neuroligin 4, X-linked

This gene encodes a member of the type-B carboxylesterase/lipase protein family. The encoded protein belongs to a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. The encoded protein interacts with discs large homolog 4 (DLG4). Mutations in this gene have been associated with autism and Asperger syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

TSPY23P Gene

testis specific protein, Y-linked 23, pseudogene

OFD1P18Y Gene

OFD1 pseudogene 18, Y-linked

RP34 Gene

retinitis pigmentosa 34 (X-linked recessive)

CDY10P Gene

chromodomain protein, Y-linked 10 pseudogene

RBMY2GP Gene

RNA binding motif protein, Y-linked, family 2, member G pseudogene

TRIM60P7Y Gene

tripartite motif containing 60 pseudogene 7, Y-linked

TTTY13B Gene

testis-specific transcript, Y-linked 13B

MRX92 Gene

Mental retardation, X-linked 92

MRX95 Gene

Mental retardation, X-linked 95

TSPY4 Gene

testis specific protein, Y-linked 4

TSPY3 Gene

testis specific protein, Y-linked 3

RPS4Y2 Gene

ribosomal protein S4, Y-linked 2

The protein encoded by this gene is a ribosomal protein that is highly similar to RPS4Y1. This gene is located in the male-specific region of the Y chromosome. [provided by RefSeq, Aug 2012]

RPS4Y1 Gene

ribosomal protein S4, Y-linked 1

Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes ribosomal protein S4, a component of the 40S subunit. Ribosomal protein S4 is the only ribosomal protein known to be encoded by more than one gene, namely this gene and ribosomal protein S4, X-linked (RPS4X). The 2 isoforms encoded by these genes are not identical, but are functionally equivalent. Ribosomal protein S4 belongs to the S4E family of ribosomal proteins. It has been suggested that haploinsufficiency of the ribosomal protein S4 genes plays a role in Turner syndrome; however, this hypothesis is controversial. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]

RNF19BPX Gene

ring finger protein 19B pseudogene, X-linked

RNF19BPY Gene

ring finger protein 19B pseudogene, Y-linked

TTTY28P Gene

testis-specific transcript, Y-linked 28, pseudogene

DELYQ11 Gene

Sertoli cell-only syndrome, Y-linked

SPANXA1 Gene

sperm protein associated with the nucleus, X-linked, family member A1

Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene maps to chromosome X in a head-to-head orientation with SPANX family member A2, which appears to be a duplication of the A1 locus. The protein encoded by this gene targets to the nucleus where it associates with nuclear vacuoles and the redundant nuclear envelope. Based on its association with these poorly characterized regions of the sperm nucleus, this protein provides a biochemical marker to study unique structures in spermatazoa while attempting to further define its role in spermatogenesis. [provided by RefSeq, Jul 2008]

OFD1P10Y Gene

OFD1 pseudogene 10, Y-linked

HSFX1 Gene

heat shock transcription factor family, X linked 1

TSPY17P Gene

testis specific protein, Y-linked 17, pseudogene

CDY18P Gene

chromodomain protein, Y-linked 18 pseudogene

ALG1L7P Gene

asparagine-linked glycosylation 1-like 7, pseudogene

FAM199YP Gene

family with sequence similarity 199, Y-linked, pseudogene

RBMY2OP Gene

RNA binding motif protein, Y-linked, family 2, member O pseudogene

ZNF736P7Y Gene

zinc finger protein 736 pseudogene 7, Y-linked

CDY5P Gene

chromodomain protein, Y-linked 5 pseudogene

BPY2B Gene

basic charge, Y-linked, 2B

This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. The encoded protein interacts with ubiquitin protein ligase E3A and may be involved in male germ cell development and male infertility. Three nearly identical copies of this gene exist on chromosome Y; two copies are part of a palindromic region. This record represents the more centromeric copy within the palindrome. [provided by RefSeq, Jul 2008]

BPY2C Gene

basic charge, Y-linked, 2C

This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. The encoded protein interacts with ubiquitin protein ligase E3A and may be involved in male germ cell development and male infertility. Three nearly identical copies of this gene exist on chromosome Y; two copies are part of a palindromic region. This record represents the more telomeric copy within the palindrome. [provided by RefSeq, Jul 2008]

ZNF736P4Y Gene

zinc finger protein 736 pseudogene 4, Y-linked

ZNF736P12Y Gene

zinc finger protein 736 pseudogene 12, Y-linked

RBMY1J Gene

RNA binding motif protein, Y-linked, family 1, member J

This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. [provided by RefSeq, Jul 2008]

UBE2Q2P4Y Gene

ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 4, Y-linked

OGT Gene

O-linked N-acetylglucosamine (GlcNAc) transferase

This gene encodes a glycosyltransferase that catalyzes the addition of a single N-acetylglucosamine in O-glycosidic linkage to serine or threonine residues. Since both phosphorylation and glycosylation compete for similar serine or threonine residues, the two processes may compete for sites, or they may alter the substrate specificity of nearby sites by steric or electrostatic effects. The protein contains multiple tetratricopeptide repeats that are required for optimal recognition of substrates. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

XK Gene

X-linked Kx blood group

This locus controls the synthesis of the Kell blood group 'precursor substance' (Kx). Mutations in this gene have been associated with McLeod syndrome, an X-linked, recessive disorder characterized by abnormalities in the neuromuscular and hematopoietic systems. The encoded protein has structural characteristics of prokaryotic and eukaryotic membrane transport proteins. [provided by RefSeq, Jul 2008]

XS Gene

X-linked suppressor of LU antigens

An X-linked recessive inhibitor (XS) of the Lutheran blood group system (MIM 111200) has been reported. For a discussion of Lutheran blood group phenotypes, see MIM 247420.[supplied by OMIM, Jun 2009]

CDY1 Gene

chromodomain protein, Y-linked, 1

This gene encodes a protein containing a chromodomain and a histone acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as gene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thought to facilitate the transition in which protamines replace histones as the major DNA-packaging protein. The human chromosome Y has two identical copies of this gene within a palindromic region; this record represents the more telomeric copy. Chromosome Y also contains a pair of closely related genes in another more telomeric palindrome as well as several related pseudogenes. Two protein isoforms are encoded by transcript variants of this gene. Additional transcript variants have been described, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]

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]

TMSB4X Gene

thymosin beta 4, X-linked

This gene encodes an actin sequestering protein which plays a role in regulation of actin polymerization. The protein is also involved in cell proliferation, migration, and differentiation. This gene escapes X inactivation and has a homolog on chromosome Y. [provided by RefSeq, Jul 2008]

TMSB4Y Gene

thymosin beta 4, Y-linked

This gene lies within the male specific region of chromosome Y. Its homolog on chromosome X escapes X inactivation and encodes an actin sequestering protein. [provided by RefSeq, Jul 2008]

RBMY2WP Gene

RNA binding motif protein, Y-linked, family 2, member W pseudogene

PPP1R12BP1 Gene

protein phosphatase 1, regulatory subunit 12B pseudogene, Y-linked 1

PPP1R12BP2 Gene

protein phosphatase 1, regulatory subunit 12B Y-linked pseudogene 2

UBE2Q2P5Y Gene

ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 5, Y-linked

OFD1P5Y Gene

OFD1 pseudogene 5, Y-linked

CFTDX Gene

Myopathy, congenital, with fiber-type disproportion, X-linked

TCP11X1 Gene

t-complex 11 family, X-linked 1

TCP11X2 Gene

t-complex 11 family, X-linked 2

MRX42 Gene

mental retardation, X-linked 42

MRX40 Gene

mental retardation, X-linked 40

MRX49 Gene

mental retardation, X-linked 49

PRYP2 Gene

PTPN13-like, Y-linked pseudogene 2

PRYP3 Gene

PTPN13-like, Y-linked pseudogene 3

PRYP1 Gene

PTPN13-like, Y-linked pseudogene 1

PRYP4 Gene

PTPN13-like, Y-linked pseudogene 4

TSPY20P Gene

testis specific protein, Y-linked 20, pseudogene

TTTY3B Gene

testis-specific transcript, Y-linked 3B (non-protein coding)

There are two copies of this gene within the P1 palindrome on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008]

USP9YP3 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 3

USP9YP5 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 5

USP9YP4 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 4

USP9YP1 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 1

USP9YP2 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 2

TTTY17A Gene

testis-specific transcript, Y-linked 17A (non-protein coding)

There are three copies of this gene on chromosome Y. This record represents the most centromeric copy. [provided by RefSeq, Jul 2008]

TTTY17B Gene

testis-specific transcript, Y-linked 17B (non-protein coding)

There are three copies of this gene on chromosome Y. This record represents the middle copy, which is within the P1 palindrome. [provided by RefSeq, Jul 2008]

TTTY17C Gene

testis-specific transcript, Y-linked 17C (non-protein coding)

There are three copies of this gene on chromosome Y. This record represents the most telomeric copy, which is within the P1 palindrome. [provided by RefSeq, Jul 2008]

RBMY1GP Gene

RNA binding motif protein, Y-linked, family 1, member G, pseudogene

RBMY2DP Gene

RNA binding motif protein, Y-linked, family 2, member D pseudogene

NUDT4P2 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 4 pseudogene 2

NUDT4P1 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 4 pseudogene 1

NUDT15P1 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 15 pseudogene 1

CSPG4P2Y Gene

chondroitin sulfate proteoglycan 4 pseudogene 2, Y-linked

There are two copies of this pseudogene within the P1 palindrome on chromosome Y. This record represents the more centromeric copy. This gene is identical to the transcribed locus CSPG4P1Y, GeneID 114758, but is represented as non-transcribed because there is no representative transcript available in a public sequence database. [provided by RefSeq, Feb 2011]

CMTX2 Gene

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

NUDT16 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 16

NAALADL2 Gene

N-acetylated alpha-linked acidic dipeptidase-like 2

NAALADL1 Gene

N-acetylated alpha-linked acidic dipeptidase-like 1

TSPY12P Gene

testis specific protein, Y-linked 12, pseudogene

TRIM60P2Y Gene

tripartite motif containing 60 pseudogene 2, Y-linked

CDY17P Gene

chromodomain protein, Y-linked 17 pseudogene

BPY2DP Gene

basic charge, Y-linked, 2D, pseudogene

DFN5 Gene

deafness, X-linked 5

DFN8 Gene

deafness, X-linked 8

RBMXL1 Gene

RNA binding motif protein, X-linked-like 1

This gene represents a retrogene of RNA binding motif protein, X-linked (RBMX), which is located on chromosome X. While all introns in the coding sequence have been processed out compared to the RBMX locus, the ORF is intact and there is specific evidence for transcription at this location. The preservation of the ORF by purifying selection in all Old World monkeys carrying it suggests that this locus is likely to be functional, possibly during male meiosis when X chromosomal genes are silenced or during haploid stages of spermatogenesis. This gene shares 5' exon structure with the cysteine conjugate-beta lyase 2 locus on chromosome 1, but the coding sequences are non-overlapping. Alternative splicing results in two transcript variants. [provided by RefSeq, Jun 2009]

RBMXL3 Gene

RNA binding motif protein, X-linked-like 3

RBMXL2 Gene

RNA binding motif protein, X-linked-like 2

This gene belongs to the HNRPG subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two RRM domains that bind RNAs. This gene is intronless and is thought to be derived from a processed retroposon. However, unlike many retroposon-derived genes, this gene is not a pseudogene. The encoded protein has similarity to HNRPG and RBMY proteins and it is suggested to replace HNRPG protein function during meiotic prophase or act as a germ cell-specific splicing regulator. It primarily localizes to the nuclei of meiotic spermatocytes. This gene is a candidate for autosomal male infertility. [provided by RefSeq, Jul 2008]

NUDT9P1 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 9 pseudogene 1

TTTY23B Gene

testis-specific transcript, Y-linked 23B (non-protein coding)

ZNF736P1Y Gene

zinc finger protein 736 pseudogene 1, Y-linked

ZNF736P11Y Gene

zinc finger protein 736 pseudogene 11, Y-linked

SPG16 Gene

spastic paraplegia 16 (complicated, X-linked recessive)

FAM197Y2 Gene

family with sequence similarity 197, Y-linked, member 2, pseudogene

FAM197Y1 Gene

family with sequence similarity 197, Y-linked, member 1

FAM197Y5 Gene

family with sequence similarity 197, Y-linked, member 5, pseudogene

FAM197Y8 Gene

family with sequence similarity 197, Y-linked, member 8

FAM197Y9 Gene

family with sequence similarity 197, Y-linked, member 9

RBMY2TP Gene

RNA binding motif protein, Y-linked, family 2, member T pseudogene

GOLGA2P3Y Gene

golgin A2 pseudogene 3, Y-linked

There are two copies of this pseudogene within the P1 palindrome on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008]

OFD1P6Y Gene

OFD1 pseudogene 6, Y-linked

TTTY6B Gene

testis-specific transcript, Y-linked 6B (non-protein coding)

There are two copies of this locus in the P3 palindrome on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008]

SNX18P1Y Gene

sorting nexin 18 pseudogene 1, Y-linked

INDX Gene

Immunoneurologic syndrome X-linked, of Wood, Black, and Norbury

CDY20P Gene

chromodomain protein, Y-linked 20 pseudogene

USP9YP11 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 11

USP9YP10 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 10

USP9YP13 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 13

USP9YP12 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 12

FAM41AY1 Gene

family with sequence similarity 41, member A, Y-linked 1

FAM41AY2 Gene

family with sequence similarity 41, member A, Y-linked 2

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

TXLNGY Gene

taxilin gamma pseudogene, Y-linked

ZXDB Gene

zinc finger, X-linked, duplicated B

The ZXDB gene is one of a pair of duplicated zinc finger genes on chromosome Xp11.21 (Greig et al., 1993 [PubMed 8268913]); see also ZXDA (MIM 300235).[supplied by OMIM, Jul 2010]

ZXDA Gene

zinc finger, X-linked, duplicated A

This gene encodes one of two duplicated zinc finger genes on chromosome Xp11. This gene is the telomeric copy; GeneID 158586 ZXDB is the more centromeric copy. The two genes have 98% nucleotide sequence similarity, and the predicted proteins contain 10 tandem zinc finger motifs. [provided by RefSeq, Nov 2009]

TRIM60P6Y Gene

tripartite motif containing 60 pseudogene 6, Y-linked

TSPY25P Gene

testis specific protein, Y-linked 25, pseudogene

XKRYP6 Gene

XK, Kell blood group complex subunit-related, Y-linked pseudogene 6

XKRYP4 Gene

XK, Kell blood group complex subunit-related, Y-linked pseudogene 4

XKRYP5 Gene

XK, Kell blood group complex subunit-related, Y-linked pseudogene 5

XKRYP2 Gene

XK, Kell blood group complex subunit-related, Y-linked pseudogene 2

XKRYP3 Gene

XK, Kell blood group complex subunit-related, Y-linked pseudogene 3

XKRYP1 Gene

XK, Kell blood group complex subunit-related, Y-linked pseudogene 1

LOC101060346 Gene

T-complex protein 11 X-linked protein 2-like

ARMCX6 Gene

armadillo repeat containing, X-linked 6

ARMCX5 Gene

armadillo repeat containing, X-linked 5

ARMCX4 Gene

armadillo repeat containing, X-linked 4

The product of this gene belongs to the armadillo repeat-containing family of proteins, which interact with other proteins in a variety of cellular processes. The function of this family member is currently unknown. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]

ARMCX3 Gene

armadillo repeat containing, X-linked 3

This gene encodes a member of the ALEX family of proteins which may play a role in tumor suppression. The encoded protein contains a potential N-terminal transmembrane domain and a single Armadillo (arm) repeat. Other proteins containing the arm repeat are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is closely localized with other family members on the X chromosome. Three transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]

ARMCX2 Gene

armadillo repeat containing, X-linked 2

This gene encodes a protein containing a potential N-terminal transmembrane domain and multiple armadillo (arm) repeats. Proteins containing arm repeats are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is located in a cluster of related genes on chromosome X. There is a pseudogene for this gene on chromosome 7. Alternative splicing in the 5' UTR results in multiple transcript variants encoding the same protein. [provided by RefSeq, Aug 2013]

ARMCX1 Gene

armadillo repeat containing, X-linked 1

This gene encodes a member of the ALEX family of proteins and may play a role in tumor suppression. The encoded protein contains a potential N-terminal transmembrane domain and two Armadillo (arm) repeats. Other proteins containing the arm repeat are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is closely localized with other family members, including ALEX2 and ALEX3, on the X chromosome. [provided by RefSeq, Jul 2008]

TSPY11P Gene

testis specific protein, Y-linked 11, pseudogene

TBL1YP1 Gene

transducin (beta)-like 1, Y-linked pseudogene 1

CDY12P Gene

chromodomain protein, Y-linked 12 pseudogene

DFNX3 Gene

deafness, X-linked 3

XIAP Gene

X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase

This gene encodes a protein that belongs to a family of apoptotic suppressor proteins. Members of this family share a conserved motif termed, baculovirus IAP repeat, which is necessary for their anti-apoptotic function. This protein functions through binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2 and inhibits apoptosis induced by menadione, a potent inducer of free radicals, and interleukin 1-beta converting enzyme. This protein also inhibits at least two members of the caspase family of cell-death proteases, caspase-3 and caspase-7. Mutations in this gene are the cause of X-linked lymphoproliferative syndrome. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 2 and 11.[provided by RefSeq, Feb 2011]

RBMY2AP Gene

RNA binding motif protein, Y-linked, family 2, member A pseudogene

PRORY Gene

proline rich, Y-linked

ALG1L5P Gene

asparagine-linked glycosylation 1-like 5, pseudogene

TTTY26P Gene

testis-specific transcript, Y-linked 26, pseudogene

CDY3P Gene

chromodomain protein, Y-linked 3 pseudogene

ZNF736P2Y Gene

zinc finger protein 736 pseudogene 2, Y-linked

TTTY2 Gene

testis-specific transcript, Y-linked 2 (non-protein coding)

TTTY3 Gene

testis-specific transcript, Y-linked 3 (non-protein coding)

There are two copies of this gene within the P1 palindrome on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008]

TTTY1 Gene

testis-specific transcript, Y-linked 1 (non-protein coding)

TTTY6 Gene

testis-specific transcript, Y-linked 6 (non-protein coding)

There are two copies of this locus in the P3 palindrome on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008]

TTTY7 Gene

testis-specific transcript, Y-linked 7 (non-protein coding)

TTTY4 Gene

testis-specific transcript, Y-linked 4 (non-protein coding)

There are three copies of this gene on chromosome Y. This record represents the most centromeric copy. [provided by RefSeq, Jul 2008]

TTTY5 Gene

testis-specific transcript, Y-linked 5 (non-protein coding)

There is a single copy of this gene on chromosome Y at the center of the P3 palindrome. [provided by RefSeq, Jul 2008]

TTTY8 Gene

testis-specific transcript, Y-linked 8 (non-protein coding)

OFD1P12Y Gene

OFD1 pseudogene 12, Y-linked

TSPY19P Gene

testis specific protein, Y-linked 19, pseudogene

LOC100288788 Gene

RNA binding motif protein, X-linked-like 3 pseudogene

HYSP4 Gene

Hypospadias 4, X-linked, susceptibilty to

HSFY1 Gene

heat shock transcription factor, Y-linked 1

This gene encodes a member of the heat shock factor (HSF) family of transcriptional activators for heat shock proteins. This gene is a candidate gene for azoospermia, since it localizes to a region of chromosome Y that is sometimes deleted in infertile males. The genome has two identical copies of this gene within a palindromic region; this record represents the more centromeric copy. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

HSFY2 Gene

heat shock transcription factor, Y linked 2

This gene encodes a member of the heat shock factor (HSF) family of transcriptional activators for heat shock proteins. This gene is a candidate gene for azoospermia, since it localizes to a region of chromosome Y that is sometimes deleted in infertile males. The genome has two identical copies of this gene within a palindromic region; this record represents the more telomeric copy. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

PABY Gene

pseudoautosomal boundary region, Y-linked

PABX Gene

pseudoautosomal boundary region, X-linked

TRIM60P5Y Gene

tripartite motif containing 60 pseudogene 5, Y-linked

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)

MRXS17 Gene

Mental retardation, X-linked, syndromic 17

MRXS12 Gene

Mental retardation, X-linked, syndromic 12

MRXS11 Gene

mental retardation, X-linked, syndromic 11

HEY Gene

hairy ears, Y-linked

TSPY9P Gene

testis specific protein, Y-linked 9, pseudogene

NUDT22 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 22

NUDT21 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 21

The protein encoded by this gene is one subunit of a cleavage factor required for 3' RNA cleavage and polyadenylation processing. The interaction of the protein with the RNA is one of the earliest steps in the assembly of the 3' end processing complex and facilitates the recruitment of other processing factors. This gene encodes the 25kD subunit of the protein complex, which is composed of four polypeptides. [provided by RefSeq, Jul 2008]

LOC100652931 Gene

RNA binding motif protein, Y-linked, family 1, member A1 pseudogene

USP9YP22 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 22

USP9YP23 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 23

RBMY2QP Gene

RNA binding motif protein, Y-linked, family 2, member Q pseudogene

OFD1P3Y Gene

OFD1 pseudogene 3, Y-linked

HSFY3P Gene

heat shock transcription factor, Y-linked 3, pseudogene

AUNX1 Gene

auditory neuropathy, X-linked recessive 1

MXRA5Y Gene

matrix-remodelling associated 5, Y-linked, 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

AGMX2 Gene

agammaglobulinemia, X-linked 2 (with growth hormone deficiency)

ZFX Gene

zinc finger protein, X-linked

This gene on the X chromosome is structurally similar to a related gene on the Y chromosome. It encodes a member of the krueppel C2H2-type zinc-finger protein family. The full-length protein contains an acidic transcriptional activation domain (AD), a nuclear localization sequence (NLS) and a DNA binding domain (DBD) consisting of 13 C2H2-type zinc fingers. Studies in mouse embryonic and adult hematopoietic stem cells showed that this gene was required as a transcriptional regulator for self-renewal of both stem cell types, but it was dispensable for growth and differentiation of their progeny. Multiple alternatively spliced transcript variants encoding different isoforms have been identified, but the full-length nature of some variants has not been determined. [provided by RefSeq, May 2010]

FAM199X Gene

family with sequence similarity 199, X-linked

S12 Gene

surface antigen (X-linked) 3

S11 Gene

surface antigen (X-linked) 2

TSPY10 Gene

testis specific protein, Y-linked 10

TSPY22P Gene

testis specific protein, Y-linked 22, pseudogene

TTTY14 Gene

testis-specific transcript, Y-linked 14 (non-protein coding)

TTTY15 Gene

testis-specific transcript, Y-linked 15 (non-protein coding)

TTTY16 Gene

testis-specific transcript, Y-linked 16 (non-protein coding)

TTTY10 Gene

testis-specific transcript, Y-linked 10 (non-protein coding)

TTTY11 Gene

testis-specific transcript, Y-linked 11 (non-protein coding)

TTTY12 Gene

testis-specific transcript, Y-linked 12 (non-protein coding)

TTTY13 Gene

testis-specific transcript, Y-linked 13 (non-protein coding)

TTTY18 Gene

testis-specific transcript, Y-linked 18 (non-protein coding)

TTTY19 Gene

testis-specific transcript, Y-linked 19 (non-protein coding)

TTTY1B Gene

testis-specific transcript, Y-linked 1B (non-protein coding)

DHRSX Gene

dehydrogenase/reductase (SDR family) X-linked

AMELX Gene

amelogenin, X-linked

This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in this gene cause X-linked amelogenesis imperfecta. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

AMELY Gene

amelogenin, Y-linked

This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in a related gene on chromosome X cause X-linked amelogenesis imperfecta. [provided by RefSeq, Jul 2008]

RP24 Gene

retinitis pigmentosa 24 (X-linked recessive)

PRKY Gene

protein kinase, Y-linked, pseudogene

This gene is similar to the protein kinase, X-linked gene in the pseudoautosomal region of the X chromosome. The gene is classified as a transcribed pseudogene because it has lost a coding exon that results in all transcripts being candidates for nonsense-mediated decay (NMD) and unlikely to express a protein. Abnormal recombination between this gene and a related gene on chromosome X is a frequent cause of XX males and XY females. [provided by RefSeq, Jul 2010]

PRKX Gene

protein kinase, X-linked

This gene encodes a serine threonine protein kinase that has similarity to the catalytic subunit of cyclic AMP dependent protein kinases. The encoded protein is developmentally regulated and may be involved in renal epithelial morphogenesis. This protein may also be involved in macrophage and granulocyte maturation. Abnormal recombination between this gene and a related pseudogene on chromosome Y is a frequent cause of sex reversal disorder in XX males and XY females. Pseudogenes of this gene are found on chromosomes X, 15 and Y. [provided by RefSeq, Feb 2010]

RBMY1A1 Gene

RNA binding motif protein, Y-linked, family 1, member A1

This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. [provided by RefSeq, Jul 2008]

TRIM60P8Y Gene

tripartite motif containing 60 pseudogene 8, Y-linked

TTTY13C Gene

testis-specific transcript, Y-linked 13C

RBMY2YP Gene

RNA binding motif protein, Y-linked, family 2, member Y pseudogene

CDY11P Gene

chromodomain protein, Y-linked 11 pseudogene

MRXSA Gene

Armfield X-linked mental retardation syndrome

MRXSL Gene

Lubs X-linked mental retardation syndrome

FAM197Y10 Gene

family with sequence similarity 197, Y-linked, member 10

RBMY2FP Gene

RNA binding motif protein, Y-linked, family 2, member F pseudogene

RPY Gene

Retinitis pigmentosa, Y-linked

TMSB4XP3 Gene

thymosin beta 4, X-linked pseudogene 3

TTTY29P Gene

testis-specific transcript, Y-linked 29, pseudogene

COD2 Gene

cone dystrophy 2 (X-linked)

TTTY9A Gene

testis-specific transcript, Y-linked 9A (non-protein coding)

This gene is transcribed but does not appear to encode a protein. Two identical copies of this gene are present in a palindromic region (P4) on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008]

TTTY9B Gene

testis-specific transcript, Y-linked 9B (non-protein coding)

This gene is transcribed but does not appear to encode a protein. Two identical copies of this gene are present in a palindromic region (P4) on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008]

OFD1P11Y Gene

OFD1 pseudogene 11, Y-linked

TSPY14P Gene

testis specific protein, Y-linked 14, pseudogene

RBMY1A3P Gene

RNA binding motif protein, Y-linked, family 1, member A3 pseudogene

CDY19P Gene

chromodomain protein, Y-linked 19 pseudogene

NAALAD2 Gene

N-acetylated alpha-linked acidic dipeptidase 2

This gene is a member of the N-acetylated alpha-linked acidic dipeptidase (NAALADase) gene family. The representative member of this family is the gene encoding human prostate-specific membrane antigen (PSM), which is a marker of prostatic carcinomas and is the first to be shown to possess NAALADase activity. NAALADase cleaves N-acetyl-L-aspartate-L-glutamate (NAAG), which is a neuropeptide expressed both in the central nervous systems and in the periphery and is thought to function as a neurotransmitter. The product of this gene is a type II integral membrane protein. Transient transfection of this gene confers both NAALADase and dipetidyl peptidase IV activities to mammalian cells. This gene is highly expressed in ovary and testis as well as within discrete brain areas. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

LOC100420532 Gene

ribosomal protein S4, Y-linked 2 pseudogene

VCX Gene

variable charge, X-linked

This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22 and Y-linked members are two identical copies of the gene within a palindromic region on Yq11. The family members share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. VCX/Y genes encode small and highly charged proteins of unknown function. The presence of a putative bipartite nuclear localization signal suggests that VCX/Y members are nuclear proteins. This gene contains 10 repeats of the 30-bp unit. [provided by RefSeq, Jul 2008]

VCY Gene

variable charge, Y-linked

The protein encoded by this gene is a member of a family of human VCX/Y genes. This gene family has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. Members of the VCX/Y family share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. VCX/Y genes encode small and highly charged proteins of unknown function. This gene encodes a small, positively charged protein. The presence of a putative bipartite nuclear localization signal suggests that this gene encodes a nuclear protein. The genome has two identical copies of this gene within a palindromic region; this record represents the more centromeric copy. [provided by RefSeq, Jul 2008]

RBMY2NP Gene

RNA binding motif protein, Y-linked, family 2, member N pseudogene

ILKAP Gene

integrin-linked kinase-associated serine/threonine phosphatase

The protein encoded by this gene is a protein serine/threonine phosphatase of the PP2C family. This protein can interact with integrin-linked kinase (ILK/ILK1), a regulator of integrin mediated signaling, and regulate the kinase activity of ILK. Through the interaction with ILK, this protein may selectively affect the signaling process of ILK-mediated glycogen synthase kinase 3 beta (GSK3beta), and thus participate in Wnt signaling pathway. [provided by RefSeq, Jul 2008]

EIF1AX Gene

eukaryotic translation initiation factor 1A, X-linked

This gene encodes an essential eukaryotic translation initiation factor. The protein is required for the binding of the 43S complex (a 40S subunit, eIF2/GTP/Met-tRNAi and eIF3) to the 5' end of capped RNA. [provided by RefSeq, Jul 2008]

EIF1AY Gene

eukaryotic translation initiation factor 1A, Y-linked

This gene is located on the non-recombining region of the Y chromosome. It encodes a protein related to eukaryotic translation initiation factor 1A (EIF1A), which may function in stabilizing the binding of the initiator Met-tRNA to 40S ribosomal subunits. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

PRKXP1 Gene

protein kinase, X-linked, pseudogene 1

PRKXP2 Gene

protein kinase, X-linked, pseudogene 2

ZNF92P1Y Gene

zinc finger protein 92 pseudogene 1, Y-linked

TTTY21B Gene

testis-specific transcript, Y-linked 21B (non-protein coding)

LOC101928917 Gene

heat shock transcription factor, X-linked-like

CDY4P Gene

chromodomain protein, Y-linked 4 pseudogene

RBMY1C Gene

RNA binding motif protein, Y-linked, family 1, member C

RBMY1B Gene

RNA binding motif protein, Y-linked, family 1, member B

This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. [provided by RefSeq, Jul 2008]

RBMY1F Gene

RNA binding motif protein, Y-linked, family 1, member F

This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. [provided by RefSeq, Jul 2008]

RBMY1E Gene

RNA binding motif protein, Y-linked, family 1, member E

This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. [provided by RefSeq, Jul 2008]

RBMY1D Gene

RNA binding motif protein, Y-linked, family 1, member D

This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. [provided by RefSeq, Jul 2008]

LOC100420509 Gene

X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase pseudogene

PHEX Gene

phosphate regulating endopeptidase homolog, X-linked

The protein encoded by this gene is a transmembrane endopeptidase that belongs to the type II integral membrane zinc-dependent endopeptidase family. The protein is thought to be involved in bone and dentin mineralization and renal phosphate reabsorption. Mutations in this gene cause X-linked hypophosphatemic rickets. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

NUDT12 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 12

Nucleotides are involved in numerous biochemical reactions and pathways within the cell as substrates, cofactors, and effectors. Nudix hydrolases, such as NUDT12, regulate the concentrations of individual nucleotides and of nucleotide ratios in response to changing circumstances (Abdelraheim et al., 2003 [PubMed 12790796]).[supplied by OMIM, Mar 2008]

NUDT13 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 13

NUDT10 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 10

This gene is a member of the nudix (nucleoside diphosphate linked moiety X)-type motif containing family. The encoded protein is a phosphohydrolase and may regulate the turnover of diphosphoinositol polyphosphates. The turnover of these high-energy diphosphoinositol polyphosphates represents a molecular switching activity with important regulatory consequences. Molecular switching by diphosphoinositol polyphosphates may contribute to the regulation of intracellular trafficking. In some populations putative prostate cancer susceptibility alleles have been identified for this gene. Alternatively spliced transcript variants, which differ only in the 5' UTR, have been found for this gene. [provided by RefSeq, Feb 2015]

NUDT11 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 11

NUDT11 belongs to a subgroup of phosphohydrolases that preferentially attack diphosphoinositol polyphosphates (Hidaka et al., 2002 [PubMed 12105228]).[supplied by OMIM, Mar 2008]

NUDT17 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 17

NUDT14 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 14

UDP-glucose (UDPG) acts as the sugar donor in numerous glycosylation reactions, including those involved in the production of glycogen. NUDT14 is a UDPG pyrophosphatase (EC 3.6.1.45) that hydrolyzes UDPG to produce glucose 1-phosphate and UMP (Yagi et al., 2003 [PubMed 12429023]).[supplied by OMIM, Mar 2008]

NUDT15 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 15

NUDT18 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 18

The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. This protein contains a Nudix hydrolase domain and hydrolyzes oxidized forms of guanosine and deoxyguanosine diphosphates. [provided by RefSeq, Sep 2012]

NUDT19 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 19

ALG1L8P Gene

asparagine-linked glycosylation 1-like 8, pseudogene

RBMY2VP Gene

RNA binding motif protein, Y-linked, family 2, member V pseudogene

NUDT16L1 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1

OFD1P4Y Gene

OFD1 pseudogene 4, Y-linked

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

BPY2 Gene

basic charge, Y-linked, 2

This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. The encoded protein interacts with ubiquitin protein ligase E3A and may be involved in male germ cell development and male infertility. Three nearly identical copies of this gene exist on chromosome Y; two copies are part of a palindromic region. This record represents the copy outside of the palidromic region. [provided by RefSeq, Jul 2008]

TRIM60P1Y Gene

tripartite motif containing 60 pseudogene 1, Y-linked

TTTY4C Gene

testis-specific transcript, Y-linked 4C (non-protein coding)

There are three copies of this gene on chromosome Y. This record represents the most telomeric copy, which is within the P1 palindrome. [provided by RefSeq, Jul 2008]

TTTY4B Gene

testis-specific transcript, Y-linked 4B (non-protein coding)

There are three copies of this gene on chromosome Y. This record represents the middle copy, which is within the P1 palindrome. [provided by RefSeq, Jul 2008]

CDY6P Gene

chromodomain protein, Y-linked 6 pseudogene

CDY22P Gene

chromodomain protein, Y-linked 22 pseudogene

ALG1L6P Gene

asparagine-linked glycosylation 1-like 6, pseudogene

NUDT15P2 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 15 pseudogene 2

CSPG4P3Y Gene

chondroitin sulfate proteoglycan 4 pseudogene 3, Y-linked

HPCX2 Gene

Prostate cancer, hereditary, X-linked 2

NUDT21P1 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 21 pseudogene 1

RBMX Gene

RNA binding motif protein, X-linked

This gene belongs to the RBMY gene family which includes candidate Y chromosome spermatogenesis genes. This gene, an active X chromosome homolog of the Y chromosome RBMY gene, is widely expressed whereas the RBMY gene evolved a male-specific function in spermatogenesis. Pseudogenes of this gene, found on chromosomes 1, 4, 9, 11, and 6, were likely derived by retrotransposition from the original gene. Alternatively spliced transcript variants encoding different isoforms have been identified. A snoRNA gene (SNORD61) is found in one of its introns. [provided by RefSeq, Sep 2009]

CDY9P Gene

chromodomain protein, Y-linked 9 pseudogene

OFD1P14Y Gene

OFD1 pseudogene 14, Y-linked

USP9YP7 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 7

USP9YP6 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 6

USP9YP9 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 9

USP9YP8 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 8

TSPY13P Gene

testis specific protein, Y-linked 13, pseudogene

CDY23P Gene

chromodomain protein, Y-linked 23 pseudogene

RBMY2CP Gene

RNA binding motif protein, Y-linked, family 2, member C pseudogene

AMCX5 Gene

arthrogryposis, X-linked, type 5

PRS Gene

Prieto X-linked mental retardation syndrome

PRY Gene

PTPN13-like, Y-linked

This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. It encodes a protein which has a low degree of similarity to protein tyrosine phosphatase, non-receptor type 13. Two nearly identical copies of this gene exist within a palindromic region. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008]

TTTY24P Gene

testis-specific transcript, Y-linked 24, pseudogene

NUDT8 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 8

NUDT9 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 9

The protein encoded by this gene belongs to the Nudix hydrolase family. Nudix boxes are found in a family of diverse enzymes that catalyze the hydrolysis of nucleoside diphosphate derivatives. This enzyme is an ADP-ribose pyrophosphatase that catalyzes the hydrolysis of ADP-ribose to AMP and ribose-5-P. It requires divalent metal ions and an intact Nudix motif for enzymatic activity. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

NUDT1 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 1

Misincorporation of oxidized nucleoside triphosphates into DNA/RNA during replication and transcription can cause mutations that may result in carcinogenesis or neurodegeneration. The protein encoded by this gene is an enzyme that hydrolyzes oxidized purine nucleoside triphosphates, such as 8-oxo-dGTP, 8-oxo-dATP, 2-hydroxy-dATP, and 2-hydroxy rATP, to monophosphates, thereby preventing misincorporation. The encoded protein is localized mainly in the cytoplasm, with some in the mitochondria, suggesting that it is involved in the sanitization of nucleotide pools both for nuclear and mitochondrial genomes. Several alternatively spliced transcript variants, some of which encode distinct isoforms, have been identified. Additional variants have been observed, but their full-length natures have not been determined. A single-nucleotide polymorphism that results in the production of an additional, longer isoform (p26) has been described. [provided by RefSeq, Jul 2008]

NUDT2 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 2

This gene encodes a member of the MutT family of nucleotide pyrophosphatases, a subset of the larger NUDIX hydrolase family. The gene product possesses a modification of the MutT sequence motif found in certain nucleotide pyrophosphatases. The enzyme asymmetrically hydrolyzes Ap4A to yield AMP and ATP and is responsible for maintaining the intracellular level of the dinucleotide Ap4A, the function of which has yet to be established. This gene may be a candidate tumor suppressor gene. Alternative splicing has been observed at this locus and four transcript variants, all encoding the same protein, have been identified. [provided by RefSeq, Sep 2011]

NUDT3 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 3

NUDT3 belongs to the MutT, or Nudix, protein family. Nudix proteins act as homeostatic checkpoints at important stages in nucleoside phosphate metabolic pathways, guarding against elevated levels of potentially dangerous intermediates, like 8-oxo-dGTP, which promotes AT-to-CG transversions (Safrany et al., 1998 [PubMed 9822604]).[supplied by OMIM, Feb 2011]

NUDT4 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 4

The protein encoded by this gene regulates the turnover of diphosphoinositol polyphosphates. The turnover of these high-energy diphosphoinositol polyphosphates represents a molecular switching activity with important regulatory consequences. Molecular switching by diphosphoinositol polyphosphates may contribute to regulating intracellular trafficking. Several alternatively spliced transcript variants have been described, but the full-length nature of some variants has not been determined. Isoforms DIPP2alpha and DIPP2beta are distinguishable from each other solely by DIPP2beta possessing one additional amino acid due to intron boundary skidding in alternate splicing. [provided by RefSeq, Jul 2008]

NUDT5 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 5

This gene belongs to the Nudix (nucleoside diphosphate linked moiety X) hydrolase superfamily. The encoded enzyme catalyzes the hydrolysis of modified nucleoside diphosphates, including ADP-ribose (ADPR) and 8-oxoGua-containing 8-oxo-dADP and 8-oxo-dGDP. Protein-bound ADP ribose can be hazardous to the cell because it can modify some amino acid residues, resulting in the inhibition of ATP-activated potassium channels. 8-oxoGua is an oxidized form of guanine that can potentially alter genetic information by pairing with adenine and cytosine in RNA. Presence of 8-oxoGua in RNA results in formation of abnormal proteins due to translational errors. [provided by RefSeq, Aug 2013]

NUDT6 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 6

This gene overlaps and lies on the opposite strand from FGF2 gene, and is thought to be the FGF2 antisense gene. The two genes are independently transcribed, and their expression shows an inverse relationship, suggesting that this antisense transcript may regulate FGF2 expression. This gene has also been shown to have hormone-regulatory and antiproliferative actions in the pituitary that are independent of FGF2 expression. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

NUDT7 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 7

The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

CDY1B Gene

chromodomain protein, Y-linked, 1B

This gene encodes a protein containing a chromodomain and a histone acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as gene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thought to facilitate the transition in which protamines replace histones as the major DNA-packaging protein. The human chromosome Y has two identical copies of this gene within a palindromic region; this record represents the more centromeric copy. Chromosome Y also contains a pair of closely related genes in another more telomeric palindrome as well as several related pseudogenes. Two protein isoforms are encoded by transcript variants of this gene. Additional transcript variants have been described, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]

RBMX2P4 Gene

RNA binding motif protein, X-linked 2 pseudogene 4

RBMX2P5 Gene

RNA binding motif protein, X-linked 2 pseudogene 5

RBMX2P1 Gene

RNA binding motif protein, X-linked 2 pseudogene 1

RBMX2P2 Gene

RNA binding motif protein, X-linked 2 pseudogene 2

RBMX2P3 Gene

RNA binding motif protein, X-linked 2 pseudogene 3

ALG1L15P Gene

asparagine-linked glycosylation 1-like 15, pseudogene

ALG1L12P Gene

asparagine-linked glycosylation 1-like 12, pseudogene

MRX66 Gene

mental retardation, X-linked 66

MRX67 Gene

mental retardation, X-linked 67

RBMY2KP Gene

RNA binding motif protein, Y-linked, family 2, member K pseudogene

GOLGA2P2Y Gene

golgin A2 pseudogene 2, Y-linked

There are two copies of this pseudogene within the P1 palindrome on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008]

OFD1P9Y Gene

OFD1 pseudogene 9, Y-linked

HSFY4P Gene

heat shock transcription factor, Y-linked 4, pseudogene

TGIF2LY Gene

TGFB-induced factor homeobox 2-like, Y-linked

This gene encodes a member of the TALE/TGIF homeobox family of transcription factors. This gene lies within the male specific region of chromosome Y, in a block of sequence that is thought to be the result of a large X-to-Y transposition. The C-terminus of this protein is divergent from that of its chromosome X homolog (TGIF2LX), suggesting that this protein may act as a regulator of TGIF2LX. [provided by RefSeq, Jul 2008]

TGIF2LX Gene

TGFB-induced factor homeobox 2-like, X-linked

This gene encodes a member of the TALE/TGIF homeobox family of transcription factors. Testis-specific expression suggests that this gene may play a role in spermatogenesis. A homolog of this gene lies within the male specific region of chromosome Y, in a block of sequence that is thought to be the result of a large X-to-Y transposition. [provided by RefSeq, Jul 2008]

LOC347674 Gene

armadillo repeat containing, X-linked 2 pseudogene

USP27X Gene

ubiquitin specific peptidase 27, X-linked

ZNF736P8Y Gene

zinc finger protein 736 pseudogene 8, Y-linked

ZFY Gene

zinc finger protein, Y-linked

This gene encodes a zinc finger-containing protein that may function as a transcription factor. This gene was once a candidate gene for the testis-determining factor (TDF) and was erroneously referred to as TDF. [provided by RefSeq, Jul 2008]

CCCSX Gene

Cerebral-cerebellar-coloboma syndrome, X-linked

EIF1AXP1 Gene

eukaryotic translation initiation factor 1A, X-linked pseudogene 1

TTTY7B Gene

testis-specific transcript, Y-linked 7B (non-protein coding)

RBMY1KP Gene

RNA binding motif protein, Y-linked, family 1, member K, pseudogene

RBMY2SP Gene

RNA binding motif protein, Y-linked, family 2, member S pseudogene

CDY14P Gene

chromodomain protein, Y-linked 14 pseudogene

OFD1P1Y Gene

OFD1 pseudogene 1, Y-linked

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)

XGY1 Gene

Xg pseudogene, Y-linked 1

XGY2 Gene

Xg pseudogene, Y-linked 2

FAM197Y3 Gene

family with sequence similarity 197, Y-linked, member 3

ALG1L14P Gene

asparagine-linked glycosylation 1-like 14, pseudogene

TSPY7P Gene

testis specific protein, Y-linked 7, pseudogene

ALG1L3P Gene

asparagine-linked glycosylation 1-like 3, pseudogene

TSPY24P Gene

testis specific protein, Y-linked 24, pseudogene

XKRY2 Gene

XK, Kell blood group complex subunit-related, Y-linked 2

This gene is located in the nonrecombining portion of the Y chromosome, and is expressed specifically in testis. It encodes a protein which is similar to XK (X-linked Kell blood group precursor), a putative membrane transport protein. This gene is present as two identical copies within a palindromic region; this record represents the more telomeric copy. [provided by RefSeq, Jul 2008]

VCY1B Gene

variable charge, Y-linked 1B

The protein encoded by this gene is a member of a family of human VCX/Y genes. This gene family has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. Members of the VCX/Y family share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. VCX/Y genes encode small and highly charged proteins of unknown function. This gene encodes a small, positively charged protein. The presence of a putative bipartite nuclear localization signal suggests that this gene encodes a nuclear protein. The genome has two identical copies of this gene within a palindromic region; this record represents the more telomeric copy. [provided by RefSeq, Jul 2008]

TRIM60P12Y Gene

tripartite motif containing 60 pseudogene 12, Y-linked

MRX8 Gene

mental retardation, X-linked 8

HSFY1P1 Gene

heat shock transcription factor, Y-linked 1 pseudogene 1

CDY13P Gene

chromodomain protein, Y-linked 13 pseudogene

TTTY8B Gene

testis-specific transcript, Y-linked 8B (non-protein coding)

VCX2 Gene

variable charge, X-linked 2

This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes that are expressed exclusively in male germ cells. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. This gene contains two copies of a 30 nt tandem repeat. Deletion of a nearby member of this family was implicated in mental retardation. [provided by RefSeq, Feb 2015]

LOC100128413 Gene

X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase pseudogene

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

FAM197Y6 Gene

family with sequence similarity 197, Y-linked, member 6

FAM197Y4 Gene

family with sequence similarity 197, Y-linked, member 4, pseudogene

TTTY27P Gene

testis-specific transcript, Y-linked 27, pseudogene

CDY2A Gene

chromodomain protein, Y-linked, 2A

This intronless gene encodes a protein containing a chromodomain and a histone acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as gene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thought to facilitate the transition in which protamines replace histones as the major DNA-packaging protein. Two nearly identical copies of this gene are found in a palindromic region on chromosome Y; this record represents the telomeric copy. Chromosome Y also contains a pair of closely related genes in another more telomeric palindrome as well as several related pseudogenes. [provided by RefSeq, Jul 2008]

CDY2B Gene

chromodomain protein, Y-linked, 2B

This intronless gene encodes a protein containing a chromodomain and a histone acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as gene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thought to facilitate the transition in which protamines replace histones as the major DNA-packaging protein. Two nearly identical copies of this gene are found in a palindromic region on chromosome Y; this record represents the centromeric copy. Chromosome Y also contains a pair of closely related genes in another more telomeric palindrome as well as several related pseudogenes. [provided by RefSeq, Jul 2008]

OFD1P13Y Gene

OFD1 pseudogene 13, Y-linked

TSPY16P Gene

testis specific protein, Y-linked 16, pseudogene

SRPX2 Gene

sushi-repeat containing protein, X-linked 2

This gene encodes a secreted protein that contains three sushi repeat motifs. The encoded protein may play a role in the development of speech and language centers in the brain. This protein may also be involved in angiogenesis. Mutations in this gene are the cause of bilateral perisylvian polymicrogyria, rolandic epilepsy, speech dyspraxia and mental retardation. [provided by RefSeq, May 2010]

CMR3A Gene

cardiomyopathy, restrictive 3A (X-linked)

MRX28 Gene

mental retardation, X-linked 28

SPGFX2 Gene

Spermatogenic failure, X-linked, 2

RBMY2HP Gene

RNA binding motif protein, Y-linked, family 2, member H pseudogene

RBMXP4 Gene

RNA binding motif protein, X-linked pseudogene 4

RBMXP1 Gene

RNA binding motif protein, X-linked pseudogene 1

RBMXP3 Gene

RNA binding motif protein, X-linked pseudogene 3

RBMXP2 Gene

RNA binding motif protein, X-linked pseudogene 2

ARMCX7P Gene

armadillo repeat containing, X-linked 7, pseudogene

CDY8P Gene

chromodomain protein, Y-linked 8 pseudogene

DELXP22.11 Gene

Autism, X-linked, susceptibility to, 4

PRY2 Gene

PTPN13-like, Y-linked 2

This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. It encodes a protein which has a low degree of similarity to protein tyrosine phosphatase, non-receptor type 13. Two nearly identical copies of this gene exist within a palindromic region. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008]

TRIM60P10Y Gene

tripartite motif containing 60 pseudogene 10, Y-linked

XECD Gene

Corneal dystrophy, endothelial, X-linked

ZNF736P9Y Gene

zinc finger protein 736 pseudogene 9, Y-linked

MRXSCS Gene

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

OFD1P2Y Gene

OFD1 pseudogene 2, Y-linked

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

TBL1X Gene

transducin (beta)-like 1X-linked

The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This encoded protein is found as a subunit in corepressor SMRT (silencing mediator for retinoid and thyroid receptors) complex along with histone deacetylase 3 protein. This gene is located adjacent to the ocular albinism gene and it is thought to be involved in the pathogenesis of the ocular albinism with late-onset sensorineural deafness phenotype. Four transcript variants encoding two different isoforms have been found for this gene. This gene is highly similar to the Y chromosome TBL1Y gene. [provided by RefSeq, Nov 2008]

TBL1Y Gene

transducin (beta)-like 1, Y-linked

The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This gene is highly similar to TBL1X gene in nucleotide sequence and protein sequence, but the TBL1X gene is located on chromosome X and this gene is on chromosome Y. This gene has three alternatively spliced transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

TTTY31P Gene

testis-specific transcript, Y-linked 31, pseudogene

TMSB4XP7 Gene

thymosin beta 4, X-linked pseudogene 7

TMSB4XP5 Gene

thymosin beta 4, X-linked pseudogene 5

TMSB4XP2 Gene

thymosin beta 4, X-linked pseudogene 2

TMSB4XP1 Gene

thymosin beta 4, X-linked pseudogene 1

TMSB4XP8 Gene

thymosin beta 4, X-linked pseudogene 8

RBMX2 Gene

RNA binding motif protein, X-linked 2

TSPY21P Gene

testis specific protein, Y-linked 21, pseudogene

TTTY2B Gene

testis-specific transcript, Y-linked 2B (non-protein coding)

TTTY21 Gene

testis-specific transcript, Y-linked 21 (non-protein coding)

TTTY20 Gene

testis-specific transcript, Y-linked 20 (non-protein coding)

TTTY23 Gene

testis-specific transcript, Y-linked 23 (non-protein coding)

TTTY22 Gene

testis-specific transcript, Y-linked 22 (non-protein coding)

INGX Gene

inhibitor of growth family, X-linked, pseudogene

MRXS7 Gene

mental retardation, X-linked, syndromic 7

TRIM60P11Y Gene

tripartite motif containing 60 pseudogene 11, Y-linked

ILK Gene

integrin-linked kinase

This gene encodes a protein with a kinase-like domain and four ankyrin-like repeats. The encoded protein associates at the cell membrane with the cytoplasmic domain of beta integrins, where it regulates integrin-mediated signal transduction. Activity of this protein is important in the epithelial to mesenchymal transition, and over-expression of this gene is implicated in tumor growth and metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]

RBMY2XP Gene

RNA binding motif protein, Y-linked, family 2, member X pseudogene

TBL1XR1 Gene

transducin (beta)-like 1 X-linked receptor 1

The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. [provided by RefSeq, Jul 2008]

TSPY26P Gene

testis specific protein, Y-linked 26, pseudogene

RBMY2EP Gene

RNA binding motif protein, Y-linked, family 2, member E pseudogene

RBMY3AP Gene

RNA binding motif protein, Y-linked, family 3, member A pseudogene

MRSS Gene

Mental retardation, X-linked, with short stature

CSPG4P1Y Gene

chondroitin sulfate proteoglycan 4 pseudogene 1, Y-linked

There are two copies of this pseudogene within the P1 palindrome on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008]

OFD1P16Y Gene

OFD1 pseudogene 16, Y-linked

TSPY15P Gene

testis specific protein, Y-linked 15, pseudogene

TRIM60P3Y Gene

tripartite motif containing 60 pseudogene 3, Y-linked

CDY16P Gene

chromodomain protein, Y-linked 16 pseudogene

THCYTX Gene

Thrombocytosis, familial X-linked

MRX77 Gene

mental retardation, X-linked 77

MRX78 Gene

mental retardation, X-linked 78

RBMY2MP Gene

RNA binding motif protein, Y-linked, family 2, member M pseudogene

VCX3B Gene

variable charge, X-linked 3B

This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22, and the Y-linked members are two identical copies of the gene within a palindromic region on chromosome Yq11. The family members share a high degree of sequence identity, with the exception that a 30-nt unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. This family member, as represented by the reference genome allele, contains 14 copies of the 30-nt repeat unit. VCX/Y genes encode small and highly charged proteins containing putative bipartite nuclear localization signals. Although the exact function of this family member has yet to be determined, a role in mRNA stability regulation can be inferred from the ability of the highly similar family member, VCX-A, to inhibit mRNA decapping. A possible role in the regulation of ribosome assembly during spermatogenesis has also been suggested. [provided by RefSeq, Aug 2010]

VCX3A Gene

variable charge, X-linked 3A

This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22 and Y-linked members are two identical copies of the gene within a palindromic region on Yq11. The family members share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. VCX/Y genes encode small and highly charged proteins of unknown function. The presence of a putative bipartite nuclear localization signal suggests that VCX/Y members are nuclear proteins. This gene contains 8 repeats of the 30-bp unit. [provided by RefSeq, Jul 2008]

SRPX Gene

sushi-repeat containing protein, X-linked

EOGT Gene

EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase

SCAX2 Gene

spinocerebellar ataxia, X-linked 2

SCAX3 Gene

spinocerebellar ataxia, X-linked 3

SCAX4 Gene

spinocerebellar ataxia, X-linked 4

SCAX5 Gene

Spinocerebellar ataxia, X-linked 5

TRIM60P9Y Gene

tripartite motif containing 60 pseudogene 9, Y-linked

PCDH11X Gene

protocadherin 11 X-linked

This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 7 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene is located in a major X/Y block of homology and its Y homolog, despite divergence leading to coding region changes, is the most closely related cadherin family member. The protein is thought to play a fundamental role in cell-cell recognition essential for the segmental development and function of the central nervous system. Disruption of this gene may be associated with developmental dyslexia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

PCDH11Y Gene

protocadherin 11 Y-linked

This gene belongs to the protocadherin family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing seven cadherin repeats, a transmembrane domain, and a cytoplasmic tail that differs from those of the classical cadherins. This gene is located on the Y chromosome in a block of X/Y homology and is very closely related to its paralog on the X chromosome. The protein is thought to play a role in cell-cell recognition during development of the central nervous system. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

CDY7P Gene

chromodomain protein, Y-linked 7 pseudogene

ZNF736P6Y Gene

zinc finger protein 736 pseudogene 6, Y-linked

NUDT19P2 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 19 pseudogene 2

ZNF736P10Y Gene

zinc finger protein 736 pseudogene 10, Y-linked

ALG1L9P Gene

asparagine-linked glycosylation 1-like 9, pseudogene

LOC101927685 Gene

heat shock transcription factor, X-linked-like

USP9YP19 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 19

RBMY2UP Gene

RNA binding motif protein, Y-linked, family 2, member U pseudogene

DDX3X Gene

DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked

The protein encoded by this gene is a member of the large DEAD-box protein family, that is defined by the presence of the conserved Asp-Glu-Ala-Asp (DEAD) motif, and has ATP-dependent RNA helicase activity. This protein has been reported to display a high level of RNA-independent ATPase activity, and unlike most DEAD-box helicases, the ATPase activity is thought to be stimulated by both RNA and DNA. This protein has multiple conserved domains and is thought to play roles in both the nucleus and cytoplasm. Nuclear roles include transcriptional regulation, mRNP assembly, pre-mRNA splicing, and mRNA export. In the cytoplasm, this protein is thought to be involved in translation, cellular signaling, and viral replication. Misregulation of this gene has been implicated in tumorigenesis. This gene has a paralog located in the nonrecombining region of the Y chromosome. Pseudogenes sharing similarity to both this gene and the DDX3Y paralog are found on chromosome 4 and the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

DDX3Y Gene

DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked

The protein encoded by this gene is a member of the DEAD-box RNA helicase family, characterized by nine conserved motifs, included the conserved Asp-Glu-Ala-Asp (DEAD) motif. These motifs are thought to be involved in ATP binding, hydrolysis, RNA binding, and in the formation of intramolecular interactions. This protein shares high similarity to DDX3X, on the X chromosome, but a deletion of this gene is not complemented by DDX3X. Mutations in this gene result in male infertility, a reduction in germ cell numbers, and can result in Sertoli-cell only sydrome. Pseudogenes sharing similarity to both this gene and the DDX3X paralog are found on chromosome 4 and the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]

OFD1P7Y Gene

OFD1 pseudogene 7, Y-linked

CDY15P Gene

chromodomain protein, Y-linked 15 pseudogene

MAGIX Gene

MAGI family member, X-linked

IDDMX Gene

Diabetes mellitus, insulin-dependent, X-linked, susceptibility to

XKRY Gene

XK, Kell blood group complex subunit-related, Y-linked

This gene is located in the nonrecombining portion of the Y chromosome, and is expressed specifically in testis. It encodes a protein which is similar to XK (X-linked Kell blood group precursor), a putative membrane transport protein. This gene is present as two identical copies within a palindromic region; this record represents the more centromeric copy. [provided by RefSeq, Jul 2008]

XKRX Gene

XK, Kell blood group complex subunit-related, X-linked

This gene encodes a protein that is related to a component of the XK/Kell complex of the Kell blood group system. The encoded protein includes several transmembrane domains, is known to be exposed to the cell surface, and may function as a membrane transporter. [provided by RefSeq, May 2010]

SNX3P1X Gene

sorting nexin 3 pseudogene 1, X-linked

SNX3P1Y Gene

sorting nexin 3 pseudogene 1, Y-linked

MYP1 Gene

myopia 1 (X-linked)

TMSB4XP6 Gene

thymosin beta 4, X-linked pseudogene 6

TMSB4XP4 Gene

thymosin beta 4, X-linked pseudogene 4

TSPY6P Gene

testis specific protein, Y-linked 6, pseudogene

RPS4X Gene

ribosomal protein S4, X-linked

Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes ribosomal protein S4, a component of the 40S subunit. Ribosomal protein S4 is the only ribosomal protein known to be encoded by more than one gene, namely this gene and ribosomal protein S4, Y-linked (RPS4Y). The 2 isoforms encoded by these genes are not identical, but are functionally equivalent. Ribosomal protein S4 belongs to the S4E family of ribosomal proteins. This gene is not subject to X-inactivation. It has been suggested that haploinsufficiency of the ribosomal protein S4 genes plays a role in Turner syndrome; however, this hypothesis is controversial. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]

CDY21P Gene

chromodomain protein, Y-linked 21 pseudogene

SMPX Gene

small muscle protein, X-linked

This gene encodes a small protein that has no known functional domains. Mutations in this gene are a cause of X-linked deafness-4, and the encoded protein may play a role in the maintenance of inner ear cells subjected to mechanical stress. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2011]

USP12PX Gene

ubiquitin specific peptidase 12 pseudogene, X-linked

USP12PY Gene

ubiquitin specific peptidase 12 pseudogene, Y-linked

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

NUDT16P1 Gene

nudix (nucleoside diphosphate linked moiety X)-type motif 16 pseudogene 1

TSPY5P Gene

testis specific protein, Y-linked 5, pseudogene

TTTY30P Gene

testis-specific transcript, Y-linked 30, pseudogene

OFD1P15Y Gene

OFD1 pseudogene 15, Y-linked

FAM197Y7 Gene

family with sequence similarity 197, Y-linked, member 7, pseudogene

TRIM60P4Y Gene

tripartite motif containing 60 pseudogene 4, Y-linked

POMGNT1 Gene

protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)

This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this gene may be associated with muscle-eye-brain disease and several congenital muscular dystrophies. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014]

POMGNT2 Gene

protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)

This gene encodes a protein with glycosyltransferase activity although its function is not currently known. [provided by RefSeq, Sep 2012]

LOC100421513 Gene

transducin (beta)-like 1 X-linked receptor 1 pseudogene

DFNY1 Gene

deafness, Y-linked 1

RBMY2BP Gene

RNA binding motif protein, Y-linked, family 2, member B pseudogene

CSPG4P4Y Gene

chondroitin sulfate proteoglycan 4 pseudogene 4, Y-linked

LOC100630919 Gene

thymosin beta 4, X-linked pseudogene

X-linked dominant scapuloperoneal myopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked dominant scapuloperoneal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Scapuloperoneal Myopathy, X-Linked Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Scapuloperoneal Myopathy, X-Linked Dominant from the curated CTD Gene-Disease Associations dataset.

scapuloperoneal myopathy, x-linked dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the scapuloperoneal myopathy, x-linked dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

SCAPULOPERONEAL MYOPATHY, MYH7-RELATED Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SCAPULOPERONEAL MYOPATHY, MYH7-RELATED from the curated CTD Gene-Disease Associations dataset.

scapuloperoneal myopathy Gene Set

From HPO Gene-Disease Associations

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

Benign scapuloperoneal muscular dystrophy with cardiomyopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Benign scapuloperoneal muscular dystrophy with cardiomyopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Scapuloperoneal Syndrome, Neurogenic, Kaeser Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Scapuloperoneal Syndrome, Neurogenic, Kaeser Type from the curated CTD Gene-Disease Associations dataset.

SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY from the curated CTD Gene-Disease Associations dataset.

scapuloperoneal Gene Set

From GeneRIF Biological Term Annotations

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

scapuloperoneal amyotrophy Gene Set

From HPO Gene-Disease Associations

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

scapuloperoneal weakness Gene Set

From HPO Gene-Disease Associations

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

scapuloperoneal syndrome, neurogenic, kaeser type Gene Set

From OMIM Gene-Disease Associations

genes associated with the scapuloperoneal syndrome, neurogenic, kaeser type phenotype from the curated OMIM Gene-Disease Associations dataset.

scapuloperoneal spinal muscular atrophy Gene Set

From OMIM Gene-Disease Associations

genes associated with the scapuloperoneal spinal muscular atrophy phenotype from the curated OMIM Gene-Disease Associations dataset.

scapuloperoneal syndrome, myopathic type Gene Set

From OMIM Gene-Disease Associations

genes associated with the scapuloperoneal syndrome, myopathic type phenotype from the curated OMIM Gene-Disease 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.

Inclusion Body Myopathy 3, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

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

nemaline myopathy 6, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

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

nemaline myopathy 1, autosomal dominant or recessive Gene Set

From OMIM Gene-Disease Associations

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

nemaline myopathy 4, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

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

nemaline myopathy 3, autosomal dominant or recessive Gene Set

From OMIM Gene-Disease Associations

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

Myopathy, reducing body, X-linked, early-onset, severe Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, reducing body, X-linked, early-onset, severe phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe X-linked myotubular myopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe X-linked myotubular myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked myopathy with postural muscle atrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked myopathy with postural muscle atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, reducing body, X-linked, childhood-onset Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, reducing body, X-linked, childhood-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, Reducing Body, X-Linked, Childhood-Onset Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy, Reducing Body, X-Linked, Childhood-Onset from the curated CTD Gene-Disease Associations dataset.

Myopathy, X-Linked, With Postural Muscle Atrophy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy, X-Linked, With Postural Muscle Atrophy from the curated CTD Gene-Disease Associations dataset.

Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked from the curated CTD Gene-Disease Associations dataset.

Myopathy, X-Linked, with Excessive Autophagy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy, X-Linked, with Excessive Autophagy from the curated CTD Gene-Disease Associations dataset.

MYOPATHY, CENTRONUCLEAR, X-LINKED Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MYOPATHY, CENTRONUCLEAR, X-LINKED from the curated CTD Gene-Disease Associations dataset.

Myopathy, Reducing Body, X-Linked, Early-Onset, Severe Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy, Reducing Body, X-Linked, Early-Onset, Severe from the curated CTD Gene-Disease Associations dataset.

x-linked myopathy with excessive autophagy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease x-linked myopathy with excessive autophagy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

myopathy, x-linked, with postural muscle atrophy Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, x-linked, with postural muscle atrophy phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, congenital, with fiber-type disproportion, x-linked Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, congenital, with fiber-type disproportion, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, reducing body, x-linked, childhood-onset Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, reducing body, x-linked, childhood-onset phenotype from the curated OMIM Gene-Disease Associations dataset.

myotubular myopathy, x-linked Gene Set

From OMIM Gene-Disease Associations

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

myopathy, reducing body, x-linked, severe early-onset Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, reducing body, x-linked, severe early-onset phenotype from the curated OMIM Gene-Disease Associations dataset.

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

From CTD Gene-Disease Associations

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

Charcot-Marie-Tooth disease, X-linked dominant, 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Charcot-Marie-Tooth disease, X-linked dominant, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Chondrodysplasia punctata 2 X-linked dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Chondrodysplasia punctata 2 X-linked dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT from the curated CTD Gene-Disease Associations dataset.

Chondrodysplasia punctata 2, X-linked dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Chondrodysplasia punctata 2, X-linked dominant from the curated CTD Gene-Disease Associations dataset.

hypophosphatemic rickets, x-linked dominant Gene Set

From GAD Gene-Disease Associations

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

x-linked dominant inheritance Gene Set

From HPO Gene-Disease Associations

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

Hypophosphatemic Rickets, X-Linked Dominant Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

?charcot-marie-tooth disease, x-linked dominant, 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?charcot-marie-tooth disease, x-linked dominant, 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

chondrodysplasia punctata, x-linked dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the chondrodysplasia punctata, x-linked dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

charcot-marie-tooth neuropathy, x-linked dominant, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the charcot-marie-tooth neuropathy, x-linked dominant, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

hypophosphatemic rickets, x-linked dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypophosphatemic rickets, x-linked dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

Trifunctional protein deficiency with myopathy and neuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Trifunctional protein deficiency with myopathy and neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bethlem myopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bethlem myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myofibrillar myopathy, ZASP-related Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myofibrillar myopathy, ZASP-related phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, lactic acidosis, and sideroblastic anemia 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, lactic acidosis, and sideroblastic anemia 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, centronuclear Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, centronuclear phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epiphyseal dysplasia, multiple, 3, with myopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epiphyseal dysplasia, multiple, 3, with myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Inclusion body myopathy 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Inclusion body myopathy 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, centronuclear, 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, centronuclear, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, myosin storage Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, myosin storage phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, actin, congenital, with cores Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, actin, congenital, with cores phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Peripheral neuropathy, myopathy, hoarseness, and hearing loss Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Peripheral neuropathy, myopathy, hoarseness, and hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Minicore myopathy with external ophthalmoplegia Gene Set

From ClinVar Gene-Phenotype Associations

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

Visceral myopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Visceral myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Native American myopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Native American myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Inclusion body myopathy with early-onset paget disease and frontotemporal dementia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Inclusion body myopathy with early-onset paget disease and frontotemporal dementia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, lactic acidosis, and sideroblastic anemia 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, lactic acidosis, and sideroblastic anemia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nonaka myopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nonaka myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, tubular aggregate, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, tubular aggregate, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myofibrillar myopathy, filamin C-related Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myofibrillar myopathy, filamin C-related phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy with lactic acidosis, hereditary Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy with lactic acidosis, hereditary phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, areflexia, respiratory distress, and dysphagia, early-onset Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, areflexia, respiratory distress, and dysphagia, early-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, actin, congenital, with excess of thin myofilaments Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, actin, congenital, with excess of thin myofilaments phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Distal myopathy Markesbery-Griggs type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Distal myopathy Markesbery-Griggs type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, congenital, with excess of muscle spindles Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, congenital, with excess of muscle spindles phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, distal, 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, distal, 4 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.

Hereditary myopathy with early respiratory failure Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary myopathy with early respiratory failure phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neutral lipid storage disease with myopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neutral lipid storage disease with myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nemaline myopathy 10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nemaline myopathy 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, congenital, compton-north Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, congenital, compton-north phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myofibrillar myopathy 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myofibrillar myopathy 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Brody myopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Brody myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nemaline myopathy 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nemaline myopathy 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nemaline myopathy 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nemaline myopathy 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nemaline myopathy 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nemaline myopathy 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nemaline myopathy 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nemaline myopathy 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, centronuclear, 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, centronuclear, 3 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.

Myopathy, distal, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, distal, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, distal, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, distal, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Miyoshi myopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Miyoshi myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Polyglucosan body myopathy, early-onset, with or without immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Polyglucosan body myopathy, early-onset, with or without immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy with tubular aggregates Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy with tubular aggregates phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital myopathy with fiber type disproportion Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital myopathy with fiber type disproportion phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MYOPATHY, CENTRONUCLEAR, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MYOPATHY, CENTRONUCLEAR, 2 from the curated CTD Gene-Disease Associations dataset.

MYOPATHY, CENTRONUCLEAR, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MYOPATHY, CENTRONUCLEAR, 1 from the curated CTD Gene-Disease Associations dataset.

Myopathy, Central Core Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy, Central Core from the curated CTD Gene-Disease Associations dataset.

Bethlem myopathy Gene Set

From CTD Gene-Disease Associations

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

Myopathy, Distal, with Anterior Tibial Onset Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy, Distal, with Anterior Tibial Onset from the curated CTD Gene-Disease Associations dataset.

Miyoshi myopathy Gene Set

From CTD Gene-Disease Associations

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

Welander distal myopathy, Swedish type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Welander distal myopathy, Swedish type from the curated CTD Gene-Disease Associations dataset.

Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia from the curated CTD Gene-Disease Associations dataset.

MYOPATHY, MYOFIBRILLAR, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MYOPATHY, MYOFIBRILLAR, 1 from the curated CTD Gene-Disease Associations dataset.

MYOPATHY, MYOFIBRILLAR, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MYOPATHY, MYOFIBRILLAR, 4 from the curated CTD Gene-Disease Associations dataset.

MYOPATHY, MYOFIBRILLAR, 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MYOPATHY, MYOFIBRILLAR, 6 from the curated CTD Gene-Disease Associations dataset.

Nemaline myopathy 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nemaline myopathy 6 from the curated CTD Gene-Disease Associations dataset.

Myopathy with lactic acidosis and sideroblastic anemia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy with lactic acidosis and sideroblastic anemia from the curated CTD Gene-Disease Associations dataset.

Nemaline myopathy 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nemaline myopathy 1 from the curated CTD Gene-Disease Associations dataset.

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION from the curated CTD Gene-Disease Associations dataset.

Trifunctional Protein Deficiency With Myopathy And Neuropathy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Trifunctional Protein Deficiency With Myopathy And Neuropathy from the curated CTD Gene-Disease Associations dataset.

Nemaline myopathy 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nemaline myopathy 5 from the curated CTD Gene-Disease Associations dataset.

Visceral Myopathy, Familial Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Visceral Myopathy, Familial from the curated CTD Gene-Disease Associations dataset.

Myopathy, Hyaline Body, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

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

Myopathy, Congenital, Compton-North Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy, Congenital, Compton-North from the curated CTD Gene-Disease Associations dataset.

Neutral Lipid Storage Disease with Myopathy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neutral Lipid Storage Disease with Myopathy from the curated CTD Gene-Disease Associations dataset.

Distal myopathy, Nonaka type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Distal myopathy, Nonaka type from the curated CTD Gene-Disease Associations dataset.

Hereditary Myopathy with Early Respiratory Failure Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hereditary Myopathy with Early Respiratory Failure from the curated CTD Gene-Disease Associations dataset.

MYOPATHY, SPHEROID BODY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MYOPATHY, SPHEROID BODY from the curated CTD Gene-Disease Associations dataset.

Minicore Myopathy with External Ophthalmoplegia Gene Set

From CTD Gene-Disease Associations

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

Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay from the curated CTD Gene-Disease Associations dataset.

Myopathy with Lactic Acidosis, Hereditary Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy with Lactic Acidosis, Hereditary from the curated CTD Gene-Disease Associations dataset.

Myopathy, Myosin Storage Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy, Myosin Storage from the curated CTD Gene-Disease Associations dataset.

Nemaline myopathy 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nemaline myopathy 3 from the curated CTD Gene-Disease Associations dataset.

Nemaline myopathy 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nemaline myopathy 4 from the curated CTD Gene-Disease Associations dataset.

Nemaline Myopathy 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nemaline Myopathy 2 from the curated CTD Gene-Disease Associations dataset.

Myopathy, Early-Onset, with Fatal Cardiomyopathy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy, Early-Onset, with Fatal Cardiomyopathy from the curated CTD Gene-Disease Associations dataset.

Inclusion body myopathy autosomal recessive Gene Set

From CTD Gene-Disease Associations

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

Brody myopathy Gene Set

From CTD Gene-Disease Associations

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

Nemaline Myopathy 7 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nemaline Myopathy 7 from the curated CTD Gene-Disease Associations dataset.

mitochondrial myopathy Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

brody myopathy Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

bethlem myopathy Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

myopathy Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

nemaline myopathy Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

central core myopathy Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease central core myopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

congenital structural myopathy Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease congenital structural myopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

centronuclear myopathy Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

myopathy of extraocular muscle Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease myopathy of extraocular muscle from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

myopathy Gene Set

From DISEASES Experimental Gene-Disease Assocation Evidence Scores

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

congenital structural myopathy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

central core myopathy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

brody myopathy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

myopathy of extraocular muscle Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

mitochondrial myopathy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

bethlem myopathy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

myopathy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

centronuclear myopathy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

nemaline myopathy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

adult onset multi/minicore myopathy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult onset multi/minicore myopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

variable myopathy Gene Set

From GAD Gene-Disease Associations

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

mild myotubular myopathy Gene Set

From GAD Gene-Disease Associations

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

inherited myopathy Gene Set

From GAD Gene-Disease Associations

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

mitochondrial myopathy Gene Set

From GAD Gene-Disease Associations

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

nemaline myopathy Gene Set

From GAD Gene-Disease Associations

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

myopathy, idiopathic inflammatory Gene Set

From GAD Gene-Disease Associations

genes associated with the disease myopathy, idiopathic inflammatory in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

myopathycausing Gene Set

From GeneRIF Biological Term Annotations

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

myopathy Gene Set

From GeneRIF Biological Term Annotations

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

MELAS - Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes_Muscle - Striated (Skeletal) (MMHCC)_GSE1462 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during MELAS - Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes_Muscle - Striated (Skeletal) (MMHCC)_GSE1462 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

Nemaline Myopathy_Gastrocnemius Muscle_GSE3384 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during Nemaline Myopathy_Gastrocnemius Muscle_GSE3384 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

myopathy Gene Set

From GWASdb SNP-Disease Associations

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

myofibrillar myopathy Gene Set

From HPO Gene-Disease Associations

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

mitochondrial myopathy Gene Set

From HPO Gene-Disease Associations

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

skeletal myopathy Gene Set

From HPO Gene-Disease Associations

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

myopathy Gene Set

From HPO Gene-Disease Associations

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

minicore (multicore) myopathy Gene Set

From HPO Gene-Disease Associations

genes associated with the minicore (multicore) myopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

myopathy Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the myopathy phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

myopathy, spheroid body Gene Set

From OMIM Gene-Disease Associations

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

myopathy with extrapyramidal signs Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy with extrapyramidal signs phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, myofibrillar, 2 Gene Set

From OMIM Gene-Disease Associations

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

myopathy, early-onset, with fatal cardiomyopathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, early-onset, with fatal cardiomyopathy phenotype from the curated OMIM Gene-Disease Associations dataset.

inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, distal, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, distal, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay phenotype from the curated OMIM Gene-Disease Associations dataset.

centronuclear myopathy 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the centronuclear myopathy 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, myosin storage Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, myosin storage phenotype from the curated OMIM Gene-Disease Associations dataset.

native american myopathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the native american myopathy phenotype from the curated OMIM Gene-Disease Associations dataset.

inclusion body myopathy, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

myopathy, areflexia, respiratory distress, and dysphagia, early-onset Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, areflexia, respiratory distress, and dysphagia, early-onset phenotype from the curated OMIM Gene-Disease Associations dataset.

?inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, tubular aggregate Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, tubular aggregate phenotype from the curated OMIM Gene-Disease Associations dataset.

epiphyseal dysplasia, multiple, with myopathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the epiphyseal dysplasia, multiple, with myopathy phenotype from the curated OMIM Gene-Disease Associations dataset.

poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis phenotype from the curated OMIM Gene-Disease Associations dataset.

nemaline myopathy 8, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

brody myopathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the brody myopathy phenotype from the curated OMIM Gene-Disease Associations dataset.

neutral lipid storage disease with myopathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutral lipid storage disease with myopathy phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, myofibrillar, 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, myofibrillar, 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, actin, congenital, with cores Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, actin, congenital, with cores phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant phenotype from the curated OMIM Gene-Disease Associations dataset.

?myopathy, congenital, compton-north Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?myopathy, congenital, compton-north phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy with lactic acidosis, hereditary Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy with lactic acidosis, hereditary phenotype from the curated OMIM Gene-Disease Associations dataset.

nemaline myopathy 5, amish type Gene Set

From OMIM Gene-Disease Associations

genes associated with the nemaline myopathy 5, amish type phenotype from the curated OMIM Gene-Disease Associations dataset.

?inclusion body myopathy wtih early-onset paget disease without frontotemporal dementia 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?inclusion body myopathy wtih early-onset paget disease without frontotemporal dementia 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

congenital myopathy with excess of muscle spindles Gene Set

From OMIM Gene-Disease Associations

genes associated with the congenital myopathy with excess of muscle spindles phenotype from the curated OMIM Gene-Disease Associations dataset.

welander distal myopathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the welander distal myopathy phenotype from the curated OMIM Gene-Disease Associations dataset.

ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss Gene Set

From OMIM Gene-Disease Associations

genes associated with the ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss phenotype from the curated OMIM Gene-Disease Associations dataset.

bethlem myopathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the bethlem myopathy phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, centronuclear, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

myopathy, distal 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, distal 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, proximal, with early respiratory muscle involvement Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, proximal, with early respiratory muscle involvement phenotype from the curated OMIM Gene-Disease Associations dataset.

laing distal myopathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the laing distal myopathy phenotype from the curated OMIM Gene-Disease Associations dataset.

polyglucosan body myopathy, early-onset, with or without immunodeficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the polyglucosan body myopathy, early-onset, with or without immunodeficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, congenital, with fiber-type disproportion 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, congenital, with fiber-type disproportion 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

?myopathy, tubular aggregate, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?myopathy, tubular aggregate, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

nemaline myopathy 7, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

mitochondrial myopathy and sideroblastic anemia 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mitochondrial myopathy and sideroblastic anemia 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, myofibrillar, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, myofibrillar, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, myofibrillar, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, myofibrillar, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, myofibrillar, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, myofibrillar, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, myofibrillar, 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, myofibrillar, 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, lactic acidosis, and sideroblastic anemia 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, lactic acidosis, and sideroblastic anemia 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

minicore myopathy with external ophthalmoplegia Gene Set

From OMIM Gene-Disease Associations

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

myopathy, distal, with anterior tibial onset Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, distal, with anterior tibial onset phenotype from the curated OMIM Gene-Disease Associations dataset.

cap myopathy 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cap myopathy 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

cap myopathy 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cap myopathy 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

{centronuclear myopathy, autosomal, modifier of} Gene Set

From OMIM Gene-Disease Associations

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

myopathy, congenital, with fiber-type disproportion Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, congenital, with fiber-type disproportion phenotype from the curated OMIM Gene-Disease Associations dataset.

inclusion body myopathy-3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the inclusion body myopathy-3 phenotype from the curated OMIM Gene-Disease Associations dataset.

nemaline myopathy 9 Gene Set

From OMIM Gene-Disease Associations

genes associated with the nemaline myopathy 9 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, centronuclear, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, centronuclear, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, centronuclear, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, centronuclear, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, centronuclear Gene Set

From OMIM Gene-Disease Associations

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

?peripheral neuropathy, myopathy, hoarseness, and hearing loss Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?peripheral neuropathy, myopathy, hoarseness, and hearing loss phenotype from the curated OMIM Gene-Disease Associations dataset.

nemaline myopathy 2, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

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

myopathy due to cpt ii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy due to cpt ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

nonaka myopathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the nonaka myopathy phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, distal, tateyama type Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, distal, tateyama type phenotype from the curated OMIM Gene-Disease Associations dataset.

visceral myopathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the visceral myopathy phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, actin, congenital, with excess of thin myofilaments Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, actin, congenital, with excess of thin myofilaments phenotype from the curated OMIM Gene-Disease Associations dataset.

nemaline myopathy 10 Gene Set

From OMIM Gene-Disease Associations

genes associated with the nemaline myopathy 10 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy due to myoadenylate deaminase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy due to myoadenylate deaminase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy Gene Set

From PhosphoSitePlus Phosphosite-Disease Associations

proteins associated with the disease myopathy from the curated PhosphoSitePlus Phosphosite-Disease Associations dataset.

Myopia 21, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopia 21, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopia 24, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

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

Congenital myotonia, autosomal dominant form Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal dominant 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal dominant 5 Gene Set

From ClinVar Gene-Phenotype Associations

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

Giant axonal neuropathy, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Giant axonal neuropathy, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract, autosomal dominant, multiple types, with microcornea Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract, autosomal dominant, multiple types, with microcornea phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Craniodiaphyseal dysplasia, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

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

Charcot-Marie-Tooth disease, dominant intermediate F Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Charcot-Marie-Tooth disease, dominant intermediate F phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Charcot-Marie-Tooth disease, dominant intermediate E Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Charcot-Marie-Tooth disease, dominant intermediate E phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Charcot-Marie-Tooth disease, dominant intermediate C Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Charcot-Marie-Tooth disease, dominant intermediate C phenotype from the curated ClinVar Gene-Phenotype 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.

Bernard-Soulier syndrome, type A2, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bernard-Soulier syndrome, type A2, autosomal dominant 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.

Beta-thalassemia, dominant inclusion body type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Beta-thalassemia, dominant inclusion body type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal dominant torsion dystonia 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal dominant torsion dystonia 4 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.

Osteogenesis imperfecta with normal sclerae, dominant form Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Osteogenesis imperfecta with normal sclerae, dominant form phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 4, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

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

Coronary artery disease, autosomal dominant 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coronary artery disease, autosomal dominant 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital stationary night blindness, autosomal dominant 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital stationary night blindness, autosomal dominant 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal dominant isolated somatotropin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal dominant isolated somatotropin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sick sinus syndrome 2, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sick sinus syndrome 2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal dominant nocturnal frontal lobe epilepsy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal dominant nocturnal frontal lobe epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ceroid lipofuscinosis neuronal 4B autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ceroid lipofuscinosis neuronal 4B autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, without vestibular involvement, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Thyroid hormone resistance, generalized, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

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

Hypocalcemia, autosomal dominant 2 Gene Set

From ClinVar Gene-Phenotype Associations

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

Hypocalcemia, autosomal dominant 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Hypocalcemia, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

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

Renal tubular acidosis, distal, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

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

Rhegmatogenous retinal detachment, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rhegmatogenous retinal detachment, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Larsen syndrome, dominant type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Larsen syndrome, dominant type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dominant hereditary optic atrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dominant hereditary optic atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Generalized dominant dystrophic epidermolysis bullosa Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Generalized dominant dystrophic epidermolysis bullosa phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Keratitis, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

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

Parkinson disease 8, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Parkinson disease 8, autosomal dominant 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.

Ataxia, sensory, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

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

Osteopetrosis autosomal dominant type 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Congenital stationary night blindness, autosomal dominant 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital stationary night blindness, autosomal dominant 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Charcot-Marie-Tooth disease, dominant intermediate b, with neutropenia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Charcot-Marie-Tooth disease, dominant intermediate b, with neutropenia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 72, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

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

Craniometaphyseal dysplasia, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

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

Vitreoretinochoroidopathy dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Vitreoretinochoroidopathy dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypercarotenemia and vitamin a deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypercarotenemia and vitamin a deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 31, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 31, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Optic atrophy and cataract, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Optic atrophy and cataract, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal dominant 11 Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal dominant CD11C+/CD1C+ dendritic cell deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal dominant CD11C+/CD1C+ dendritic cell deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal dominant 15 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal dominant 12 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal dominant 13 Gene Set

From ClinVar Gene-Phenotype Associations

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

Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Charcot-Marie-Tooth disease dominant intermediate 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Charcot-Marie-Tooth disease dominant intermediate 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal dominant nonsyndromic sensorineural 17 Gene Set

From ClinVar Gene-Phenotype Associations

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

Dyskeratosis congenita, autosomal dominant, 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Autoimmune polyglandular syndrome type 1, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autoimmune polyglandular syndrome type 1, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Methionine adenosyltransferase deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal dominant 2b Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal dominant 20 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal dominant 22 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal dominant 25 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal dominant 28 Gene Set

From ClinVar Gene-Phenotype Associations

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

Epilepsy, lateral temporal lobe, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epilepsy, lateral temporal lobe, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dominant dystrophic epidermolysis bullosa with absence of skin Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dominant dystrophic epidermolysis bullosa with absence of skin phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 33, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 33, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neuropathy, congenital hypomyelinating, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neuropathy, congenital hypomyelinating, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Klippel-Feil syndrome 1, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Klippel-Feil syndrome 1, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal dominant 3b Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal dominant 3a Gene Set

From ClinVar Gene-Phenotype Associations

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

Hypocalcemia, autosomal dominant 1, with bartter syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypocalcemia, autosomal dominant 1, with bartter syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia 2, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia 2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Emery-dreifuss muscular dystrophy 4, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Emery-dreifuss muscular dystrophy 4, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal dominant 4b Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal dominant 48 Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal dominant 41 Gene Set

From ClinVar Gene-Phenotype Associations

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

Slowed nerve conduction velocity, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Slowed nerve conduction velocity, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dyskeratosis congenita autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

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

Amelogenesis imperfecta - hypoplastic autosomal dominant - local Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Amelogenesis imperfecta - hypoplastic autosomal dominant - local phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypercholesterolemia, autosomal dominant, type B Gene Set

From ClinVar Gene-Phenotype Associations

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

Pseudohypoaldosteronism type 1 autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

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

Deafness, autosomal dominant 56 Gene Set

From ClinVar Gene-Phenotype Associations

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

Myopia 22, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopia 22, autosomal dominant 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.

Hypercholesterolemia, autosomal dominant, 3 Gene Set

From ClinVar Gene-Phenotype Associations

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

Dejerine-Sottas syndrome, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dejerine-Sottas syndrome, autosomal dominant 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.

Wolfram-like syndrome, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Wolfram-like syndrome, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Emery-Dreifuss muscular dystrophy 7, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Emery-Dreifuss muscular dystrophy 7, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal dominant 64 Gene Set

From ClinVar Gene-Phenotype Associations

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

Iridogoniodysgenesis, dominant type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Iridogoniodysgenesis, dominant type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 42, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 42, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal dominant hypophosphatemic rickets Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal dominant hypophosphatemic rickets phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract, autosomal dominant 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.

Ectopia lentis, isolated, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ectopia lentis, isolated, autosomal dominant 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.

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

From CTD Gene-Disease Associations

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

Spastic Paraplegia 36, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

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

Thyroid Hormone Resistance, Generalized, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

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

Night Blindness, Congenital Stationary, Autosomal Dominant 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Night Blindness, Congenital Stationary, Autosomal Dominant 3 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 44 Gene Set

From CTD Gene-Disease Associations

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

WOOLLY HAIR, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 47 Gene Set

From CTD Gene-Disease Associations

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

Filaminopathy, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Filaminopathy, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 25 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 15 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 10 Gene Set

From CTD Gene-Disease Associations

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

Charcot-Marie-Tooth Disease, Dominant Intermediate D Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Charcot-Marie-Tooth Disease, Dominant Intermediate D from the curated CTD Gene-Disease Associations dataset.

DEAFNESS, AUTOSOMAL DOMINANT 27 Gene Set

From CTD Gene-Disease Associations

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

Hypophosphatemic Rickets, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

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

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 from the curated CTD Gene-Disease Associations dataset.

Neutropenia, Severe Congenital, Autosomal Dominant 2 Gene Set

From CTD Gene-Disease Associations

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

Sick Sinus Syndrome 2, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

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

Nystagmus 2, congenital, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nystagmus 2, congenital, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

Coronary Artery Disease, Autosomal Dominant 2 Gene Set

From CTD Gene-Disease Associations

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

Nystagmus 4, congenital, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nystagmus 4, congenital, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 4, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic paraplegia 4, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

Hypercholesterolemia, Autosomal Dominant, 3 Gene Set

From CTD Gene-Disease Associations

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

PARKINSON DISEASE 8, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PARKINSON DISEASE 8, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

Spastic Paraplegia 31, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

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

DEAFNESS, AUTOSOMAL DOMINANT 4A Gene Set

From CTD Gene-Disease Associations

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

Spastic Paraplegia 42, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic Paraplegia 42, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Spastic Paraplegia 33, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic Paraplegia 33, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Slowed Nerve Conduction Velocity, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Slowed Nerve Conduction Velocity, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Charcot-Marie-Tooth Disease, Dominant Intermediate A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Charcot-Marie-Tooth Disease, Dominant Intermediate A from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 10, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic paraplegia 10, autosomal dominant from the curated CTD Gene-Disease 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.

Parkinson Disease 3, Autosomal Dominant Lewy Body Gene Set

From CTD Gene-Disease Associations

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

Polycystic Kidney, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

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

KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

PARKINSON DISEASE 5, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PARKINSON DISEASE 5, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 53 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 49 Gene Set

From CTD Gene-Disease Associations

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

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4 from the curated CTD Gene-Disease Associations dataset.

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 from the curated CTD Gene-Disease Associations dataset.

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 from the curated CTD Gene-Disease Associations dataset.

Charcot-Marie-Tooth Disease, Dominant Intermediate C Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Charcot-Marie-Tooth Disease, Dominant Intermediate C from the curated CTD Gene-Disease Associations dataset.

Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 9, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic paraplegia 9, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

Spastic Paraplegia 37, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic Paraplegia 37, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Osteopetrosis autosomal dominant type 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Osteopetrosis autosomal dominant type 1 from the curated CTD Gene-Disease Associations dataset.

Craniometaphyseal Dysplasia, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

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

Familial Mediterranean Fever, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Familial Mediterranean Fever, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 3, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic paraplegia 3, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

Cataract, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

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

Spastic Paraplegia 38, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic Paraplegia 38, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 48 Gene Set

From CTD Gene-Disease Associations

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

Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy from the curated CTD Gene-Disease Associations dataset.

Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 29, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic paraplegia 29, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

Neutropenia, Severe Congenital, Autosomal Dominant 1 Gene Set

From CTD Gene-Disease Associations

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

Striatal Degeneration, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 23 Gene Set

From CTD Gene-Disease Associations

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

Deafness, Autosomal Dominant 28 Gene Set

From CTD Gene-Disease Associations

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

Optic atrophy and cataract, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Optic atrophy and cataract, autosomal dominant from the curated CTD Gene-Disease Associations dataset.

Beta Thalassemia, Dominant Inclusion Body Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Beta Thalassemia, Dominant Inclusion Body Type from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Dominant 43 Gene Set

From CTD Gene-Disease Associations

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

Spastic paraplegia 6, autosomal dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic paraplegia 6, autosomal dominant from the curated CTD Gene-Disease Associations dataset.