Name

DISEASES Curated Gene-Disease Assocation Evidence Scores Dataset

From DISEASES

disease gene evidence scores by manual literature curation

DISEASES Experimental Gene-Disease Assocation Evidence Scores Dataset

From DISEASES

disease gene evidence scores by integrating experimental data (GWAS)

DISEASES Text-mining Gene-Disease Assocation Evidence Scores Dataset

From DISEASES

gene-disease co-occurrence scores from text-mining biomedical abstracts

GEO Signatures of Differentially Expressed Genes for Diseases Dataset

From Gene Expression Omnibus

mRNA expression profiles for cell lines or tissues following disease perturbation

GAD Gene-Disease Associations Dataset

From Genetic Association Database

gene-disease associations curated from genetic association studies

GAD High Level Gene-Disease Associations Dataset

From Genetic Association Database

gene-disease associations curated from genetic association studies

NYS2 Gene

nystagmus 2, congenital autosomal dominant

NYS3 Gene

nystagmus 3, congenital autosomal dominant

NYS7 Gene

Nystagmus 7, congenital

NYS4 Gene

nystagmus 4, congenital autosomal dominant

PTOS2 Gene

Ptosis, hereditary congenital 2

HPCX Gene

hereditary prostate cancer, X-linked

HPCX2 Gene

Prostate cancer, hereditary, X-linked 2

CFTDX Gene

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

NYS5 Gene

Nystagmus 5, infantile periodic alternating

MNDEC Gene

Microtia with nasolacrimal duct imperforation and eye coloboma

CECR5 Gene

cat eye syndrome chromosome region, candidate 5

CECR9 Gene

cat eye syndrome chromosome region, candidate 9 (non-protein coding)

BED Gene

Bornholm eye disease

OED Gene

Oregon eye disease

CECR1 Gene

cat eye syndrome chromosome region, candidate 1

This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein is one of two adenosine deaminases found in humans, which regulate levels of the signaling molecule, adenosine. The encoded protein is secreted from monocytes undergoing differentiation and may regulate cell proliferation and differentiation. This gene may be responsible for some of the phenotypic features associated with cat eye syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

CECR2 Gene

cat eye syndrome chromosome region, candidate 2

This gene encodes a bromodomain-containing protein that is involved in chromatin remodeling, and may additionally play a role in DNA damage response. The encoded protein functions as part of an ATP-dependent complex that is involved in neurulation. This gene is a candidate gene for Cat Eye Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

CECR3 Gene

cat eye syndrome chromosome region, candidate 3 (non-protein coding)

CECR6 Gene

cat eye syndrome chromosome region, candidate 6

EYCL1 Gene

eye color 1 (green/blue)

SHEP8 Gene

Skin/hair/eye pigmentation 8, freckling

CECR7 Gene

cat eye syndrome chromosome region, candidate 7 (non-protein coding)

CECR Gene

cat eye syndrome chromosome region

Cat eye syndrome (CES) is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development. A small supernumerary chromosome (smaller than chromosome 21) is present, frequently has 2 centromeres, is bisatellited, and represents an inv dup(22)(q11).[supplied by OMIM, Aug 2009]

HMN7A Gene

Motor neuronopathy, distal hereditary, type VIIA

HPFH2 Gene

hereditary persistence of fetal hemoglobin, heterocellular, Indian type

HHT4 Gene

Telangiectasia, hereditary hemorrhagic, type 4

HPC5 Gene

prostate cancer, hereditary, 5

HPC4 Gene

Prostate cancer, hereditary, 4

HPC3 Gene

Prostate cancer, hereditary, 3

HPC7 Gene

Prostate cancer, hereditary, 7

DHS Gene

dehydrated hereditary stomatocytosis

GINGF4 Gene

gingival fibromatosis, hereditary, 4

HMSN5 Gene

Hereditary motor and sensory neuropathy V

HPC15 Gene

Prostate cancer, hereditary, 15

HPC14 Gene

Prostate cancer, hereditary, 14

HPC10 Gene

Prostate cancer, hereditary, 10

NMSR Gene

Neuropathy, hereditary motor and sensory, Russe type

HPC9 Gene

Prostate cancer, hereditary, 9

LMPH1B Gene

Lymphedema, hereditary, IB

HEMC Gene

hemangioma, capillary, hereditary

HSN1B Gene

Hereditary sensory neuropathy, type IB

HNB1 Gene

hereditary neuroblastoma 1

ETM3 Gene

Tremor, hereditary essential, 3

HBFQTL2 Gene

hereditary persistence of fetal hemoglobin, heterocellular

HMNJ Gene

Distal hereditary motor neuropathy, Jerash type

DKBI Gene

Dyskeratosis, hereditary benign intraepithelial

GINGF3 Gene

gingival fibromatosis, hereditary, 3

GINGF2 Gene

gingival fibromatosis, hereditary, 2

HMSNO Gene

Neuropathy, hereditary motor and sensory, Okinawa type

CMAL Gene

Capillary malformations, hereditary

MUHH2 Gene

Hypotrichosis, hereditary, Marie Unna type, 2

MCOPCT1 Gene

cataract, congenital, with microphthalmia

NPHS1 Gene

nephrosis 1, congenital, Finnish type (nephrin)

This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009]

CTRCT37 Gene

Cataract, congenital cerulean type, 5

CTRCT34 Gene

Cataract, autosomal recessive congenital 3

CTRCT35 Gene

cataract, congenital nuclear, autosomal recessive

BSCL2 Gene

Berardinelli-Seip congenital lipodystrophy 2 (seipin)

This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Mar 2011]

HTC1 Gene

hypertrichosis 1 (universalis, congenital)

HTC2 Gene

hypertrichosis 2 (generalized, congenital)

RNANC Gene

Retinal nonattachment, nonsyndromic congenital

NHS Gene

Nance-Horan syndrome (congenital cataracts and dental anomalies)

This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2014]

MDC1B Gene

Muscular dystrophy, congenital, 1B

CDAN3 Gene

congenital dyserythropoietic anemia, type III

LCA5L Gene

Leber congenital amaurosis 5-like

NDNC9 Gene

Nail disorder, nonsyndromic congenital, 9

NDIC Gene

Nail dysplasia, isolated congenital

CTRCT27 Gene

Cataract, congenital, nuclear progressive

PTOS1 Gene

ptosis, congenital 1 (autosomal dominant)

GLC3C Gene

glaucoma 3, primary congenital, C

SMAL Gene

spinal muscular atrophy, congenital nonprogressive, of lower limbs

ANIC Gene

Anosmia, isolated congenital

CHDT3 Gene

Congenital heart defects, multiple types, 3

MDCMP Gene

muscular dystrophy, congenital, merosin-positive

CHNG3 Gene

Hypothyroidism, congenital, nongoitrous, 3

LCA5 Gene

Leber congenital amaurosis 5

This gene encodes a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Alternatively spliced transcript variants are described. [provided by RefSeq, Oct 2009]

CCA1 Gene

cataract, congenital, cerulean type, 1

CCT Gene

cataract, congenital, total

CCV Gene

cataract, congenital, Volkmann type

MCOR Gene

microcoria, congenital

DIH2 Gene

Hernia, congenital diaphragmatic 2

ARCI9 Gene

Ichthyosis, congenital, autosomal recessive 9

ARCI7 Gene

Ichthyosis, congenital, autosomal recessive 7

PAFC Gene

Preauricular fistulae, congenital

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]

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

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]

CMTX3 Gene

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

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

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

eye diseases, hereditary; genetic diseases, x-linked; nystagmus, congenital; nystagmus, pathologic; strabismus Gene Set

From GAD Gene-Disease Associations

genes associated with the disease eye diseases, hereditary; genetic diseases, x-linked; nystagmus, congenital; nystagmus, pathologic; strabismus in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

eye diseases, hereditary; hearing impairment; hearing loss; hereditary nephritis; nephritis, hereditary Gene Set

From GAD Gene-Disease Associations

genes associated with the disease eye diseases, hereditary; hearing impairment; hearing loss; hereditary nephritis; nephritis, hereditary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

eye infections, fungal; fungal eye infections; histoplasmosis; neovascularization, pathologic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease eye infections, fungal; fungal eye infections; histoplasmosis; neovascularization, pathologic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

colitis, ulcerative; crohn disease; eye diseases; inflammatory bowel diseases; joint diseases; liver diseases; skin diseases; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease colitis, ulcerative; crohn disease; eye diseases; inflammatory bowel diseases; joint diseases; liver diseases; skin diseases; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

genetic diseases, x-linked; kidney diseases; oculocerebrorenal syndrome Gene Set

From GAD Gene-Disease Associations

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

Nystagmus, Pathologic Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nystagmus, Pathologic from the curated CTD Gene-Disease Associations dataset.

pathologic nystagmus Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

Nystagmus 6, congenital, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nystagmus 6, congenital, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nystagmus 1, congenital, X- linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Nystagmus 1, congenital, X- linked from the curated CTD Gene-Disease Associations dataset.

NYSTAGMUS 5, CONGENITAL, X-LINKED Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NYSTAGMUS 5, CONGENITAL, X-LINKED from the curated CTD Gene-Disease Associations dataset.

NYSTAGMUS 6, CONGENITAL, X-LINKED Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NYSTAGMUS 6, CONGENITAL, X-LINKED from the curated CTD Gene-Disease Associations dataset.

nystagmus 1, congenital, x-linked Gene Set

From OMIM Gene-Disease Associations

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

nystagmus 6, congenital, x-linked Gene Set

From OMIM Gene-Disease Associations

genes associated with the nystagmus 6, congenital, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.

nystagmus 5, congenital, x-linked Gene Set

From OMIM Gene-Disease Associations

genes associated with the nystagmus 5, congenital, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.

congenital strabismus Gene Set

From HPO Gene-Disease Associations

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

gastrointestinal neoplasms; hht - hereditary hemorrhagic telangiectasia; intestinal polyposis; neoplastic syndromes, hereditary; telangiectasia, hereditary hemorrhagic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease gastrointestinal neoplasms; hht - hereditary hemorrhagic telangiectasia; intestinal polyposis; neoplastic syndromes, hereditary; telangiectasia, hereditary hemorrhagic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Genetic Diseases, X-Linked Gene Set

From CTD Gene-Disease Associations

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

agammaglobulinemia; genetic diseases, x-linked Gene Set

From GAD Gene-Disease Associations

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

genetic diseases, x-linked; lupus erythematosus, systemic; systemic lupus erythematosus Gene Set

From GAD Gene-Disease Associations

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

genetic diseases, x-linked; rett syndrome Gene Set

From GAD Gene-Disease Associations

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

charcot-marie-tooth disease; genetic diseases, x-linked Gene Set

From GAD Gene-Disease Associations

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

colitis, ulcerative; crohn disease; genetic diseases, x-linked; sex chromosome aberrations Gene Set

From GAD Gene-Disease Associations

genes associated with the disease colitis, ulcerative; crohn disease; genetic diseases, x-linked; sex chromosome aberrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Genetic Diseases, Y-Linked Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Genetic Diseases, Y-Linked phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Genetic Diseases, X-Linked Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

cystic kidney diseases; kidney diseases, cystic; leber congenital amaurosis; optic atrophies, hereditary; vision disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cystic kidney diseases; kidney diseases, cystic; leber congenital amaurosis; optic atrophies, hereditary; vision disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Eye Diseases, Hereditary Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Eye Diseases, Hereditary from the curated CTD Gene-Disease Associations dataset.

eye diseases, hereditary; macular degeneration; retinal degeneration Gene Set

From GAD Gene-Disease Associations

genes associated with the disease eye diseases, hereditary; macular degeneration; retinal degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

eye diseases, hereditary; pseudoxanthoma elasticum Gene Set

From GAD Gene-Disease Associations

genes associated with the disease eye diseases, hereditary; pseudoxanthoma elasticum in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

autoimmune diseases; skin diseases, genetic; vitiligo Gene Set

From GAD Gene-Disease Associations

genes associated with the disease autoimmune diseases; skin diseases, genetic; vitiligo in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dilatation, pathologic; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dilatation, pathologic; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anticipation, genetic; colorectal neoplasms, hereditary nonpolyposis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anticipation, genetic; colorectal neoplasms, hereditary nonpolyposis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

X-linked infantile nystagmus Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked infantile nystagmus phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

nystagmus, infantile periodic alternating, x-linked Gene Set

From OMIM Gene-Disease Associations

genes associated with the nystagmus, infantile periodic alternating, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.

eye neoplasms; melanoma; tumour of eye Gene Set

From GAD Gene-Disease Associations

genes associated with the disease eye neoplasms; melanoma; tumour of eye in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Congenital, Hereditary, and Neonatal Diseases and Abnormalities Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities 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.

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.

Nystagmus 3, congenital, autosomal dominant Gene Set

From CTD Gene-Disease Associations

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

Nystagmus, Congenital Gene Set

From CTD Gene-Disease Associations

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

congenital nystagmus Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

congenital nystagmus Gene Set

From HPO Gene-Disease Associations

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

nystagmus 2, congenital, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

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

nystagmus 7, congenital, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

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

nystagmus 3, congenital, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

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

nystagmus 4, congenital, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

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

Mental retardation, anterior maxillary protrusion, and strabismus Gene Set

From ClinVar Gene-Phenotype Associations

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

MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS Gene Set

From CTD Gene-Disease Associations

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

Strabismus Gene Set

From CTD Gene-Disease Associations

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

strabismus Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

strabismus Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

strabismus Gene Set

From GeneRIF Biological Term Annotations

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

strabismus Gene Set

From HPO Gene-Disease Associations

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

Strabismus Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Strabismus protein domain from the InterPro Predicted Protein Domain Annotations dataset.

mental retardation, anterior maxillary protrusion, and strabismus Gene Set

From OMIM Gene-Disease Associations

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

{strabismus, susceptibility to, 1} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {strabismus, susceptibility to, 1} phenotype from the curated OMIM Gene-Disease Associations dataset.

anemia, sickle cell; arterial occlusive diseases; constriction, pathologic; ischemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, sickle cell; arterial occlusive diseases; constriction, pathologic; ischemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

constriction, pathologic; ischemia; peripheral arterial disease; peripheral arterial diseases; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease constriction, pathologic; ischemia; peripheral arterial disease; peripheral arterial diseases; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; congenital abnormalities; craniofacial abnormalities; syndrome; translocation, genetic Gene Set

From GAD Gene-Disease Associations

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

eye diseases; retinal diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease eye diseases; retinal diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

eye diseases; sarcoidosis; skin diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease eye diseases; sarcoidosis; skin diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

eye diseases; hypersensitivity; respiratory tract diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease eye diseases; hypersensitivity; respiratory tract diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

connective tissue diseases; fetal diseases; inflammation; musculoskeletal diseases; pregnancy complications, hematologic; premature birth; skin diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease connective tissue diseases; fetal diseases; inflammation; musculoskeletal diseases; pregnancy complications, hematologic; premature birth; skin diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adrenal hyperplasia, congenital; cardiovascular diseases; congenital adrenal hyperplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adrenal hyperplasia, congenital; cardiovascular diseases; congenital adrenal hyperplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; heart defects, congenital; nervous system diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; heart defects, congenital; nervous system diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diseases; hereditary central nervous system demyelinating diseases; leukoencephalopathies Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diseases; hereditary central nervous system demyelinating diseases; leukoencephalopathies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart diseases; hyperplasia; liver diseases; telangiectasia, hereditary hemorrhagic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart diseases; hyperplasia; liver diseases; telangiectasia, hereditary hemorrhagic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Genetic Diseases, Inborn Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Genetic Diseases, Inborn from the curated CTD Gene-Disease Associations dataset.

cardiovascular diseases; genetic predisposition to disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiovascular diseases; genetic predisposition to disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiovascular diseases; diabetes mellitus; genetic predisposition to disease; hypertension Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiovascular diseases; diabetes mellitus; genetic predisposition to disease; hypertension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cockayne syndrome; genetic diseases, inborn Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cockayne syndrome; genetic diseases, inborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, aplastic; aplastic anemia; genetic diseases, inborn; graft vs host disease; hematologic neoplasms; recurrence Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, aplastic; aplastic anemia; genetic diseases, inborn; graft vs host disease; hematologic neoplasms; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

psoriasis; skin diseases, genetic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease psoriasis; skin diseases, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

embryo loss; genetic diseases, inborn; pregnancy complications, hematologic; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease embryo loss; genetic diseases, inborn; pregnancy complications, hematologic; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; genetic diseases, inborn; kallmann syndrome; syndrome Gene Set

From GAD Gene-Disease Associations

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

breast neoplasms; genetic diseases, inborn; lymphatic metastasis; mammary neoplasms; neoplasm invasiveness Gene Set

From GAD Gene-Disease Associations

genes associated with the disease breast neoplasms; genetic diseases, inborn; lymphatic metastasis; mammary neoplasms; neoplasm invasiveness in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

genetic diseases, inborn Gene Set

From GAD Gene-Disease Associations

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

hypodontia; cleft lip; cleft palate; genetic diseases, inborn Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hypodontia; cleft lip; cleft palate; genetic diseases, inborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

genetic diseases, inborn; hearing impairment; hearing loss Gene Set

From GAD Gene-Disease Associations

genes associated with the disease genetic diseases, inborn; hearing impairment; hearing loss in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fetal diseases; nondisjunction, genetic; sex chromosome aberrations; trisomy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fetal diseases; nondisjunction, genetic; sex chromosome aberrations; trisomy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

brain ischemia; diabetes mellitus; genetic diseases, inborn; hypertension; stroke Gene Set

From GAD Gene-Disease Associations

genes associated with the disease brain ischemia; diabetes mellitus; genetic diseases, inborn; hypertension; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiomyopathy, dilated; genetic diseases, inborn Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiomyopathy, dilated; genetic diseases, inborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

genetic diseases, inborn; syndrome; tetralogy of fallot Gene Set

From GAD Gene-Disease Associations

genes associated with the disease genetic diseases, inborn; syndrome; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

genetic diseases, inborn; polycythemia vera; thrombocythemia, essential Gene Set

From GAD Gene-Disease Associations

genes associated with the disease genetic diseases, inborn; polycythemia vera; thrombocythemia, essential in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; craniosynostoses; craniosynostosis; genetic diseases, inborn Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; craniosynostoses; craniosynostosis; genetic diseases, inborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Skin Diseases, Genetic Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Skin Diseases, Genetic phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Genetic Diseases, Inborn Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Genetic Diseases, Inborn phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Hereditary cancer-predisposing syndrome:Hereditary cancer-predisposing syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary cancer-predisposing syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary cancer-predisposing syndrome:Hereditary diffuse gastric cancer Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary cancer-predisposing syndrome:Hereditary diffuse gastric cancer phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

colorectal neoplasms, hereditary nonpolyposis; hereditary nonpolyposis colorectal neoplasms; neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease colorectal neoplasms, hereditary nonpolyposis; hereditary nonpolyposis colorectal neoplasms; neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

charcot-marie-tooth disease; hereditary motor and sensory neuropathies; hereditary sensory and motor neuropathy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease charcot-marie-tooth disease; hereditary motor and sensory neuropathies; hereditary sensory and motor neuropathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

colorectal neoplasms, hereditary nonpolyposis; endometrial neoplasms; hereditary nonpolyposis colorectal neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease colorectal neoplasms, hereditary nonpolyposis; endometrial neoplasms; hereditary nonpolyposis colorectal neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

corneal dystrophies, hereditary; hereditary corneal dystrophy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease corneal dystrophies, hereditary; hereditary corneal dystrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

colorectal neoplasms, hereditary nonpolyposis; hereditary nonpolyposis colorectal neoplasms; neoplasms, second primary; rectal neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease colorectal neoplasms, hereditary nonpolyposis; hereditary nonpolyposis colorectal neoplasms; neoplasms, second primary; rectal neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

colorectal neoplasms, hereditary nonpolyposis; hereditary nonpolyposis colorectal neoplasms; microsatellite instability Gene Set

From GAD Gene-Disease Associations

genes associated with the disease colorectal neoplasms, hereditary nonpolyposis; hereditary nonpolyposis colorectal neoplasms; microsatellite instability in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

colorectal neoplasms, hereditary nonpolyposis; hereditary nonpolyposis colorectal neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease colorectal neoplasms, hereditary nonpolyposis; hereditary nonpolyposis colorectal neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hereditary nephritis; nephritis, hereditary Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hereditary nephritis; nephritis, hereditary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

corneal dystrophies, hereditary; hereditary corneal dystrophy; hernia, abdominal Gene Set

From GAD Gene-Disease Associations

genes associated with the disease corneal dystrophies, hereditary; hereditary corneal dystrophy; hernia, abdominal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

optic atrophies, hereditary; optic atrophy, autosomal dominant; optic atrophy, hereditary, leber Gene Set

From GAD Gene-Disease Associations

genes associated with the disease optic atrophies, hereditary; optic atrophy, autosomal dominant; optic atrophy, hereditary, leber in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 from the curated CTD Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 11 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 11 phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 8 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 8 phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 phenotype from the curated OMIM Gene-Disease Associations dataset.

X-linked hereditary motor and sensory neuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked hereditary motor and sensory neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Prostate Cancer, Hereditary, X-Linked 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Prostate Cancer, Hereditary, X-Linked 2 from the curated CTD Gene-Disease Associations dataset.

PROSTATE CANCER, HEREDITARY, X-LINKED 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PROSTATE CANCER, HEREDITARY, X-LINKED 1 from the curated CTD Gene-Disease Associations dataset.

{prostate cancer, hereditary, x-linked 2} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {prostate cancer, hereditary, x-linked 2} phenotype from the curated OMIM Gene-Disease Associations dataset.

antiphospholipid syndrome; arterial occlusive diseases; blood coagulation disorders, inherited; cardiomyopathy, dilated; heart defects, congenital; heart diseases; thrombophilia; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease antiphospholipid syndrome; arterial occlusive diseases; blood coagulation disorders, inherited; cardiomyopathy, dilated; heart defects, congenital; heart diseases; thrombophilia; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Facial paresis, hereditary congenital, 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Facial paresis, hereditary congenital, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Facial paresis, hereditary, congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Facial paresis, hereditary, congenital from the curated CTD Gene-Disease Associations dataset.

Hyperferritinemia, hereditary, with congenital cataracts Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hyperferritinemia, hereditary, with congenital cataracts from the curated CTD Gene-Disease Associations dataset.

Ptosis, Hereditary Congenital 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ptosis, Hereditary Congenital 1 from the curated CTD Gene-Disease Associations dataset.

Ptosis, Hereditary Congenital 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ptosis, Hereditary Congenital 2 from the curated CTD Gene-Disease Associations dataset.

ptosis, hereditary congenital, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ptosis, hereditary congenital, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

facial paresis, hereditary congenital, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the facial paresis, hereditary congenital, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

ptosis, hereditary congenital 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ptosis, hereditary congenital 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

Neovascularization, Pathologic Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neovascularization, Pathologic from the curated CTD Gene-Disease Associations dataset.

Constriction, Pathologic Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Constriction, Pathologic from the curated CTD Gene-Disease Associations dataset.

Dilatation, Pathologic Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Dilatation, Pathologic from the curated CTD Gene-Disease Associations dataset.

carcinoma, squamous cell; cervical neoplasm; neovascularization, pathologic; squamous cell carcinoma; uterine cervical neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, squamous cell; cervical neoplasm; neovascularization, pathologic; squamous cell carcinoma; uterine cervical neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neovascularization, pathologic; polycythemia vera; thrombocythemia, essential; thrombocythemia, hemorrhagic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neovascularization, pathologic; polycythemia vera; thrombocythemia, essential; thrombocythemia, hemorrhagic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neovascularization, pathologic; scleroderma, systemic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neovascularization, pathologic; scleroderma, systemic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

kidney failure, chronic; neovascularization, pathologic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease kidney failure, chronic; neovascularization, pathologic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

constriction, pathologic; graft occlusion, vascular Gene Set

From GAD Gene-Disease Associations

genes associated with the disease constriction, pathologic; graft occlusion, vascular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

constriction, pathologic; crohn disease; crohn's disease; intestinal fistula; intestinal obstruction Gene Set

From GAD Gene-Disease Associations

genes associated with the disease constriction, pathologic; crohn disease; crohn's disease; intestinal fistula; intestinal obstruction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, squamous cell; mouth neoplasms; neovascularization, pathologic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, squamous cell; mouth neoplasms; neovascularization, pathologic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

macular degeneration; neovascularization, pathologic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease macular degeneration; neovascularization, pathologic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

asthma; constriction, pathologic; Gene Set

From GAD Gene-Disease Associations

genes associated with the disease asthma; constriction, pathologic; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adenocarcinoma; esophageal neoplasms; neoplasm recurrence, local; neovascularization, pathologic; oesophageal neoplasm Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adenocarcinoma; esophageal neoplasms; neoplasm recurrence, local; neovascularization, pathologic; oesophageal neoplasm in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

pathologic gambling Gene Set

From GAD Gene-Disease Associations

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

head and neck neoplasms; laryngeal neoplasm; laryngeal neoplasms; neovascularization, pathologic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease head and neck neoplasms; laryngeal neoplasm; laryngeal neoplasms; neovascularization, pathologic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetic retinopathy; neovascularization, pathologic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetic retinopathy; neovascularization, pathologic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

constriction, pathologic; crohn disease; inflammation Gene Set

From GAD Gene-Disease Associations

genes associated with the disease constriction, pathologic; crohn disease; inflammation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

constriction, pathologic; crohn disease; crohn's disease; fibrosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease constriction, pathologic; crohn disease; crohn's disease; fibrosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; dilatation, pathologic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; dilatation, pathologic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

breast neoplasms; carcinoma, intraductal, noninfiltrating; hot flashes; neoplasm invasiveness; neovascularization, pathologic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease breast neoplasms; carcinoma, intraductal, noninfiltrating; hot flashes; neoplasm invasiveness; neovascularization, pathologic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dilatation, pathologic; mucocutaneous lymph node syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dilatation, pathologic; mucocutaneous lymph node syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adenocarcinoma; gastritis, atrophic; helicobacter infections; metaplasia; neovascularization, pathologic; stomach neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adenocarcinoma; gastritis, atrophic; helicobacter infections; metaplasia; neovascularization, pathologic; stomach neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

breast neoplasms; carcinoma; mammary neoplasms; neovascularization, pathologic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease breast neoplasms; carcinoma; mammary neoplasms; neovascularization, pathologic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

leukemia, myelogenous, chronic, bcr-abl positive; neovascularization, pathologic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease leukemia, myelogenous, chronic, bcr-abl positive; neovascularization, pathologic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

apoplexy; constriction, pathologic; stroke Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; constriction, pathologic; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neovascularization, pathologic; retinal vasculitis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neovascularization, pathologic; retinal vasculitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

myeloproliferative disorders; neovascularization, pathologic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease myeloproliferative disorders; neovascularization, pathologic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dilatation, pathologic; tetralogy of fallot Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dilatation, pathologic; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

colonic neoplasms; neoplasm recurrence, local; neovascularization, pathologic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease colonic neoplasms; neoplasm recurrence, local; neovascularization, pathologic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adenoma; colonic neoplasms; colonic polyps; dilatation, pathologic; eosinophilia; hyperplasia; precancerous conditions Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adenoma; colonic neoplasms; colonic polyps; dilatation, pathologic; eosinophilia; hyperplasia; precancerous conditions in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

pathologic Gene Set

From GeneRIF Biological Term Annotations

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

generalized osteoporosis with pathologic fractures Gene Set

From HPO Gene-Disease Associations

genes associated with the generalized osteoporosis with pathologic fractures phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

pathologic fracture Gene Set

From HPO Gene-Disease Associations

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

Neovascularization, Pathologic Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Neovascularization, Pathologic phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Bone Demineralization, Pathologic Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Bone Demineralization, Pathologic phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Constriction, Pathologic Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Constriction, Pathologic phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Dilatation, Pathologic Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Dilatation, Pathologic phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Eye Diseases Gene Set

From CTD Gene-Disease Associations

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

activated protein c resistance; eye diseases; hyperhomocysteinemia; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; eye diseases; hyperhomocysteinemia; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

eye diseases Gene Set

From GAD Gene-Disease Associations

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

arthritis, rheumatoid; corneal diseases; dry eye syndromes Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arthritis, rheumatoid; corneal diseases; dry eye syndromes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

eye diseases; glomerulosclerosis, focal segmental; nephrotic syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease eye diseases; glomerulosclerosis, focal segmental; nephrotic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

behcet syndrome; eye diseases; Gene Set

From GAD Gene-Disease Associations

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

eye diseases; stevens-johnson syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease eye diseases; stevens-johnson syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Eye Diseases Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Congenital adrenal hypoplasia, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital adrenal hypoplasia, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital short bowel syndrome, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital short bowel syndrome, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia X-linked phenotype from the curated ClinVar Gene-Phenotype 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.

ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED from the curated CTD Gene-Disease Associations dataset.

Neutropenia, Severe Congenital, X-Linked Gene Set

From CTD Gene-Disease Associations

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

Hypertrichosis congenital generalized X-linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypertrichosis congenital generalized X-linked from the curated CTD Gene-Disease Associations dataset.

congenital heart defects, nonsyndromic, 1, x-linked Gene Set

From OMIM Gene-Disease Associations

genes associated with the congenital heart defects, nonsyndromic, 1, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.

neutropenia, severe congenital, x-linked Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutropenia, severe congenital, x-linked 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.

night blindness, congenital stationary (complete), 1a, x-linked Gene Set

From OMIM Gene-Disease Associations

genes associated with the night blindness, congenital stationary (complete), 1a, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.

night blindness, congenital stationary (incomplete), 2a, x-linked Gene Set

From OMIM Gene-Disease Associations

genes associated with the night blindness, congenital stationary (incomplete), 2a, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.

gastrointestinal diseases; henoch-schoenlein purpura; joint diseases; kidney diseases; proteinuria; purpura, schoenlein-henoch Gene Set

From GAD Gene-Disease Associations

genes associated with the disease gastrointestinal diseases; henoch-schoenlein purpura; joint diseases; kidney diseases; proteinuria; purpura, schoenlein-henoch in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alveolar bone loss; mandibular diseases; maxillary diseases; periodontal diseases; tooth loss Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alveolar bone loss; mandibular diseases; maxillary diseases; periodontal diseases; tooth loss in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, sickle cell; kidney diseases; lung diseases; nervous system diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, sickle cell; kidney diseases; lung diseases; nervous system diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bone neoplasms; gastrointestinal diseases; hematologic diseases; kidney diseases; osteosarcoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bone neoplasms; gastrointestinal diseases; hematologic diseases; kidney diseases; osteosarcoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alcoholic liver diseases; alcoholism; liver diseases; liver diseases, alcoholic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcoholic liver diseases; alcoholism; liver diseases; liver diseases, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiovascular diseases; infant, premature, diseases; respiratory tract diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiovascular diseases; infant, premature, diseases; respiratory tract diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; heart defects, congenital; syndrome Gene Set

From GAD Gene-Disease Associations

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

atrial septal defects; cardiomyopathy, dilated; congenital heart defects; dcm - dilated cardiomyopathy; heart defects, congenital; heart septal defects, atrial Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atrial septal defects; cardiomyopathy, dilated; congenital heart defects; dcm - dilated cardiomyopathy; heart defects, congenital; heart septal defects, atrial in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; folic acid deficiency; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; folic acid deficiency; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adrenal hyperplasia, congenital; congenital adrenal hyperplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adrenal hyperplasia, congenital; congenital adrenal hyperplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; heart defects, congenital; obesity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; heart defects, congenital; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

birth weight; congenital abnormalities; heart defects, congenital; postoperative complications; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease birth weight; congenital abnormalities; heart defects, congenital; postoperative complications; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; coronary disease; coronary heart disease; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; coronary disease; coronary heart disease; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cleft lip; cleft palate; congenital heart defects; heart defects, congenital; hyperhomocysteinemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cleft lip; cleft palate; congenital heart defects; heart defects, congenital; hyperhomocysteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; heart defects, congenital; ventricular outflow obstruction Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; heart defects, congenital; ventricular outflow obstruction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atrial septal defects; congenital heart defects; heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular; ventricular septal defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atrial septal defects; congenital heart defects; heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular; ventricular septal defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body weight; congenital heart defects; growth disorders; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body weight; congenital heart defects; growth disorders; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; down syndrome; heart defects, congenital; heart septal defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; down syndrome; heart defects, congenital; heart septal defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; coloboma; congenital heart defects; disease models, animal; facial paralysis; heart defects, congenital; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; coloboma; congenital heart defects; disease models, animal; facial paralysis; heart defects, congenital; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; heart defects, congenital; heart septal defects; tetralogy of fallot Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; heart defects, congenital; heart septal defects; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

aortic coarctation; aortic valve stenosis; congenital heart defects; discrete subaortic stenosis; heart defects, congenital; hypoplastic left heart syndrome; pulmonary valve stenosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease aortic coarctation; aortic valve stenosis; congenital heart defects; discrete subaortic stenosis; heart defects, congenital; hypoplastic left heart syndrome; pulmonary valve stenosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adrenal hyperplasia, congenital; congenital adrenal hyperplasia; virilism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adrenal hyperplasia, congenital; congenital adrenal hyperplasia; virilism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Hereditary Autoinflammatory Diseases Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hereditary Autoinflammatory Diseases from the curated CTD Gene-Disease Associations dataset.

arteriovenous malformations; liver diseases; telangiectasia, hereditary hemorrhagic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arteriovenous malformations; liver diseases; telangiectasia, hereditary hemorrhagic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hereditary autoinflammatory diseases; lymphadenitis; pharyngitis; stomatitis, aphthous; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hereditary autoinflammatory diseases; lymphadenitis; pharyngitis; stomatitis, aphthous; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Hereditary Autoinflammatory Diseases Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Hereditary Autoinflammatory Diseases phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Hereditary Central Nervous System Demyelinating Diseases Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Hereditary Central Nervous System Demyelinating Diseases phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Cataract, microphthalmia and nystagmus Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract, microphthalmia and nystagmus phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Episodic ataxia with nystagmus Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Episodic ataxia with nystagmus from the curated CTD Gene-Disease Associations dataset.

spontaneous ocular nystagmus Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

vestibular nystagmus Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

benign paroxysmal positional nystagmus Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

dissociated nystagmus Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

nystagmus Gene Set

From GeneRIF Biological Term Annotations

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

horizontal nystagmus Gene Set

From HPO Gene-Disease Associations

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

nystagmus-induced head nodding Gene Set

From HPO Gene-Disease Associations

genes associated with the nystagmus-induced head nodding phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

gaze-evoked horizontal nystagmus Gene Set

From HPO Gene-Disease Associations

genes associated with the gaze-evoked horizontal nystagmus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

rotary nystagmus Gene Set

From HPO Gene-Disease Associations

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

horizontal pendular nystagmus Gene Set

From HPO Gene-Disease Associations

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

nystagmus Gene Set

From HPO Gene-Disease Associations

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

gaze-evoked nystagmus Gene Set

From HPO Gene-Disease Associations

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

pendular nystagmus Gene Set

From HPO Gene-Disease Associations

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

vertical nystagmus Gene Set

From HPO Gene-Disease Associations

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

downbeat nystagmus Gene Set

From HPO Gene-Disease Associations

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

mental retardation, with or without nystagmus Gene Set

From OMIM Gene-Disease Associations

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

Non-syndromic genetic deafness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Non-syndromic genetic deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Genetic Predisposition to Disease Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Genetic Predisposition to Disease from the curated CTD Gene-Disease Associations dataset.

Translocation, Genetic Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Translocation, Genetic from the curated CTD Gene-Disease Associations dataset.

Recombination, Genetic Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Recombination, Genetic in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

autosomal genetic disease Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

genetic disease Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

autosomal genetic disease Gene Set

From DISEASES Experimental Gene-Disease Assocation Evidence Scores

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

genetic disease Gene Set

From DISEASES Experimental Gene-Disease Assocation Evidence Scores

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

autosomal genetic disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

genetic disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

down syndrome; hirschsprung disease; nondisjunction, genetic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease down syndrome; hirschsprung disease; nondisjunction, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

down syndrome; nondisjunction, genetic Gene Set

From GAD Gene-Disease Associations

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

chromosome aberrations; chromosome abnormality; cystic fibrosis; klinefelter syndrome; klinefelter's syndrome; oligospermia; sex chromosome aberrations; translocation, genetic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; cystic fibrosis; klinefelter syndrome; klinefelter's syndrome; oligospermia; sex chromosome aberrations; translocation, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

lymphoma, non-hodgkin; lymphoma, non-hodgkin's; translocation, genetic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease lymphoma, non-hodgkin; lymphoma, non-hodgkin's; translocation, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

recombination, genetic Gene Set

From GAD Gene-Disease Associations

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

genetic predisposition to disease; mouth neoplasms; neoplasms, squamous cell Gene Set

From GAD Gene-Disease Associations

genes associated with the disease genetic predisposition to disease; mouth neoplasms; neoplasms, squamous cell in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

genetic predisposition to disease; multiple myeloma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease genetic predisposition to disease; multiple myeloma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

genetic markers Gene Set

From GAD Gene-Disease Associations

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

leukemia, lymphocytic, acute, l1; leukemia, lymphocytic, acute, l2; leukemia, pre-b-cell; precursor b-cell lymphoblastic leukemia-lymphoma; precursor cell lymphoblastic leukemia-lymphoma; translocation, genetic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease leukemia, lymphocytic, acute, l1; leukemia, lymphocytic, acute, l2; leukemia, pre-b-cell; precursor b-cell lymphoblastic leukemia-lymphoma; precursor cell lymphoblastic leukemia-lymphoma; translocation, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; translocation, genetic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; translocation, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anticipation, genetic; myocardial ischemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anticipation, genetic; myocardial ischemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

genetic predisposition to disease Gene Set

From GAD Gene-Disease Associations

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

genetic polymorphisms Gene Set

From GAD Gene-Disease Associations

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

brain ischemia; genetic predisposition to disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease brain ischemia; genetic predisposition to disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

lymphoma, large b-cell, diffuse; lymphoma, large-cell, diffuse; translocation, genetic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease lymphoma, large b-cell, diffuse; lymphoma, large-cell, diffuse; translocation, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary restenosis; translocation, genetic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary restenosis; translocation, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

genetic polymorphism Gene Set

From GAD Gene-Disease Associations

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

fam hyperbetalipoproteinaemia; hyperlipoproteinemia type ii; translocation, genetic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fam hyperbetalipoproteinaemia; hyperlipoproteinemia type ii; translocation, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes complications; diabetes mellitus, type 2; genetic predisposition to disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes complications; diabetes mellitus, type 2; genetic predisposition to disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

leukemia, myeloid; translocation, genetic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease leukemia, myeloid; translocation, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic retinopathy; genetic predisposition to disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic retinopathy; genetic predisposition to disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; chromosome deletion; translocation, genetic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; chromosome deletion; translocation, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cyp1a1 genetic polymorphisms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cyp1a1 genetic polymorphisms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

genetic polymorphism of cytochrome p450 2a6 and the body status of iron stores Gene Set

From GAD Gene-Disease Associations

genes associated with the disease genetic polymorphism of cytochrome p450 2a6 and the body status of iron stores in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary artery disease; genetic predisposition to disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary artery disease; genetic predisposition to disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome breakage; cleft lip; cleft palate; translocation, genetic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome breakage; cleft lip; cleft palate; translocation, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome inversion; leukemia, myeloid; translocation, genetic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome inversion; leukemia, myeloid; translocation, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

leukemia, myeloid, acute; translocation, genetic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease leukemia, myeloid, acute; translocation, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

genetic Gene Set

From GeneRIF Biological Term Annotations

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

regulation of genetic imprinting Gene Set

From GO Biological Process Annotations

genes participating in the regulation of genetic imprinting biological process from the curated GO Biological Process Annotations dataset.

regulation of gene expression by genetic imprinting Gene Set

From GO Biological Process Annotations

genes participating in the regulation of gene expression by genetic imprinting biological process from the curated GO Biological Process Annotations dataset.

genetic imprinting Gene Set

From GO Biological Process Annotations

genes participating in the genetic imprinting biological process from the curated GO Biological Process Annotations dataset.

autosomal genetic disease Gene Set

From GWASdb SNP-Disease Associations

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

genetic disease Gene Set

From GWASdb SNP-Disease Associations

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

genetic anticipation Gene Set

From HPO Gene-Disease Associations

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

genetic anticipation with paternal anticipation bias Gene Set

From HPO Gene-Disease Associations

genes associated with the genetic anticipation with paternal anticipation bias phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Genetic Predisposition to Disease Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Genetic Predisposition to Disease phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Anticipation, Genetic Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Anticipation, Genetic phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Genetic Determinism Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Nondisjunction, Genetic Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Nondisjunction, Genetic phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Translocation, Genetic Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Translocation, Genetic phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Genetic suppressor element-like Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Genetic suppressor element-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

genetic imprinting Gene Set

From MPO Gene-Phenotype Associations

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

transcription-genetic Gene Set

From Phosphosite Textmining Biological Term Annotations

proteins co-occuring with the biological term transcription-genetic in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset.

X-Linked Combined Immunodeficiency Diseases Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease X-Linked Combined Immunodeficiency Diseases from the curated CTD Gene-Disease Associations dataset.

brain diseases; mental retardation, x-linked Gene Set

From GAD Gene-Disease Associations

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

adrenal hyperplasia, congenital; autoimmune diseases; opportunistic infections; recurrence Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adrenal hyperplasia, congenital; autoimmune diseases; opportunistic infections; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Skin/hair/eye pigmentation, variation in, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Skin/hair/eye pigmentation, variation in, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Skin/hair/eye pigmentation, variation in, 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Skin/hair/eye pigmentation, variation in, 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Skin/hair/eye pigmentation, variation in, 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Skin/hair/eye pigmentation, variation in, 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Skin/hair/eye pigmentation, variation in, 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Skin/hair/eye pigmentation, variation in, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Skin/hair/eye pigmentation, variation in, 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Skin/hair/eye pigmentation, variation in, 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Skin/hair/eye pigmentation, variation in, 10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Skin/hair/eye pigmentation, variation in, 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Skin/hair/eye pigmentation, variation in, 11 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Skin/hair/eye pigmentation, variation in, 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Muscle eye brain disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Muscle eye brain disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fish-eye disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fish-eye disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Eye Abnormalities Gene Set

From CTD Gene-Disease Associations

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

Aland Island Eye Disease Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Aland Island Eye Disease from the curated CTD Gene-Disease Associations dataset.

Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma from the curated CTD Gene-Disease Associations dataset.

Dry Eye Syndromes Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Dry Eye Syndromes from the curated CTD Gene-Disease Associations dataset.

Eye Pain Gene Set

From CTD Gene-Disease Associations

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

Eye Infections, Bacterial Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Eye Infections, Bacterial from the curated CTD Gene-Disease Associations dataset.

Eye Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Eye in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

Eye Color Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Eye Color in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

eye disease Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

eye and adnexa disease Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

eye disease Gene Set

From DISEASES Experimental Gene-Disease Assocation Evidence Scores

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

eye and adnexa disease Gene Set

From DISEASES Experimental Gene-Disease Assocation Evidence Scores

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

eye disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

eye degenerative disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

eye lymphoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

eye carcinoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

shipyard eye Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

dry eye syndrome Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

aland island eye disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

eye accommodation disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

eye and adnexa disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

eye color Gene Set

From GAD Gene-Disease Associations

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

eye abnormalities Gene Set

From GAD Gene-Disease Associations

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

anophthalmos; coloboma; eye abnormalities; microphthalmos Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anophthalmos; coloboma; eye abnormalities; microphthalmos in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

aphakia; eye abnormalities; microphthalmos Gene Set

From GAD Gene-Disease Associations

genes associated with the disease aphakia; eye abnormalities; microphthalmos in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

eye movement disturbances Gene Set

From GAD Gene-Disease Associations

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

dry eye syndromes; Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dry eye syndromes; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

eye Gene Set

From GAD Gene-Disease Associations

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

eye abnormalities; glaucoma, angle-closure Gene Set

From GAD Gene-Disease Associations

genes associated with the disease eye abnormalities; glaucoma, angle-closure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fish eye disease Gene Set

From GAD Gene-Disease Associations

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

corneal ulcer; eye infections, bacterial; Gene Set

From GAD Gene-Disease Associations

genes associated with the disease corneal ulcer; eye infections, bacterial; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

smooth pursuit eye movement abnormality Gene Set

From GAD Gene-Disease Associations

genes associated with the disease smooth pursuit eye movement abnormality in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

eye Gene Set

From GeneRIF Biological Term Annotations

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

regulation of eye pigmentation Gene Set

From GO Biological Process Annotations

genes participating in the regulation of eye pigmentation biological process from the curated GO Biological Process Annotations dataset.

embryonic eye morphogenesis Gene Set

From GO Biological Process Annotations

genes participating in the embryonic eye morphogenesis biological process from the curated GO Biological Process Annotations dataset.

eye photoreceptor cell fate commitment Gene Set

From GO Biological Process Annotations

genes participating in the eye photoreceptor cell fate commitment biological process from the curated GO Biological Process Annotations dataset.

retina development in camera-type eye Gene Set

From GO Biological Process Annotations

genes participating in the retina development in camera-type eye biological process from the curated GO Biological Process Annotations dataset.

negative regulation of eye pigmentation Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of eye pigmentation biological process from the curated GO Biological Process Annotations dataset.

eye pigment granule organization Gene Set

From GO Biological Process Annotations

genes participating in the eye pigment granule organization biological process from the curated GO Biological Process Annotations dataset.

post-embryonic eye morphogenesis Gene Set

From GO Biological Process Annotations

genes participating in the post-embryonic eye morphogenesis biological process from the curated GO Biological Process Annotations dataset.

eye photoreceptor cell differentiation Gene Set

From GO Biological Process Annotations

genes participating in the eye photoreceptor cell differentiation biological process from the curated GO Biological Process Annotations dataset.

eye morphogenesis Gene Set

From GO Biological Process Annotations

genes participating in the eye morphogenesis biological process from the curated GO Biological Process Annotations dataset.

post-embryonic retina morphogenesis in camera-type eye Gene Set

From GO Biological Process Annotations

genes participating in the post-embryonic retina morphogenesis in camera-type eye biological process from the curated GO Biological Process Annotations dataset.

eyelid development in camera-type eye Gene Set

From GO Biological Process Annotations

genes participating in the eyelid development in camera-type eye biological process from the curated GO Biological Process Annotations dataset.

camera-type eye photoreceptor cell fate commitment Gene Set

From GO Biological Process Annotations

genes participating in the camera-type eye photoreceptor cell fate commitment biological process from the curated GO Biological Process Annotations dataset.

positive regulation of eye pigmentation Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of eye pigmentation biological process from the curated GO Biological Process Annotations dataset.

optic cup morphogenesis involved in camera-type eye development Gene Set

From GO Biological Process Annotations

genes participating in the optic cup morphogenesis involved in camera-type eye development biological process from the curated GO Biological Process Annotations dataset.

embryonic camera-type eye morphogenesis Gene Set

From GO Biological Process Annotations

genes participating in the embryonic camera-type eye morphogenesis biological process from the curated GO Biological Process Annotations dataset.

eye pigmentation Gene Set

From GO Biological Process Annotations

genes participating in the eye pigmentation biological process from the curated GO Biological Process Annotations dataset.

compound eye corneal lens development Gene Set

From GO Biological Process Annotations

genes participating in the compound eye corneal lens development biological process from the curated GO Biological Process Annotations dataset.

cornea development in camera-type eye Gene Set

From GO Biological Process Annotations

genes participating in the cornea development in camera-type eye biological process from the curated GO Biological Process Annotations dataset.

eye pigment metabolic process Gene Set

From GO Biological Process Annotations

genes participating in the eye pigment metabolic process biological process from the curated GO Biological Process Annotations dataset.

camera-type eye development Gene Set

From GO Biological Process Annotations

genes participating in the camera-type eye development biological process from the curated GO Biological Process Annotations dataset.

embryonic retina morphogenesis in camera-type eye Gene Set

From GO Biological Process Annotations

genes participating in the embryonic retina morphogenesis in camera-type eye biological process from the curated GO Biological Process Annotations dataset.

camera-type eye morphogenesis Gene Set

From GO Biological Process Annotations

genes participating in the camera-type eye morphogenesis biological process from the curated GO Biological Process Annotations dataset.

eye pigment biosynthetic process Gene Set

From GO Biological Process Annotations

genes participating in the eye pigment biosynthetic process biological process from the curated GO Biological Process Annotations dataset.

embryonic camera-type eye development Gene Set

From GO Biological Process Annotations

genes participating in the embryonic camera-type eye development biological process from the curated GO Biological Process Annotations dataset.

retina vasculature development in camera-type eye Gene Set

From GO Biological Process Annotations

genes participating in the retina vasculature development in camera-type eye biological process from the curated GO Biological Process Annotations dataset.

camera-type eye photoreceptor cell differentiation Gene Set

From GO Biological Process Annotations

genes participating in the camera-type eye photoreceptor cell differentiation biological process from the curated GO Biological Process Annotations dataset.

retina morphogenesis in camera-type eye Gene Set

From GO Biological Process Annotations

genes participating in the retina morphogenesis in camera-type eye biological process from the curated GO Biological Process Annotations dataset.

lens development in camera-type eye Gene Set

From GO Biological Process Annotations

genes participating in the lens development in camera-type eye biological process from the curated GO Biological Process Annotations dataset.

embryonic camera-type eye formation Gene Set

From GO Biological Process Annotations

genes participating in the embryonic camera-type eye formation biological process from the curated GO Biological Process Annotations dataset.

regulation of retina development in camera-type eye Gene Set

From GO Biological Process Annotations

genes participating in the regulation of retina development in camera-type eye biological process from the curated GO Biological Process Annotations dataset.

eye development Gene Set

From GO Biological Process Annotations

genes participating in the eye development biological process from the curated GO Biological Process Annotations dataset.

retina vasculature morphogenesis in camera-type eye Gene Set

From GO Biological Process Annotations

genes participating in the retina vasculature morphogenesis in camera-type eye biological process from the curated GO Biological Process Annotations dataset.

lens morphogenesis in camera-type eye Gene Set

From GO Biological Process Annotations

genes participating in the lens morphogenesis in camera-type eye biological process from the curated GO Biological Process Annotations dataset.

optic cup formation involved in camera-type eye development Gene Set

From GO Biological Process Annotations

genes participating in the optic cup formation involved in camera-type eye development biological process from the curated GO Biological Process Annotations dataset.

eye photoreceptor cell development Gene Set

From GO Biological Process Annotations

genes participating in the eye photoreceptor cell development biological process from the curated GO Biological Process Annotations dataset.

optic placode formation involved in camera-type eye formation Gene Set

From GO Biological Process Annotations

genes participating in the optic placode formation involved in camera-type eye formation biological process from the curated GO Biological Process Annotations dataset.

post-embryonic camera-type eye morphogenesis Gene Set

From GO Biological Process Annotations

genes participating in the post-embryonic camera-type eye morphogenesis biological process from the curated GO Biological Process Annotations dataset.

compound eye development Gene Set

From GO Biological Process Annotations

genes participating in the compound eye development biological process from the curated GO Biological Process Annotations dataset.

lens induction in camera-type eye Gene Set

From GO Biological Process Annotations

genes participating in the lens induction in camera-type eye biological process from the curated GO Biological Process Annotations dataset.

post-embryonic camera-type eye development Gene Set

From GO Biological Process Annotations

genes participating in the post-embryonic camera-type eye development biological process from the curated GO Biological Process Annotations dataset.

structural constituent of eye lens Gene Set

From GO Molecular Function Annotations

genes performing the structural constituent of eye lens molecular function from the curated GO Molecular Function Annotations dataset.

Eye color traits Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Eye color traits phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Eye color Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Eye color phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

eye disease Gene Set

From GWASdb SNP-Disease Associations

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

eye and adnexa disease Gene Set

From GWASdb SNP-Disease Associations

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

abnormal eye physiology Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the abnormal eye physiology phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

abnormality of the posterior segment of the eye Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of the posterior segment of the eye phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

abnormality of eye movement Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of eye movement phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

abnormality of the anterior segment of the eye Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of the anterior segment of the eye phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

abnormal eye morphology Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the abnormal eye morphology phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

abnormality of the vasculature of the eye Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of the vasculature of the eye phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

abnormality of the eye Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of the eye phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

aplasia/hypoplasia affecting the eye Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia affecting the eye phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

neoplasm of the eye Gene Set

From HPO Gene-Disease Associations

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

abnormality of the anterior segment of the eye Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the anterior segment of the eye phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of saccadic eye movements Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of saccadic eye movements phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

slow saccadic eye movements Gene Set

From HPO Gene-Disease Associations

genes associated with the slow saccadic eye movements phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

deeply set eye Gene Set

From HPO Gene-Disease Associations

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

abnormality of the eye Gene Set

From HPO Gene-Disease Associations

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

inflammatory abnormality of the eye Gene Set

From HPO Gene-Disease Associations

genes associated with the inflammatory abnormality of the eye phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

eye of the tiger anomaly of globus pallidus Gene Set

From HPO Gene-Disease Associations

genes associated with the eye of the tiger anomaly of globus pallidus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

bull's eye maculopathy Gene Set

From HPO Gene-Disease Associations

genes associated with the bull's eye maculopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormal eye physiology Gene Set

From HPO Gene-Disease Associations

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

aplasia/hypoplasia affecting the anterior segment of the eye Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia affecting the anterior segment of the eye phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hemorrhage of the eye Gene Set

From HPO Gene-Disease Associations

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

uncontrolled eye movements Gene Set

From HPO Gene-Disease Associations

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

poor hand-eye coordination Gene Set

From HPO Gene-Disease Associations

genes associated with the poor hand-eye coordination phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

anterior segment of eye aplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the anterior segment of eye aplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormal conjugate eye movement Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormal conjugate eye movement phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hamartoma of the eye Gene Set

From HPO Gene-Disease Associations

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

paroxysmal involuntary eye movements Gene Set

From HPO Gene-Disease Associations

genes associated with the paroxysmal involuntary eye movements phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

eye poking Gene Set

From HPO Gene-Disease Associations

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

abnormal eye morphology Gene Set

From HPO Gene-Disease Associations

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

abnormality of the vasculature of the eye Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the vasculature of the eye phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

poor eye contact Gene Set

From HPO Gene-Disease Associations

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

abnormal rapid eye movement (rem) sleep Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormal rapid eye movement (rem) sleep phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the posterior segment of the eye Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the posterior segment of the eye phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.