Klinefelter Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0022735
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Genes

142 genes associated with the disease Klinefelter Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AFP alpha-fetoprotein
AMH anti-Mullerian hormone
ANOS1 anosmin 1
AOC1 amine oxidase, copper containing 1
AR androgen receptor
ARHGEF7 Rho guanine nucleotide exchange factor (GEF) 7
ASCC1 activating signal cointegrator 1 complex subunit 1
AURKC aurora kinase C
AXL AXL receptor tyrosine kinase
AZGP1 alpha-2-glycoprotein 1, zinc-binding
BBS1 Bardet-Biedl syndrome 1
BECN1 beclin 1, autophagy related
BRCA2 breast cancer 2, early onset
BRD2 bromodomain containing 2
CCDC141 coiled-coil domain containing 141
CD274 CD274 molecule
CD40 CD40 molecule, TNF receptor superfamily member 5
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHD7 chromodomain helicase DNA binding protein 7
CP ceruloplasmin (ferroxidase)
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
DAZ1 deleted in azoospermia 1
DLK1 delta-like 1 homolog (Drosophila)
EBP emopamil binding protein (sterol isomerase)
EPO erythropoietin
ESR2 estrogen receptor 2 (ER beta)
ESRRB estrogen-related receptor beta
F2 coagulation factor II (thrombin)
F2R coagulation factor II (thrombin) receptor
F5 coagulation factor V (proaccelerin, labile factor)
FGF10 fibroblast growth factor 10
FGF17 fibroblast growth factor 17
FGF2 fibroblast growth factor 2 (basic)
FGF3 fibroblast growth factor 3
FGF8 fibroblast growth factor 8 (androgen-induced)
FGF9 fibroblast growth factor 9
FGFR1 fibroblast growth factor receptor 1
FMR1 fragile X mental retardation 1
FSHB follicle stimulating hormone, beta polypeptide
G3BP1 GTPase activating protein (SH3 domain) binding protein 1
GGN gametogenetin
GH1 growth hormone 1
GJA1 gap junction protein, alpha 1, 43kDa
GK glycerol kinase
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
GNRHR gonadotropin-releasing hormone receptor
GPER1 G protein-coupled estrogen receptor 1
HENMT1 HEN1 methyltransferase homolog 1 (Arabidopsis)
IGF1 insulin-like growth factor 1 (somatomedin C)
IGSF10 immunoglobulin superfamily, member 10
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL1RAPL1 interleukin 1 receptor accessory protein-like 1
IL4 interleukin 4
INHA inhibin, alpha
INHBA inhibin, beta A
INSL3 insulin-like 3 (Leydig cell)
IQCB1 IQ motif containing B1
JAK2 Janus kinase 2
JTB jumping translocation breakpoint
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KDM5C lysine (K)-specific demethylase 5C
KDM6A lysine (K)-specific demethylase 6A
KISS1 KiSS-1 metastasis-suppressor
KISS1R KISS1 receptor
KLK3 kallikrein-related peptidase 3
KRT18 keratin 18, type I
LDOC1 leucine zipper, down-regulated in cancer 1
LEP leptin
LEPR leptin receptor
LHB luteinizing hormone beta polypeptide
LHCGR luteinizing hormone/choriogonadotropin receptor
MAOA monoamine oxidase A
MC4R melanocortin 4 receptor
MECP2 methyl CpG binding protein 2
MPZ myelin protein zero
MSTN myostatin
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MUL1 mitochondrial E3 ubiquitin protein ligase 1
NDN necdin, melanoma antigen (MAGE) family member
NEUROG3 neurogenin 3
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NPEPPS aminopeptidase puromycin sensitive
NR0B1 nuclear receptor subfamily 0, group B, member 1
NR1I2 nuclear receptor subfamily 1, group I, member 2
NR5A1 nuclear receptor subfamily 5, group A, member 1
NRP1 neuropilin 1
NRP2 neuropilin 2
NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor
OTC ornithine carbamoyltransferase
PARK2 parkin RBR E3 ubiquitin protein ligase
PCDH19 protocadherin 19
PDE5A phosphodiesterase 5A, cGMP-specific
PLAG1 pleiomorphic adenoma gene 1
PMP22 peripheral myelin protein 22
PNPLA6 patatin-like phospholipase domain containing 6
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
POLR3B polymerase (RNA) III (DNA directed) polypeptide B
POMC proopiomelanocortin
PRL prolactin
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PROP1 PROP paired-like homeobox 1
PROS1 protein S (alpha)
PSAT1 phosphoserine aminotransferase 1
PTHLH parathyroid hormone-like hormone
QPCT glutaminyl-peptide cyclotransferase
RABGAP1L RAB GTPase activating protein 1-like
RAD9A RAD9 homolog A (S. pombe)
RNF216 ring finger protein 216
S100A4 S100 calcium binding protein A4
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SERPINA4 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SHBG sex hormone-binding globulin
SHOX short stature homeobox
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SOAT1 sterol O-acyltransferase 1
SOST sclerostin
SOX2 SRY (sex determining region Y)-box 2
SOX9 SRY (sex determining region Y)-box 9
SRY sex determining region Y
SST somatostatin
STAR steroidogenic acute regulatory protein
STS steroid sulfatase (microsomal), isozyme S
TAC3 tachykinin 3
TACR3 tachykinin receptor 3
TLR7 toll-like receptor 7
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TRH thyrotropin-releasing hormone
TUBB3 tubulin, beta 3 class III
TYRO3 TYRO3 protein tyrosine kinase
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
USH2A Usher syndrome 2A (autosomal recessive, mild)
VAMP7 vesicle-associated membrane protein 7
VTN vitronectin
WDHD1 WD repeat and HMG-box DNA binding protein 1
WDR11 WD repeat domain 11
ZNF645 zinc finger protein 645