Turner Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description No OMIM mapping, confirmed by DO. [LS]. (Human Disease Ontology, DOID_3491)
External Link https://www.disgenet.org/browser/0/1/0/C0041408
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Genes

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

Symbol Name
ADIPOQ adiponectin, C1Q and collagen domain containing
AFP alpha-fetoprotein
AMELX amelogenin, X-linked
AMH anti-Mullerian hormone
ANOS1 anosmin 1
APOA1 apolipoprotein A-I
AR androgen receptor
ARSL arylsulfatase L
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
BCL2L11 BCL2-like 11 (apoptosis facilitator)
BDNF brain-derived neurotrophic factor
BGN biglycan
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRD2 bromodomain containing 2
CAT catalase
CD38 CD38 molecule
CDK4 cyclin-dependent kinase 4
CDX2 caudal type homeobox 2
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous)
CRP C-reactive protein, pentraxin-related
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CSF2RA colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
DAZ1 deleted in azoospermia 1
DHX37 DEAH (Asp-Glu-Ala-His) box polypeptide 37
DMD dystrophin
DMRT1 doublesex and mab-3 related transcription factor 1
DMRT2 doublesex and mab-3 related transcription factor 2
EFHC2 EF-hand domain (C-terminal) containing 2
EGFR epidermal growth factor receptor
EPHA2 EPH receptor A2
ESR1 estrogen receptor 1
F2R coagulation factor II (thrombin) receptor
FANCA Fanconi anemia, complementation group A
FGF9 fibroblast growth factor 9
FOXP3 forkhead box P3
GAPDH glyceraldehyde-3-phosphate dehydrogenase
GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
GCG glucagon
GCH1 GTP cyclohydrolase 1
GDF9 growth differentiation factor 9
GH1 growth hormone 1
GHR growth hormone receptor
GLS glutaminase
GNAS GNAS complex locus
GRB10 growth factor receptor-bound protein 10
H2AX H2A.X variant histone
HLA-A major histocompatibility complex, class I, A
HLA-C major histocompatibility complex, class I, C
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HRAS Harvey rat sarcoma viral oncogene homolog
IFNA1 interferon, alpha 1
IFNA13 interferon, alpha 13
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF2 insulin-like growth factor 2
IGFALS insulin-like growth factor binding protein, acid labile subunit
IGFBP3 insulin-like growth factor binding protein 3
IL3 interleukin 3
IL3RA interleukin 3 receptor, alpha (low affinity)
INPPL1 inositol polyphosphate phosphatase-like 1
INS insulin
KDM6A lysine (K)-specific demethylase 6A
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KRAS Kirsten rat sarcoma viral oncogene homolog
LGALS13 lectin, galactoside-binding, soluble, 13
LHX9 LIM homeobox 9
LPA lipoprotein, Lp(a)
MAMLD1 mastermind-like domain containing 1
MAOB monoamine oxidase B
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MBD2 methyl-CpG binding domain protein 2
MBL2 mannose-binding lectin (protein C) 2, soluble
MCL1 myeloid cell leukemia 1
MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1
MMP1 matrix metallopeptidase 1
MOGS mannosyl-oligosaccharide glucosidase
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MYO9B myosin IXB
MYOD1 myogenic differentiation 1
NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
NIPBL Nipped-B homolog (Drosophila)
NOS2 nitric oxide synthase 2, inducible
NR0B1 nuclear receptor subfamily 0, group B, member 1
NR1I2 nuclear receptor subfamily 1, group I, member 2
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NR5A1 nuclear receptor subfamily 5, group A, member 1
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NT5E 5'-nucleotidase, ecto (CD73)
PAICS phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase
PAPPA pregnancy-associated plasma protein A, pappalysin 1
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PGD phosphogluconate dehydrogenase
PHPT1 phosphohistidine phosphatase 1
POMC proopiomelanocortin
POU5F1 POU class 5 homeobox 1
PPIG peptidylprolyl isomerase G (cyclophilin G)
PPP2R3C protein phosphatase 2, regulatory subunit B'', gamma
PTH parathyroid hormone
PTPN1 protein tyrosine phosphatase, non-receptor type 1
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RAD21 RAD21 homolog (S. pombe)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RARRES2 retinoic acid receptor responder (tazarotene induced) 2
RBM45 RNA binding motif protein 45
RFC1 replication factor C (activator 1) 1, 145kDa
RPS2 ribosomal protein S2
RPS4X ribosomal protein S4, X-linked
RPS4Y1 ribosomal protein S4, Y-linked 1
RS1 retinoschisin 1
SCN5A sodium channel, voltage gated, type V alpha subunit
SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
SHBG sex hormone-binding globulin
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SHOX short stature homeobox
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SOCS2 suppressor of cytokine signaling 2
SOD1 superoxide dismutase 1, soluble
SOD2 superoxide dismutase 2, mitochondrial
SOS1 son of sevenless homolog 1 (Drosophila)
SOS2 son of sevenless homolog 2 (Drosophila)
SOX3 SRY (sex determining region Y)-box 3
SOX8 SRY (sex determining region Y)-box 8
SOX9 SRY (sex determining region Y)-box 9
SPIDR scaffolding protein involved in DNA repair
SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
SRY sex determining region Y
SSRP1 structure specific recognition protein 1
STAR steroidogenic acute regulatory protein
STATH statherin
SULT2A1 sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1
TG thyroglobulin
TIMP1 TIMP metallopeptidase inhibitor 1
TIMP3 TIMP metallopeptidase inhibitor 3
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TP53 tumor protein p53
TPO thyroid peroxidase
TSHB thyroid stimulating hormone, beta
TSHR thyroid stimulating hormone receptor
TYMS thymidylate synthetase
USP9X ubiquitin specific peptidase 9, X-linked
UTY ubiquitously transcribed tetratricopeptide repeat containing, Y-linked
VAMP7 vesicle-associated membrane protein 7
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
VWF von Willebrand factor
WDR34 WD repeat domain 34
WT1 Wilms tumor 1
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
ZFAT zinc finger and AT hook domain containing
ZFPM2 zinc finger protein, FOG family member 2
ZFX zinc finger protein, X-linked
ZFY zinc finger protein, Y-linked