Opitz Gbbb Syndrome, X-Linked Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C2936904
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Genes

71 genes associated with the disease Opitz Gbbb Syndrome, X-Linked in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AKT1 v-akt murine thymoma viral oncogene homolog 1
ASXL1 additional sex combs like transcriptional regulator 1
BMP2 bone morphogenetic protein 2
CALN1 calneuron 1
CD276 CD276 molecule
COIL coilin
CTCF CCCTC-binding factor (zinc finger protein)
CXCR4 chemokine (C-X-C motif) receptor 4
DLX3 distal-less homeobox 3
EGFR epidermal growth factor receptor
EPHB2 EPH receptor B2
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
F3 coagulation factor III (thromboplastin, tissue factor)
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GPC3 glypican 3
HERC6 HECT and RLD domain containing E3 ubiquitin protein ligase family member 6
HK2 hexokinase 2
HMGB1 high mobility group box 1
HMOX1 heme oxygenase 1
IBSP integrin-binding sialoprotein
IGBP1 immunoglobulin (CD79A) binding protein 1
IGF2 insulin-like growth factor 2
ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
JAG2 jagged 2
JAK2 Janus kinase 2
KEAP1 kelch-like ECH-associated protein 1
KLK3 kallikrein-related peptidase 3
MAP3K7 mitogen-activated protein kinase kinase kinase 7
MAPK1 mitogen-activated protein kinase 1
MEFV Mediterranean fever
MGMT O-6-methylguanine-DNA methyltransferase
MID1 midline 1
MID1IP1 MID1 interacting protein 1
MID2 midline 2
MMP9 matrix metallopeptidase 9
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTX1 metaxin 1
MYC v-myc avian myelocytomatosis viral oncogene homolog
NFE2L2 nuclear factor, erythroid 2-like 2
NPEPPS aminopeptidase puromycin sensitive
NR2C2 nuclear receptor subfamily 2, group C, member 2
PIF1 PIF1 5'-to-3' DNA helicase
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PLAG1 pleiomorphic adenoma gene 1
PPP2CA protein phosphatase 2, catalytic subunit, alpha isozyme
PRKAA1 protein kinase, AMP-activated, alpha 1 catalytic subunit
PRKAA2 protein kinase, AMP-activated, alpha 2 catalytic subunit
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PROS1 protein S (alpha)
PSAT1 phosphoserine aminotransferase 1
PTPA protein phosphatase 2 phosphatase activator
RAG1 recombination activating gene 1
RFPL1 ret finger protein-like 1
RUNX2 runt-related transcription factor 2
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
SHC3 SHC (Src homology 2 domain containing) transforming protein 3
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
SOX18 SRY (sex determining region Y)-box 18
SPECC1L sperm antigen with calponin homology and coiled-coil domains 1-like
TMEM189 transmembrane protein 189
TMEM189-UBE2V1 TMEM189-UBE2V1 readthrough
TMSB10 thymosin beta 10
TOPBP1 topoisomerase (DNA) II binding protein 1
TP53 tumor protein p53
TP63 tumor protein p63
TRIM17 tripartite motif containing 17
UBE2V1 ubiquitin-conjugating enzyme E2 variant 1