Noonan Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_3490)
External Link https://www.disgenet.org/browser/0/1/0/C1834120
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Genes

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

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
ACP1 acid phosphatase 1, soluble
ACVR1 activin A receptor, type I
AMH anti-Mullerian hormone
APAF1 apoptotic peptidase activating factor 1
ARAF A-Raf proto-oncogene, serine/threonine kinase
ARHGEF2 Rho/Rac guanine nucleotide exchange factor (GEF) 2
ATR ATR serine/threonine kinase
BANF1 barrier to autointegration factor 1
BRAF B-Raf proto-oncogene, serine/threonine kinase
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CCL3 chemokine (C-C motif) ligand 3
CDAN1 codanin 1
CDC25C cell division cycle 25C
CDC42 cell division cycle 42
CENPJ centromere protein J
CEP63 centrosomal protein 63kDa
DSG4 desmoglein 4
DTX1 deltex 1, E3 ubiquitin ligase
EIF4E eukaryotic translation initiation factor 4E
ELK1 ELK1, member of ETS oncogene family
EPHA2 EPH receptor A2
EPHB2 EPH receptor B2
FHL1 four and a half LIM domains 1
GH1 growth hormone 1
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B
HRAS Harvey rat sarcoma viral oncogene homolog
IFNA1 interferon, alpha 1
IFNA13 interferon, alpha 13
IFNAR2 interferon (alpha, beta and omega) receptor 2
IFNB1 interferon, beta 1, fibroblast
IGF1 insulin-like growth factor 1 (somatomedin C)
IGFBP3 insulin-like growth factor binding protein 3
IL10 interleukin 10
IL15 interleukin 15
IL6 interleukin 6
IRF3 interferon regulatory factor 3
KAT6B K(lysine) acetyltransferase 6B
KRAS Kirsten rat sarcoma viral oncogene homolog
LZTR1 leucine-zipper-like transcription regulator 1
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MAP2K7 mitogen-activated protein kinase kinase 7
MAPK1 mitogen-activated protein kinase 1
MAPK3 mitogen-activated protein kinase 3
MAPK7 mitogen-activated protein kinase 7
MED18 mediator complex subunit 18
MPZL1 myelin protein zero-like 1
MRAS muscle RAS oncogene homolog
MTG1 mitochondrial ribosome-associated GTPase 1
MUL1 mitochondrial E3 ubiquitin protein ligase 1
MVD mevalonate (diphospho) decarboxylase
MYC v-myc avian myelocytomatosis viral oncogene homolog
NCK2 NCK adaptor protein 2
NF1 neurofibromin 1
NOTCH1 notch 1
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
PARK2 parkin RBR E3 ubiquitin protein ligase
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PPP1CB protein phosphatase 1, catalytic subunit, beta isozyme
PTEN phosphatase and tensin homolog
PTPN1 protein tyrosine phosphatase, non-receptor type 1
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPRT protein tyrosine phosphatase, receptor type, T
PTPRU protein tyrosine phosphatase, receptor type, U
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RARRES3 retinoic acid receptor responder (tazarotene induced) 3
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RASA2 RAS p21 protein activator 2
RASGRF1 Ras protein-specific guanine nucleotide-releasing factor 1
REG1A regenerating islet-derived 1 alpha
RIT1 Ras-like without CAAX 1
RNASE1 ribonuclease, RNase A family, 1 (pancreatic)
RNASE3 ribonuclease, RNase A family, 3
RPL6 ribosomal protein L6
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RRAS related RAS viral (r-ras) oncogene homolog
RRAS2 related RAS viral (r-ras) oncogene homolog 2
SGSM3 small G protein signaling modulator 3
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SHOX short stature homeobox
SLC25A3 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3
SLC2A4RG SLC2A4 regulator
SOS1 son of sevenless homolog 1 (Drosophila)
SOS2 son of sevenless homolog 2 (Drosophila)
SPDYA speedy/RINGO cell cycle regulator family member A
SPRED1 sprouty-related, EVH1 domain containing 1
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STAT5A signal transducer and activator of transcription 5A
STAT5B signal transducer and activator of transcription 5B
TNF tumor necrosis factor
TSC1 tuberous sclerosis 1
USF1 upstream transcription factor 1
XYLT2 xylosyltransferase II
ZHX2 zinc fingers and homeoboxes 2
ZNF462 zinc finger protein 462
ZNF645 zinc finger protein 645