Leopard 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_14291)
External Link https://www.disgenet.org/browser/0/1/0/C1969056
Similar Terms
Downloads & Tools

Genes

47 genes associated with the disease Leopard 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
AKT1 v-akt murine thymoma viral oncogene homolog 1
BRAF B-Raf proto-oncogene, serine/threonine kinase
CDC73 cell division cycle 73
DSP desmoplakin
EGF epidermal growth factor
EPHA2 EPH receptor A2
EPHB2 EPH receptor B2
FBN1 fibrillin 1
FXN frataxin
GAB1 GRB2-associated binding protein 1
HRAS Harvey rat sarcoma viral oncogene homolog
IRS1 insulin receptor substrate 1
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
MRAS muscle RAS oncogene homolog
MTOR mechanistic target of rapamycin (serine/threonine kinase)
NF1 neurofibromin 1
NFATC4 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
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
PPP1CB protein phosphatase 1, catalytic subunit, beta isozyme
PPP1R13L protein phosphatase 1, regulatory subunit 13 like
PTEN phosphatase and tensin homolog
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RASA2 RAS p21 protein activator 2
RIT1 Ras-like without CAAX 1
RRAS related RAS viral (r-ras) oncogene homolog
SASH1 SAM and SH3 domain containing 1
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
SOS1 son of sevenless homolog 1 (Drosophila)
SOS2 son of sevenless homolog 2 (Drosophila)
TESC tescalcin
TSC1 tuberous sclerosis 1
ZHX2 zinc fingers and homeoboxes 2