Schimke Immunoosseous Dysplasia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0877024
Similar Terms
Downloads & Tools

Genes

20 genes associated with the disease Schimke Immunoosseous Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AKR1B10 aldo-keto reductase family 1, member B10 (aldose reductase)
ANGPTL2 angiopoietin-like 2
ANGPTL4 angiopoietin-like 4
ANKS4B ankyrin repeat and sterile alpha motif domain containing 4B
CHPT1 choline phosphotransferase 1
DHDDS dehydrodolichyl diphosphate synthase
ELN elastin
GM2A GM2 ganglioside activator
HEXB hexosaminidase B (beta polypeptide)
IL7 interleukin 7
IL7R interleukin 7 receptor
MPL MPL proto-oncogene, thrombopoietin receptor
NOTCH1 notch 1
PANK2 pantothenate kinase 2
PTN pleiotrophin
SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
ZRANB3 zinc finger, RAN-binding domain containing 3