ASXL2, ASXL transcriptional regulator 2, 55252

N. diseases: 89; N. variants: 8
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11897652
rs11897652
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs28562485
rs28562485
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs28562485
rs28562485
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
CUI: C0427460
Disease:
Red cell distribution width determination 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs886041065
rs886041065
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
CUI: C1848701
Disease:
Elevated hepatic transaminase 		T 0.700 CausalMutation CLINVAR
dbSNP: rs886041065
rs886041065
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
CUI: C0423113
Disease:
Telecanthus 		T 0.700 CausalMutation CLINVAR
dbSNP: rs886041065
rs886041065
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
CUI: C0856975
Disease:
Autistic behavior 		T 0.700 CausalMutation CLINVAR
dbSNP: rs886041065
rs886041065
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
CUI: C0158986
Disease:
Neonatal hypoglycemia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs886041065
rs886041065
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
CUI: C0206733
Disease:
Strawberry nevus of skin 		T 0.700 CausalMutation CLINVAR
dbSNP: rs886041065
rs886041065
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
CUI: C0685707
Disease:
Muscular ventricular septum defect 		T 0.700 CausalMutation CLINVAR
dbSNP: rs886041065
rs886041065
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
CUI: C4012968
Disease:
Mild global developmental delay 		T 0.700 CausalMutation CLINVAR
dbSNP: rs886041065
rs886041065
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
CUI: C0423110
Disease:
Downward slant of palpebral fissure 		T 0.700 CausalMutation CLINVAR
dbSNP: rs886041065
rs886041065
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
CUI: C0241240
Disease:
Tall stature 		T 0.700 CausalMutation CLINVAR
dbSNP: rs886041065
rs886041065
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
CUI: C4310672
Disease:
SHASHI-PENA SYNDROME 		T 0.700 CausalMutation CLINVAR
dbSNP: rs886041065
rs886041065
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
CUI: C2711227
Disease:
Steatohepatitis 		T 0.700 CausalMutation CLINVAR
dbSNP: rs886041065
rs886041065
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
CUI: C1849265
Disease:
Overgrowth 		T 0.700 CausalMutation CLINVAR
dbSNP: rs886041065
rs886041065
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
CUI: C0020534
Disease:
Orbital separation excessive 		T 0.700 CausalMutation CLINVAR
dbSNP: rs886041065
rs886041065
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
CUI: C1858085
Disease:
Malar flattening 		T 0.700 CausalMutation CLINVAR
dbSNP: rs886041065
rs886041065
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs886041065
rs886041065
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
CUI: C1854408
Disease:
Glabellar hemangioma 		T 0.700 CausalMutation CLINVAR
dbSNP: rs886041065
rs886041065
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
CUI: C0152423
Disease:
Congenital small ears 		T 0.700 CausalMutation CLINVAR
dbSNP: rs886041065
rs886041065
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
CUI: C0021655
Disease:
Insulin Resistance 		T 0.700 CausalMutation CLINVAR
dbSNP: rs886041065
rs886041065
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
CUI: C0678230
Disease:
Congenital Epicanthus 		T 0.700 CausalMutation CLINVAR
dbSNP: rs886041065
rs886041065
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
CUI: C0009952
Disease:
Febrile Convulsions 		T 0.700 CausalMutation CLINVAR
dbSNP: rs886041065
rs886041065
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
CUI: C1855670
Disease:
Abnormal cornea morphology 		T 0.700 CausalMutation CLINVAR
dbSNP: rs886041065
rs886041065
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
CUI: C0240635
Disease:
Byzanthine arch palate 		T 0.700 CausalMutation CLINVAR