Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs606231459
rs606231459
Entrez Id: 3340
Gene Symbol: NDST1
NDST1
CUI: C4015283
Disease:
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 		0.800 GeneticVariation UNIPROT NDST1 missense mutations in autosomal recessive intellectual disability. 25125150 2014
dbSNP: rs606231459
rs606231459
Entrez Id: 3340
Gene Symbol: NDST1
NDST1
CUI: C4015283
Disease:
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 		A 0.800 CausalMutation CLINVAR