B9D2, B9 domain containing 2, 80776

N. diseases: 66; N. variants: 13
Disease: MECKEL SYNDROME, TYPE 10 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs750436680
rs750436680
Entrez Id: 7040;80776
Gene Symbol: TGFB1;B9D2
TGFB1;B9D2
CUI: C3280036
Disease:
MECKEL SYNDROME, TYPE 10 		0.700 GeneticVariation UNIPROT Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015