TBCE, tubulin folding cofactor E, 6905

N. diseases: 146; N. variants: 15
Disease: KENNY-CAFFEY SYNDROME, TYPE 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs758937799
rs758937799
Entrez Id: 6905
Gene Symbol: TBCE
TBCE
CUI: C1855648
Disease:
KENNY-CAFFEY SYNDROME, TYPE 1 		A 0.700 GeneticVariation CLINVAR Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. 12389028 2002