TBCE, tubulin folding cofactor E, 6905

N. diseases: 146; N. variants: 15
Disease: KENNY-CAFFEY SYNDROME, TYPE 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1855648
Disease: KENNY-CAFFEY SYNDROME, TYPE 1
KENNY-CAFFEY SYNDROME, TYPE 1 		0.720 Biomarker disease GENOMICS_ENGLAND TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy. 27666369 2016
CUI: C1855648
Disease: KENNY-CAFFEY SYNDROME, TYPE 1
KENNY-CAFFEY SYNDROME, TYPE 1 		0.720 GeneticVariation disease BEFREE The autosomal dominant form of KCS (KCS type 2 [KCS2]) is distinguished from the autosomal recessive form of KCS (KCS type 1 [KCS1]), which is caused by mutations of the tubulin-folding cofactor E (TBCE) gene, by the absence of mental retardation. 23996431 2014
CUI: C1855648
Disease: KENNY-CAFFEY SYNDROME, TYPE 1
KENNY-CAFFEY SYNDROME, TYPE 1 		0.720 Biomarker disease GENOMICS_ENGLAND Cryptic out-of-frame translational initiation of TBCE rescues tubulin formation in compound heterozygous HRD. 16938882 2006
CUI: C1855648
Disease: KENNY-CAFFEY SYNDROME, TYPE 1
KENNY-CAFFEY SYNDROME, TYPE 1 		0.720 GeneticVariation disease BEFREE Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. 12389028 2002
CUI: C1855648
Disease: KENNY-CAFFEY SYNDROME, TYPE 1
KENNY-CAFFEY SYNDROME, TYPE 1 		0.720 GeneticVariation disease CLINVAR Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. 12389028 2002
CUI: C1855648
Disease: KENNY-CAFFEY SYNDROME, TYPE 1
KENNY-CAFFEY SYNDROME, TYPE 1 		0.720 GermlineCausalMutation disease ORPHANET Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. 12389028 2002
CUI: C1855648
Disease: KENNY-CAFFEY SYNDROME, TYPE 1
KENNY-CAFFEY SYNDROME, TYPE 1 		0.720 CausalMutation disease CLINVAR
CUI: C1855648
Disease: KENNY-CAFFEY SYNDROME, TYPE 1
KENNY-CAFFEY SYNDROME, TYPE 1 		0.720 Biomarker disease CTD_human