Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1283368278
rs1283368278
TBCE
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 GeneticVariation CLINVAR TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy. 27666369

2016
dbSNP: rs1283368278
rs1283368278
TBCE
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 GeneticVariation CLINVAR Hypoparathyroidism-retardation-Dysmorphism (HRD) syndrome--a review. 15645691

2004
dbSNP: rs1283368278
rs1283368278
TBCE
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 GeneticVariation CLINVAR Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. 12389028

2002
dbSNP: rs1283368278
rs1283368278
TBCE
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 GeneticVariation CLINVAR Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster. 9475091

1998
dbSNP: rs1283368278
rs1283368278
TBCE
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 GeneticVariation CLINVAR The new syndrome of congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay--a report of six patients. 7538982

1995
dbSNP: rs1283368278
rs1283368278
TBCE
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		C 0.700 GeneticVariation CLINVAR A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features. 2001103

1991