Disease: Dysmorphic features ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs746593718
rs746593718
Entrez Id: 6905;148789
Gene Symbol: TBCE;B3GALNT2
TBCE;B3GALNT2
CUI: C0432072
Disease:
Dysmorphic features 		CAAAGT 0.700 GeneticVariation CLINVAR TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy. 27666369 2016
dbSNP: rs746593718
rs746593718
Entrez Id: 6905;148789
Gene Symbol: TBCE;B3GALNT2
TBCE;B3GALNT2
CUI: C0432072
Disease:
Dysmorphic features 		CAAAGT 0.700 GeneticVariation CLINVAR Hypoparathyroidism-retardation-Dysmorphism (HRD) syndrome--a review. 15645691 2004
dbSNP: rs746593718
rs746593718
Entrez Id: 6905;148789
Gene Symbol: TBCE;B3GALNT2
TBCE;B3GALNT2
CUI: C0432072
Disease:
Dysmorphic features 		CAAAGT 0.700 GeneticVariation CLINVAR Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. 12389028 2002
dbSNP: rs746593718
rs746593718
Entrez Id: 6905;148789
Gene Symbol: TBCE;B3GALNT2
TBCE;B3GALNT2
CUI: C0432072
Disease:
Dysmorphic features 		CAAAGT 0.700 GeneticVariation CLINVAR Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster. 9475091 1998
dbSNP: rs746593718
rs746593718
Entrez Id: 6905;148789
Gene Symbol: TBCE;B3GALNT2
TBCE;B3GALNT2
CUI: C0432072
Disease:
Dysmorphic features 		CAAAGT 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: rs746593718
rs746593718
Entrez Id: 6905;148789
Gene Symbol: TBCE;B3GALNT2
TBCE;B3GALNT2
CUI: C0432072
Disease:
Dysmorphic features 		CAAAGT 0.700 GeneticVariation CLINVAR A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features. 2001103 1991