Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1006898944
rs1006898944
WDR62
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations. 28386937

2018
dbSNP: rs1006898944
rs1006898944
WDR62
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria. 21834044

2011
dbSNP: rs1006898944
rs1006898944
WDR62
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR WDR62 is associated with the spindle pole and is mutated in human microcephaly. 20890279

2010
dbSNP: rs1006898944
rs1006898944
WDR62
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. 20890278

2010
dbSNP: rs1006898944
rs1006898944
WDR62
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. 20729831

2010