Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs140430952
rs140430952
TGDS
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus. 28422407

2017
dbSNP: rs140430952
rs140430952
TGDS
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Catel-Manzke Syndrome: Further Delineation of the Phenotype Associated with Pathogenic Variants in TGDS. 26366375

2015
dbSNP: rs140430952
rs140430952
TGDS
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome. 25480037

2014
dbSNP: rs140430952
rs140430952
TGDS
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR A patient with hyperphalangism: the milder phenotype of Catel-Manzke syndrome. 24326962

2013
dbSNP: rs140430952
rs140430952
TGDS
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Catel-Manzke syndrome: a clinical report suggesting autosomal recessive inheritance. 21834032

2011
dbSNP: rs140430952
rs140430952
TGDS
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Catel-Manzke syndrome: two new patients and a critical review of the literature. 18501694

2008
dbSNP: rs140430952
rs140430952
TGDS
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Catel-Manzke syndrome without cleft palate: a case report. 14564220

2003