rs1085307135, PUF60

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
0.700 GeneticVariation CLINVAR
VERHEIJ SYNDROME
CUI: C3810023
Disease: VERHEIJ SYNDROME
0.700 CausalMutation CLINVAR
Short stature
CUI: C0349588
Disease: Short stature
0.700 GeneticVariation CLINVAR
Congenital absence of kidney
CUI: C0542519
Disease: Congenital absence of kidney
0.700 GeneticVariation CLINVAR
Congenital ocular coloboma (disorder)
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
0.700 GeneticVariation CLINVAR