Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587778779
rs587778779
CYP27A1
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587778779
rs587778779
CYP27A1
CUI: C1854301
Disease: Motor delay
Motor delay 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587778779
rs587778779
CYP27A1
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587778779
rs587778779
CYP27A1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587778779
rs587778779
CYP27A1
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587778779
rs587778779
CYP27A1
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587778779
rs587778779
CYP27A1
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587778779
rs587778779
CYP27A1
CUI: C1836451
Disease: Distal lower limb amyotrophy
Distal lower limb amyotrophy 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587778779
rs587778779
CYP27A1
CUI: C2674432
Disease: Reduced bone mineral density
Reduced bone mineral density 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587778779
rs587778779
CYP27A1
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587778779
rs587778779
CYP27A1
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587778779
rs587778779
CYP27A1
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587778779
rs587778779
CYP27A1
CUI: C1836696
Disease: Lower limb hyperreflexia
Lower limb hyperreflexia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587778779
rs587778779
CYP27A1
CUI: C0221253
Disease: Xanthoma tendinosum
Xanthoma tendinosum 		T 0.700 CausalMutation CLINVAR