Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6309
Gene Symbol: SC5D
SC5D
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.510 Biomarker GENOMICS_ENGLAND Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties. 30097991

2019

Entrez Id: 6309
Gene Symbol: SC5D
SC5D
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.510 Biomarker CTD_human Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase. 12189593

2002