Disease Term Disease ID Gene Symbol Classification References Source
Marinesco-Sjogren syndrome C0024814 SIL1 Causal Pathogenic evidence from ClinVar 11528383, 16282977, 16650075, 24176978, 25929793 ClinVar
INPP5K Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28190459 -
Marinesco-Sj gren syndrome 559 SIL1 Causal Pathogenic evidence from ClinVar - ClinVar
INPP5K Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -