Smith-magenis syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Smith-Magenis syndrome 819, C0795864 RAI1 Causal Pathogenic evidence from ClinVar 12652298, 15459175, 15565467, 15746153, 15788730, 16845274, 17041942, 17273973, 17517686, 18285828, 19116176, 19236431, 19752160, 20691407, 20981775, 22578325, 27693255 ClinVar
DEAF1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28213671 -
FLII Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7825574, 9177775, 15690371 -
IQSEC2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28213671 -
SMS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -