Smith-lemli-opitz syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
SMITH-LEMLI-OPITZ SYNDROME
C0175694270400818MESH:D019082MONDO:0010035
CLCN1 Causal — Disgenet
DHCR7 Causal
11254748 12818773 12906934 14659996 15896653 16446309 16814115 17994283 19365639 27097157 29698737 20301322
CTD, ClinGen, ClinVar, Disgenet, GenCC, HPO, Orphanet
TSHR Causal — Disgenet
All4 Causal3 Unknown1
Related Diseases Diseases that share the most curated genes with Smith-lemli-opitz syndrome.
5 View disease cluster →
Congenital myotonia 1 shared geneCLCN1 Related via 1 shared gene including CLCN1. Myotonia congenita 1 shared geneCLCN1 Related via 1 shared gene including CLCN1. Syndactyly of the toes 1 shared geneDHCR7 Related via 1 shared gene including DHCR7. Becker generalized myotonia 1 shared geneCLCN1 Related via 1 shared gene including CLCN1. Hyperkalemic periodic paralysis 1 shared geneCLCN1 Related via 1 shared gene including CLCN1.