Sheldon-hall syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
SHELDON-HALL SYNDROME
1147MONDO:0011128
MYH3 Unknown
16642020 23401156
Disgenet, Orphanet
NALCN Unknown
25683120
Disgenet, Orphanet
TNNI2 Unknown
23401156
Disgenet, Orphanet
TPM2 Unknown
23401156
GWAS catalog, Orphanet
All5 Causal1 Unknown4
Related Diseases Diseases that share the most curated genes with Sheldon-hall syndrome.
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Digitotalar dysmorphism 5 shared genesMYH3, TPM2, NALCN, TNNI2, TNNT3 Related via 5 shared genes including MYH3, TPM2, NALCN. Distal arthrogryposis 5 shared genesMYH3, TPM2, NALCN, TNNI2, TNNT3 Related via 5 shared genes including MYH3, TPM2, NALCN. Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1 shared geneMYH3 Related via 1 shared gene including MYH3. Contractures, pterygia, and variable skeletal fusions syndrome 1 shared geneMYH3 Related via 1 shared gene including MYH3. TPM2-related myopathy 1 shared geneTPM2 Related via 1 shared gene including TPM2.