Hereditary hyperekplexia

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
HEREDITARY HYPEREKPLEXIA
3197MONDO:0021022
ATAD1 Unknown
29390050
CTD, Orphanet
GLRB Unknown
20301437
Disgenet, Orphanet
GPHN Unknown
20301437
GWAS catalog, Orphanet
SLC6A5 Unknown
20301437
GWAS catalog, Orphanet
HEREDITARY HYPEREXPLEXIA
C1835614
ATAD1 Unknown — Disgenet
GLRA1 Unknown — Disgenet
GLRB Unknown — Disgenet
GPHN Unknown — Disgenet
SLC6A5 Unknown — Disgenet
All5 Causal1 Unknown5
Related Diseases Diseases that share the most curated genes with Hereditary hyperekplexia.
5 View disease cluster →
Hyperekplexia 5 shared genesGPHN, SLC6A5, GLRA1, ATAD1, GLRB Related via 5 shared genes including GPHN, SLC6A5, GLRA1. Hyperexplexia hereditary 4 shared genesGPHN, SLC6A5, GLRA1, GLRB Related via 4 shared genes including GPHN, SLC6A5, GLRA1. sulfite oxidase deficiency due to molybdenum cofactor deficiency type C 1 shared geneGPHN Related via 1 shared gene including GPHN. Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome 1 shared geneGPHN Related via 1 shared gene including GPHN. Arachnoid cysts 1 shared geneGPHN Related via 1 shared gene including GPHN.