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
GLRA1 Causal
20301437
GWAS catalog, Orphanet
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.