Hyperekplexia

Disease Term Disease ID Gene Symbol Classification References Source
HYPEREKPLEXIA
MONDO:0017658NBK1260PS149400
GLRA1 Unknown — ClinVar
GLRB Unknown — ClinVar
SLC6A5 Unknown — ClinVar
HYPEREKPLEXIA 1
149400C4551954MONDO:0007868
GLRA1 Causal
24030948 30109271 24970905 9920650 20631190 8733061 14580232 14673895 15771552 18043720 19073849 24969041 29602144 30182260
ClinVar Disgenet HPO
GPHN Unknown — ClinVar Disgenet HPO
HYPEREKPLEXIA 2
614619C3553291MONDO:0013828
GLRB Causal
23184146 24030948 32911248 21391991 23238346 23182654 33323420 11929858
ClinVar Disgenet GWAS catalog HPO
HYPEREKPLEXIA 3
614618C3553288MONDO:0013827
SLC6A5 Causal — ClinVar Disgenet GenCC HPO
HYPEREKPLEXIA 4
618011C4693933MONDO:0044330
ATAD1 Causal
28180185 29390050 29659736
ClinVar Disgenet GWAS catalog HPO