Warburg micro syndrome

Disease Term Disease ID Gene Symbol Classification References Source
WARBURG MICRO SYNDROME
C5442005MONDO:0016649
RAB3GAP1 Causal
15696165 20512159 23420520 25326635 26421802
CTD ClinGen Disgenet
RAB18 Unknown
21473985 23420520 24764192 25779931 26879639
ClinGen Disgenet GWAS catalog
RAB3GAP2 Unknown
16532399 20967465 23420520 24891604 32376645 32740904
ClinGen Disgenet
TBC1D20 Unknown
24239381
Disgenet GWAS catalog
WARBURG MICRO SYNDROME 1
600118C1838625MONDO:0010822
RAB3GAP1 Causal
15216543 15696165 20512159 10465117 29675078
ClinVar Disgenet HPO
RAB18 Unknown — Disgenet
RAB3GAP2 Unknown — Disgenet
TBC1D20 Unknown — Disgenet
WARBURG MICRO SYNDROME 2
614225C3280214MONDO:0013641
RAB3GAP2 Causal
16532399 23420520
CTD ClinVar Disgenet HPO
WARBURG MICRO SYNDROME 3
614222C3280203MONDO:0013638
RAB18 Causal
21473985 29300443 26063829
CTD ClinVar Disgenet HPO
WARBURG MICRO SYNDROME 4
615663C3810265MONDO:0014296
TBC1D20 Causal
24239381
ClinVar Disgenet GWAS catalog HPO
WARBURG SJO FLEDELIUS SYNDROME
MESH:C536681
RAB18 Unknown — CTD
RAB3GAP1 Unknown — CTD
RAB3GAP2 Unknown — CTD
TBC1D20 Unknown — CTD