Tuberous sclerosis complex

Disease Term Disease ID Gene Symbol Classification References Source
TUBEROUS SCLEROSIS
MESH:D014402MONDO:0001734
IFNG Unknown
16845661
CTD
TSC1 Unknown
10349994 11170177 15888477 18345974 21062901 21345208 27425891 9242607 9863590
CTD ClinGen Disgenet
TSC2 Unknown
10732801 18345974 21062901 21345208 20530489 25927202 27493206 7546221 7972075 8944308 9302281
CTD ClinGen GWAS catalog
TUBEROUS SCLEROSIS 1
191100C1854465MESH:C565346MONDO:0008612
TSC1 Causal
18830229 9242607 10340649 10053179 10823953
CTD ClinVar Disgenet HPO
TSC2 Causal — Disgenet
PI4KA Unknown — Disgenet
TUBEROUS SCLEROSIS 2
613254C1860707MESH:C566021MONDO:0013199
TSC2 Causal
10732801 7581393 10069705 10206124 19259131 17120248 9361032 9302281 8825048 8824881 9463313 8634701 12752578 11403047 12192641
CTD ClinVar Disgenet HPO
IFNG Unknown — CTD ClinVar Disgenet
NTHL1 Unknown — Disgenet
PKD1 Unknown — Disgenet
TUBEROUS SCLEROSIS COMPLEX
805MONDO:0019341
IFNG Unknown
12192641
Orphanet
TSC1 Unknown
20301399
GWAS catalog Orphanet
TSC2 Unknown
20301399
GWAS catalog Orphanet