Treacher collins syndrome

Disease Term Disease ID Gene Symbol Classification References Source
TREACHER COLLINS SYNDROME 1
154500MONDO:0007944
TCOF1 Causal
11013442 15039977 15214011 12114482 8563749 14598341 9096354
ClinVar Disgenet HPO
TREACHER COLLINS SYNDROME 2
613717C3150983MONDO:0013385OMIM:613717
POLR1D Causal
21131976
CTD ClinGen ClinVar Disgenet HPO Orphanet
TREACHER COLLINS SYNDROME 3
248390MONDO:0009558
POLR1C Causal
21131976 251406 251484 26151409 26972049 27448281 282838 29567474 30957429 32042905 3515625
ClinGen ClinVar GWAS catalog HPO
TREACHER COLLINS SYNDROME 4
618939C5394546MONDO:0030067
POLR1B Causal
31649276
ClinGen ClinVar Disgenet GenCC HPO
TREACHER-COLLINS SYNDROME
861MONDO:0002457
POLR1B Unknown
25790162
Orphanet
POLR1C Unknown
20301704
GWAS catalog Orphanet
POLR1D Unknown
20301704
GenCC Orphanet
TCOF1 Unknown
20003452 20106873 20301704 22317976 25790162 29230583 30390570 31307516 8894686
ClinGen Disgenet Orphanet