Treacher collins syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
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
All4 Causal4 Unknown4
Related Diseases Diseases that share the most curated genes with Treacher collins syndrome.
5 View disease cluster →
Mandibulofacial dysostosis 4 shared genesPOLR1C, TCOF1, POLR1D, POLR1B Related via 4 shared genes including POLR1C, TCOF1, POLR1D. POLR1C-related disorder 1 shared genePOLR1C Related via 1 shared gene including POLR1C. Sialolithiasis 1 shared genePOLR1D Related via 1 shared gene including POLR1D. Hypomyelinating leukodystrophy 1 shared genePOLR1C Related via 1 shared gene including POLR1C. Diffuse large b-cell lymphoma 1 shared genePOLR1D Related via 1 shared gene including POLR1D.