Rothmund-thomson syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
ROTHMUND THOMSON SYNDROME TYPE 1
C5231433
ANAPC1 Unknown — Disgenet
ROTHMUND-THOMSON SYNDROME
C0032339
ALDH18A1 Unknown — Disgenet
ANAPC1 Unknown — Disgenet
ATP6V0A2 Unknown — Disgenet
ATP6V1A Unknown — Disgenet
ATP6V1E1 Unknown — Disgenet
CRIPT Unknown — Disgenet —
EFEMP2 Unknown — Disgenet
ELN Unknown — Disgenet
FBLN5 Unknown — Disgenet
PYCR1 Unknown — Disgenet
ROTHMUND-THOMSON SYNDROME, TYPE 1
618625
ANAPC1 Unknown
31303264
HPO
ROTHMUND-THOMSON SYNDROME, TYPE 2
268400C5203410
RECQL4 Unknown
10319867 10678659 12734318 12838562 20503338 9878247
Disgenet, HPO, ClinGen —
ROTHMUND-THOMSON SYNDROME, TYPE 3
615789C4014339MONDO:0014347
CRIPT Unknown — ClinVar, Disgenet, HPO —
ROTHMUND-THOMSON SYNDROME, TYPE 4
620819C5935619MONDO:0970950
DNA2 Unknown — ClinVar, Disgenet, HPO
All12 Causal4 Unknown12
Related Diseases Diseases that share the most curated genes with Rothmund-thomson syndrome.
5 View disease cluster →
Accessory skin tag 8 shared genesALDH18A1, ATP6V0A2, ELN, EFEMP2, FBLN5, ATP6V1A, ATP6V1E1, PYCR1 Related via 8 shared genes including ALDH18A1, ATP6V0A2, ELN. Benign pemphigus 8 shared genesALDH18A1, ATP6V0A2, ELN, EFEMP2, FBLN5, ATP6V1A, ATP6V1E1, PYCR1 Related via 8 shared genes including ALDH18A1, ATP6V0A2, ELN. Darier disease 8 shared genesALDH18A1, ATP6V0A2, ELN, EFEMP2, FBLN5, ATP6V1A, ATP6V1E1, PYCR1 Related via 8 shared genes including ALDH18A1, ATP6V0A2, ELN. Cutis laxa 8 shared genesALDH18A1, ATP6V0A2, ELN, EFEMP2, FBLN5, ATP6V1A, ATP6V1E1, PYCR1 Related via 8 shared genes including ALDH18A1, ATP6V0A2, ELN. Ruptured abdominal aortic aneurysm 2 shared genesELN, EFEMP2 Related via 2 shared genes including ELN, EFEMP2.