Rothmund-thomson syndrome | Gene-Disease Associations & Pathways | GeDiPNet

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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	Cell cycle Oocyte meiosis Ubiquitin mediated proteolysis +18 more
ROTHMUND-THOMSON SYNDROME	C0032339 MESH:D011038 MONDO:0010002	DNA2	Causal	—	Disgenet	DNA replication Removal of the Flap Intermediate from the C-strand HDR through Single Strand Annealing (SSA) +9 more
		RECQL4	Causal	10319867 10678659 12734318 12838562 12915449 15703196 18616953 19567405 20503338	CTD, ClinGen, Disgenet, GWAS catalog	—
		ALDH18A1	Unknown	—	Disgenet	Arginine and proline metabolism Metabolic pathways Biosynthesis of amino acids +1 more
		ANAPC1	Unknown	—	Disgenet	Cell cycle Oocyte meiosis Ubiquitin mediated proteolysis +18 more
		ATP6V0A2	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Lysosome +12 more
		ATP6V1A	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Phagosome +12 more
		ATP6V1E1	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Phagosome +12 more
		CRIPT	Unknown	—	Disgenet	—
		EFEMP2	Unknown	—	Disgenet	Molecules associated with elastic fibres
		ELN	Unknown	—	Disgenet	Cytoskeleton in muscle cells Protein digestion and absorption Degradation of the extracellular matrix +2 more
		FBLN5	Unknown	—	Disgenet	Elastic fibre formation Molecules associated with elastic fibres
		PYCR1	Unknown	—	Disgenet	Arginine and proline metabolism Metabolic pathways Biosynthesis of amino acids +1 more
ROTHMUND-THOMSON SYNDROME TYPE 1	221008 MONDO:0016368	ANAPC1	Causal	31303264	CTD, ClinGen, ClinVar, Orphanet	Cell cycle Oocyte meiosis Ubiquitin mediated proteolysis +18 more
ROTHMUND-THOMSON SYNDROME TYPE 2	221016 MONDO:0016369	RECQL4	Causal	10319867 20503338 12734318 9878247 10678659 12838562 20301415	ClinVar, GWAS catalog, Orphanet	—
ROTHMUND-THOMSON SYNDROME TYPE 3	MONDO:0014347	CRIPT	Causal	24389050 27250922	GWAS catalog	—
ROTHMUND-THOMSON SYNDROME, TYPE 1	618625	ANAPC1	Unknown	31303264	HPO	Cell cycle Oocyte meiosis Ubiquitin mediated proteolysis +18 more
ROTHMUND-THOMSON SYNDROME, TYPE 2	268400 C5203410	RECQL4	Unknown	10319867 10678659 12734318 12838562 20503338 9878247	Disgenet, HPO, ClinGen	—
ROTHMUND-THOMSON SYNDROME, TYPE 3	615789 C4014339 MONDO:0014347	CRIPT	Unknown	—	ClinVar, Disgenet, HPO	—
ROTHMUND-THOMSON SYNDROME, TYPE 4	620819 C5935619 MONDO:0970950	DNA2	Unknown	—	ClinVar, Disgenet, HPO	DNA replication Removal of the Flap Intermediate from the C-strand HDR through Single Strand Annealing (SSA) +9 more