Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
TRICHOTHIODYSTROPHY	33364 MONDO:0018053	ERCC2	Causal	12393803	Disgenet Orphanet
		AARS1	Unknown	33909043	Orphanet
		CARS1	Unknown	30824121	Orphanet
		ERCC3	Unknown	12393803	Disgenet Orphanet
		GTF2E2	Unknown	26996949	CTD Orphanet
		GTF2H5	Unknown	12393803	ClinVar Orphanet
		MPLKIP	Unknown	—	GenCC Orphanet
		RNF113A	Unknown	25612912	GWAS catalog Orphanet
		TARS1	Unknown	31374204	GWAS catalog Orphanet
TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE	601675 MONDO:0011125 OMIM:601675	ERCC2	Causal	19085937 30919937 31253769 31282071 7920640 8571952 9651581 9758621	CTD ClinVar Disgenet HPO
TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE	601675 MONDO:0011125 OMIM:601675	ERCC3	Unknown	—	GenCC
TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE	616390 C4225344 MONDO:0014615 OMIM:616390	ERCC3	Causal	16947863 8408834 4811796 9012405	CTD ClinVar Disgenet GWAS catalog HPO
TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE	616395 C4017171 MONDO:0014619 OMIM:616395	GTF2H5	Causal	—	CTD ClinVar Disgenet GenCC HPO
TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE	234050 MONDO:0021013	MPLKIP	Causal	—	ClinVar GenCC HPO
TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE	300953 C4225420 MONDO:0010495 OMIM:300953	RNF113A	Causal	25612912 31793730 31880405	CTD ClinVar Disgenet HPO
TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE	616943 C4310785 MONDO:0014841 OMIM:616943	GTF2E2	Causal	26996949 28973399	CTD ClinVar Disgenet GenCC HPO
TRICHOTHIODYSTROPHY 7, NONPHOTOSENSITIVE	618546 C5231403 MONDO:0032806	TARS1	Causal	31374204	ClinVar Disgenet GWAS catalog HPO
TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE	619691 C5562057 MONDO:0030517	AARS1	Causal	—	ClinVar Disgenet GenCC HPO
TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE	619692 C5562058 MONDO:0030518	MARS1	Unknown	33909043	ClinVar Disgenet HPO
TRICHOTHIODYSTROPHY SYNDROMES	C1955934 MESH:D054463	AARS1	Unknown	—	Disgenet
		CARS1	Unknown	—	Disgenet
		ERCC2	Unknown	—	Disgenet
		ERCC3	Unknown	—	Disgenet
		GTF2E2	Unknown	—	Disgenet
		GTF2H5	Unknown	—	Disgenet
		MPLKIP	Unknown	—	CTD Disgenet
		PLK1	Unknown	—	Disgenet
		RNF113A	Unknown	—	Disgenet
		TARS1	Unknown	—	Disgenet
TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1	C4083251	RNF113A	Unknown	—	Disgenet

Trichothiodystrophy