Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
DYSKERATOSIS CONGENITA	1775 C0265965 MONDO:0015780 MESH:D019871	CTC1	Causal	20301779 22532422 22556055	CTD, Disgenet, Orphanet	Telomere C-strand synthesis initiation
		DKC1	Causal	17785587 22299032 20301779	CTD, ClinVar, Disgenet, Orphanet	Ribosome biogenesis in eukaryotes Telomere Extension By Telomerase rRNA modification in the nucleus and cytosol
		PARN	Causal	25893599	Disgenet, GWAS catalog, Orphanet	RNA degradation ATF4 activates genes in response to endoplasmic reticulum stress Deadenylation of mRNA +1 more
		POT1	Causal	—	Disgenet	Recognition and association of DNA glycosylase with site containing an affected purine Cleavage of the damaged purine Packaging Of Telomere Ends +2 more
		RTEL1	Causal	23453664	Disgenet, GWAS catalog, Orphanet	Telomere Extension By Telomerase Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
		TERT	Causal	16247010 17785587 18042801 20301779	CTD, Disgenet, GWAS catalog, Orphanet	Human papillomavirus infection Human T-cell leukemia virus 1 infection Pathways in cancer +4 more
		TINF2	Causal	18252230 20301779	CTD, Disgenet, GWAS catalog, Orphanet	Recognition and association of DNA glycosylase with site containing an affected purine Cleavage of the damaged purine Packaging Of Telomere Ends +2 more
		TYMS	Causal	35931051	Disgenet, Orphanet	Pyrimidine metabolism One carbon pool by folate Metabolic pathways +5 more
		ZCCHC8	Causal	—	Disgenet	—
		DCLRE1B	Unknown	—	Disgenet	Fanconi Anemia Pathway
		ENOSF1	Unknown	—	Disgenet	Fructose and mannose metabolism Metabolic pathways
		GAR1	Unknown	22299032	CTD, Disgenet	Ribosome biogenesis in eukaryotes Telomere Extension By Telomerase rRNA modification in the nucleus and cytosol
		NHP2	Unknown	20301779	Disgenet, Orphanet	Ribosome biogenesis in eukaryotes Telomere Extension By Telomerase rRNA modification in the nucleus and cytosol
		NOP10	Unknown	20301779	Disgenet, Orphanet	Ribosome biogenesis in eukaryotes Telomere Extension By Telomerase rRNA modification in the nucleus and cytosol
		NPM1	Unknown	31570891	CTD, Disgenet, GWAS catalog, Orphanet	Nuclear import of Rev protein SUMOylation of transcription cofactors Deposition of new CENPA-containing nucleosomes at the centromere +2 more
		PFAS	Unknown	—	Disgenet	Purine metabolism Metabolic pathways Purine ribonucleoside monophosphate biosynthesis
		RMND5B	Unknown	—	Disgenet	—
		TGM1	Unknown	—	Disgenet	Formation of the cornified envelope
		TP53	Unknown	—	Disgenet	Endocrine resistance Platinum drug resistance MAPK signaling pathway +85 more
		USB1	Unknown	20817924 22160078	Disgenet, GWAS catalog, Orphanet	—
		WRAP53	Unknown	20301779	ClinGen, Disgenet, GenCC, Orphanet	Telomere Extension By Telomerase
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT	C1851970 MESH:C565079	TERT	Unknown	—	CTD, Disgenet	Human papillomavirus infection Human T-cell leukemia virus 1 infection Pathways in cancer +4 more
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT	C1851970 MESH:C565079	TINF2	Unknown	—	CTD, Disgenet	Recognition and association of DNA glycosylase with site containing an affected purine Cleavage of the damaged purine Packaging Of Telomere Ends +2 more
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1	C4551974 127550 MONDO:0007485	INPP4A	Causal	—	Disgenet	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +3 more
		TERT	Causal	—	ClinVar, Disgenet, HPO	Human papillomavirus infection Human T-cell leukemia virus 1 infection Pathways in cancer +4 more
		TINF2	Causal	—	ClinVar, Disgenet, HPO	Recognition and association of DNA glycosylase with site containing an affected purine Cleavage of the damaged purine Packaging Of Telomere Ends +2 more
		MECOM	Unknown	—	Disgenet	Lysine degradation Metabolic pathways MAPK signaling pathway +4 more
		RTEL1	Unknown	—	Disgenet	Telomere Extension By Telomerase Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2	613989 C3151443 MONDO:0013521 OMIM:613989	TERT	Causal	—	CTD, ClinGen, ClinVar, Disgenet, GenCC, HPO	Human papillomavirus infection Human T-cell leukemia virus 1 infection Pathways in cancer +4 more
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3	613990 C3151445 MONDO:0013522 OMIM:613990	TINF2	Causal	18252230 18669893	CTD, ClinGen, ClinVar, Disgenet, HPO	Recognition and association of DNA glycosylase with site containing an affected purine Cleavage of the damaged purine Packaging Of Telomere Ends +2 more
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4	C3808802	RTEL1	Causal	—	Disgenet	Telomere Extension By Telomerase Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6	616553 C4225284 MONDO:0014690 OMIM:616553	ACD	Causal	20493811 25205116 25233904 27528712 30064976 33446513	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Recognition and association of DNA glycosylase with site containing an affected purine Cleavage of the damaged purine Packaging Of Telomere Ends +2 more
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE	C3502105 MESH:C565611	DCLRE1B	Unknown	—	Disgenet	Fanconi Anemia Pathway
		NHP2	Unknown	—	CTD, Disgenet	Ribosome biogenesis in eukaryotes Telomere Extension By Telomerase rRNA modification in the nucleus and cytosol
		NOP10	Unknown	—	CTD, Disgenet	Ribosome biogenesis in eukaryotes Telomere Extension By Telomerase rRNA modification in the nucleus and cytosol
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1	224230 MONDO:0009136 C1857144	NHP2	Causal	—	ClinVar, HPO	Ribosome biogenesis in eukaryotes Telomere Extension By Telomerase rRNA modification in the nucleus and cytosol
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1	224230 MONDO:0009136 C1857144	NOP10	Unknown	17507419 20008900	ClinVar, Disgenet, HPO	Ribosome biogenesis in eukaryotes Telomere Extension By Telomerase rRNA modification in the nucleus and cytosol
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2	613987 C3151441 MONDO:0013519 OMIM:613987	NHP2	Causal	18523010 20008900	CTD, ClinGen, ClinVar, Disgenet, HPO	Ribosome biogenesis in eukaryotes Telomere Extension By Telomerase rRNA modification in the nucleus and cytosol
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2	613987 C3151441 MONDO:0013519 OMIM:613987	RMND5B	Unknown	—	Disgenet	—
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3	613988 C3151442 MONDO:0013520 OMIM:613988	WRAP53	Causal	21205863 34599657 29514627 32303682	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Telomere Extension By Telomerase
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3	613988 C3151442 MONDO:0013520 OMIM:613988	TP53	Unknown	—	Disgenet	Endocrine resistance Platinum drug resistance MAPK signaling pathway +85 more
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4	C3151444	TERT	Unknown	—	Disgenet	Human papillomavirus infection Human T-cell leukemia virus 1 infection Pathways in cancer +4 more
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5	615190 C3554656 MONDO:0014076 OMIM:615190	RTEL1	Causal	23329068 23453664 23591994 23959892	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Telomere Extension By Telomerase Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
		ARFRP1	Unknown	—	Disgenet	Retrograde transport at the Trans-Golgi-Network
		TERT	Unknown	—	Disgenet	Human papillomavirus infection Human T-cell leukemia virus 1 infection Pathways in cancer +4 more
		TNFRSF6B	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction TNFs bind their physiological receptors
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6	616353 C4225356 MONDO:0014600 OMIM:616353	PARN	Causal	26810774 26482878 25893599	CTD, ClinVar, Disgenet, GWAS catalog, HPO	RNA degradation ATF4 activates genes in response to endoplasmic reticulum stress Deadenylation of mRNA +1 more
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7	C4225283	ACD	Causal	25205116 25233904	Disgenet	Recognition and association of DNA glycosylase with site containing an affected purine Cleavage of the damaged purine Packaging Of Telomere Ends +2 more
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 8	620133 C5774257 MONDO:0859319	DCLRE1B	Causal	—	ClinVar, Disgenet, GenCC, HPO	Fanconi Anemia Pathway
DYSKERATOSIS CONGENITA, DIGENIC	620040 C5774217 MONDO:0031057	TYMS	Causal	—	ClinVar, Disgenet, HPO	Pyrimidine metabolism One carbon pool by folate Metabolic pathways +5 more
DYSKERATOSIS CONGENITA, DIGENIC	620040 C5774217 MONDO:0031057	ENOSF1	Unknown	—	Disgenet	Fructose and mannose metabolism Metabolic pathways
DYSKERATOSIS CONGENITA, X-LINKED	305000 MONDO:0010584	DKC1	Causal	9590285 10583221 10700698	ClinGen, ClinVar, GWAS catalog, HPO	Ribosome biogenesis in eukaryotes Telomere Extension By Telomerase rRNA modification in the nucleus and cytosol

Dyskeratosis congenita

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