ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit)

Gene

• Entrez ID: 2068
• Gene name: ERCC excision repair 2, TFIIH core complex helicase subunit
• Gene symbol: ERCC2
• Synonyms (NCBI Gene): COFS2, CXPD, EM9, TFIIH, TTD, TTD1, XPD
• Chromosome: 19
• Chromosome location: 19q13.32
• Summary: The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex.

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1799792	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs41556519	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs121913016	G>C	Conflicting-interpretations-of-pathogenicity, not-provided, pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs121913017	G>A,C	Pathogenic	Coding sequence variant, missense variant, stop gained, non coding transcript variant, genic downstream transcript variant
rs121913018	C>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs121913019	T>C,G	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs121913020	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121913021	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs121913022	C>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs121913023	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs121913024	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs121913025	A>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs121913026	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs138038607	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, synonymous variant
rs144564120	G>C	Likely-pathogenic, not-provided, pathogenic	Missense variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs151235136	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs199658345	T>A	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs370454709	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs376556895	C>G,T	Pathogenic, not-provided	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs377532898	C>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained, non coding transcript variant
rs531021258	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs587778271	AA>-	Likely-pathogenic, pathogenic, not-provided	Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs746795177	T>C	Likely-pathogenic	Splice acceptor variant
rs750123656	TGA>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, inframe deletion
rs758439420	C>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs762309206	CACT>-	Likely-pathogenic	Coding sequence variant, intron variant, splice donor variant, non coding transcript variant
rs769146546	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs773359656	G>A,T	Likely-pathogenic	Synonymous variant, coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant
rs774768228	C>A,G	Pathogenic	Splice donor variant, genic downstream transcript variant
rs776705174	->A	Likely-pathogenic, uncertain-significance	Splice donor variant, genic downstream transcript variant
rs964247601	C>A,T	Pathogenic	Non coding transcript variant, missense variant, stop gained, coding sequence variant
rs1233791234	T>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1555775416	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic downstream transcript variant
rs1555776677	TAC>AA	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs1568546120	C>A	Pathogenic	Splice acceptor variant
rs1568546252	C>A	Pathogenic	Stop gained, 5 prime UTR variant, non coding transcript variant, coding sequence variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT050977	hsa-miR-17-5p	CLASH	23622248
MIRT036466	hsa-miR-1226-3p	CLASH	23622248
MIRT968362	hsa-miR-1226	CLIP-seq
MIRT968363	hsa-miR-1292	CLIP-seq
MIRT968364	hsa-miR-29a	CLIP-seq
MIRT968365	hsa-miR-29b	CLIP-seq
MIRT968366	hsa-miR-29c	CLIP-seq
MIRT968367	hsa-miR-31	CLIP-seq
MIRT968368	hsa-miR-3664-3p	CLIP-seq
MIRT968369	hsa-miR-3918	CLIP-seq
MIRT968370	hsa-miR-4432	CLIP-seq
MIRT968371	hsa-miR-4433	CLIP-seq
MIRT968372	hsa-miR-4459	CLIP-seq
MIRT968373	hsa-miR-4471	CLIP-seq
MIRT968374	hsa-miR-4640-5p	CLIP-seq
MIRT968375	hsa-miR-4645-5p	CLIP-seq
MIRT968376	hsa-miR-4646-5p	CLIP-seq
MIRT968377	hsa-miR-4673	CLIP-seq
MIRT968378	hsa-miR-4685-5p	CLIP-seq
MIRT968379	hsa-miR-4696	CLIP-seq
MIRT968380	hsa-miR-4726-5p	CLIP-seq
MIRT968381	hsa-miR-4733-3p	CLIP-seq
MIRT968382	hsa-miR-4742-5p	CLIP-seq
MIRT968383	hsa-miR-4755-3p	CLIP-seq
MIRT968384	hsa-miR-4768-3p	CLIP-seq
MIRT968385	hsa-miR-510	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HIF1A	Unknown	19934262

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000439	Component	Transcription factor TFIIH core complex	IDA	8692841, 8692842
GO:0000439	Component	Transcription factor TFIIH core complex	IEA
GO:0000462	Process	Maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IEA
GO:0001666	Process	Response to hypoxia	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003678	Function	DNA helicase activity	IBA
GO:0003678	Function	DNA helicase activity	IEA
GO:0003684	Function	Damaged DNA binding	IBA
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	7663514, 8652557, 10801852, 11445587, 16669699, 19934020, 20797633, 23585563, 23891004, 25416956, 27193682, 28178521, 35512704
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	20797633, 23585563
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005669	Component	Transcription factor TFIID complex	IDA	27193682
GO:0005675	Component	Transcription factor TFIIH holo complex	IDA	9852112
GO:0005675	Component	Transcription factor TFIIH holo complex	TAS	7663514
GO:0005737	Component	Cytoplasm	IDA	20797633, 23585563
GO:0005737	Component	Cytoplasm	IEA
GO:0005819	Component	Spindle	IDA	20797633
GO:0005819	Component	Spindle	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0006139	Process	Nucleobase-containing compound metabolic process	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006283	Process	Transcription-coupled nucleotide-excision repair	IDA	8663148
GO:0006283	Process	Transcription-coupled nucleotide-excision repair	TAS
GO:0006289	Process	Nucleotide-excision repair	IEA
GO:0006289	Process	Nucleotide-excision repair	IEA
GO:0006289	Process	Nucleotide-excision repair	IMP	8692841
GO:0006289	Process	Nucleotide-excision repair	NAS	2184031
GO:0006351	Process	DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	8692842
GO:0006362	Process	Transcription elongation by RNA polymerase I	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IBA
GO:0006366	Process	Transcription by RNA polymerase II	IDA	9852112
GO:0006366	Process	Transcription by RNA polymerase II	TAS	8663148
GO:0006367	Process	Transcription initiation at RNA polymerase II promoter	IDA	8692841
GO:0006915	Process	Apoptotic process	IMP	8675009
GO:0006974	Process	DNA damage response	IEA
GO:0006979	Process	Response to oxidative stress	IEA
GO:0006979	Process	Response to oxidative stress	IMP	17614221
GO:0007059	Process	Chromosome segregation	IEA
GO:0007059	Process	Chromosome segregation	IMP	20797633
GO:0008340	Process	Determination of adult lifespan	IEA
GO:0009411	Process	Response to UV	IEA
GO:0009650	Process	UV protection	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016818	Function	Hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0021510	Process	Spinal cord development	IEA
GO:0022405	Process	Hair cycle process	IEA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0030282	Process	Bone mineralization	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	IPI	11445587
GO:0032289	Process	Central nervous system myelin formation	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0035315	Process	Hair cell differentiation	IEA
GO:0035315	Process	Hair cell differentiation	IEA
GO:0035315	Process	Hair cell differentiation	IMP	11335038
GO:0040016	Process	Embryonic cleavage	IEA
GO:0042274	Process	Ribosomal small subunit biogenesis	IEA
GO:0043139	Function	5'-3' DNA helicase activity	IDA	8663148, 11445587
GO:0043139	Function	5'-3' DNA helicase activity	TAS
GO:0043249	Process	Erythrocyte maturation	IEA
GO:0043588	Process	Skin development	IEA
GO:0045951	Process	Positive regulation of mitotic recombination	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0048009	Process	Insulin-like growth factor receptor signaling pathway	IEA
GO:0048568	Process	Embryonic organ development	IEA
GO:0048820	Process	Hair follicle maturation	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IEA
GO:0060218	Process	Hematopoietic stem cell differentiation	IEA
GO:0070516	Component	CAK-ERCC2 complex	IDA	8692841, 8692842, 11445587
GO:0071425	Process	Hematopoietic stem cell proliferation	IEA
GO:0071817	Component	MMXD complex	IDA	20797633
GO:0072332	Process	Intrinsic apoptotic signaling pathway by p53 class mediator	IEA
GO:1901990	Process	Regulation of mitotic cell cycle phase transition	IMP	17088560

Other IDs

• MIM: 126340
• HGNC: 3434
• e!Ensembl: ENSG00000104884

Protein

• UniProt ID: P18074
• Protein name: General transcription and DNA repair factor IIH helicase subunit XPD (TFIIH subunit XPD) (EC 5.6.2.3) (Basic transcription factor 2 80 kDa subunit) (BTF2 p80) (CXPD) (DNA 5'-3' helicase XPD) (DNA excision repair protein ERCC-2) (DNA repair protein complem
• Protein function: ATP-dependent 5'-3' DNA helicase (PubMed:31253769, PubMed:8413672, PubMed:9771713). Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, not absolutely essential for minimal transcription in vitro (PubMed:100248
• PDB: 5IVW, 5IY6, 5IY7, 5IY8, 5IY9, 5OF4, 6NMI, 6O9L, 6O9M, 6RO4, 6TUN, 7AD8, 7EGB, 7EGC, 7ENA, 7ENC, 7LBM, 7NVR, 7NVW, 7NVX, 7NVY, 7NVZ, 7NW0, 8BVW, 8BYQ, 8EBS, 8EBT, 8EBU, 8EBV, 8EBW, 8EBX, 8EBY, 8GXQ, 8GXS, 8WAK, 8WAL, 8WAN, 8WAO, 8WAP, 8WAQ, 8WAR, 8WAS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06733	DEAD_2	72 → 256	DEAD_2	Family
  PF06777	HBB	269 → 413	Helical and beta-bridge domain	Domain
  PF13307	Helicase_C_2	524 → 700	Helicase C-terminal domain	Domain

• Sequence:

  MKLNVDGLLVYFPYDYIYPEQFSYMRELKRTLDAKGHGVLEMPSGTGKTVSLLALIMAYQ
  RAYPLEVTKLIYCSRTVPEIEKVIEELRKLLNFYEKQEGEKLPFLGLALSSRKNLCIHPE
  VTPLRFGKDVDGKCHSLTASYVRAQYQHDTSLPHCRFYEEFDAHGREVPLPAGIYNLDDL
  KALGRRQGWCPYFLARYSILHANVVVYSYHYLLDPKIADLVSKELARKAVVVFDEAHNID
  NVCIDSMSVNLTRRTLDRCQGNLETLQKTVLRIKETDEQRLRDEYRRLVEGLREASAARE
  TDAHLANPVLPDEVLQEAVPGSIRTAEHFLGFLRRLLEYVKWRLRVQHVVQESPPAFLSG
  LAQRVCIQRKPLRFCAERLRSLLHTLEITDLADFSPLTLLANFATLVSTYAKGFTIIIEP
  FDDRTPTIANPILHFSCMDASLAIKPVFERFQSVIITSGTLSPLDIYPKILDFHPVTMAT
  FTMTLARVCLCPMIIGRGNDQVAISSKFETREDIAVIRNYGNLLLEMSAVVPDGIVAFFT
  SYQYMESTVASWYEQGILENIQRNKLLFIETQDGAETSVALEKYQEACENGRGAILLSVA
  RGKVSEGIDFVHHYGRAVIMFGVPYVYTQSRILKARLEYLRDQFQIRENDFLTFDAMRHA
  AQCVGRAIRGKTDYGLMVFADKRFARGDKRGKLPRWIQEHLTDANLNLTVDEGVQVAKYF
  LRQMAQPFHREDQLGLSLLSLEQLESEETLKRIEQIAQQL

• Sequence length: 760

Pathways

KEGG:

Basal transcription factors
Nucleotide excision repair

Reactome:

Formation of RNA Pol II elongation complex
Formation of the Early Elongation Complex
Formation of Incision Complex in GG-NER
Dual Incision in GG-NER
RNA Polymerase II Pre-transcription Events
Formation of TC-NER Pre-Incision Complex
Transcription-Coupled Nucleotide Excision Repair (TC-NER)
Dual incision in TC-NER
Gap-filling DNA repair synthesis and ligation in TC-NER
TP53 Regulates Transcription of DNA Repair Genes
mRNA Capping
RNA Polymerase I Transcription Initiation
RNA Polymerase I Promoter Escape
RNA Polymerase II Promoter Escape
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
RNA Polymerase I Transcription Termination
RNA Polymerase II Transcription Initiation
RNA Polymerase II Transcription Elongation
RNA Polymerase II Transcription Initiation And Promoter Clearance
RNA Pol II CTD phosphorylation and interaction with CE

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cerebrooculofacioskeletal syndrome 2	Likely pathogenic; Pathogenic	rs1476160722, rs1971844960, rs1971844830, rs1360631927, rs778479250, rs774936846, rs2123286013, rs767747355, rs2123229548, rs752510317, rs587778271, rs144564120, rs762141272, rs199643821, rs1971989621, rs1327017125, rs756630156, rs766369300, rs760834687, rs1172840777, rs2514045040, rs2514012707, rs1412068236, rs375284572, rs542268504, rs2514033848, rs121913018, rs2513999168, rs758439420, rs748842373, rs140522180, rs866704383, rs2513999462, rs2123252188, rs2514002045, rs2514013864, rs996182477, rs2514013177, rs1555775708, rs767543274, rs2514043674, rs1971888879, rs773645934, rs2513998244, rs2514006464, rs753505084, rs1266915084, rs2514033986, rs2514000372, rs2514001984, rs2514029012, rs757535186, rs1971857332, rs1040480735, rs2513999160, rs199954405, rs1371008626, rs142184249, rs756781264, rs112910027, rs2514045659, rs2514006203, rs2514048526, rs2514030892, rs762622002, rs2514000214, rs775446858, rs1222622590, rs921743604, rs2513997612, rs769426415, rs2514030085, rs1266051315, rs2513997582, rs769795873, rs749200615, rs758758729, rs2514029566, rs1972523679, rs1050740821, rs947507401, rs2514000268, rs121913020, rs121913021, rs121913024, rs121913026, rs41556519, rs2123229638, rs201127596, rs2513999250, rs2513998080, rs2514033921, rs1599724778, rs1199957431, rs2513999476, rs1971847513, rs2514029053, rs2514035206, rs2514012697, rs2514000020, rs2514000375, rs2123313191, rs2514012713, rs772572683, rs2514023319, rs1185007661, rs2514006425, rs376556895, rs370454709, rs762309206, rs199658345, rs1233791234, rs774768228, rs1555775416, rs750123656, rs746795177, rs151235136, rs377532898, rs1599753508	RCV003471267 RCV003469558 RCV003470852 RCV005023184 RCV003470890 RCV003470891 RCV003470892 RCV003464133 RCV003470902 RCV003471050 RCV002498561 RCV005025191 RCV003471249 RCV003471163 RCV005023282 RCV003471274 RCV003470971 RCV003471277 RCV003471293 RCV005017184 RCV003471309 RCV004572734 RCV003465963 RCV003465960 RCV003465976 RCV004572795 RCV003466016 RCV003148116 RCV003463714 RCV003466048 RCV003459829 RCV004572936 RCV003467910 RCV003467911 RCV003467912 RCV003467913 RCV003460022 RCV003467915 RCV003467916 RCV003460023 RCV003460024 RCV003467917 RCV003467918 RCV003467919 RCV003467920 RCV003467921 RCV003475594 RCV003467922 RCV003467924 RCV003460025 RCV003467926 RCV003460026 RCV003467927 RCV003467928 RCV003467929 RCV003467930 RCV003467931 RCV003467932 RCV003467933 RCV003467934 RCV003467935 RCV003467936 RCV003460027 RCV003467937 RCV003467938 RCV003467939 RCV003460028 RCV003475595 RCV003467940 RCV003467941 RCV003475596 RCV003467942 RCV004574074 RCV005014772 RCV004574112 RCV004574131 RCV005014818 RCV004573218 RCV005014903 RCV004576382 RCV004573341 RCV004573351 RCV004573352 RCV005015078 RCV002490383 RCV003466865 RCV002482884 RCV000171547 RCV000677676 RCV000763053 RCV004573379 RCV003470317 RCV004576375 RCV004576376 RCV004576377 RCV004576378 RCV004576379 RCV004576380 RCV004576381 RCV004576383 RCV004576384 RCV004576385 RCV004576386 RCV004576387 RCV004576388 RCV004576389 RCV004576391 RCV004576392 RCV004576393 RCV004576396 RCV004576397 RCV000763054 RCV003470316 RCV003470390 RCV003470562 RCV003464103 RCV003459471 RCV000677677 RCV003465681 RCV004569485 RCV003461060 RCV004569852 RCV003469289
Cervical cancer	Likely pathogenic; Pathogenic	rs144564120	RCV005889474
Colon adenocarcinoma	Likely pathogenic; Pathogenic	rs144564120	RCV005889473
Craniopharyngioma	Likely pathogenic; Pathogenic	rs750123656	RCV000761139
ERCC2-related disorder	Likely pathogenic; Pathogenic	rs1476160722, rs587778271, rs144564120, rs762141272, rs760834687, rs773645934, rs121913026, rs1233791234, rs1555775416, rs151235136	RCV005635432 RCV004529999 RCV000778547 RCV004733445 RCV004527887 RCV005636939 RCV004532382 RCV005632435 RCV005632622 RCV000784900
Familial cancer of breast	Likely pathogenic; Pathogenic	rs144564120, rs760834687	RCV005889472 RCV005929958
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs41556519, rs376556895	RCV005638403 RCV005638488
Hypotrichosis simplex	Pathogenic	rs121913026	RCV001449816
Inflammatory bowel disease 1	Pathogenic	rs758439420	RCV004813082
Leukodystrophy	Likely pathogenic; Pathogenic	rs587778271	RCV003444202
Malignant tumor of urinary bladder	Pathogenic; Likely pathogenic	rs2123296002, rs2514030959, rs866704383, rs377532898	RCV003332935 RCV003332949 RCV003332952 RCV003332278
Melanoma	Likely pathogenic; Pathogenic	rs144564120	RCV005889476
Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified	Likely pathogenic; Pathogenic	rs144564120	RCV000761018
Ovarian cancer	Likely pathogenic; Pathogenic	rs121913021	RCV003153304
Ovarian serous cystadenocarcinoma	Likely pathogenic; Pathogenic	rs144564120	RCV005889475
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs773645934	RCV005927709
Trichothiodystrophy	Pathogenic; Likely pathogenic	rs756630156, rs375284572, rs121913026, rs769146546	RCV003987919 RCV004783010 RCV001199920 RCV000785056
Trichothiodystrophy 1, photosensitive	Likely pathogenic; Pathogenic	rs1971844960, rs1360631927, rs778479250, rs774936846, rs2123286013, rs121913021, rs752510317, rs587778271, rs144564120, rs199643821, rs1971989621, rs1327017125, rs756630156, rs766369300, rs1172840777, rs2514045040, rs2513994806, rs1412068236, rs2513999168, rs758439420, rs140522180, rs773645934, rs1971857332, rs2514030085, rs769795873, rs758758729, rs2514000268, rs121913018, rs121913020, rs121913024, rs121913026, rs41556519, rs2514033921, rs772572683, rs1185007661, rs376556895, rs370454709, rs762309206, rs199658345, rs1233791234, rs750123656, rs151235136	RCV005023054 RCV005023184 RCV002291301 RCV005014652 RCV005014653 RCV001799560 RCV003992580 RCV002498561 RCV001329855 RCV005016946 RCV005023282 RCV005017081 RCV002292382 RCV005017086 RCV005017184 RCV005017185 RCV002292387 RCV005028233 RCV003148117 RCV002487166 RCV005021903 RCV005030037 RCV005030038 RCV005014772 RCV005014818 RCV005014903 RCV005015078 RCV000018270 RCV000018273 RCV000018275 RCV005016278 RCV000018283 RCV000763053 RCV005023578 RCV005023579 RCV005023580 RCV000763054 RCV005025467 RCV000454337 RCV005018808 RCV005027593 RCV005029410 RCV005029440
Xeroderma pigmentosum	Likely pathogenic; Pathogenic	rs1476160722, rs587778271, rs144564120, rs1172840777, rs2514045040, rs748842373, rs140522180, rs1971857332, rs121913018, rs121913019, rs121913024, rs772572683, rs376556895, rs370454709, rs762309206, rs1233791234, rs750123656, rs746795177	RCV002222747 RCV003230409 RCV003114266 RCV002283407 RCV002281878 RCV003236423 RCV003317740 RCV004765844 RCV003155035 RCV005887538 RCV002468972 RCV004587649 RCV001195426 RCV002256206 RCV003155181 RCV004525954 RCV003226381 RCV004800582
Xeroderma pigmentosum, group D	Likely pathogenic; Pathogenic	rs1971844960, rs754967981, rs1360631927, rs774936846, rs2123286013, rs767747355, rs121913021, rs587778271, rs144564120, rs199643821, rs1971989621, rs1327017125, rs756630156, rs766369300, rs2123288444, rs1172840777, rs2514045040, rs1412068236, rs1399608577, rs2513999168, rs758439420, rs140522180, rs773645934, rs1971857332, rs2514030085, rs769795873, rs758758729, rs2514000268, rs121913017, rs121913018, rs121913019, rs121913020, rs121913024, rs2123229159, rs121913025, rs121913026, rs41556519, rs201127596, rs2514033921, rs772572683, rs1185007661, rs376556895, rs370454709, rs762309206, rs199658345, rs1233791234, rs750123656, rs964247601, rs1568546252, rs1568546120, rs746795177, rs151235136	RCV001329854 RCV001507019 RCV003994304 RCV005014652 RCV005014653 RCV002266015 RCV001799560 RCV000778548 RCV000990227 RCV005016946 RCV005023282 RCV005017081 RCV005014727 RCV005017086 RCV002249940 RCV005017184 RCV005017185 RCV005028233 RCV003142435 RCV003148115 RCV000248679 RCV005021903 RCV005030037 RCV005030038 RCV005014772 RCV005014818 RCV005014903 RCV005015078 RCV000018269 RCV002490383 RCV000018272 RCV000018274 RCV002482884 RCV000018278 RCV000018281 RCV000018282 RCV000763052 RCV000018284 RCV000260066 RCV005023578 RCV005023579 RCV005023580 RCV000312948 RCV005025467 RCV000454224 RCV005018808 RCV005027593 RCV005029410 RCV000770817 RCV000770818 RCV000770816 RCV000778549 RCV005029440

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cerebrooculofacioskeletal syndrome 1	Uncertain significance	rs200665173	RCV000662069
Cholangiocarcinoma	Benign	rs238418, rs1618536	RCV005916901 RCV005925078
Colorectal cancer	Conflicting classifications of pathogenicity	rs34517175	RCV005889469
Corpus callosum, agenesis of	Conflicting classifications of pathogenicity	rs763701580	RCV001391262
Gastric cancer	Benign	rs238418	RCV005916900
Hepatoblastoma	Conflicting classifications of pathogenicity	rs142936491	RCV001843479
Ketotic hypoglycemia	Uncertain significance	rs200665173	RCV005241238
Lung cancer	Uncertain significance	rs2514048618	RCV005931821
Malignant lymphoma, large B-cell, diffuse	Benign	rs238418	RCV005916899
Malignant tumor of esophagus	Uncertain significance	rs367741538	RCV005922498
Neoplasm	Uncertain significance	rs140522180	RCV005229924
Sarcoma	Likely benign	rs3916885	RCV005929544
Uterine carcinosarcoma	Benign; Likely benign	rs1618536, rs3916885	RCV005925077 RCV005929546
Uveal melanoma	Benign	rs238405	RCV005923459
Xeroderma pigmentosum, group C	Uncertain significance	rs1249549942	RCV004527487

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	17705814, 18349297, 18478337, 22479369, 26001533, 37006075
Adenocarcinoma of Lung	Associate	20003391, 23700156, 33827099
Adenoma	Associate	16542436
Adenomatous Polyposis Coli	Associate	39519399
Alzheimer Disease	Associate	33630843
Anemia	Associate	25881102, 34967559
Anxiety	Associate	34284736
Arsenic Poisoning	Associate	31864032
Bone Diseases	Associate	23232694
Bone Diseases Metabolic	Associate	36103153
Brain Neoplasms	Associate	23661361
Breast Neoplasms	Associate	16280050, 16672066, 17683639, 18415712, 18454848, 18534129, 18701435, 18752184, 19051060, 19615095, 20508946, 21700777, 21751184, 25117088, 26946191, 26985954, 27768589, 29209986, 29544444, 35834270, 36594475
Breast Neoplasms	Stimulate	21751184, 27768589
Calcinosis Cutis	Associate	27479538
Carcinogenesis	Associate	19846926, 20564624, 26130668, 26295053, 30429230
Carcinoma Adenoid Cystic	Associate	40184085
Carcinoma Basal Cell	Associate	15729710
Carcinoma Hepatocellular	Associate	23167354, 23534753, 24938468, 25113251, 25337275, 26031757, 26967386, 30409962, 32277685
Carcinoma Hepatocellular	Inhibit	33993564
Carcinoma Non Small Cell Lung	Associate	15882455, 16407418, 16649224, 22052224, 22479369, 22551904, 22938424, 23534713, 23617284, 24446315, 25596702, 26124006, 26159902, 27465648, 30066234, 30844146, 33827099, 37787291
Carcinoma Ovarian Epithelial	Associate	18081788
Carcinoma Renal Cell	Inhibit	18711149
Carcinoma Renal Cell	Associate	18711149, 26682510, 37996508
Carcinoma Small Cell	Associate	35662501
Carcinoma Squamous Cell	Associate	19554020, 22760492, 23335232, 33827099
Carcinoma Squamous Cell	Inhibit	29362353, 33827099
Cardiotoxicity	Associate	24284041
Cardiovascular Diseases	Associate	31924810
Cataract	Associate	21245954, 24868140
Cataract Age Related Nuclear	Associate	21245954, 24868140
Cerebrooculofacioskeletal Syndrome 1	Associate	23161009
Chemical and Drug Induced Liver Injury	Associate	21627375
Chest Pain	Associate	34284736
Cholangiocarcinoma	Associate	29271183
Chorea	Stimulate	38040034
Cockayne Syndrome	Stimulate	10064601
Cockayne Syndrome	Associate	10644710, 10698956, 10786832, 11443545, 11710928, 15982307, 16135823, 16246722, 17088560, 21965540, 23161009, 23267107, 23935105, 24781187, 25268380, 27004399, 27396511, 28902838, 34096589, 36308430, 39976384, 7963680, 8754844, 9012405, 9238033, 9278484, 9422774
Cognition Disorders	Stimulate	38040034
Colorectal Neoplasms	Associate	15679883, 18267032, 18797464, 20078613, 20559012, 22994779, 23317245, 23894404, 24157118, 24531312, 25391773, 25835182, 30429230, 31395900, 31756062, 31988591, 32277685, 32397974
Colorectal Neoplasms	Stimulate	29568775
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	9012405
Coxa Valga	Associate	36103153
Cyclic neutropenia	Associate	26475344
Death	Associate	15339847, 22938424, 23098477, 23317245, 23317281, 23407396, 24023723, 24938468, 26191265, 26436406, 26475344, 26918827, 27340861, 27460091, 27465648, 37798436
Deglutition Disorders	Associate	34284736
Demyelinating Autoimmune Diseases CNS	Associate	39976384
Demyelinating Diseases	Associate	29451896, 39976384, 7963680
Depressive Disorder	Associate	34284736
Developmental Disabilities	Associate	26996949, 39976384
Diabetes Mellitus Type 2	Associate	29886452
Disease	Associate	26191265
DNA Repair Deficiency Disorders	Associate	15009740, 19615095
Drug Related Side Effects and Adverse Reactions	Associate	17197435, 23096768, 24284041, 25881102, 26475344, 28376765, 34967559
Dyskeratosis Congenita	Associate	23935105
Dystonia	Stimulate	38040034
Early Onset Glaucoma	Associate	27460091
Endometrial Hyperplasia	Associate	30275440
Endometrial Neoplasms	Associate	22544315, 25113251, 26349749
Erythema	Associate	22537351
Esophageal Neoplasms	Associate	19620936
Esophageal Squamous Cell Carcinoma	Inhibit	20128036, 32377720
Esophageal Squamous Cell Carcinoma	Associate	20128036, 24390613
Eye Neoplasms	Associate	32397974
Fanconi Anemia	Associate	20137776
Farber Lipogranulomatosis	Associate	20508946
Feeding and Eating Disorders	Associate	34284736
Gallbladder Neoplasms	Associate	20564624, 21283657
Gastrointestinal Diseases	Associate	34967559
Gastrointestinal Neoplasms	Associate	40377615
Gastrointestinal Stromal Tumors	Associate	27460091
Genetic Diseases Inborn	Associate	10673506, 20137776, 28902838, 9278484, 9422774
Gerodermia osteodysplastica	Associate	32868381
Glaucoma	Associate	21617750
Glaucoma Angle Closure	Associate	21617750
Glaucoma Open Angle	Associate	21617750
Glioblastoma	Inhibit	19318434
Glioblastoma	Associate	19318434
Glioma	Associate	16212814, 22938460, 23534771, 24634177, 24782032, 27323065, 8583241
Gliosis	Associate	24252196
Growth Disorders	Associate	23232694
HAIR AN syndrome	Inhibit	32197467
Hair Diseases	Associate	7629061
Hamartoma Syndrome Multiple	Associate	17466625, 20797633, 29684080
Head and Neck Neoplasms	Associate	22081374, 24487794, 25916209, 28686330, 32546699
Hearing Disorders	Associate	26918827
Hearing Loss Sensorineural	Stimulate	24252196
Hearing Loss Sensorineural	Associate	34627174
HELLP Syndrome	Associate	22617342
Hematologic Diseases	Associate	17410042
Hepatic Veno Occlusive Disease	Associate	21999595
Hereditary Breast and Ovarian Cancer Syndrome	Associate	18454848, 27504877, 32481313
Hereditary Sensory and Autonomic Neuropathies	Stimulate	34627174
Hip Dislocation	Associate	36103153
Hirschsprung Disease	Associate	26314858
Hodgkin Disease	Associate	19280628
Hyperkinesis	Associate	7963680
Hypertension	Associate	29886452
Hypospadias	Associate	33711971
Ichthyosis	Associate	33670118, 39976384, 7629061
Ichthyosis prematurity syndrome	Associate	36308430
Immune System Diseases	Associate	11737070
Immunologic Deficiency Syndromes	Associate	11737070, 31455402, 8194528
Infarction Anterior Cerebral Artery	Associate	22277767
Infections	Associate	26475344
Intellectual Disability	Associate	7629061, 7963680
Kidney Diseases	Associate	36418822
Kidney Failure Chronic	Associate	25310768
Laryngeal Neoplasms	Associate	26617899
Leigh Disease	Associate	35662501
Leukemia	Associate	25113251
Leukemia Lymphocytic Chronic B Cell	Associate	22739018
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	24955348
Leukemia Myeloid Acute	Associate	15339847, 16150943, 17023576, 17197435, 20141440, 21951951, 24284041, 26779634, 31647372
Leukopenia	Associate	34967559
Lung Neoplasms	Associate	17705814, 18709642, 20514470, 25113251, 26159902, 27183913, 27819744, 32277685, 32711437, 34284736, 37006075
Lung Neoplasms	Inhibit	18709642
Lupus Erythematosus Systemic	Associate	27492607
Lymphatic Metastasis	Associate	30844146
Lymphoma B Cell	Associate	25400036
Lymphoma Large B Cell Diffuse	Associate	23619945, 30279407
Lymphoma Non Hodgkin	Associate	23619945
Lymphopenia	Associate	11737070
Margins of Excision	Associate	11737070, 17466626, 26996949, 27004399, 37996508, 39523403, 8194528
Medulloblastoma	Associate	27607585, 28376765
Melanoma	Associate	14735199, 16258177, 21390047, 23407396, 25113251
Melanoma Cutaneous Malignant	Associate	14735199, 21390047, 23494240
Meningioma	Associate	23534771
Mesothelioma Malignant	Associate	28422153
Mouth Diseases	Inhibit	31450912
Mouth Neoplasms	Associate	31450912, 36149156
Multiple Myeloma	Associate	22183071
Multiple System Atrophy	Associate	25605938
Muscular Atrophy Spinal	Associate	10673506
Muscular Disorders Atrophic	Associate	24252196
Musculoskeletal Abnormalities	Associate	36103153
Myelodysplastic Syndromes	Associate	28472728
Nasopharyngeal Carcinoma	Associate	24761895, 26086338, 29121049
Nasopharyngeal Neoplasms	Associate	24761895
Nausea	Associate	26918827
Neoplasms	Associate	10655513, 11239393, 11710928, 15009740, 15679883, 16030124, 16542436, 16880786, 17695467, 18267032, 18470933, 18534129, 18544627, 18588689, 19902366, 20431719, 21586140, 22544315, 23028604, 23167354, 23894404, 24121791, 25113251, 25605938, 26682510, 26918827, 27183913, 27460091, 27504877, 28902838, 29140456, 29209986, 29544444, 29684080, 31450912, 31924810, 32277685, 32364878, 32496904, 32711437, 32868381, 33199492, 36308430, 37798436, 40377615, 40526606, 9012405
Neoplasms	Inhibit	26031757, 8583241
Neoplasms	Stimulate	26649138
Neoplasms Basal Cell	Associate	18081788
Neoplasms Second Primary	Associate	35834270
Neoplasms Squamous Cell	Associate	27246611
Neoplastic Syndromes Hereditary	Associate	20208140, 9278484
Nephrotic Syndrome	Associate	27396511
Nerve Degeneration	Stimulate	24252196
Nervous System Diseases	Stimulate	24252196
Nervous System Diseases	Associate	34627174
Neuroblastoma	Associate	30089098
Neurodegenerative Diseases	Associate	24252196, 36308430
Neurologic Manifestations	Associate	34627174, 7963680
Neurologic Manifestations	Stimulate	38040034
Neuroma Acoustic	Stimulate	20150366
Neuroma Acoustic	Associate	20150366
Neurotoxicity Syndromes	Associate	25881102
Neutropenia	Associate	16649224, 17410042, 19470925, 34967559
Niemann Pick Disease Type C	Associate	24761895, 29912899
Non Muscle Invasive Bladder Neoplasms	Associate	16880786, 25096233, 30290956, 33024200, 35833951, 37870965, 39817975
Obsessive Compulsive Disorder	Inhibit	29264886
Oculocerebrorenal Syndrome	Associate	11443545
Oligodendroglioma	Associate	15834925
Osteosarcoma	Inhibit	21826087
Osteosarcoma	Associate	21826087, 23098477, 23317281, 25824708, 26400354, 26436406, 29980176
Osteosclerosis	Associate	36103153
Ovarian Dysgenesis 2	Associate	36196709
Ovarian Neoplasms	Associate	16677755, 18081788, 24615029, 25113251, 25881102, 27449101, 28122348, 29669843, 39699591
Ovarian Neoplasms	Stimulate	29669843
Pain	Associate	34284736
Pallor	Associate	24252196
Pancreatic Neoplasms	Associate	16458430, 18544627, 26617894, 27051038
Papillomavirus Infections	Associate	37461056
Pelizaeus Merzbacher like disease autosomal recessive 2	Associate	39976384
Pena Shokeir syndrome type 1	Associate	38040034
Placenta Diseases	Associate	22234153
Polyostotic osteolytic dysplasia hereditary expansile	Associate	26314858
Polyposis Syndrome Hereditary Mixed 1	Associate	16542436
Pre Eclampsia	Associate	22234153
Pregnancy Complications	Associate	22234153
Prodromal Symptoms	Associate	32397974, 34862210
Prostatic Neoplasms	Associate	17695467, 23028604, 23936089, 24289586, 27974699, 28206966, 32277685
Pterygium	Associate	20431719
Rectal Neoplasms	Associate	23894404
Reflex Abnormal	Stimulate	38040034
Reinjuries	Associate	32496904
Renal Insufficiency Chronic	Associate	31924810
Respiratory Tract Infections	Associate	36818471
Sabinas brittle hair syndrome	Associate	33711971
Skin Diseases	Associate	17470448
Skin Neoplasms	Associate	11710928, 15009740, 17687452, 23232694, 26295053, 8194528, 9192652, 9427533
Skin Neoplasms	Inhibit	17687452
Small Cell Lung Carcinoma	Associate	37006075, 39735668
Spastic paraplegia 23	Associate	23232694
Squamous Cell Carcinoma of Head and Neck	Associate	19615095, 21890746, 26918827, 33714009, 37798436
Squamous Cell Carcinoma of Head and Neck	Inhibit	22081374
Stomach Neoplasms	Associate	17009404, 24023723, 25542228, 26097599, 26191265, 26823845, 27340861, 30225185, 31077069
Sunburn	Associate	17470448
T Lymphocytopenia Idiopathic CD4 Positive	Associate	11737070
Tachycardia Atrioventricular Nodal Reentry	Associate	31450912
Thrombocytopenia	Associate	25881102, 32397974, 34967559
Trichothiodystrophy Syndromes	Stimulate	10064601
Trichothiodystrophy Syndromes	Associate	11443545, 11737070, 15009740, 16135823, 18470933, 18579452, 22234153, 22617342, 23161009, 23232694, 23382212, 25268380, 25290684, 25605938, 25620205, 26340423, 26996949, 28902838, 30580289, 33711971, 35615778, 36103153, 36308430, 39976384, 7629061, 7963680, 8571952, 9012405, 9192652, 9238033, 9422774, 9758621
Triple Negative Breast Neoplasms	Stimulate	24402573
Triple Negative Breast Neoplasms	Associate	24402573, 27527855
Urethral Neoplasms	Associate	25096233
Urinary Bladder Neoplasms	Associate	16465622, 17898541, 19414392, 19846926, 19908385, 20514470, 21426550, 26649138, 33208343, 33849962, 36818471, 37870965, 37996508, 39192988, 39523403
Uterine Cervical Neoplasms	Stimulate	22760492
Uterine Cervical Neoplasms	Associate	26130668
UV Sensitive Syndrome	Associate	11443545, 27004399, 9758621
Vomiting	Associate	28686330
Williams Syndrome	Associate	16288211
X Linked Combined Immunodeficiency Diseases	Associate	11737070
Xeroderma Pigmentosum	Stimulate	10064601
Xeroderma Pigmentosum	Associate	10644710, 10698956, 11239393, 11710928, 15009740, 15494306, 15982307, 16030124, 16135823, 17088560, 1729695, 17466625, 17466626, 18470933, 18579452, 18637129, 18927284, 20137776, 20208140, 21157430, 22234153, 22617342, 23161009, 23232694, 23267107, 23623389, 23935105, 25268380, 26340423, 26996949, 27396511, 28902838, 33464383, 35977011, 36308430, 7629061, 7963680, 8194528, 8675009, 9238033, 9278484, 9422774
Xeroderma Pigmentosum	Inhibit	9557707
Xeroderma Pigmentosum B Cockayne Syndrome	Associate	15982307, 25500814
Xeroderma Pigmentosum Complementation Group B	Associate	11239393
Xeroderma Pigmentosum Complementation Group D	Associate	11443545, 15009740, 15982307, 1729695, 23267107, 23352696, 8571952, 9192652
Xeroderma Pigmentosum Type G Cockayne Syndrome	Associate	23083890
ZAP70 deficiency	Associate	11737070