XPC (XPC complex subunit, DNA damage recognition and repair factor)

Gene

• Entrez ID: 7508
• Gene name: XPC complex subunit, DNA damage recognition and repair factor
• Gene symbol: XPC
• Synonyms (NCBI Gene): RAD4, XP3, XPCC, p125
• Chromosome: 3
• Chromosome location: 3p25.1
• Summary: The protein encoded by this gene is a key component of the XPC complex, which plays an important role in the early steps of global genome nucleotide excision repair (NER). The encoded protein is important for damage sensing and DNA binding, and shows a pr

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2228001	G>C,T	Benign, likely-benign, drug-response	Non coding transcript variant, coding sequence variant, missense variant
rs121965088	G>A	Pathogenic	Non coding transcript variant, stop gained, intron variant, coding sequence variant
rs201940931	T>C,G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs373519125	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, non coding transcript variant, stop gained
rs374117852	T>A	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs745679643	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs746250060	T>A,C	Likely-pathogenic	Stop gained, missense variant, coding sequence variant, non coding transcript variant
rs752030576	CT>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs752088918	AT>-	Conflicting-interpretations-of-pathogenicity, pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs754197041	C>A,T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained, missense variant
rs754532049	CA>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs755825264	G>A,C	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, missense variant, stop gained
rs757958943	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs764321665	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs764480429	C>T	Likely-pathogenic	Splice donor variant, intron variant
rs767569346	G>A,C,T	Pathogenic	Synonymous variant, non coding transcript variant, intron variant, stop gained, coding sequence variant
rs794729654	TT>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs794729655	A>C	Pathogenic	Splice donor variant, intron variant
rs794729656	A>G,T	Pathogenic	Intron variant
rs794729657	T>C,G	Pathogenic	Intron variant
rs867461743	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs869025275	C>T	Likely-pathogenic	Splice acceptor variant, non coding transcript variant
rs975121308	C>A,T	Likely-pathogenic	Splice donor variant
rs1208223013	->C	Likely-pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1228981894	CT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant
rs1260189637	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1326646197	C>G	Likely-pathogenic	Splice acceptor variant
rs1330667099	CACT>-	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant
rs1402162002	TC>-	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, frameshift variant
rs1450238352	TT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1553605023	C>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553605497	G>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1553605655	G>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1553605761	->T	Pathogenic, likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1553605795	AG>-	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553605805	->A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553605813	TTTAT>-	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553605871	->G	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1553605894	T>C	Likely-pathogenic	Splice acceptor variant
rs1553605973	->A	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1553606767	->A	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1553606979	GT>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1553607144	->T	Likely-pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1553607419	T>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs1553607744	C>T	Likely-pathogenic	Splice donor variant
rs1553607773	G>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs1559374923	C>G	Pathogenic	Splice donor variant, intron variant
rs1574963068	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1574972784	AA>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020495	hsa-miR-155-5p	Proteomics	18668040
MIRT050279	hsa-miR-25-3p	CLASH	23622248
MIRT1496095	hsa-miR-103a	CLIP-seq
MIRT1496096	hsa-miR-1285	CLIP-seq
MIRT1496097	hsa-miR-141	CLIP-seq
MIRT1496098	hsa-miR-142-3p	CLIP-seq
MIRT1496099	hsa-miR-15a	CLIP-seq
MIRT1496100	hsa-miR-15b	CLIP-seq
MIRT1496101	hsa-miR-16	CLIP-seq
MIRT1496102	hsa-miR-1827	CLIP-seq
MIRT1496103	hsa-miR-1915	CLIP-seq
MIRT1496104	hsa-miR-195	CLIP-seq
MIRT1496105	hsa-miR-200a	CLIP-seq
MIRT1496106	hsa-miR-214	CLIP-seq
MIRT1496107	hsa-miR-2861	CLIP-seq
MIRT1496108	hsa-miR-298	CLIP-seq
MIRT1496109	hsa-miR-3143	CLIP-seq
MIRT1496110	hsa-miR-3151	CLIP-seq
MIRT1496111	hsa-miR-3152-5p	CLIP-seq
MIRT1496112	hsa-miR-3187-5p	CLIP-seq
MIRT1496113	hsa-miR-325	CLIP-seq
MIRT1496114	hsa-miR-3612	CLIP-seq
MIRT1496115	hsa-miR-3619-5p	CLIP-seq
MIRT1496116	hsa-miR-3665	CLIP-seq
MIRT1496117	hsa-miR-3919	CLIP-seq
MIRT1496118	hsa-miR-3934	CLIP-seq
MIRT1496119	hsa-miR-3943	CLIP-seq
MIRT1496120	hsa-miR-3945	CLIP-seq
MIRT1496121	hsa-miR-424	CLIP-seq
MIRT1496122	hsa-miR-4253	CLIP-seq
MIRT1496123	hsa-miR-4266	CLIP-seq
MIRT1496124	hsa-miR-4291	CLIP-seq
MIRT1496125	hsa-miR-4297	CLIP-seq
MIRT1496126	hsa-miR-4436b-3p	CLIP-seq
MIRT1496127	hsa-miR-4447	CLIP-seq
MIRT1496128	hsa-miR-4456	CLIP-seq
MIRT1496129	hsa-miR-4472	CLIP-seq
MIRT1496130	hsa-miR-4505	CLIP-seq
MIRT1496131	hsa-miR-4637	CLIP-seq
MIRT1496132	hsa-miR-4666-3p	CLIP-seq
MIRT1496133	hsa-miR-4685-5p	CLIP-seq
MIRT1496134	hsa-miR-4695-5p	CLIP-seq
MIRT1496135	hsa-miR-4727-3p	CLIP-seq
MIRT1496136	hsa-miR-4736	CLIP-seq
MIRT1496137	hsa-miR-4774-3p	CLIP-seq
MIRT1496138	hsa-miR-4775	CLIP-seq
MIRT1496139	hsa-miR-4779	CLIP-seq
MIRT1496140	hsa-miR-486-3p	CLIP-seq
MIRT1496141	hsa-miR-491-5p	CLIP-seq
MIRT1496142	hsa-miR-497	CLIP-seq
MIRT1496143	hsa-miR-541	CLIP-seq
MIRT1496144	hsa-miR-543	CLIP-seq
MIRT1496145	hsa-miR-582-3p	CLIP-seq
MIRT1496146	hsa-miR-590-3p	CLIP-seq
MIRT1496147	hsa-miR-601	CLIP-seq
MIRT1496148	hsa-miR-612	CLIP-seq
MIRT1496149	hsa-miR-628-3p	CLIP-seq
MIRT1496150	hsa-miR-650	CLIP-seq
MIRT1496151	hsa-miR-654-5p	CLIP-seq
MIRT1496152	hsa-miR-761	CLIP-seq
MIRT1496153	hsa-miR-922	CLIP-seq
MIRT1496095	hsa-miR-103a	CLIP-seq
MIRT1496154	hsa-miR-1262	CLIP-seq
MIRT1496097	hsa-miR-141	CLIP-seq
MIRT1496105	hsa-miR-200a	CLIP-seq
MIRT1496155	hsa-miR-3660	CLIP-seq
MIRT1496156	hsa-miR-4292	CLIP-seq
MIRT1496157	hsa-miR-4526	CLIP-seq
MIRT1496132	hsa-miR-4666-3p	CLIP-seq
MIRT1496158	hsa-miR-4701-3p	CLIP-seq
MIRT2149359	hsa-miR-4328	CLIP-seq
MIRT2149360	hsa-miR-501-3p	CLIP-seq
MIRT2149361	hsa-miR-502-3p	CLIP-seq
MIRT2149362	hsa-miR-767-5p	CLIP-seq
MIRT1496153	hsa-miR-922	CLIP-seq
MIRT1496111	hsa-miR-3152-5p	CLIP-seq
MIRT1496137	hsa-miR-4774-3p	CLIP-seq
MIRT1496102	hsa-miR-1827	CLIP-seq
MIRT1496145	hsa-miR-582-3p	CLIP-seq
MIRT1496102	hsa-miR-1827	CLIP-seq
MIRT1496108	hsa-miR-298	CLIP-seq
MIRT1496114	hsa-miR-3612	CLIP-seq
MIRT1496123	hsa-miR-4266	CLIP-seq
MIRT1496134	hsa-miR-4695-5p	CLIP-seq
MIRT1496139	hsa-miR-4779	CLIP-seq
MIRT1496147	hsa-miR-601	CLIP-seq
MIRT1496150	hsa-miR-650	CLIP-seq
MIRT1496095	hsa-miR-103a	CLIP-seq
MIRT2663408	hsa-miR-1245b-3p	CLIP-seq
MIRT2663409	hsa-miR-1266	CLIP-seq
MIRT2663410	hsa-miR-1281	CLIP-seq
MIRT1496096	hsa-miR-1285	CLIP-seq
MIRT1496098	hsa-miR-142-3p	CLIP-seq
MIRT1496099	hsa-miR-15a	CLIP-seq
MIRT1496100	hsa-miR-15b	CLIP-seq
MIRT1496101	hsa-miR-16	CLIP-seq
MIRT1496102	hsa-miR-1827	CLIP-seq
MIRT1496103	hsa-miR-1915	CLIP-seq
MIRT1496104	hsa-miR-195	CLIP-seq
MIRT2663411	hsa-miR-197	CLIP-seq
MIRT2663412	hsa-miR-1973	CLIP-seq
MIRT1496106	hsa-miR-214	CLIP-seq
MIRT2663413	hsa-miR-217	CLIP-seq
MIRT2663414	hsa-miR-2467-3p	CLIP-seq
MIRT2663415	hsa-miR-2682	CLIP-seq
MIRT2663416	hsa-miR-28-3p	CLIP-seq
MIRT1496107	hsa-miR-2861	CLIP-seq
MIRT2663417	hsa-miR-3148	CLIP-seq
MIRT1496110	hsa-miR-3151	CLIP-seq
MIRT1496111	hsa-miR-3152-5p	CLIP-seq
MIRT2663418	hsa-miR-3158-5p	CLIP-seq
MIRT1496112	hsa-miR-3187-5p	CLIP-seq
MIRT2663419	hsa-miR-34a	CLIP-seq
MIRT2663420	hsa-miR-34c-5p	CLIP-seq
MIRT2663421	hsa-miR-3605-3p	CLIP-seq
MIRT2663422	hsa-miR-3616-3p	CLIP-seq
MIRT1496115	hsa-miR-3619-5p	CLIP-seq
MIRT2663423	hsa-miR-3655	CLIP-seq
MIRT2663424	hsa-miR-3661	CLIP-seq
MIRT1496116	hsa-miR-3665	CLIP-seq
MIRT2663425	hsa-miR-3677-5p	CLIP-seq
MIRT2663426	hsa-miR-3678-3p	CLIP-seq
MIRT2663427	hsa-miR-3682-5p	CLIP-seq
MIRT1496117	hsa-miR-3919	CLIP-seq
MIRT1496118	hsa-miR-3934	CLIP-seq
MIRT1496119	hsa-miR-3943	CLIP-seq
MIRT1496120	hsa-miR-3945	CLIP-seq
MIRT2663428	hsa-miR-3978	CLIP-seq
MIRT1496121	hsa-miR-424	CLIP-seq
MIRT1496122	hsa-miR-4253	CLIP-seq
MIRT2663429	hsa-miR-4271	CLIP-seq
MIRT1496124	hsa-miR-4291	CLIP-seq
MIRT1496125	hsa-miR-4297	CLIP-seq
MIRT2663430	hsa-miR-4310	CLIP-seq
MIRT2149359	hsa-miR-4328	CLIP-seq
MIRT2663431	hsa-miR-4418	CLIP-seq
MIRT2663432	hsa-miR-4432	CLIP-seq
MIRT1496126	hsa-miR-4436b-3p	CLIP-seq
MIRT1496127	hsa-miR-4447	CLIP-seq
MIRT1496129	hsa-miR-4472	CLIP-seq
MIRT2663433	hsa-miR-449a	CLIP-seq
MIRT2663434	hsa-miR-449b	CLIP-seq
MIRT2663435	hsa-miR-449c	CLIP-seq
MIRT1496130	hsa-miR-4505	CLIP-seq
MIRT2663436	hsa-miR-4518	CLIP-seq
MIRT2663437	hsa-miR-4530	CLIP-seq
MIRT1496133	hsa-miR-4685-5p	CLIP-seq
MIRT2663438	hsa-miR-4698	CLIP-seq
MIRT2663439	hsa-miR-4721	CLIP-seq
MIRT2663440	hsa-miR-4725-3p	CLIP-seq
MIRT1496135	hsa-miR-4727-3p	CLIP-seq
MIRT2663441	hsa-miR-4733-3p	CLIP-seq
MIRT1496136	hsa-miR-4736	CLIP-seq
MIRT2663442	hsa-miR-4747-5p	CLIP-seq
MIRT1496137	hsa-miR-4774-3p	CLIP-seq
MIRT1496140	hsa-miR-486-3p	CLIP-seq
MIRT2663443	hsa-miR-486-5p	CLIP-seq
MIRT1496141	hsa-miR-491-5p	CLIP-seq
MIRT1496142	hsa-miR-497	CLIP-seq
MIRT2663444	hsa-miR-509-3-5p	CLIP-seq
MIRT2663445	hsa-miR-509-5p	CLIP-seq
MIRT2663446	hsa-miR-510	CLIP-seq
MIRT2663447	hsa-miR-517b	CLIP-seq
MIRT2663448	hsa-miR-518a-5p	CLIP-seq
MIRT2663449	hsa-miR-522	CLIP-seq
MIRT2663450	hsa-miR-527	CLIP-seq
MIRT2663451	hsa-miR-539	CLIP-seq
MIRT2663452	hsa-miR-548ag	CLIP-seq
MIRT2663453	hsa-miR-548ai	CLIP-seq
MIRT1496145	hsa-miR-582-3p	CLIP-seq
MIRT2663454	hsa-miR-583	CLIP-seq
MIRT1496148	hsa-miR-612	CLIP-seq
MIRT2663455	hsa-miR-631	CLIP-seq
MIRT2663456	hsa-miR-7	CLIP-seq
MIRT1496152	hsa-miR-761	CLIP-seq
MIRT2663457	hsa-miR-767-3p	CLIP-seq
MIRT2663458	hsa-miR-890	CLIP-seq
MIRT1496153	hsa-miR-922	CLIP-seq
MIRT2663459	hsa-miR-942	CLIP-seq
MIRT2663408	hsa-miR-1245b-3p	CLIP-seq
MIRT2663409	hsa-miR-1266	CLIP-seq
MIRT2663410	hsa-miR-1281	CLIP-seq
MIRT1496096	hsa-miR-1285	CLIP-seq
MIRT1496098	hsa-miR-142-3p	CLIP-seq
MIRT1496099	hsa-miR-15a	CLIP-seq
MIRT1496100	hsa-miR-15b	CLIP-seq
MIRT1496101	hsa-miR-16	CLIP-seq
MIRT1496103	hsa-miR-1915	CLIP-seq
MIRT1496104	hsa-miR-195	CLIP-seq
MIRT2663411	hsa-miR-197	CLIP-seq
MIRT2663412	hsa-miR-1973	CLIP-seq
MIRT1496106	hsa-miR-214	CLIP-seq
MIRT2663414	hsa-miR-2467-3p	CLIP-seq
MIRT2663416	hsa-miR-28-3p	CLIP-seq
MIRT1496107	hsa-miR-2861	CLIP-seq
MIRT2663417	hsa-miR-3148	CLIP-seq
MIRT1496110	hsa-miR-3151	CLIP-seq
MIRT1496111	hsa-miR-3152-5p	CLIP-seq
MIRT2663418	hsa-miR-3158-5p	CLIP-seq
MIRT1496112	hsa-miR-3187-5p	CLIP-seq
MIRT2663421	hsa-miR-3605-3p	CLIP-seq
MIRT1496115	hsa-miR-3619-5p	CLIP-seq
MIRT2663423	hsa-miR-3655	CLIP-seq
MIRT2663424	hsa-miR-3661	CLIP-seq
MIRT1496116	hsa-miR-3665	CLIP-seq
MIRT2663425	hsa-miR-3677-5p	CLIP-seq
MIRT2663426	hsa-miR-3678-3p	CLIP-seq
MIRT2663427	hsa-miR-3682-5p	CLIP-seq
MIRT1496117	hsa-miR-3919	CLIP-seq
MIRT1496118	hsa-miR-3934	CLIP-seq
MIRT1496119	hsa-miR-3943	CLIP-seq
MIRT1496120	hsa-miR-3945	CLIP-seq
MIRT2663428	hsa-miR-3978	CLIP-seq
MIRT1496121	hsa-miR-424	CLIP-seq
MIRT1496122	hsa-miR-4253	CLIP-seq
MIRT2663429	hsa-miR-4271	CLIP-seq
MIRT1496124	hsa-miR-4291	CLIP-seq
MIRT1496125	hsa-miR-4297	CLIP-seq
MIRT2149359	hsa-miR-4328	CLIP-seq
MIRT2663432	hsa-miR-4432	CLIP-seq
MIRT1496126	hsa-miR-4436b-3p	CLIP-seq
MIRT1496127	hsa-miR-4447	CLIP-seq
MIRT1496128	hsa-miR-4456	CLIP-seq
MIRT1496129	hsa-miR-4472	CLIP-seq
MIRT1496130	hsa-miR-4505	CLIP-seq
MIRT2663436	hsa-miR-4518	CLIP-seq
MIRT2663437	hsa-miR-4530	CLIP-seq
MIRT1496133	hsa-miR-4685-5p	CLIP-seq
MIRT2663438	hsa-miR-4698	CLIP-seq
MIRT2663440	hsa-miR-4725-3p	CLIP-seq
MIRT1496135	hsa-miR-4727-3p	CLIP-seq
MIRT2663441	hsa-miR-4733-3p	CLIP-seq
MIRT1496136	hsa-miR-4736	CLIP-seq
MIRT2663442	hsa-miR-4747-5p	CLIP-seq
MIRT1496137	hsa-miR-4774-3p	CLIP-seq
MIRT1496140	hsa-miR-486-3p	CLIP-seq
MIRT2663443	hsa-miR-486-5p	CLIP-seq
MIRT1496141	hsa-miR-491-5p	CLIP-seq
MIRT1496142	hsa-miR-497	CLIP-seq
MIRT2663446	hsa-miR-510	CLIP-seq
MIRT2663447	hsa-miR-517b	CLIP-seq
MIRT2663449	hsa-miR-522	CLIP-seq
MIRT2663451	hsa-miR-539	CLIP-seq
MIRT1496143	hsa-miR-541	CLIP-seq
MIRT2663452	hsa-miR-548ag	CLIP-seq
MIRT2663453	hsa-miR-548ai	CLIP-seq
MIRT1496145	hsa-miR-582-3p	CLIP-seq
MIRT1496148	hsa-miR-612	CLIP-seq
MIRT2663455	hsa-miR-631	CLIP-seq
MIRT1496151	hsa-miR-654-5p	CLIP-seq
MIRT1496152	hsa-miR-761	CLIP-seq
MIRT2663457	hsa-miR-767-3p	CLIP-seq
MIRT2663458	hsa-miR-890	CLIP-seq
MIRT1496153	hsa-miR-922	CLIP-seq
MIRT2663459	hsa-miR-942	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
BRCA1	Unknown	12647291
CREB1	Unknown	21507255
HIF1A	Activation	19934262
SIRT1	Repression	21149730
SP1	Unknown	19934262;21507255
TP53	Unknown	12771027;12967652;15927209;16357511;22336944
TP63	Unknown	17984111

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000109	Component	Nucleotide-excision repair complex	IDA	11259578
GO:0000111	Component	Nucleotide-excision repair factor 2 complex	IBA
GO:0000404	Function	Heteroduplex DNA loop binding	TAS	19941824
GO:0000405	Function	Bubble DNA binding	TAS	19941824
GO:0000720	Process	Pyrimidine dimer repair by nucleotide-excision repair	IEA
GO:0000785	Component	Chromatin	ISS	33937266
GO:0003677	Function	DNA binding	IEA
GO:0003684	Function	Damaged DNA binding	IBA
GO:0003684	Function	Damaged DNA binding	IDA	12509299
GO:0003684	Function	Damaged DNA binding	IEA
GO:0003697	Function	Single-stranded DNA binding	IBA
GO:0003697	Function	Single-stranded DNA binding	IDA	12509299
GO:0003697	Function	Single-stranded DNA binding	TAS	8168482
GO:0003713	Function	Transcription coactivator activity	IDA	29973595, 31527837
GO:0005515	Function	Protein binding	IPI	10488153, 10734143, 17693435, 18024891, 21962512, 22039351, 26278177, 26638075, 28514442, 29973595, 31527837, 33961781, 34591612, 34591642, 35271311
GO:0005634	Component	Nucleus	IDA	18682493
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	18682493
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	TAS	1522891
GO:0006289	Process	Nucleotide-excision repair	IBA
GO:0006289	Process	Nucleotide-excision repair	IDA	8168482, 9734359, 11259578, 19941824
GO:0006289	Process	Nucleotide-excision repair	IEA
GO:0006289	Process	Nucleotide-excision repair	IEA
GO:0006289	Process	Nucleotide-excision repair	ISS	33937266
GO:0006289	Process	Nucleotide-excision repair	TAS	10873465
GO:0006298	Process	Mismatch repair	IBA
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007346	Process	Regulation of mitotic cell cycle	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0010224	Process	Response to UV-B	IEA
GO:0010996	Process	Response to auditory stimulus	IEA
GO:0031573	Process	Mitotic intra-S DNA damage checkpoint signaling	IEA
GO:0044877	Function	Protein-containing complex binding	IDA	11259578
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	29973595, 31527837
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IEA
GO:0070914	Process	UV-damage excision repair	IDA	8077226
GO:0070914	Process	UV-damage excision repair	IEA
GO:0071942	Component	XPC complex	IBA
GO:0071942	Component	XPC complex	IDA	11279143, 31527837
GO:0090734	Component	Site of DNA damage	IEA
GO:0140612	Function	DNA damage sensor activity	IDA	10873465, 19941824
GO:0140612	Function	DNA damage sensor activity	ISS	33937266
GO:1901987	Process	Regulation of cell cycle phase transition	IEA
GO:1901990	Process	Regulation of mitotic cell cycle phase transition	IMP	17088560

Other IDs

• MIM: 613208
• HGNC: 12816
• e!Ensembl: ENSG00000154767

Protein

• UniProt ID: Q01831
• Protein name: DNA repair protein complementing XP-C cells (Xeroderma pigmentosum group C-complementing protein) (p125)
• Protein function: Involved in global genome nucleotide excision repair (GG-NER) by acting as damage sensing and DNA-binding factor component of the XPC complex (PubMed:10734143, PubMed:10873465, PubMed:12509299, PubMed:12547395, PubMed:19609301, PubMed:19941824,
• PDB: 2A4J, 2GGM, 2OBH, 2RVB, 8EBS, 8EBT, 8EBU, 8EBV, 8EBW, 8EBX, 8EBY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03835	Rad4	494 → 627	Rad4 transglutaminase-like domain	Domain
  PF10403	BHD_1	631 → 681	Rad4 beta-hairpin domain 1	Domain
  PF10404	BHD_2	685 → 744	Rad4 beta-hairpin domain 2	Domain
  PF10405	BHD_3	751 → 824	Rad4 beta-hairpin domain 3	Domain

• Sequence:

  MARKRAAGGEPRGRELRSQKSKAKSKARREEEEEDAFEDEKPPKKSLLSKVSQGKRKRGC
  SHPGGSADGPAKKKVAKVTVKSENLKVIKDEALSDGDDLRDFPSDLKKAHHLKRGATMNE
  DSNEEEEESENDWEEVEELSEPVLGDVRESTAFSRSLLPVKPVEIEIETPEQAKTRERSE
  KIKLEFETYLRRAMKRFNKGVHEDTHKVHLLCLLANGFYRNNICSQPDLHAIGLSIIPAR
  FTRVLPRDVDTYYLSNLVKWFIGTFTVNAELSASEQDNLQTTLERRFAIYSARDDEELVH
  IFLLILRALQLLTRLVLSLQPIPLKSATAKGKKPSKERLTADPGGSSETSSQVLENHTKP
  KTSKGTKQEETFAKGTCRPSAKGKRNKGGRKKRSKPSSSEEDEGPGDKQEKATQRRPHGR
  ERRVASRVSYKEESGSDEAGSGSDFELSSGEASDPSDEDSEPGPPKQRKAPAPQRTKAGS
  KSASRTHRGSHRKDPSLPAASSSSSSSKRGKKMCSDGEKAEKRSIAGIDQWLEVFCEQEE
  KWVCVDCVHGVVGQPLTCYKYATKPMTYVVGIDSDGWVRDVTQRYDPVWMTVTRKCRVDA
  EWWAETLRPYQSPFMDREKKEDLEFQAKHMDQPLPTAIGLYKNHPLYALKRHLLKYEAIY
  PETAAILGYCRGEAVYSRDCVHTLHSRDTWLKKARVVRLGEVPYKMVKGFSNRARKARLA
  EPQLREENDLGLFGYWQTEEYQPPVAVDGKVPRNEFGNVYLFLPSMMPIGCVQLNLPNLH
  RVARKLDIDCVQAITGFDFHGGYSHPVTDGYIVCEEFKDVLLTAWENEQAVIERKEKEKK
  EKRALGNWKLLAKGLLIRERLKRRYGPKSEAAAPHTDAGGGLSSDEEEGTSSQAEAARIL
  AASWPQNREDEEKQKLKGGPKKTKREKKAAASHLFPFEQL

• Sequence length: 940

Pathways

KEGG:

Nucleotide excision repair

Reactome:

SUMOylation of DNA damage response and repair proteins
DNA Damage Recognition in GG-NER
Formation of Incision Complex in GG-NER

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Familial prostate cancer	Pathogenic	rs1450238352	RCV005628812	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Likely pathogenic	rs2125024504	RCV005922449	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian cancer	Likely pathogenic	rs762099392	RCV003154752	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sarcoma	Likely pathogenic	rs764480429	RCV005901510	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Xeroderma pigmentosum	Likely pathogenic; Pathogenic	rs760324503, rs752088918, rs121965088, rs754532049, rs754673606, rs201940931, rs1450238352, rs749681216, rs1399465960, rs757958943, rs755825264, rs374117852, rs1330667099, rs754775337, rs373519125, rs764480429, rs745679643, rs1695999145, rs1696002966	RCV004800999 RCV000589161 RCV001260295 RCV000781925 RCV000590804 RCV001174681 RCV001194078 RCV003332070 RCV004765852 RCV001175486 RCV000587243 RCV000589424 RCV001194079 RCV001280679 RCV003403557 RCV003235341 RCV001201195 RCV001192698 RCV001194077	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xeroderma pigmentosum group A	Likely pathogenic	rs869025275	RCV000207299	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Xeroderma pigmentosum, group C	Likely pathogenic; Pathogenic	rs1696314718, rs1317050260, rs776361955, rs765641981, rs2125025992, rs746319045, rs781023624, rs1253035928, rs1695913328, rs794729654, rs794729655, rs752088918, rs121965088, rs794729656, rs794729657, rs754532049, rs2125008340, rs1273295928, rs786205206, rs754673606, rs767569346, rs201940931, rs1559374923, rs1246211702, rs2470227119, rs759561565, rs3731139, rs1450238352, rs1696343406, rs2470304057, rs749681216, rs765684436, rs2470219549, rs2470278321, rs1696028787, rs2470261046, rs2470295662, rs2470227355, rs2470259784, rs2470257940, rs2470225927, rs1399465960, rs753506183, rs2470222942, rs2470256704, rs1574954584, rs924205965, rs2470256902, rs2470281037, rs776865296, rs2470251738, rs2470222783, rs1553605894, rs2470264146, rs1032646332, rs778940656, rs2470278370, rs2470256823, rs2470237973, rs2470227583, rs2470261796, rs2470222842, rs1553604251, rs2470261172, rs2470258893, rs2470238559, rs1696675107, rs757958943, rs755825264, rs374117852, rs1553604559, rs1553605497, rs1553605813, rs975121308, rs1553606979, rs1330667099, rs1553604620, rs1553605023, rs1553605973, rs1553604549, rs1553604552, rs1208223013, rs1281090187, rs1553607773, rs770308917, rs1423398589, rs1553604570, rs1309116467, rs1553605655, rs1553605761, rs754197041, rs754775337, rs1553605871, rs373519125, rs764321665, rs1326646197, rs1553607144, rs764480429, rs1402162002, rs752030576, rs1553607419, rs746250060, rs1553605795, rs1553607744, rs1553608616, rs1553605805, rs867461743, rs745679643, rs1553608637, rs763678756, rs1228981894, rs1260189637, rs1574950526, rs1574972784, rs1559369237, rs1695569595, rs1696466639, rs1696563531, rs1448891857, rs778987248, rs1696679400	RCV004570800 RCV005038205 RCV005023141 RCV003463006 RCV003463011 RCV002280586 RCV003464300 RCV004571666 RCV005032027 RCV000000280 RCV000000281 RCV000000282 RCV000000283 RCV000000284 RCV000000285 RCV000000286 RCV005055189 RCV003465935 RCV000170429 RCV000170434 RCV000170432 RCV000170430 RCV003465807 RCV005631056 RCV005636688 RCV003225860 RCV001172308 RCV000671910 RCV001172307 RCV003330361 RCV003459839 RCV003464893 RCV003466559 RCV003464894 RCV003466560 RCV003466561 RCV003466562 RCV003466563 RCV003466564 RCV003464895 RCV003466565 RCV003464896 RCV003466566 RCV003466567 RCV003466568 RCV003466569 RCV003466570 RCV003464897 RCV003464898 RCV003464899 RCV003464900 RCV003464901 RCV004574086 RCV004574096 RCV005636999 RCV004574214 RCV003988964 RCV004576171 RCV004573879 RCV004573880 RCV004573881 RCV004573882 RCV004573883 RCV004573884 RCV004573885 RCV004573886 RCV004573887 RCV004573888 RCV000505517 RCV002497239 RCV000666668 RCV000674367 RCV000671307 RCV000674478 RCV000671425 RCV000674941 RCV000665434 RCV000667696 RCV000673420 RCV000670246 RCV000664737 RCV000666883 RCV000671731 RCV000673386 RCV000665464 RCV000669847 RCV000673240 RCV000668920 RCV000674481 RCV000673385 RCV000674806 RCV000671210 RCV000667716 RCV000666559 RCV000664823 RCV000670127 RCV000672294 RCV000673738 RCV000669213 RCV000674407 RCV000673154 RCV000670977 RCV000669908 RCV000664538 RCV000672875 RCV000666590 RCV000670023 RCV000672979 RCV000671134 RCV000666370 RCV000670600 RCV000664637 RCV000666399 RCV000671101 RCV000668532 RCV000666236 RCV000680142 RCV000790405 RCV000991414 RCV001809958 RCV001172310 RCV001172306 RCV001172309 RCV001828707 RCV005029763 RCV003462805 RCV003462792	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
XPC-related disorder	Pathogenic	rs754532049, rs754673606	RCV003952331 RCV003954993	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMINO ACID METABOLISM, INBORN ERRORS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XERODERMA PIGMENTOSUM GROUP C	—	ClinGen, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XERODERMA PIGMENTOSUM, GROUP A	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Actinic keratosis	Actinic keratosis	BEFREE	8994835		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	16965652, 17498315, 18645534		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	28878296		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	15878910		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	16141330, 21327329		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CTD_human_DG	21327329, 27777383		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	16492920		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	16492920		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	16492920		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	26263968	Associate	★☆☆☆☆ Found in Text Mining only
Amino Acid Metabolism, Inborn Errors	Disorder of amino acid metabolism	CTD_human_DG	9804340		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amino Acid Metabolism, Inherited Disorders	Inherited Errors of Amino Acid Metabolism	CTD_human_DG	9804340		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CTD_human_DG	9804340		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	9804340	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Azoospermia	Azoospermia	BEFREE	18067564		★☆☆☆☆ Found in Text Mining only
Basal cell carcinoma	Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	14688016, 16537713, 17052994, 17164382, 17438703, 17510383, 19924443, 20488473, 21047201, 21273643, 21426550, 21507255, 21689419, 22505326, 22927776, 23246108, 23269608, 23918308, 24382701, 25535740, 25927440		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	LHGDN	17052994, 17374967, 17438703		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16002061, 18053706, 18196582, 18701435, 21751198, 22519360, 23776089, 27571987, 27768589, 31710080		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18053706, 18701435, 21622940, 21700777, 22519360, 23776089, 23852586, 25501155, 27571987, 27768589	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23852586	Inhibit	★☆☆☆☆ Found in Text Mining only
Bronchitis	Bronchitis	BEFREE	26655675		★☆☆☆☆ Found in Text Mining only
Cancer of Urinary Tract	Urinary Tract Cancer	BEFREE	23892089		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	12505994, 17508409, 24382701, 25871391, 26604426, 33994366	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	23622385		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25337275, 26967386	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26967386	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	22261839	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	14688016, 16537713, 17052994, 17164382, 17510383, 19924443, 20488473, 20887739, 21047201, 21273643, 21426550, 21507255, 21689419, 22505326, 22927776, 23246108, 23269608, 23819639, 23918308, 24382701, 25535740, 25927440, 27246180		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	19444904, 26001739		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	15533908, 15729698, 15837542, 15849729, 17325666, 17531525, 17705814, 17913280, 18285822, 18709642, 21739480, 23381646, 23673479, 24375193, 25300687, 28540485, 31195348, 31584889		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	23621265	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	17498315, 25374063	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	17705814, 23335232, 27246533, 28878296	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	25209577, 25600527		★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	21751198, 23621265		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	27248495		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	27248495	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central nervous system neoplasm	Pubtator	35246173	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholecystolithiasis	Cholecystolithiasis	BEFREE	21113018		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	BEFREE	21113018		★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne Syndrome	BEFREE	16315091, 1756475, 9415314		★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome, Type I	Cockayne Syndrome	BEFREE	12509261		★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome, Type II	Cockayne Syndrome	BEFREE	25435140		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	24607854		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	17119055, 17363013, 20649433, 21104992, 21559836, 22213216, 23803084, 24385304, 24947936, 25355595, 25391773, 26214629, 29568775, 29793654, 30109214		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	17363013		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23801864, 23803084, 24939416, 25355595, 25391773, 29568775, 31988591, 36356413	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25391773	Inhibit	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31988591	Stimulate	★☆☆☆☆ Found in Text Mining only
Congenital ankyloblepharon	Congenital Ankyloblepharon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	14729591, 15470755, 17685459, 19027756, 20106949, 21858514		★☆☆☆☆ Found in Text Mining only
Conjunctival telangiectasis	Conjunctival Telangiectasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conjunctivitis	Conjunctivitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	29893334	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	15731165, 20616346, 23568549, 24277375, 26427666		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic neutropenia	Pubtator	38013655	Associate	★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	27248495		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	27248495		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectropion	Ectropion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	16284373, 21750170		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	21750170	Associate	★☆☆☆☆ Found in Text Mining only
Entropion	Entropion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	23621265		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	19270000		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	19270000		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	19270000	Inhibit	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	17653764, 26831662	Associate	★☆☆☆☆ Found in Text Mining only
Eye Neoplasms	Eye Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	18716735		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	18716735		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	31428994		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	21113018		★☆☆☆☆ Found in Text Mining only
Gastritis Atrophic	Gastritis	Pubtator	26760766	Associate	★☆☆☆☆ Found in Text Mining only
Gastritis, Atrophic	Gastritis	BEFREE	26760766		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	27460091	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	LHGDN	18089819		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	24252196	Associate	★☆☆☆☆ Found in Text Mining only
Hallopeau-Siemens Disease	DYSTROPHIC EPIDERMOLYSIS BULLOSA	BEFREE	30693469		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	15863269, 24338715		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	24338715, 24487794	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Disorders	Headache	Pubtator	26918827	Associate	★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	BEFREE	19797196		★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	28472728	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	35246173	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Autonomic Neuropathies	Hereditary sensory and autonomic neuropathy	Pubtator	25340731	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	19280628		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	19280628, 21374732, 22902050	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	23830927		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	27248495		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis	Ichthyosis	Pubtator	17355181	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Polyposis	Intestinal polyposis	Pubtator	36356413	Associate	★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Laryngitis	Laryngitis	Pubtator	22126485	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	31428994	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	25311495		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	20141440, 26779634	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	22968471, 26779634		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	21047201, 25340731, 28791697		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	15922480, 20658464, 21372597, 26967386		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	CTD_human_DG	24084170		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	LHGDN	15700316, 16086280, 17498315, 17508409		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	BEFREE	16141330		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	17325666, 24084170		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	17498315, 17705814, 28540485, 37006075	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	17508409, 25871391	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	27492607	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	15863269, 24338715		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16002061, 18053706, 18196582, 18701435, 21751198, 22519360, 23776089, 27571987, 27768589, 31710080		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	16284373, 21750170		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	19270000		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	21113018		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	19444904		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	CTD_human_DG	24084170		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	15533908, 15729698, 15837542, 15849729, 17325666, 17531525, 17705814, 17913280, 18285822, 18709642, 21739480, 23381646, 23673479, 24375193, 25300687, 28540485, 31195348, 31584889		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	17325666, 24084170		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	21751198		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	26617894, 30344718		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	17196815, 22382185, 22682619, 24093803, 24289586, 27974699, 30552616		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	11121128, 11511294, 14662655, 15863269, 16081512, 19953607, 20616346, 21123941, 25600527, 25759212, 27075100, 27311994, 8994835		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	20817763, 24886180, 26760766		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	14688016, 16537713, 17052994, 17164382, 17510383, 19924443, 20488473, 20887739, 21047201, 21273643, 21426550, 21507255, 21689419, 22505326, 22927776, 23246108, 23269608, 23819639, 23918308, 24382701, 25535740, 25927440, 27246180		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12177305, 14662655, 15107491, 15922480, 16081512, 16141330, 17164382, 1756475, 18035379, 18285822, 18771913, 20106949, 20488473, 21123941, 23400628, 23892089, 24366067, 24375193, 24770583, 31710080		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	24607854		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	15494739, 15731165, 16258177, 21733660, 23568549, 23622385, 23650282, 24277375, 26427666, 27487145, 29373959		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Melanoma	Pubtator	23407396, 23659246, 27487145, 29373959, 33077847	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	CGI_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma Cutaneous Malignant	Melanoma	Pubtator	26427666	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	28687356	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial complex I deficiency	Mitochondrial complex deficiency	Pubtator	28273955	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	33994366	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	28472728	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	17882560, 28881764		★☆☆☆☆ Found in Text Mining only
Nausea	Nausea	Pubtator	26918827	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21327329, 21507255, 25927440, 7675084		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	8994835		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	24252196	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	21047201, 25340731		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	25340731, 38013655	Associate	★☆☆☆☆ Found in Text Mining only
Nijmegen Breakage Syndrome	Nijmegen Breakage Syndrome	BEFREE	17476281		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	20571354, 24569633, 28878296, 29953987, 30555679		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	CTD_human_DG	27777383		★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	18067564		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	21751198		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	21751198, 29669843	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	29669843	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	26617894, 30344718		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Poikiloderma	Poikiloderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Poikiloderma of Kindler	Poikiloderma Of Kindler	BEFREE	30693469		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	17196815, 22382185, 22682619, 24093803, 24289586, 27974699, 30552616		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	22382185	Stimulate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	26745975, 27974699, 30777372, 32300177, 32488882	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	27974699	Inhibit	★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	29568775		★☆☆☆☆ Found in Text Mining only
Rhinitis Allergic	Rhinitis	Pubtator	35693108	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	30769138		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin carcinoma	Skin Carcinoma	BEFREE	15863269		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	25759212	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	25759212, 27685703		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	11121128, 11511294, 19953607, 20463673, 23244095, 24218596, 25759212, 27543334, 32843428, 8168482	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	20947490		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	24252196, 26884178	Stimulate	★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Autosomal Recessive 2	Spinocerebellar ataxia	Pubtator	17984111	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	15863269, 20616346, 22126485, 27499003, 28878296		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	17653764		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CTD_human_DG	27777383		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	17653764, 22941172, 26831662		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	22126485, 26505394, 26918827, 29893334, 33714009, 37798436	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	29953987		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of oropharynx	Oropharyngeal carcinoma	BEFREE	23335232		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	11309287, 17684138, 26918827, 29893334		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	20817763, 24886180, 26760766		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26760766	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	35246173	Associate	★☆☆☆☆ Found in Text Mining only
Trichothiodystrophy Syndromes	Trichothiodystrophy	BEFREE	12948486, 14644317, 18470933		★☆☆☆☆ Found in Text Mining only
Trichothiodystrophy Syndromes	Trichothiodystrophy	Pubtator	18470933	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	25023197		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Diseases	Urinary bladder diseases	Pubtator	21426550	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	15886698, 18630471, 19924443, 21273643, 21426550, 21689419, 22927776, 24382701, 25535740, 25927440, 34068981	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	21507255	Inhibit	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	31428994		★☆☆☆☆ Found in Text Mining only
Xeroderma	Xeroderma	BEFREE	15863269, 17355181		★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	10766188, 12177305, 14644317, 15533908, 16081512, 16315091, 17079196, 17476281, 18037231, 18202716, 18809580, 18955168, 20054342, 21149730, 21482201, 22211393, 23143338, 24218596, 24366067, 24770583, 26278556, 27413738, 28473198, 28760956, 28846868, 29178624, 29474070, 29569758, 29893334, 30808711, 7851894, 8088800		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xeroderma Pigmentosum	Xeroderma Pigmentosum	CLINVAR_DG	11121128, 16081512, 17079196, 21482201, 24218596, 26884178, 27413738		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xeroderma Pigmentosum	Xeroderma pigmentosum	Pubtator	11121128, 12177305, 15654957, 17498315, 18809580, 18955168, 19953607, 20054342, 20463673, 22068429, 24218596, 24366067, 24770583, 26874523, 27413738, 28273955, 28615033, 28719581, 30516811, 32843428, 34831476, 35522049, 35902966	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xeroderma Pigmentosum	Xeroderma Pigmentosum	LHGDN	16081512, 16794584, 17653764, 18809580, 18955168		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xeroderma pigmentosum	Xeroderma Pigmentosum	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xeroderma Pigmentosum	Xeroderma Pigmentosum	CTD_human_DG	24084170		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xeroderma Pigmentosum	Xeroderma pigmentosum	Pubtator	24252196	Inhibit	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xeroderma Pigmentosum Complementation Group C	Xeroderma pigmentosum	Pubtator	11511294	Inhibit	★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum Complementation Group C	Xeroderma pigmentosum	Pubtator	12505994, 18809580, 20054342, 24236034, 25759212, 26681190, 28273955, 32843428, 37109656	Associate	★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum Complementation Group F	Xeroderma pigmentosum	Pubtator	26681190	Associate	★☆☆☆☆ Found in Text Mining only
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C	Xeroderma Pigmentosum	CLINGEN_DG	10029060, 11121128, 11511294, 19478817, 24105368, 7675084, 8298653		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C	Xeroderma Pigmentosum	UNIPROT_DG	10447254, 10766188, 17355181, 17682058, 19609301, 29973595, 8298653		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C	Xeroderma Pigmentosum	CLINVAR_DG	10766188, 11121128, 11511294, 15107491, 16081512, 16990803, 17079196, 18955168, 19119101, 19478817, 19609301, 20054342, 20463673, 21482201, 23173980, 23278166, 23984341, 24218596, 25256075, 25525159, 25566891, 26278556, 26884178, 27387384, 27607234		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C	Xeroderma Pigmentosum	BEFREE	11023539, 14688016, 15744458, 15878910, 16081512, 1649389, 17052994, 17882560, 18053706, 18771913, 18809580, 18987743, 19924443, 20616346, 20658464, 21104992, 21482201, 21647780, 2308842, 2342504, 23562908, 23604128, 23845142, 23892089, 24093803, 24366067, 2547510, 25927440, 26213845, 26745975, 28746345, 29228550, 29283431, 29893334, 30181600, 30628719, 30693469, 31710080, 7512688, 7517010, 7675084, 7767978, 8088800, 8127661, 8298653, 8790942, 9447231		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C	Xeroderma Pigmentosum	GENOMICS_ENGLAND_DG	11511294, 27413738, 30565713		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C	Xeroderma Pigmentosum	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xeroderma pigmentosum, group A	Xeroderma Pigmentosum	BEFREE	17653764, 24366067		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xeroderma pigmentosum, group A	Xeroderma Pigmentosum	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xeroderma pigmentosum, group F	Xeroderma Pigmentosum	BEFREE	30516811		★☆☆☆☆ Found in Text Mining only