XPA (XPA, DNA damage recognition and repair factor)

Gene

• Entrez ID: 7507
• Gene name: XPA, DNA damage recognition and repair factor
• Gene symbol: XPA
• Synonyms (NCBI Gene): XP1, XPAC
• Chromosome: 9
• Chromosome location: 9q22.33
• Summary: This gene encodes a zinc finger protein plays a central role in nucleotide excision repair (NER), a specialized type of DNA repair. NER is responsible for repair of UV radiation-induced photoproducts and DNA adducts induced by chemical carcinogens and che

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894131	C>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs104894132	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs104894133	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs104894134	A>G,T	Pathogenic, likely-benign	Non coding transcript variant, synonymous variant, intron variant, stop gained, coding sequence variant
rs149226993	G>A	Likely-pathogenic, pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs746617574	C>G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs748286715	CA>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs750218942	C>G	Pathogenic	Intron variant, splice acceptor variant
rs752573039	->A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, splice donor variant
rs755803064	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, stop gained
rs759052378	->TT	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs761978351	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs764582394	->TTTC	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs769255883	C>A,G,T	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, stop gained, missense variant
rs778543124	AGTCTTACGGTACA>-	Pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, splice donor variant, frameshift variant, intron variant
rs779161471	C>-	Likely-pathogenic, pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, frameshift variant
rs781195170	CTCT>-,CT	Likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant
rs786205205	->TA	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant
rs886039226	ATAA>TTTCTTATG	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, stop gained
rs1019535182	A>G	Likely-pathogenic	Splice donor variant
rs1057519018	CT>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1200172747	TAAGA>-	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, frameshift variant
rs1240801740	CA>-	Likely-pathogenic	Inframe indel, intron variant, coding sequence variant, stop gained, non coding transcript variant
rs1253496792	A>G	Likely-pathogenic	Initiator codon variant, missense variant, non coding transcript variant, 5 prime UTR variant
rs1326841833	->T	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant, non coding transcript variant
rs1554699296	->A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1554699334	A>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1554701103	->T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1554701129	->G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1554701139	CT>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1554701144	AA>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1554701152	T>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1554701478	A>T	Likely-pathogenic	Splice donor variant, intron variant
rs1554701481	C>T	Likely-pathogenic	Splice donor variant, intron variant
rs1554701488	T>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs1554701520	->T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs1554701532	T>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained, intron variant
rs1554701540	CT>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs1554701563	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs1554701931	C>T	Likely-pathogenic	Splice donor variant, intron variant
rs1554701945	->TAAATTCTTTCCCA	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs1554701985	AAGGAAAATGAACTCTAGTTTCCT>GAC	Likely-pathogenic	Intron variant
rs1554702597	TTACCT>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, splice donor variant, intron variant
rs1554702608	C>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1554702629	G>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1554703119	C>A,T	Likely-pathogenic	5 prime UTR variant, splice donor variant
rs1554703183	AAAGCCCCGTCGGCCGCCGCCATCTCTGGC>-	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, inframe deletion, initiator codon variant
rs1564045331	ATTCTT>-	Likely-pathogenic	Inframe indel, non coding transcript variant, coding sequence variant, intron variant
rs1587744218	C>-	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1587755557	A>C	Pathogenic	Splice donor variant, 5 prime UTR variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004137	hsa-miR-192-5p	Microarray	16822819
MIRT003917	hsa-miR-210-3p	Western blot	19141645
MIRT003918	hsa-miR-373-3p	Western blot	19141645
MIRT1496078	hsa-miR-1296	CLIP-seq
MIRT1496079	hsa-miR-2909	CLIP-seq
MIRT1496080	hsa-miR-3119	CLIP-seq
MIRT1496081	hsa-miR-3158-3p	CLIP-seq
MIRT1496082	hsa-miR-3163	CLIP-seq
MIRT1496083	hsa-miR-3180-5p	CLIP-seq
MIRT1496084	hsa-miR-4420	CLIP-seq
MIRT1496085	hsa-miR-4446-3p	CLIP-seq
MIRT1496086	hsa-miR-4446-5p	CLIP-seq
MIRT1496087	hsa-miR-4494	CLIP-seq
MIRT1496088	hsa-miR-4539	CLIP-seq
MIRT1496089	hsa-miR-4724-5p	CLIP-seq
MIRT1496090	hsa-miR-4755-5p	CLIP-seq
MIRT1496091	hsa-miR-499a-5p	CLIP-seq
MIRT1496092	hsa-miR-544	CLIP-seq
MIRT1496093	hsa-miR-642a	CLIP-seq
MIRT1496094	hsa-miR-653	CLIP-seq
MIRT2663398	hsa-miR-300	CLIP-seq
MIRT2663399	hsa-miR-3140-3p	CLIP-seq
MIRT2663400	hsa-miR-381	CLIP-seq
MIRT2663401	hsa-miR-4503	CLIP-seq
MIRT2663402	hsa-miR-4666-3p	CLIP-seq
MIRT1496089	hsa-miR-4724-5p	CLIP-seq
MIRT2663403	hsa-miR-4738-3p	CLIP-seq
MIRT2663404	hsa-miR-4789-5p	CLIP-seq
MIRT2663405	hsa-miR-4803	CLIP-seq
MIRT2663406	hsa-miR-556-3p	CLIP-seq
MIRT2663407	hsa-miR-944	CLIP-seq
MIRT2695369	hsa-miR-1298	CLIP-seq
MIRT2663398	hsa-miR-300	CLIP-seq
MIRT2663399	hsa-miR-3140-3p	CLIP-seq
MIRT2663400	hsa-miR-381	CLIP-seq
MIRT2663401	hsa-miR-4503	CLIP-seq
MIRT2663402	hsa-miR-4666-3p	CLIP-seq
MIRT1496089	hsa-miR-4724-5p	CLIP-seq
MIRT2663403	hsa-miR-4738-3p	CLIP-seq
MIRT2663404	hsa-miR-4789-5p	CLIP-seq
MIRT2663405	hsa-miR-4803	CLIP-seq
MIRT2663406	hsa-miR-556-3p	CLIP-seq
MIRT2695370	hsa-miR-624	CLIP-seq
MIRT2663407	hsa-miR-944	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
DDB2	Unknown	24953096
ERCC2	Unknown	24953096
HMGA1	Repression	17616660

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000110	Component	Nucleotide-excision repair factor 1 complex	IBA
GO:0000715	Process	Nucleotide-excision repair, DNA damage recognition	IBA
GO:0003677	Function	DNA binding	IEA
GO:0003684	Function	Damaged DNA binding	IBA
GO:0003684	Function	Damaged DNA binding	IDA	7700386
GO:0003684	Function	Damaged DNA binding	IEA
GO:0003684	Function	Damaged DNA binding	TAS	10946233
GO:0005515	Function	Protein binding	IPI	7700386, 8197175, 8999876, 9013642, 10944529, 10982866, 11058119, 12527904, 16491090, 17948053, 20304803, 20670893, 25416956, 28514442, 32296183, 33961781
GO:0005634	Component	Nucleus	IDA	1601884
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005662	Component	DNA replication factor A complex	IDA	7700386
GO:0005829	Component	Cytosol	IDA
GO:0006281	Process	DNA repair	IDA	1601884
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	IMP	1601884
GO:0006284	Process	Base-excision repair	IBA
GO:0006289	Process	Nucleotide-excision repair	IEA
GO:0006289	Process	Nucleotide-excision repair	IEA
GO:0006289	Process	Nucleotide-excision repair	IMP	21148310
GO:0006974	Process	DNA damage response	IEA
GO:0006979	Process	Response to oxidative stress	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IEA
GO:0009411	Process	Response to UV	IEA
GO:0009636	Process	Response to toxic substance	IEA
GO:0009650	Process	UV protection	IDA	1601884
GO:0009650	Process	UV protection	IMP	1601884
GO:0010506	Process	Regulation of autophagy	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0019904	Function	Protein domain specific binding	IPI	17720715
GO:0034504	Process	Protein localization to nucleus	IMP	1601884
GO:0035264	Process	Multicellular organism growth	IEA
GO:0042803	Function	Protein homodimerization activity	IPI	8197175
GO:0046872	Function	Metal ion binding	IEA
GO:0060261	Process	Positive regulation of transcription initiation by RNA polymerase II	IEA
GO:0070914	Process	UV-damage excision repair	IBA
GO:1901255	Process	Nucleotide-excision repair involved in interstrand cross-link repair	IBA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 611153
• HGNC: 12814
• e!Ensembl: ENSG00000136936

Protein

• UniProt ID: P23025
• Protein name: DNA repair protein complementing XP-A cells (Xeroderma pigmentosum group A-complementing protein)
• Protein function: Involved in DNA nucleotide excision repair (NER). Initiates repair by binding to damaged sites with various affinities, depending on the photoproduct and the transcriptional state of the region. Required for UV-induced CHEK1 phosphorylation and
• PDB: 1D4U, 1XPA, 2JNW, 6J44, 6LAE, 6RO4, 7AD8, 8EBT, 8EBU, 8EBX, 8EBY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01286	XPA_N	102 → 133	XPA protein N-terminal	Domain
  PF05181	XPA_C	135 → 186	XPA protein C-terminus	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in various cell lines and in skin fibroblasts. {ECO:0000269|PubMed:1918083, ECO:0000269|PubMed:8543191}.
• Sequence:

  MAAADGALPEAAALEQPAELPASVRASIERKRQRALMLRQARLAARPYSATAAAATGGMA
  NVKAAPKIIDTGGGFILEEEEEEEQKIGKVVHQPGPVMEFDYVICEECGKEFMDSYLMNH
  FDLPTCDNCRDADDKHKLITKTEAKQEYLLKDCDLEKREPPLKFIVKKNPHHSQWGDMKL
  YLKLQIVKRSLEVWGSQEALEEAKEVRQENREKMKQKKFDKKVKELRRAVRSSVWKRETI
  VHQHEYGPEENLEDDMYRKTCTMCGHELTYEKM

• Sequence length: 273

Pathways

KEGG:

Platinum drug resistance
Nucleotide excision repair

Reactome:

Formation of Incision Complex in GG-NER
Dual Incision in GG-NER
Formation of TC-NER Pre-Incision Complex
Dual incision in TC-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
Thyroid cancer, nonmedullary, 1	Pathogenic	rs1587755557	RCV005887150	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Xeroderma pigmentosum	Pathogenic; Likely pathogenic	rs2131379218, rs104894131, rs1200172747, rs104894132, rs104894133, rs2131393093, rs2490184373, rs777372873, rs750218942, rs2490237534, rs1057519018, rs1554701103, rs1554701540, rs149226993, rs746617574, rs1451780491, rs769255883, rs1324310300, rs756967163	RCV004526164 RCV005055500 RCV000780797 RCV000781924 RCV001420782 RCV002266270 RCV002281808 RCV003111575 RCV001255518 RCV005063025 RCV002265751 RCV000781922 RCV002255500 RCV000781923 RCV001174635 RCV002256462 RCV001194216 RCV003403540 RCV001585956	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xeroderma pigmentosum group A	Likely pathogenic; Pathogenic	rs757098056, rs746824252, rs2131379218, rs2131396482, rs104894131, rs1200172747, rs104894132, rs104894133, rs104894134, rs1587755557, rs2490221098, rs777372873, rs1405271436, rs786205205, rs750218942, rs1828741490, rs1828818571, rs2490215392, rs2490227153, rs2490184698, rs1554701520, rs2490237534, rs1468099690, rs2490221202, rs2490237760, rs1489386089, rs2490237527, rs1554701931, rs1057519018, rs778543124, rs1564045331, rs759052378, rs1554699296, rs1554701103, rs764582394, rs1554701129, rs755803064, rs1554701152, rs1554701540, rs748286715, rs1019535182, rs761978351, rs149226993, rs1554701144, rs1554701478, rs1554701481, rs746617574, rs1554701488, rs1326841833, rs781195170, rs1240801740, rs1451780491, rs1554702597, rs1554702629, rs1554699334, rs1554701563, rs769255883, rs1554703119, rs1554703183, rs1253496792, rs752573039, rs1554701139, rs1554701532, rs1324310300, rs1554702608, rs756967163	RCV003462882 RCV005040424 RCV005050485 RCV003464313 RCV000001048 RCV000001049 RCV000001050 RCV000001051 RCV000001052 RCV000001053 RCV002289322 RCV002472010 RCV002472019 RCV000170428 RCV000246304 RCV001172311 RCV001172312 RCV003464890 RCV003464891 RCV003464892 RCV005047687 RCV004574099 RCV004573252 RCV004573874 RCV004573875 RCV004573876 RCV004573877 RCV004573878 RCV000415712 RCV000667095 RCV000754105 RCV003459478 RCV000667814 RCV000668902 RCV000674093 RCV000670038 RCV000674552 RCV000674742 RCV000670791 RCV000668826 RCV000674401 RCV000669338 RCV000666956 RCV000671796 RCV000668662 RCV000670923 RCV000665444 RCV000665796 RCV000673845 RCV000671391 RCV000670444 RCV000668799 RCV000670391 RCV000671795 RCV000670364 RCV000670758 RCV000673546 RCV000673551 RCV000674100 RCV000672997 RCV000672862 RCV000666994 RCV000674229 RCV000672325 RCV000669539 RCV000666137 RCV000671257 RCV000667207 RCV003467782	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
XPA-related disorder	Likely pathogenic; Pathogenic	rs746617574	RCV003403537	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARCINOMA, BASAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTESTINAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A	—	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	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	15598786		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	18645534		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	15598786		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	9864090		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	29871536		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alternating hemiplegia of childhood	Alternating hemiplegia of childhood	Pubtator	28398700	Associate	★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	27197874		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	27197874	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	24252196	Stimulate	★☆☆☆☆ Found in Text Mining only
Basal cell carcinoma	Carcinoma	LHGDN	16513681, 17687452		★☆☆☆☆ Found in Text Mining only
Basal cell carcinoma	Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	28222669, 9864090		★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	2538735		★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	BEFREE	28991657		★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18990233, 21751184, 24642895, 29953005		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18990233, 21751184, 24642895, 27768589, 33184404	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21751184	Stimulate	★☆☆☆☆ Found in Text Mining only
Cachexia	Cachexia	Pubtator	24252196	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	28222669	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	23622385		★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	30089811	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26967386	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	28222669		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	19444904		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	12376498, 12663511, 15333465, 15837542, 17531525, 17913280, 21195504, 21611749, 21866550, 24696258, 27460688		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	18711149	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	23335232, 25491297, 30089811	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	CTD_human_DG	17687452		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Basal Cell	Carcinoma	BEFREE	28510302, 30089811		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Basal Cell	Carcinoma	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	8973600		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	36893274	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	28991657		★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chorea	Chorea	Pubtator	38040034	Associate	★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	10699759		★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne Syndrome	BEFREE	10601636, 18927284		★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne syndrome	Pubtator	11710928	Associate	★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome, Type I	Cockayne Syndrome	BEFREE	12208738, 20215648		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	38040034	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	18567921	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	29675892		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	17363013, 28386271, 29664240, 29675892		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29568775, 29675892	Associate	★☆☆☆☆ 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	17685459, 28222669		★☆☆☆☆ 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
Convergence Insufficiency	Convergence Insufficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	9671271		★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	38040034	Associate	★☆☆☆☆ Found in Text Mining only
Ectropion	Ectropion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	16284373, 16806437		★☆☆☆☆ 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
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	19270000	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	17653764, 26831662	Associate	★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Eye Neoplasms	Eye Neoplasms	BEFREE	7675086		★☆☆☆☆ Found in Text Mining only
Eye Neoplasms	Eye Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial Atypical Mole Melanoma Syndrome	Atypical Mole Melanoma Syndrome	BEFREE	8027583		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	7829076		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	8504485		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	20506255		★☆☆☆☆ Found in Text Mining only
Gardner Syndrome	Gardner Syndrome	BEFREE	3974621		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	17653764	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	27460091	Associate	★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	17029216		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35536165	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35536165	Associate	★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	29513361	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	24252196, 34627174	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	28472728	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	29664240		★☆☆☆☆ Found in Text Mining only
Hereditary Sensory Autonomic Neuropathy, Type 1	Hereditary sensory and autonomic neuropathy	BEFREE	9371409		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	22467238	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	28704716	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	24135642		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	25566891	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Cancer	Intestinal Cancer	CTD_human_DG	16962818		★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	CTD_human_DG	16962818		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratitis	Keratitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	16507781	Associate	★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	18442012		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	15922480, 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	12376498, 17913280		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	22467238, 26159902, 26317794	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	27492607	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	10529736, 23818366, 9864090		★☆☆☆☆ Found in Text Mining only
Lynch Syndrome	Lynch Syndrome	BEFREE	29664240		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18990233, 21751184, 24642895, 29953005		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	16284373, 16806437		★☆☆☆☆ 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	12376498, 12663511, 15333465, 15837542, 17531525, 17913280, 21195504, 21611749, 21866550, 24696258, 27460688		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	18442012		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	8973600		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	20506255		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	10651981, 12509227, 28528167, 30089811, 7614689, 7675086, 7962783, 9415314		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	CTD_human_DG	10755388, 16962818		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	20817763, 26760766		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	28222669		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10529736, 16315315, 21866550, 23807173, 25115435		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	29675892		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	23622385		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	26880244, 27197874, 36232946	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	28472728		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	28472728	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	26156020, 27253463		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	26156020	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10529736, 11077043, 11695546, 12359753, 16951227, 22966016, 25491297, 27460091, 29675892, 31107542		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	24252196, 25913378, 34627174	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	11338401, 26090552, 8765158		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	15582744		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	22182450	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	10759556, 12177298, 24252196	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	16195237, 21188533, 21195504, 22511383, 25069034, 26159902, 27473273		★☆☆☆☆ Found in Text Mining only
Nystagmus, End-Position	Nystagmus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	21826087		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	8973600		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	15844177	Inhibit	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	37240218, 38300970, 8040325	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	20506255		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	9864090		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pena Shokeir syndrome type 1	Pena-shokeir syndrome	Pubtator	38040034	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	9371409		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	9371409		★☆☆☆☆ Found in Text Mining only
Poikiloderma	Poikiloderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	LHGDN	17848622		★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	BEFREE	19851476, 28515154		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	36509750	Associate	★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	29506519	Associate	★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	29675892		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	10529736		★☆☆☆☆ Found in Text Mining only
Seborrheic dermatitis	Seborrheic dermatitis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	23928520		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	25566891		★☆☆☆☆ Found in Text Mining only
Skin Abnormalities	Skin abnormalities	Pubtator	25913378	Associate	★☆☆☆☆ Found in Text Mining only
Skin carcinoma	Skin Carcinoma	BEFREE	17687452		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	24063568, 8105686	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	20574439, 8740317		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	CTD_human_DG	10755388, 16962818		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin Neoplasms	Skin neoplasm	Pubtator	17687452, 27197874, 30089811, 36893274, 9284095	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin Neoplasms	Skin neoplasm	Pubtator	24252196	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin Neoplasms	Skin Neoplasms	BEFREE	28528167, 28548949, 7675086		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Carcinoma	BEFREE	15333465, 15598745, 21195504, 27622501, 30089811, 9496908, 9864090		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	16513681, 17653764		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	20128036		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	27622501, 33714009, 35390246, 36118674	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	29528139	Inhibit	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	16979838, 21861228, 29528139, 30498981		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	20817763, 26760766		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27340861	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular neoplasm	Pubtator	10074455	Associate	★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular Neoplasms	LHGDN	15095299		★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular Neoplasms	BEFREE	16315315, 18240296		★☆☆☆☆ Found in Text Mining only
Trichothiodystrophy Syndromes	Trichothiodystrophy	BEFREE	10416615		★☆☆☆☆ Found in Text Mining only
Trichothiodystrophy Syndromes	Trichothiodystrophy	Pubtator	11710928	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	28222669	Inhibit	★☆☆☆☆ Found in Text Mining only
Vertical supranuclear gaze palsy	Supranuclear gaze palsy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Xeroderma	Xeroderma	BEFREE	10841197		★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	11338401, 14705792, 16905156, 18037231, 18927284, 1918083, 20456494, 21751198, 23622385, 23928520, 24063568, 25566891, 25913378, 27982466, 28991657, 30089811, 31505093, 7519740, 7577588, 7675086, 7829076		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xeroderma Pigmentosum	Xeroderma pigmentosum	Pubtator	1188925, 18470933, 18927284, 1918083, 19917958, 23755135, 24063568, 25056193, 25491297, 25566891, 25913378, 26874523, 27413738, 28704716, 28719581, 28860187, 29208038, 30089811, 31478152, 36232946, 36893274, 38040034, 6267601, 7876167, 8105686, 8386177	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xeroderma Pigmentosum	Xeroderma Pigmentosum	LHGDN	12459522, 17653764, 18585952		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xeroderma Pigmentosum	Xeroderma Pigmentosum	CLINVAR_DG	1372103, 19917958, 20534089, 26302748, 27607234, 29208038, 9671271		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xeroderma pigmentosum	Xeroderma Pigmentosum	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xeroderma Pigmentosum	Xeroderma pigmentosum	Pubtator	2168562	Inhibit	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xeroderma Pigmentosum	Xeroderma Pigmentosum	CTD_human_DG	24084170		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xeroderma Pigmentosum Complementation Group B	Xeroderma pigmentosum	Pubtator	10102040, 8105686	Associate	★☆☆☆☆ Found in Text Mining only
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C	Xeroderma Pigmentosum	BEFREE	12396616, 12525703, 17682058		★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum, Complementation Group D	Xeroderma Pigmentosum	BEFREE	16195237		★☆☆☆☆ Found in Text Mining only
Xeroderma pigmentosum, group A	Xeroderma Pigmentosum	UNIPROT_DG	10447254, 1339397, 1372103, 8504220, 9671271		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xeroderma pigmentosum, group A	Xeroderma Pigmentosum	BEFREE	10814539, 12208738, 12459522, 12509227, 1339397, 1372103, 1380654, 14676109, 15214909, 15333465, 1601884, 16098033, 1741034, 1764072, 18085531, 1918083, 2002813, 20103727, 20128036, 20199544, 20574439, 20811663, 20947490, 21707758, 2182882, 22168765, 2234061, 22467238, 2308593, 2366820, 2454402, 25115435, 26090552, 26156020, 27603812, 28098755, 28860187, 3030571, 3035572, 31092331, 31237690, 3336371, 3974621, 699169, 7577588, 7614689, 7947212, 8027583, 8101209, 8105686, 8353849, 8464385, 8504485, 8596539, 8740317, 8814338, 8824513, 8825598, 9054619, 9110400, 9496908, 9671271, 9753735		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xeroderma pigmentosum, group A	Xeroderma Pigmentosum	CLINGEN_DG	11687625, 11950998, 1339397, 1372102, 2234061, 24105368, 7675085		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xeroderma pigmentosum, group A	Xeroderma Pigmentosum	CLINVAR_DG	1372102, 1372103, 15214909, 16491090, 16905156, 1702221, 19917958, 20054342, 20199544, 20534089, 20574439, 22081045, 23194742, 25256075, 25525159, 25566891, 27607234, 27982466, 7876263, 9101292, 9671271		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xeroderma pigmentosum, group A	Xeroderma Pigmentosum	GENOMICS_ENGLAND_DG	16098033, 2168777, 26302748, 26743599, 26884178, 30565713		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xeroderma pigmentosum, group F	Xeroderma Pigmentosum	BEFREE	25115435		★☆☆☆☆ Found in Text Mining only
Xeroderma pigmentosum, group G	Xeroderma Pigmentosum	BEFREE	18204222		★☆☆☆☆ Found in Text Mining only