ERCC3 (ERCC excision repair 3, TFIIH core complex helicase subunit)

Gene

• Entrez ID: 2071
• Gene name: ERCC excision repair 3, TFIIH core complex helicase subunit
• Gene symbol: ERCC3
• Synonyms (NCBI Gene): BTF2, GTF2H, RAD25, Ssl2, TFIIH, TTD2, XPB
• Chromosome: 2
• Chromosome location: 2q14.3
• Summary: This gene encodes an ATP-dependent DNA helicase that functions in nucleotide excision repair. The encoded protein is a subunit of basal transcription factor 2 (TFIIH) and, therefore, also functions in class II transcription. Mutations in this gene are ass

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs4150521	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, not-provided	Coding sequence variant, missense variant
rs34295337	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained, intron variant
rs121913045	A>G	Pathogenic	Intron variant, coding sequence variant, missense variant
rs121913046	T>G	Pathogenic	Intron variant, coding sequence variant, missense variant
rs121913047	G>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs121913048	G>A	Pathogenic	Stop gained, coding sequence variant
rs138385061	G>A,C	Pathogenic	Coding sequence variant, missense variant, stop gained
rs587778281	->T	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs866379139	AA>-	Pathogenic	Coding sequence variant, stop gained
rs1302552127	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1404157087	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1404293670	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1558964705	C>T	Pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004849	hsa-miR-192-5p	Luciferase reporter assay, qRT-PCR	19074876
MIRT004849	hsa-miR-192-5p	Luciferase reporter assay, qRT-PCR, Western blot	21672525
MIRT004849	hsa-miR-192-5p	Luciferase reporter assay, qRT-PCR, Western blot	21672525
MIRT004849	hsa-miR-192-5p	Luciferase reporter assay, qRT-PCR, Western blot	21672525
MIRT004849	hsa-miR-192-5p	Luciferase reporter assay, qRT-PCR, Western blot	21672525
MIRT004849	hsa-miR-192-5p	Luciferase reporter assay, qRT-PCR, Western blot	21672525
MIRT004849	hsa-miR-192-5p	Luciferase reporter assay, qRT-PCR, Western blot	21672525
MIRT024493	hsa-miR-215-5p	Microarray	19074876
MIRT004849	hsa-miR-192-5p	Reporter assay;Microarray;Other	19074876
MIRT045169	hsa-miR-186-5p	CLASH	23622248
MIRT968386	hsa-miR-10a	CLIP-seq
MIRT968387	hsa-miR-10b	CLIP-seq
MIRT968388	hsa-miR-1252	CLIP-seq
MIRT968389	hsa-miR-204	CLIP-seq
MIRT968390	hsa-miR-211	CLIP-seq
MIRT968391	hsa-miR-3065-3p	CLIP-seq
MIRT968392	hsa-miR-3190	CLIP-seq
MIRT968393	hsa-miR-3195	CLIP-seq
MIRT968394	hsa-miR-3202	CLIP-seq
MIRT968395	hsa-miR-4480	CLIP-seq
MIRT968396	hsa-miR-4533	CLIP-seq
MIRT968397	hsa-miR-4635	CLIP-seq
MIRT968398	hsa-miR-583	CLIP-seq
MIRT968399	hsa-miR-887	CLIP-seq
MIRT1987029	hsa-miR-4286	CLIP-seq
MIRT2525064	hsa-miR-3163	CLIP-seq
MIRT2525065	hsa-miR-340	CLIP-seq
MIRT2525066	hsa-miR-4279	CLIP-seq
MIRT1987029	hsa-miR-4286	CLIP-seq
MIRT2525067	hsa-miR-548aa	CLIP-seq
MIRT2525068	hsa-miR-561	CLIP-seq
MIRT1987029	hsa-miR-4286	CLIP-seq
MIRT2525068	hsa-miR-561	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000112	Component	Nucleotide-excision repair factor 3 complex	IBA
GO:0000166	Function	Nucleotide binding	IEA
GO:0000439	Component	Transcription factor TFIIH core complex	IDA	8692841, 8692842
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	8663148
GO:0003678	Function	DNA helicase activity	IEA
GO:0003684	Function	Damaged DNA binding	NAS	2167179
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	7663514, 7926747, 8652557, 8692842, 9173976, 10734143, 10801852, 16669699, 17438371, 17466626, 19172752, 19934020, 21988832, 25416956, 26496610, 27193682, 28514442, 31515488, 32296183, 33961781, 34591642
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	8663148
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	IBA
GO:0005675	Component	Transcription factor TFIIH holo complex	IDA	9852112
GO:0005675	Component	Transcription factor TFIIH holo complex	TAS	7663514
GO:0006265	Process	DNA topological change	IMP	8663148
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	IMP	2167179
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	IMP	8692841, 17466626, 17509950
GO:0006366	Process	Transcription by RNA polymerase II	IDA	9852112
GO:0006366	Process	Transcription by RNA polymerase II	IMP	8663148
GO:0006366	Process	Transcription by RNA polymerase II	TAS
GO:0006367	Process	Transcription initiation at RNA polymerase II promoter	IBA
GO:0006367	Process	Transcription initiation at RNA polymerase II promoter	IDA	8692841
GO:0006367	Process	Transcription initiation at RNA polymerase II promoter	IEA
GO:0006368	Process	Transcription elongation by RNA polymerase II	TAS
GO:0006915	Process	Apoptotic process	IMP	8675009
GO:0006974	Process	DNA damage response	IEA
GO:0006979	Process	Response to oxidative stress	IMP	17614221
GO:0008104	Process	Intracellular protein localization	IMP	17509950
GO:0009411	Process	Response to UV	IMP	17509950
GO:0009650	Process	UV protection	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IDA	17466626
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0035315	Process	Hair cell differentiation	IBA
GO:0035315	Process	Hair cell differentiation	IMP	11335038
GO:0043065	Process	Positive regulation of apoptotic process	IDA	16914395
GO:0043138	Function	3'-5' DNA helicase activity	IBA
GO:0043138	Function	3'-5' DNA helicase activity	IDA	17466626
GO:0043138	Function	3'-5' DNA helicase activity	IMP	8663148
GO:0043138	Function	3'-5' DNA helicase activity	TAS
GO:0048568	Process	Embryonic organ development	IBA
GO:0097550	Component	Transcription preinitiation complex	IBA
GO:1901990	Process	Regulation of mitotic cell cycle phase transition	IMP	17088560
GO:1990841	Function	Promoter-specific chromatin binding	IEA

Other IDs

• MIM: 133510
• HGNC: 3435
• e!Ensembl: ENSG00000163161

Protein

• UniProt ID: P19447
• Protein name: General transcription and DNA repair factor IIH helicase/translocase subunit XPB (TFIIH subunit XPB) (EC 5.6.2.4) (Basic transcription factor 2 89 kDa subunit) (BTF2 p89) (DNA 3'-5' helicase/translocase XPB) (DNA excision repair protein ERCC-3) (DNA repai
• Protein function: ATP-dependent 3'-5' DNA helicase/translocase (PubMed:17466626, PubMed:27193682, PubMed:33902107, PubMed:8465201, PubMed:8663148). Binds dsDNA rather than ssDNA, unzipping it in a translocase rather than classical helicase activity (PubMed:271936
• PDB: 4ERN, 5IVW, 5IY6, 5IY7, 5IY8, 5IY9, 5OF4, 6NMI, 6O9L, 6O9M, 6RO4, 7AD8, 7EGB, 7EGC, 7ENA, 7ENC, 7LBM, 7NVR, 7NVV, 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
  PF13625	Helicase_C_3	76 → 203	Helicase conserved C-terminal domain	Domain
  PF04851	ResIII	313 → 472	Type III restriction enzyme, res subunit	Family
  PF16203	ERCC3_RAD25_C	496 → 742	ERCC3/RAD25/XPB C-terminal helicase	Domain

• Sequence:

  MGKRDRADRDKKKSRKRHYEDEEDDEEDAPGNDPQEAVPSAAGKQVDESGTKVDEYGAKD
  YRLQMPLKDDHTSRPLWVAPDGHIFLEAFSPVYKYAQDFLVAIAEPVCRPTHVHEYKLTA
  YSLYAAVSVGLQTSDITEYLRKLSKTGVPDGIMQFIKLCTVSYGKVKLVLKHNRYFVESC
  HPDVIQHLLQDPVIRECRLRNSEGEATELITETFTSKSAISKTAESSGGPSTSRVTDPQG
  KSDIPMDLFDFYEQMDKDEEEEEETQTVSFEVKQEMIEELQKRCIHLEYPLLAEYDFRND
  SVNPDINIDLKPTAVLRPYQEKSLRKMFGNGRARSGVIVLPCGAGKSLVGVTAACTVRKR
  CLVLGNSAVSVEQWKAQFKMWSTIDDSQICRFTSDAKDKPIGCSVAISTYSMLGHTTKRS
  WEAERVMEWLKTQEWGLMILDEVHTIPAKMFRRVLTIVQAHCKLGLTATLVREDDKIVDL
  NFLIGPKLYEANWMELQNNGYIAKVQCAEVWCPMSPEFYREYVAIKTKKRILLYTMNPNK
  FRACQFLIKFHERRNDKIIVFADNVFALKEYAIRLNKPYIYGPTSQGERMQILQNFKHNP
  KINTIFISKVGDTSFDLPEANVLIQISSHGGSRRQEAQRLGRVLRAKKGMVAEEYNAFFY
  SLVSQDTQEMAYSTKRQRFLVDQGYSFKVITKLAGMEEEDLAFSTKEEQQQLLQKVLAAT
  DLDAEEEVVAGEFGSRSSQASRRFGTMSSMSGADDTVYMEYHSSRSKAPSKHVHPLFKRF
  RK

• Sequence length: 782

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

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
ERCC3-related disorder	Likely pathogenic; Pathogenic	rs587778281, rs34295337, rs774261851	RCV004757130 RCV004757184 RCV004757280	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs34295337	RCV005251109	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian cancer	Likely pathogenic	rs1237725504	RCV003154789	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs56116802	RCV005925406	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Trichothiodystrophy 2, photosensitive	Likely pathogenic; Pathogenic	rs753182861, rs1055129064, rs778865255, rs56116802, rs587778281, rs768687646, rs763315862, rs1434876636, rs755760603, rs34295337, rs121913045, rs121913046, rs121913047, rs774261851, rs1302552127, rs150954655	RCV002476722 RCV002478003 RCV002489864 RCV005025553 RCV002477310 RCV002507014 RCV005025533 RCV005019216 RCV005025908 RCV002487171 RCV005025066 RCV000018052 RCV004541009 RCV005029432 RCV005029555 RCV005014332	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xeroderma pigmentosum	Likely pathogenic; Pathogenic	rs753182861, rs778865255, rs56116802, rs587778281, rs1420747225, rs1434876636, rs34295337, rs1558964705, rs138385061	RCV002256755 RCV003226493 RCV002266076 RCV002255296 RCV002257080 RCV003317611 RCV001175535 RCV003226162 RCV004800578	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xeroderma pigmentosum group B	Likely pathogenic; Pathogenic	rs753182861, rs1055129064, rs778865255, rs56116802, rs587778281, rs768687646, rs763315862, rs1434876636, rs755760603, rs34295337, rs200733704, rs121913045, rs121913047, rs866379139, rs121913048, rs1558964705, rs755764533, rs138385061, rs774261851, rs1404157087, rs1404293670, rs1302552127, rs150954655	RCV002476722 RCV002478003 RCV002489864 RCV005025553 RCV000018055 RCV002507014 RCV003136379 RCV002472162 RCV005025908 RCV000986812 RCV000018050 RCV000018051 RCV000018053 RCV000018054 RCV000018056 RCV000018057 RCV004595407 RCV000770819 RCV005029432 RCV000986806 RCV000986811 RCV005029555 RCV001523810	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; -	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-NEOPLASTIC PERIPHERAL NERVOUS SYSTEM DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NERVOUS SYSTEM DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRICHOTHIODYSTROPHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRICHOTHIODYSTROPHY SYNDROMES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XERODERMA PIGMENTOSUM AND COCKAYNE SYNDROME COMPLEX	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XERODERMA PIGMENTOSUM, GROUP B	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX	—	HPO, Orphanet HPO, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenoleukodystrophy	Adrenoleukodystrophy	Pubtator	9012405	Associate	★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arsenic Encephalopathy	Arsenic Encephalopathy	CTD_human_DG	12569548		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Basal cell carcinoma	Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Bilateral microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom syndrome	Pubtator	16288211	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27655433, 7491121		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27655433, 32427313, 39742368	Associate	★☆☆☆☆ Found in Text Mining only
Bronchospasm	Bronchospasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	19840190	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26967386	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	16835333		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	35819261	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	14614013, 23951333		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	29036418		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrooculofacioskeletal Syndrome 1	Cerebrooculofacioskeletal Syndrome	BEFREE	11443545		★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	10699759		★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne syndrome	Pubtator	10064601, 10786832, 11443545, 16246722, 19840190, 21965540, 27004399, 28902838, 34096589, 8294433, 8663148, 9012405, 9422774, 9774388	Associate	★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne Syndrome	BEFREE	10660593, 11077043, 1454518, 1458540, 14726016, 15608684, 16246722, 16947863, 17466625, 1747940, 18077223, 19008953, 1916809, 1956789, 19840190, 21571596, 2167179, 21965540, 25641424, 26149386, 31110295, 7746858, 8294433, 8465201, 9278484		★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome, Type I	Cockayne Syndrome	BEFREE	24781187		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23594796		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29568775	Associate	★☆☆☆☆ Found in Text Mining only
Congenital ankyloblepharon	Congenital Ankyloblepharon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exfoliative erythroderma	Congenital exfoliative erythroderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Nonbullous Ichthyosiform Erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conjunctival telangiectasis	Conjunctival Telangiectasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cortical cataract	Cortical cataract	BEFREE	17466625, 26149386		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	HPO_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
Cutaneous Melanoma	Melanoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	9671271		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	31064989		★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diffuse panbronchiolitis	Diffuse Panbronchiolitis	BEFREE	12185533		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	10328528		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectropion	Ectropion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Entropion	Entropion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	14614013		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	15375507		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	15375507		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	LHGDN	15375507		★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eye Neoplasms	Eye Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	28423363	Associate	★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal Dysgenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	17466625, 26149386		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	23720401, 24020925		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	23720401	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	30306255	Associate	★☆☆☆☆ Found in Text Mining only
HMN (Hereditary Motor Neuropathy) Proximal Type I	Hereditary Motor Neuropathy	BEFREE	8981949		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	29036418		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of mandible relative to maxilla	Hypoplasia of mandible relative to maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	29036418		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired social reciprocity	Impaired social reciprocity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoconjunctivitis Sicca	Keratoconjunctivitis Sicca	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukomalacia, Periventricular	Periventricular Leukomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	23797950		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	16914395		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	20198302		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	16835333		★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	17255358	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	23720401, 24020925		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27655433		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	15375507		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16835333		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	23951333		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10734072		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	18470933, 18817897, 30227140		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30854110		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11239393, 11765063, 15221960, 15678607, 21571596		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	23940574, 30651597		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	23940574	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
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	28588253		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	28588253	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	27838878		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	14614013, 20198302, 2167179, 21971700, 23940574, 29065309		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	27051024, 28474168		★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	14614013		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	23951333		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	35819261	Associate	★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Paraplegia/paraparesis	Paraplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Partial agenesis of corpus callosum	Partial Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	CTD_human_DG	20864405		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Poikiloderma	Poikiloderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	21571596		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10734072		★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	8194528, 9427533	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Central	Sleep Apnea	BEFREE	24781187		★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	8981949		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	15375507		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	11900225, 29528139	Inhibit	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	36118674	Associate	★☆☆☆☆ 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	29065309, 29528139		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	31828418		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30854110		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27340861	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	16648759		★☆☆☆☆ Found in Text Mining only
Trichothiodystrophy	Trichothiodystrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE	Trichothiodystrophy	UNIPROT_DG	9012405		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE	Trichothiodystrophy	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE	Trichothiodystrophy	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE	Trichothiodystrophy	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Trichothiodystrophy Syndromes	Trichothiodystrophy	Pubtator	10064601, 18579452, 22234153, 25290684, 25620205, 28902838, 30580289, 9012405, 9422774	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trichothiodystrophy Syndromes	Trichothiodystrophy	BEFREE	10332046, 10660593, 11062469, 11734544, 12393803, 12820975, 14726016, 15590337, 15608684, 18077223, 18470933, 18579452, 19008953, 19172752, 19808800, 19931493, 21571596, 21730288, 22234153, 25340339, 25605938, 25620205, 25641424, 30068551, 30359777, 7613092, 9012405, 9651581, 9771713		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trichothiodystrophy Syndromes	Trichothiodystrophy	ORPHANET_DG	12393803		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trichothiodystrophy Syndromes	Trichothiodystrophy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urticaria	Urticaria	HPO_DG			★☆☆☆☆ Found in Text Mining only
UV-Sensitive Syndrome	UV-Sensitive Syndrome	BEFREE	27004399		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams syndrome	Pubtator	16288211	Associate	★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	10064601, 10332046, 10467415, 10660593, 11239393, 11734544, 11955452, 12393803, 12820975, 1458540, 14726016, 15608684, 16167068, 16947863, 1747940, 18077223, 19008953, 1916809, 1956789, 19840190, 19934020, 21571596, 2167179, 22234153, 23276657, 23623389, 25605938, 25620205, 25641424, 29616226, 31838380, 7746858, 7980491, 8304337, 8465201, 9012405, 9278484, 9557707		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xeroderma Pigmentosum	Xeroderma pigmentosum	Pubtator	10064601, 11027286, 1333609, 17466626, 17509950, 18579452, 20208140, 21388382, 23623389, 25620205, 26874523, 27004399, 28902838, 31838380, 8194528, 8663148, 8675009, 9351836, 9422774, 9557707	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xeroderma pigmentosum	Xeroderma Pigmentosum	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xeroderma pigmentosum and Cockayne syndrome complex	Xeroderma Pigmentosum-Cockayne Syndrome Complex	BEFREE	10332046, 16167068, 27004399		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xeroderma Pigmentosum Complementation Group B	Xeroderma pigmentosum	Pubtator	26681190, 8294433, 8663148	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 D	Xeroderma Pigmentosum	BEFREE	11242112, 20797633, 22234153, 7663514, 9427533		★☆☆☆☆ Found in Text Mining only
Xeroderma pigmentosum, group A	Xeroderma Pigmentosum	BEFREE	9753735		★☆☆☆☆ Found in Text Mining only
Xeroderma pigmentosum, group B	Xeroderma Pigmentosum	UNIPROT_DG	10447254, 16947863, 8304337		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xeroderma pigmentosum, group B	Xeroderma Pigmentosum	BEFREE	11077043, 1916809, 22234153, 28588253, 29959982, 31516394, 7491121, 8157004, 8196650, 8663148		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xeroderma pigmentosum, group B	Xeroderma Pigmentosum	CLINGEN_DG	16947863, 19114557, 2167179, 24105368, 26884178		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xeroderma pigmentosum, group B	Xeroderma Pigmentosum	GENOMICS_ENGLAND_DG	16947863, 8408834		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xeroderma pigmentosum, group B	Xeroderma Pigmentosum	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xeroderma pigmentosum, group B	Xeroderma Pigmentosum	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xeroderma pigmentosum, group G	Xeroderma Pigmentosum	BEFREE	26149386		★☆☆☆☆ Found in Text Mining only
Xeroderma pigmentosum-Cockayne syndrome complex	Xeroderma Pigmentosum-Cockayne Syndrome Complex	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations