DDB2 (damage specific DNA binding protein 2)

Gene

• Entrez ID: 1643
• Gene name: Damage specific DNA binding protein 2
• Gene symbol: DDB2
• Synonyms (NCBI Gene): DDBB, UV-DDB2, XPE
• Chromosome: 11
• Chromosome location: 11p11.2
• Summary: This gene encodes a protein that is necessary for the repair of ultraviolet light-damaged DNA. This protein is the smaller subunit of a heterodimeric protein complex that participates in nucleotide excision repair, and this complex mediates the ubiquityla

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434639	A>G	Pathogenic	Coding sequence variant, intron variant, missense variant
rs121434640	G>A	Pathogenic	Coding sequence variant, intron variant, missense variant
rs121434641	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, intron variant
rs121434642	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs1336484333	AAAG>-	Likely-pathogenic	Stop gained, coding sequence variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020865	hsa-miR-155-5p	Proteomics	18668040
MIRT029978	hsa-miR-26b-5p	Microarray	19088304
MIRT756022	hsa-miR-125a-5p	Luciferase reporter assay, Western blotting, qRT-PCR	36636074
MIRT756025	hsa-miR-125b-5p	Luciferase reporter assay, Western blotting, qRT-PCR	36636074
MIRT928800	hsa-miR-3187-3p	CLIP-seq
MIRT928801	hsa-miR-4264	CLIP-seq
MIRT928802	hsa-miR-4435	CLIP-seq
MIRT928803	hsa-miR-4529-5p	CLIP-seq
MIRT928804	hsa-miR-4701-5p	CLIP-seq
MIRT928805	hsa-miR-4798-5p	CLIP-seq
MIRT928806	hsa-miR-548s	CLIP-seq
MIRT928807	hsa-miR-584	CLIP-seq
MIRT928808	hsa-miR-588	CLIP-seq
MIRT1975060	hsa-miR-3065-3p	CLIP-seq
MIRT1975061	hsa-miR-4726-3p	CLIP-seq
MIRT2514460	hsa-miR-128	CLIP-seq
MIRT2514461	hsa-miR-188-3p	CLIP-seq
MIRT2514462	hsa-miR-198	CLIP-seq
MIRT1975060	hsa-miR-3065-3p	CLIP-seq
MIRT2514463	hsa-miR-3143	CLIP-seq
MIRT2514464	hsa-miR-3150b-3p	CLIP-seq
MIRT2514465	hsa-miR-3184	CLIP-seq
MIRT2514466	hsa-miR-3189-5p	CLIP-seq
MIRT2514467	hsa-miR-326	CLIP-seq
MIRT2514468	hsa-miR-330-5p	CLIP-seq
MIRT2514469	hsa-miR-3609	CLIP-seq
MIRT2514470	hsa-miR-3612	CLIP-seq
MIRT2514471	hsa-miR-3657	CLIP-seq
MIRT2514472	hsa-miR-3663-3p	CLIP-seq
MIRT2514473	hsa-miR-3671	CLIP-seq
MIRT2514474	hsa-miR-371b-3p	CLIP-seq
MIRT2514475	hsa-miR-423-5p	CLIP-seq
MIRT2514476	hsa-miR-4274	CLIP-seq
MIRT2514477	hsa-miR-4443	CLIP-seq
MIRT2514478	hsa-miR-4645-5p	CLIP-seq
MIRT2514479	hsa-miR-4673	CLIP-seq
MIRT2514480	hsa-miR-4719	CLIP-seq
MIRT2514481	hsa-miR-4729	CLIP-seq
MIRT2514482	hsa-miR-4758-3p	CLIP-seq
MIRT2514483	hsa-miR-4784	CLIP-seq
MIRT2514484	hsa-miR-4797-5p	CLIP-seq
MIRT2514485	hsa-miR-4803	CLIP-seq
MIRT2514486	hsa-miR-516b	CLIP-seq
MIRT2514487	hsa-miR-520a-5p	CLIP-seq
MIRT2514488	hsa-miR-525-5p	CLIP-seq
MIRT2514489	hsa-miR-548ah	CLIP-seq
MIRT2514490	hsa-miR-548n	CLIP-seq
MIRT2514491	hsa-miR-548t	CLIP-seq
MIRT2514492	hsa-miR-593	CLIP-seq
MIRT2514493	hsa-miR-650	CLIP-seq
MIRT2514494	hsa-miR-659	CLIP-seq
MIRT2514460	hsa-miR-128	CLIP-seq
MIRT2514461	hsa-miR-188-3p	CLIP-seq
MIRT2514462	hsa-miR-198	CLIP-seq
MIRT2514463	hsa-miR-3143	CLIP-seq
MIRT2514464	hsa-miR-3150b-3p	CLIP-seq
MIRT2514466	hsa-miR-3189-5p	CLIP-seq
MIRT2514467	hsa-miR-326	CLIP-seq
MIRT2514468	hsa-miR-330-5p	CLIP-seq
MIRT2514470	hsa-miR-3612	CLIP-seq
MIRT2514471	hsa-miR-3657	CLIP-seq
MIRT2514474	hsa-miR-371b-3p	CLIP-seq
MIRT2514476	hsa-miR-4274	CLIP-seq
MIRT2514477	hsa-miR-4443	CLIP-seq
MIRT1975061	hsa-miR-4726-3p	CLIP-seq
MIRT2514481	hsa-miR-4729	CLIP-seq
MIRT2514482	hsa-miR-4758-3p	CLIP-seq
MIRT2514483	hsa-miR-4784	CLIP-seq
MIRT2514485	hsa-miR-4803	CLIP-seq
MIRT2514486	hsa-miR-516b	CLIP-seq
MIRT2514487	hsa-miR-520a-5p	CLIP-seq
MIRT2514488	hsa-miR-525-5p	CLIP-seq
MIRT2514490	hsa-miR-548n	CLIP-seq
MIRT2514491	hsa-miR-548t	CLIP-seq
MIRT2514492	hsa-miR-593	CLIP-seq
MIRT2514493	hsa-miR-650	CLIP-seq
MIRT2514494	hsa-miR-659	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
BRCA1	Activation	12170778
NF1	Unknown	12527763
SP1	Unknown	12527763
TP53	Activation	16357511
TP53	Unknown	12771027;12967652;15856024;15927209;22336944
TP63	Unknown	17984111

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000209	Process	Protein polyubiquitination	IDA	12732143
GO:0000785	Component	Chromatin	ISS	33937266
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	8798680
GO:0003684	Function	Damaged DNA binding	IBA
GO:0003684	Function	Damaged DNA binding	IDA	22334663
GO:0003684	Function	Damaged DNA binding	IEA
GO:0003684	Function	Damaged DNA binding	ISS	33937266
GO:0003684	Function	Damaged DNA binding	TAS	8407967
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	12732143
GO:0005515	Function	Protein binding	IPI	9418871, 12732143, 16473935, 16949367, 17041588, 17360488, 19109893, 19966799, 21145461, 22039351, 22822215, 26496610, 28514442, 30945288, 32814053, 33961781, 35271311
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	14751237
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	22118460
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0006281	Process	DNA repair	IBA
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	TAS	8798680
GO:0006289	Process	Nucleotide-excision repair	IDA	19109893
GO:0006289	Process	Nucleotide-excision repair	ISS	33937266
GO:0006289	Process	Nucleotide-excision repair	ISS	33937266
GO:0006289	Process	Nucleotide-excision repair	TAS	8407967
GO:0006290	Process	Pyrimidine dimer repair	IEA
GO:0006974	Process	DNA damage response	EXP	22118460
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	ISS
GO:0009411	Process	Response to UV	IBA
GO:0009411	Process	Response to UV	IDA	12732143
GO:0016567	Process	Protein ubiquitination	IEA
GO:0030054	Component	Cell junction	IDA
GO:0031464	Component	Cul4A-RING E3 ubiquitin ligase complex	EXP	22118460
GO:0031464	Component	Cul4A-RING E3 ubiquitin ligase complex	IEA
GO:0031465	Component	Cul4B-RING E3 ubiquitin ligase complex	IDA	22334663
GO:0032991	Component	Protein-containing complex	IDA	12732143
GO:0034644	Process	Cellular response to UV	EXP	22118460
GO:0034644	Process	Cellular response to UV	IEA
GO:0034644	Process	Cellular response to UV	ISS
GO:0044877	Function	Protein-containing complex binding	IPI	11564863
GO:0051865	Process	Protein autoubiquitination	IDA	12732143
GO:0070914	Process	UV-damage excision repair	IDA	14751237, 22334663
GO:0080008	Component	Cul4-RING E3 ubiquitin ligase complex	IEA
GO:0080008	Component	Cul4-RING E3 ubiquitin ligase complex	IMP	16949367
GO:0090734	Component	Site of DNA damage	IDA	19109893

Other IDs

• MIM: 600811
• HGNC: 2718
• e!Ensembl: ENSG00000134574

Protein

• UniProt ID: Q92466
• Protein name: DNA damage-binding protein 2 (DDB p48 subunit) (DDBb) (Damage-specific DNA-binding protein 2) (UV-damaged DNA-binding protein 2) (UV-DDB 2)
• Protein function: Protein, which is both involved in DNA repair and protein ubiquitination, as part of the UV-DDB complex and DCX (DDB1-CUL4-X-box) complexes, respectively (PubMed:10882109, PubMed:11278856, PubMed:11705987, PubMed:12732143, PubMed:15882621, PubMe
• PDB: 3EI4, 3I7L, 4E54, 4E5Z, 6R8Y, 6R8Z, 6R90, 6R91, 6R92
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00400	WD40	232 → 271	WD domain, G-beta repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed; with highest levels in corneal endothelium and lowest levels in brain. Isoform D1 is highly expressed in brain and heart. Isoform D2, isoform D3 and isoform D4 are weakly expressed. {ECO:0000269|PubMed:14751237}
• Sequence:

  MAPKKRPETQKTSEIVLRPRNKRSRSPLELEPEAKKLCAKGSGPSRRCDSDCLWVGLAGP
  QILPPCRSIVRTLHQHKLGRASWPSVQQGLQQSFLHTLDSYRILQKAAPFDRRATSLAWH
  PTHPSTVAVGSKGGDIMLWNFGIKDKPTFIKGIGAGGSITGLKFNPLNTNQFYASSMEGT
  TRLQDFKGNILRVFASSDTINIWFCSLDVSASSRMVVTGDNVGNVILLNMDGKELWNLRM
  HKKKVTHVALNPCCDWFLATASVDQTVKIWDLRQVRGKASFLYSLPHRHPVNAACFSPDG
  ARLLTTDQKSEIRVYSASQWDCPLGLIPHPHRHFQHLTPIKAAWHPRYNLIVVGRYPDPN
  FKSCTPYELRTIDVFDGNSGKMMCQLYDPESSGISSLNEFNPMGDTLASAMGYHILIWSQ
  EEARTRK

• Sequence length: 427

Pathways

KEGG:

Nucleotide excision repair
p53 signaling pathway
Ubiquitin mediated proteolysis
Hepatitis B
Epstein-Barr virus infection
Pathways in cancer
Transcriptional misregulation in cancer
Colorectal cancer
Pancreatic cancer
Endometrial cancer
Glioma
Thyroid cancer
Basal cell carcinoma
Melanoma
Chronic myeloid leukemia
Small cell lung cancer
Non-small cell lung cancer
Breast cancer
Hepatocellular carcinoma
Gastric cancer

Reactome:

Ub-specific processing proteases
DNA Damage Recognition in GG-NER
Formation of Incision Complex in GG-NER
Dual Incision in GG-NER
TP53 Regulates Transcription of DNA Repair Genes
Neddylation

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
Xeroderma pigmentosum, group E	Pathogenic; Likely pathogenic	rs781655324, rs121434639, rs121434640, rs121434641, rs121434642, rs2540389596, rs1336484333	RCV001808076 RCV000009332 RCV000009333 RCV000009334 RCV000009335 RCV003225889 RCV002249484	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DDB2-related disorder	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xeroderma pigmentosum	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
XERODERMA PIGMENTOSUM GROUP E	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	30410671		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	30054844		★☆☆☆☆ 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
Basal cell carcinoma	Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19339246, 23774208, 30128822		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18431487, 19339246, 26650177, 33017027	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	10469312	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32090112	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	16522664		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36385010	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	25491297, 32508265	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	16357511, 24574518, 26130719, 29752431		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	23610444, 29021137, 30054844		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	29021137		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29568775, 30054844		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24259968, 35817785	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29568775	Stimulate	★☆☆☆☆ Found in Text Mining only
Congenital ankyloblepharon	Congenital Ankyloblepharon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	24770583		★☆☆☆☆ 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
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	CGI_DG			★☆☆☆☆ 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
Ectropion	Ectropion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	37142958	Associate	★☆☆☆☆ Found in Text Mining only
Entropion	Entropion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eye Neoplasms	Eye Neoplasms	HPO_DG			★☆☆☆☆ 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
Glioblastoma	Glioblastoma	LHGDN	18089819		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	16247447	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	37676284	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	16357511, 18431487	Associate	★☆☆☆☆ 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	31740787	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	35813480	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29942085		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	19339246, 23774208, 30128822		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16522664		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	16357511, 24574518, 26130719, 29752431		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	26617894		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28212551		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	12509284, 21388382		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	26760766		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24574518, 24770583, 26205499, 29021137, 31635251		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	23610444, 29021137, 30054844		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	16522664		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	18431487		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	23774208		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	16888633, 27487145		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	16888633	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	17597816, 23407396, 27487145, 37573316	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	CGI_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesothelioma Malignant	Mesothelioma	Pubtator	30700254	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	GWASCAT_DG	29942085		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17660462, 24574518, 26130719, 28212551, 30410671, 31635251, 31740787		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	27553023		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	29459183	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	31337976	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	29752431	Inhibit	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	16357511, 24574518, 26130719, 29752431		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	20013802, 24249678, 26130719	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	29752431	Inhibit	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	26617894		★☆☆☆☆ 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
Prostate carcinoma	Prostate cancer	BEFREE	28212551		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28212551	Associate	★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	20947490		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	21388382, 24753253, 37573316	Associate	★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	32457468	Associate	★☆☆☆☆ 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	27499003, 28425625, 29999543		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	31740787	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	30410671		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	26760766		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26760766	Inhibit	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26760766, 27340861, 36672781	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Supranuclear Palsy Progressive	Progressive supranuclear palsy	Pubtator	17357082	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31541611		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31541611	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	22705887		★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	10469312, 10771487, 11971958, 12499253, 12509284, 14560002, 17630510, 21388382, 27705808, 30251654		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Xeroderma Pigmentosum	Xeroderma pigmentosum	Pubtator	10469312, 10771487, 12732143, 14560002, 21388382, 24335308, 24753253, 24770583, 25491297, 28719581, 30251654	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Xeroderma Pigmentosum	Xeroderma pigmentosum	Pubtator	16473935	Inhibit	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Xeroderma Pigmentosum	Xeroderma Pigmentosum	LHGDN	17660462		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Xeroderma pigmentosum	Xeroderma Pigmentosum	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Xeroderma Pigmentosum Complementation Group E	Xeroderma pigmentosum	Pubtator	12170778, 12181326, 12527763, 16527807, 20368362, 22334663, 24760829, 37573316	Associate	★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum Complementation Group E	Xeroderma pigmentosum	Pubtator	16473935	Inhibit	★☆☆☆☆ Found in Text Mining only
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E	Xeroderma Pigmentosum	CLINGEN_DG	10469312, 12812979, 14769931, 15558025, 21107348, 24105368, 8798680		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E	Xeroderma Pigmentosum	BEFREE	10777490, 11704828, 11971958, 12509284, 12812979, 14560002, 16325378, 16473935, 16522664, 20368362, 21388382, 24760829		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E	Xeroderma Pigmentosum	CTD_human_DG	24753253		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E	Xeroderma Pigmentosum	GENOMICS_ENGLAND_DG	26884178, 8798680		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E	Xeroderma Pigmentosum	UNIPROT_DG	8798680		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E	Xeroderma Pigmentosum	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations