XDH (xanthine dehydrogenase)

Gene

• Entrez ID: 7498
• Gene name: Xanthine dehydrogenase
• Gene symbol: XDH
• Synonyms (NCBI Gene): XAN1, XO, XOR
• Chromosome: 2
• Chromosome location: 2p23.1
• Summary: Xanthine dehydrogenase belongs to the group of molybdenum-containing hydroxylases involved in the oxidative metabolism of purines. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct f

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs72549369	G>A	Pathogenic	Coding sequence variant, missense variant
rs119460972	G>A,C,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant, missense variant
rs148412639	C>G,T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Splice donor variant
rs376882470	C>G,T	Likely-pathogenic	Splice donor variant
rs760186813	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs773456900	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1172253757	C>A,G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1553411468	G>C	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1558674294	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1572530443	G>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT028928	hsa-miR-26b-5p	Microarray	19088304
MIRT756459	hsa-miR-199a-5p	Luciferase reporter assay, qRT-PCR	36920714
MIRT1495289	hsa-miR-103b	CLIP-seq
MIRT1495290	hsa-miR-1178	CLIP-seq
MIRT1495291	hsa-miR-1184	CLIP-seq
MIRT1495292	hsa-miR-129-5p	CLIP-seq
MIRT1495293	hsa-miR-154	CLIP-seq
MIRT1495294	hsa-miR-204	CLIP-seq
MIRT1495295	hsa-miR-211	CLIP-seq
MIRT1495296	hsa-miR-2116	CLIP-seq
MIRT1495297	hsa-miR-2117	CLIP-seq
MIRT1495298	hsa-miR-3074-3p	CLIP-seq
MIRT1495299	hsa-miR-3156-5p	CLIP-seq
MIRT1495300	hsa-miR-3606	CLIP-seq
MIRT1495301	hsa-miR-3660	CLIP-seq
MIRT1495302	hsa-miR-3692	CLIP-seq
MIRT1495303	hsa-miR-375	CLIP-seq
MIRT1495304	hsa-miR-4264	CLIP-seq
MIRT1495305	hsa-miR-4273	CLIP-seq
MIRT1495306	hsa-miR-4418	CLIP-seq
MIRT1495307	hsa-miR-4436b-5p	CLIP-seq
MIRT1495308	hsa-miR-4526	CLIP-seq
MIRT1495309	hsa-miR-455-3p	CLIP-seq
MIRT1495310	hsa-miR-4645-3p	CLIP-seq
MIRT1495311	hsa-miR-4677-5p	CLIP-seq
MIRT1495312	hsa-miR-4714-3p	CLIP-seq
MIRT1495313	hsa-miR-4729	CLIP-seq
MIRT1495314	hsa-miR-4753-3p	CLIP-seq
MIRT1495315	hsa-miR-4755-5p	CLIP-seq
MIRT1495316	hsa-miR-4761-5p	CLIP-seq
MIRT1495317	hsa-miR-4780	CLIP-seq
MIRT1495318	hsa-miR-4803	CLIP-seq
MIRT1495319	hsa-miR-496	CLIP-seq
MIRT1495320	hsa-miR-509-3-5p	CLIP-seq
MIRT1495321	hsa-miR-509-5p	CLIP-seq
MIRT1495322	hsa-miR-579	CLIP-seq
MIRT1495323	hsa-miR-623	CLIP-seq
MIRT1495324	hsa-miR-921	CLIP-seq
MIRT1495291	hsa-miR-1184	CLIP-seq
MIRT2149203	hsa-miR-124	CLIP-seq
MIRT2149204	hsa-miR-1244	CLIP-seq
MIRT2149205	hsa-miR-1297	CLIP-seq
MIRT2149206	hsa-miR-1302	CLIP-seq
MIRT2149207	hsa-miR-26a	CLIP-seq
MIRT2149208	hsa-miR-26b	CLIP-seq
MIRT2149209	hsa-miR-27a	CLIP-seq
MIRT2149210	hsa-miR-27b	CLIP-seq
MIRT2149211	hsa-miR-3122	CLIP-seq
MIRT2149212	hsa-miR-3199	CLIP-seq
MIRT2149213	hsa-miR-3913-5p	CLIP-seq
MIRT2149214	hsa-miR-4259	CLIP-seq
MIRT2149215	hsa-miR-4298	CLIP-seq
MIRT1495306	hsa-miR-4418	CLIP-seq
MIRT2149216	hsa-miR-4425	CLIP-seq
MIRT2149217	hsa-miR-4465	CLIP-seq
MIRT2149218	hsa-miR-4476	CLIP-seq
MIRT2149219	hsa-miR-4703-3p	CLIP-seq
MIRT1495312	hsa-miR-4714-3p	CLIP-seq
MIRT2149220	hsa-miR-4715-5p	CLIP-seq
MIRT2149221	hsa-miR-498	CLIP-seq
MIRT2149222	hsa-miR-506	CLIP-seq
MIRT1495320	hsa-miR-509-3-5p	CLIP-seq
MIRT1495321	hsa-miR-509-5p	CLIP-seq
MIRT2149223	hsa-miR-513a-5p	CLIP-seq
MIRT1495289	hsa-miR-103b	CLIP-seq
MIRT2369640	hsa-miR-106a	CLIP-seq
MIRT2369641	hsa-miR-106b	CLIP-seq
MIRT1495291	hsa-miR-1184	CLIP-seq
MIRT2369642	hsa-miR-1200	CLIP-seq
MIRT2149203	hsa-miR-124	CLIP-seq
MIRT2369643	hsa-miR-150	CLIP-seq
MIRT2369644	hsa-miR-17	CLIP-seq
MIRT2369645	hsa-miR-1976	CLIP-seq
MIRT2369646	hsa-miR-20a	CLIP-seq
MIRT2369647	hsa-miR-20b	CLIP-seq
MIRT2149209	hsa-miR-27a	CLIP-seq
MIRT2149210	hsa-miR-27b	CLIP-seq
MIRT2369648	hsa-miR-302a	CLIP-seq
MIRT2369649	hsa-miR-302b	CLIP-seq
MIRT2369650	hsa-miR-302c	CLIP-seq
MIRT2369651	hsa-miR-302d	CLIP-seq
MIRT2369652	hsa-miR-302e	CLIP-seq
MIRT2369653	hsa-miR-3119	CLIP-seq
MIRT2369654	hsa-miR-372	CLIP-seq
MIRT2369655	hsa-miR-373	CLIP-seq
MIRT2369656	hsa-miR-4269	CLIP-seq
MIRT2369657	hsa-miR-4279	CLIP-seq
MIRT2369658	hsa-miR-4324	CLIP-seq
MIRT1495306	hsa-miR-4418	CLIP-seq
MIRT2369659	hsa-miR-4422	CLIP-seq
MIRT2369660	hsa-miR-4433	CLIP-seq
MIRT2149218	hsa-miR-4476	CLIP-seq
MIRT2369661	hsa-miR-4514	CLIP-seq
MIRT2369662	hsa-miR-4692	CLIP-seq
MIRT1495312	hsa-miR-4714-3p	CLIP-seq
MIRT2369663	hsa-miR-4722-3p	CLIP-seq
MIRT2369664	hsa-miR-4722-5p	CLIP-seq
MIRT2369665	hsa-miR-4731-5p	CLIP-seq
MIRT2369666	hsa-miR-4742-5p	CLIP-seq
MIRT2369667	hsa-miR-4755-3p	CLIP-seq
MIRT2149222	hsa-miR-506	CLIP-seq
MIRT1495320	hsa-miR-509-3-5p	CLIP-seq
MIRT1495321	hsa-miR-509-5p	CLIP-seq
MIRT2369668	hsa-miR-512-3p	CLIP-seq
MIRT2149223	hsa-miR-513a-5p	CLIP-seq
MIRT2369669	hsa-miR-519d	CLIP-seq
MIRT2369670	hsa-miR-520a-3p	CLIP-seq
MIRT2369671	hsa-miR-520b	CLIP-seq
MIRT2369672	hsa-miR-520c-3p	CLIP-seq
MIRT2369673	hsa-miR-520d-3p	CLIP-seq
MIRT2369674	hsa-miR-520e	CLIP-seq
MIRT2369675	hsa-miR-520g	CLIP-seq
MIRT2369676	hsa-miR-520h	CLIP-seq
MIRT2369677	hsa-miR-544b	CLIP-seq
MIRT2369678	hsa-miR-93	CLIP-seq
MIRT2369679	hsa-miR-940	CLIP-seq
MIRT2463585	hsa-miR-1255a	CLIP-seq
MIRT2463586	hsa-miR-1255b	CLIP-seq
MIRT2463587	hsa-miR-1265	CLIP-seq
MIRT2463588	hsa-miR-2392	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000255	Process	Allantoin metabolic process	IDA	1619276
GO:0000255	Process	Allantoin metabolic process	IEA
GO:0004854	Function	Xanthine dehydrogenase activity	IBA
GO:0004854	Function	Xanthine dehydrogenase activity	IDA	8670112
GO:0004854	Function	Xanthine dehydrogenase activity	IEA
GO:0004855	Function	Xanthine oxidase activity	IDA	8670112, 17301077
GO:0004855	Function	Xanthine oxidase activity	IEA
GO:0005506	Function	Iron ion binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005615	Component	Extracellular space	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005777	Component	Peroxisome	IEA
GO:0005829	Component	Cytosol	IDA	1619276
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006147	Process	Guanine catabolic process	IEA
GO:0006148	Process	Inosine catabolic process	IDA	1619276
GO:0006148	Process	Inosine catabolic process	IEA
GO:0006149	Process	Deoxyinosine catabolic process	IDA	1619276
GO:0006149	Process	Deoxyinosine catabolic process	IEA
GO:0006154	Process	Adenosine catabolic process	IEA
GO:0006157	Process	Deoxyadenosine catabolic process	IEA
GO:0006161	Process	Deoxyguanosine catabolic process	IEA
GO:0006196	Process	AMP catabolic process	IDA	1619276
GO:0006196	Process	AMP catabolic process	IEA
GO:0006204	Process	IMP catabolic process	IDA	1619276
GO:0006204	Process	IMP catabolic process	IEA
GO:0007595	Process	Lactation	IEA
GO:0009114	Process	Hypoxanthine catabolic process	IDA	1619276
GO:0009114	Process	Hypoxanthine catabolic process	IEA
GO:0009115	Process	Xanthine catabolic process	IBA
GO:0009115	Process	Xanthine catabolic process	IDA	8670112, 17301077
GO:0009115	Process	Xanthine catabolic process	IEA
GO:0016226	Process	Iron-sulfur cluster assembly	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0030856	Process	Regulation of epithelial cell differentiation	IEA
GO:0042803	Function	Protein homodimerization activity	IPI	17301077
GO:0043546	Function	Molybdopterin cofactor binding	IDA	17301077
GO:0043546	Function	Molybdopterin cofactor binding	IEA
GO:0043605	Process	Amide catabolic process	IEA
GO:0046038	Process	GMP catabolic process	IEA
GO:0046055	Process	DGMP catabolic process	IEA
GO:0046059	Process	DAMP catabolic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050660	Function	Flavin adenine dinucleotide binding	IDA	17301077
GO:0050660	Function	Flavin adenine dinucleotide binding	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051537	Function	2 iron, 2 sulfur cluster binding	IDA	17301077
GO:0051537	Function	2 iron, 2 sulfur cluster binding	IEA
GO:0070674	Function	Hypoxanthine dehydrogenase activity	IDA	1619276
GO:0070674	Function	Hypoxanthine dehydrogenase activity	IEA
GO:0070675	Function	Hypoxanthine oxidase activity	IEA
GO:0071949	Function	FAD binding	IEA

Other IDs

• MIM: 607633
• HGNC: 12805
• e!Ensembl: ENSG00000158125

Protein

• UniProt ID: P47989
• Protein name: Xanthine dehydrogenase/oxidase [Includes: Xanthine dehydrogenase (XD) (EC 1.17.1.4); Xanthine oxidase (XO) (EC 1.17.3.2) (Xanthine oxidoreductase) (XOR)]
• Protein function: Key enzyme in purine degradation. Catalyzes the oxidation of hypoxanthine to xanthine. Catalyzes the oxidation of xanthine to uric acid. Contributes to the generation of reactive oxygen species. Has also low oxidase activity towards aldehydes (i
• PDB: 2CKJ, 2E1Q
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00111	Fer2	8 → 78	2Fe-2S iron-sulfur cluster binding domain	Domain
  PF01799	Fer2_2	87 → 161	[2Fe-2S] binding domain	Domain
  PF00941	FAD_binding_5	228 → 412	FAD binding domain in molybdopterin dehydrogenase	Family
  PF03450	CO_deh_flav_C	419 → 523	CO dehydrogenase flavoprotein C-terminal domain	Domain
  PF01315	Ald_Xan_dh_C	588 → 694	Aldehyde oxidase and xanthine dehydrogenase, a/b hammerhead domain	Domain
  PF02738	Ald_Xan_dh_C2	699 → 1237	Molybdopterin-binding domain of aldehyde dehydrogenase	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in milk (at protein level). {ECO:0000269|Ref.12}.
• Sequence:

  MTADKLVFFVNGRKVVEKNADPETTLLAYLRRKLGLSGTKLGCGEGGCGACTVMLSKYDR
  LQNKIVHFSANACLAPICSLHHVAVTTVEGIGSTKTRLHPVQERIAKSHGSQCGFCTPGI
  VMSMYTLLRNQPEPTMEEIENAFQGNLCRCTGYRPILQGFRTFARDGGCCGGDGNNPNCC
  MNQKKDHSVSLSPSLFKPEEFTPLDPTQEPIFPPELLRLKDTPRKQLRFEGERVTWIQAS
  TLKELLDLKAQHPDAKLVVGNTEIGIEMKFKNMLFPMIVCPAWIPELNSVEHGPDGISFG
  AACPLSIVEKTLVDAVAKLPAQKTEVFRGVLEQLRWFAGKQVKSVASVGGNIITASPISD
  LNPVFMASGAKLTLVSRGTRRTVQMDHTFFPGYRKTLLSPEEILLSIEIPYSREGEYFSA
  FKQASRREDDIAKVTSGMRVLFKPGTTEVQELALCYGGMANRTISALKTTQRQLSKLWKE
  ELLQDVCAGLAEELHLPPDAPGGMVDFRCTLTLSFFFKFYLTVLQKLGQENLEDKCGKLD
  PTFASATLLFQKDPPADVQLFQEVPKGQSEEDMVGRPLPHLAADMQASGEAVYCDDIPRY
  ENELSLRLVTSTRAHAKIKSIDTSEAKKVPGFVCFISADDVPGSNITGICNDETVFAKDK
  VTCVGHIIGAVVADTPEHTQRAAQGVKITYEELPAIITIEDAIKNNSFYGPELKIEKGDL
  KKGFSEADNVVSGEIYIGGQEHFYLETHCTIAVPKGEAGEMELFVSTQNTMKTQSFVAKM
  LGVPANRIVVRVKRMGGGFGGKETRSTVVSTAVALAAYKTGRPVRCMLDRDEDMLITGGR
  HPFLARYKVGFMKTGTVVALEVDHFSNVGNTQDLSQSIMERALFHMDNCYKIPNIRGTGR
  LCKTNLPSNTAFRGFGGPQGMLIAECWMSEVAVTCGMPAEEVRRKNLYKEGDLTHFNQKL
  EGFTLPRCWEECLASSQYHARKSEVDKFNKENCWKKRGLCIIPTKFGISFTVPFLNQAGA
  LLHVYTDGSVLLTHGGTEMGQGLHTKMVQVASRALKIPTSKIYISETSTNTVPNTSPTAA
  SVSADLNGQAVYAACQTILKRLEPYKKKNPSGSWEDWVTAAYMDTVSLSATGFYRTPNLG
  YSFETNSGNPFHYFSYGVACSEVEIDCLTGDHKNLRTDIVMDVGSSLNPAIDIGQVEGAF
  VQGLGLFTLEELHYSPEGSLHTRGPSTYKIPAFGSIPIEFRVSLLRDCPNKKAIYASKAV
  GEPPLFLAASIFFAIKDAIRAARAQHTGNNVKELFRLDSPATPEKIRNACVDKFTTLCVT
  GVPENCKPWSVRV

• Sequence length: 1333

Pathways

KEGG:

Purine metabolism
Caffeine metabolism
Drug metabolism - other enzymes
Metabolic pathways
Nucleotide metabolism
Peroxisome

Reactome:

Purine catabolism
Butyrophilin (BTN) family interactions

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
Hereditary xanthinuria type 1	Pathogenic; Likely pathogenic	rs772878388, rs1021978271, rs1281159761, rs758748687, rs72549367, rs778685046, rs119460972, rs1572530443, rs72549369, rs1463907198, rs748879270, rs2465401546, rs1195394908, rs2465394635, rs1553411468, rs376882470, rs760186813, rs1172253757, rs773456900	RCV001328532 RCV005028165 RCV001535866 RCV003338011 RCV002503437 RCV002484804 RCV000003088 RCV000003089 RCV000003090 RCV003485837 RCV005014758 RCV003989241 RCV004547340 RCV004555442 RCV000609125 RCV002485596 RCV002507228 RCV000786985 RCV001535951	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xanthinuria type II	Likely pathogenic; Pathogenic	rs1021978271, rs2148776171, rs2148755274, rs72549367, rs2147994449, rs764196019, rs1383065231, rs778685046, rs119460972, rs1408237135, rs1463907198, rs2465297906, rs777123723, rs751921838, rs748879270, rs2465444919, rs866837583, rs2465407485, rs772878388, rs376882470, rs760186813, rs1558674294, rs773456900	RCV003071300 RCV001388890 RCV001990585 RCV001894883 RCV001993266 RCV002016721 RCV002043379 RCV001949331 RCV001383575 RCV003053054 RCV003110849 RCV002839504 RCV002944197 RCV001387749 RCV003593200 RCV003591290 RCV003591310 RCV003755982 RCV003756603 RCV000686047 RCV000702611 RCV000691786 RCV000794280	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, GOUTY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAROTID ARTERY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER, MAJOR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERURICEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, CHRONIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSION, SINGLE EPISODE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE REPRODUCTIVE ORGAN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SYSTEM ATROPHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RECURRENT MAJOR DEPRESSIVE EPISODES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOCYTOPENIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xanthinuria	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
XANTHINURIA TYPE I	—	GenCC, Orphanet GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XANTHINURIA, TYPE I	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XANTHINURIA, TYPE II	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XDH-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenine phosphoribosyltransferase deficiency	Adenine Phosphoribosyltransferase Deficiency	BEFREE	29241594		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	22678977		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	GWASCAT_DG	28196072		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	27815397		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	CTD_human_DG	12376462		★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	16935971	Associate	★☆☆☆☆ Found in Text Mining only
Apraxia, Developmental Verbal	Apraxia	BEFREE	29936631		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	11154741, 18712049, 22095983		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	LHGDN	12774669		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	11154741, 18712049, 22095983		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	18712049		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CTD_human_DG	15205966		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	18767115, 21775420, 27494876		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	16935971, 23443115, 25416100	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	CTD_human_DG	12376462		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma of lung	Lung carcinoma	BEFREE	22678977		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35693733	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	22044687		★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	12376462		★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	37415141	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	14694147		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Infarction	Ischemic stroke	Pubtator	38228698	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	19175688	Associate	★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	29916098		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	18712049, 28797123, 30116501		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	LHGDN	18821156		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	19112016		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	34564978	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	19112016		★☆☆☆☆ Found in Text Mining only
Combined molybdoflavoprotein enzyme deficiency	Combined molybdoflavoprotein enzyme deficiency	BEFREE	19544009, 23203137		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	14694147, 25995007, 27865177, 29916098		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	CTD_human_DG	19933411		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Vasospasm	Coronary Artery Vasospasm	BEFREE	29936631		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	26863601		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	19175688	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	19175688	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	31093763		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29133805		★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	Pubtator	19175688	Associate	★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	30516339		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	26239312		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	26239312	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	29414774	Associate	★☆☆☆☆ Found in Text Mining only
Gout	Gout	CTD_human_DG	29071757		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gout	Gout	Pubtator	35154100, 38228698	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Diseases	Heart Diseases	CTD_human_DG	17217956		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Diseases	Heart disease	Pubtator	19175688	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Heart Failure	BEFREE	14694147, 25995007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Heart Failure	CTD_human_DG	19933411		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure, Right-Sided	Heart Failure	CTD_human_DG	19933411		★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	28258276		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	26239312	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	17622935, 18712049, 26239312, 27607461, 29733945, 30576922, 31126092		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	LHGDN	17622935, 18712049		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperuricemia	Hyperuricemia	BEFREE	28258276, 28302963, 28413972, 28445133, 29372470, 29906649, 29916098, 30516339, 30576922, 30936145, 31639647, 31733581		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperuricemia	Hyperuricemia	CTD_human_DG	29071757		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperuricemia	Hyperuricemia	Pubtator	35154100	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoxia	Hypoxia	Pubtator	12637268	Stimulate	★☆☆☆☆ Found in Text Mining only
Infarction, Middle Cerebral Artery	Cerebral Infraction	CTD_human_DG	12374626		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	26863601, 29197117, 29723116		★☆☆☆☆ Found in Text Mining only
Involutional Depression	Involutional Depression	CTD_human_DG	20471444		★☆☆☆☆ Found in Text Mining only
Involutional paraphrenia	Involutional Paraphrenia	CTD_human_DG	20471444		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	26863601, 29723116		★☆☆☆☆ Found in Text Mining only
Ischemic Attack Transient	Transient ischemic attack	Pubtator	38228698	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	14551354, 25970330		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	LHGDN	18712049		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	37415141	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	30355577		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	28797123		★☆☆☆☆ Found in Text Mining only
Left-Sided Heart Failure	Heart Failure	CTD_human_DG	19933411		★☆☆☆☆ Found in Text Mining only
Lesch-Nyhan Syndrome	Lesch-Nyhan Syndrome	BEFREE	30740729		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	26863601		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28945217, 31578733		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	22678977	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	CTD_human_DG	20471444		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18767115, 21775420, 27494876		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22678977		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	22044687		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	31667711		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	19112016, 29551504		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21774633, 22678977, 26687331, 28945217, 30576922, 31116490		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	19112016		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16935971		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	19505917		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	19505917, 20406964	Associate	★☆☆☆☆ Found in Text Mining only
Mesenteric vascular insufficiency	Mesenteric Vascular Insufficiency	BEFREE	29550332		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	25995007, 29643318, 30576922, 31130575		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	29733945, 30576922, 31156347		★☆☆☆☆ Found in Text Mining only
Middle Cerebral Artery Thrombosis	Cerebral Thrombosis	CTD_human_DG	12374626		★☆☆☆☆ Found in Text Mining only
Myocardial Failure	Myocardial Infarction	CTD_human_DG	19933411		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	38228698	Associate	★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19112016, 21775420, 22044687, 22678977, 28945217, 30104401, 31659168		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	BEFREE	14551354, 25970330		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	30927276	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31116490		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	30516339, 31130575		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	22044687		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	22044687		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	32537471	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	22535280		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	31667711		★☆☆☆☆ Found in Text Mining only
Psychosis, Involutional	Psychosis	CTD_human_DG	20471444		★☆☆☆☆ Found in Text Mining only
Pulmonary Thromboembolisms	Pulmonary thromboembolism	CTD_human_DG	2510358		★☆☆☆☆ Found in Text Mining only
Pyelonephritis	Pyelonephritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	28839105		★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	37415141	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	19112016, 29551504		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	16935971		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	16935971	Associate	★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	12376462		★☆☆☆☆ Found in Text Mining only
Xanthinuria	Xanthinuria	BEFREE	12670960, 22981351, 23203137, 7956361		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Xanthinuria	Xanthinuria	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Xanthinuria Type I	Xanthinuria	Pubtator	35491177, 9153281	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xanthinuria type I	Xanthinuria	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xanthinuria, Type I	Xanthinuria	UNIPROT_DG	10844591, 11379872, 14551354, 9153281		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xanthinuria, Type I	Xanthinuria	BEFREE	11379872, 14551354, 22981351, 23203137, 23249873, 9153281		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xanthinuria, Type I	Xanthinuria	GENOMICS_ENGLAND_DG	9153281		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xanthinuria, Type I	Xanthinuria	ORPHANET_DG	9153281		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xanthinuria, Type I	Xanthinuria	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xanthinuria, Type I	Xanthinuria	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xanthinuria, Type II	Xanthinuria	CLINVAR_DG	9153281		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xeroderma pigmentosum, group A	Xeroderma Pigmentosum	BEFREE	8824513		★☆☆☆☆ Found in Text Mining only