DPYD (dihydropyrimidine dehydrogenase)

Gene

• Entrez ID: 1806
• Gene name: Dihydropyrimidine dehydrogenase
• Gene symbol: DPYD
• Synonyms (NCBI Gene): DHP, DHPDHASE, DPD, DYPD
• Chromosome: 1
• Chromosome location: 1p21.3
• Summary: The protein encoded by this gene is a pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. Mutations in this gene result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidi

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1801158	C>T	Benign, conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant, coding sequence variant, missense variant
rs1801265	A>G	Pathogenic, benign, not-provided	Intron variant, missense variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs1801266	G>A	Drug-response, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs1801268	C>A	Drug-response	Genic downstream transcript variant, coding sequence variant, missense variant
rs3918290	C>G,T	Pathogenic, drug-response, uncertain-significance, conflicting-interpretations-of-pathogenicity	Splice donor variant, genic downstream transcript variant
rs55886062	A>C,T	Pathogenic, drug-response, likely-pathogenic	Coding sequence variant, intron variant, missense variant, genic downstream transcript variant
rs59086055	G>A	Uncertain-significance, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs67376798	T>A	Uncertain-significance, drug-response, likely-pathogenic, other	Missense variant, genic downstream transcript variant, coding sequence variant
rs72547602	T>A,G	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs72549303	G>-	Drug-response	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs72549309	ATGA>-	Drug-response, pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs72549310	G>A	Likely-pathogenic	Coding sequence variant, stop gained, intron variant, non coding transcript variant, 5 prime UTR variant
rs75017182	G>C,T	Drug-response	Genic downstream transcript variant, intron variant
rs115232898	T>C	Drug-response, likely-benign, not-provided	Genic downstream transcript variant, downstream transcript variant, missense variant, coding sequence variant
rs141597515	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, non coding transcript variant
rs146170505	C>A	Pathogenic-likely-pathogenic	Stop gained, genic downstream transcript variant, downstream transcript variant, coding sequence variant
rs189768576	G>A	Conflicting-interpretations-of-pathogenicity	Stop gained, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs367619008	T>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs377221676	C>T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs749571474	AT>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs755031341	C>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs764584080	A>-	Likely-pathogenic	Genic downstream transcript variant, intron variant, frameshift variant, coding sequence variant
rs768020954	C>T	Likely-pathogenic	Initiator codon variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs776692894	T>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant, 5 prime UTR variant
rs779948148	->C	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs867460475	C>A,T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant, downstream transcript variant
rs1057516356	C>G	Likely-pathogenic	Splice acceptor variant
rs1057516357	C>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1057516388	C>T	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1057516405	A>T	Likely-pathogenic	Splice donor variant, intron variant
rs1057516615	G>-	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1057516671	C>A	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1057516696	C>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1057516711	A>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1057516713	T>C,G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1057516761	C>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1057516763	C>A	Likely-pathogenic	Splice donor variant
rs1057516968	G>A	Likely-pathogenic	Genic downstream transcript variant, stop gained, intron variant, coding sequence variant
rs1057516997	A>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1057517018	T>-	Likely-pathogenic	Genic downstream transcript variant, intron variant, coding sequence variant, frameshift variant
rs1057517065	A>G,T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1057517126	C>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1057517189	G>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1207177925	GGATTTCT>-	Likely-pathogenic, pathogenic	Non coding transcript variant, intron variant, coding sequence variant, stop gained, 5 prime UTR variant
rs1220608789	G>A	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, downstream transcript variant
rs1300669537	T>C	Pathogenic-likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1553197926	G>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553201443	G>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553201476	CA>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1553247675	C>A	Likely-pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022744	hsa-miR-124-3p	Microarray	18668037
MIRT437994	hsa-miR-27a-3p	Luciferase reporter assay	24401318
MIRT437993	hsa-miR-27b-3p	Luciferase reporter assay	24401318
MIRT437993	hsa-miR-27b-3p	Luciferase reporter assay	24401318
MIRT437994	hsa-miR-27a-3p	Luciferase reporter assay	24401318
MIRT437993	hsa-miR-27b-3p	Luciferase reporter assay	24401318
MIRT437993	hsa-miR-27b-3p	Luciferase reporter assay	24401318
MIRT944925	hsa-miR-1290	CLIP-seq
MIRT944926	hsa-miR-302f	CLIP-seq
MIRT944927	hsa-miR-3179	CLIP-seq
MIRT944928	hsa-miR-3978	CLIP-seq
MIRT944929	hsa-miR-4261	CLIP-seq
MIRT944930	hsa-miR-4450	CLIP-seq
MIRT944931	hsa-miR-4738-3p	CLIP-seq
MIRT944932	hsa-miR-548g	CLIP-seq
MIRT944933	hsa-miR-1228	CLIP-seq
MIRT944934	hsa-miR-329	CLIP-seq
MIRT944935	hsa-miR-342-3p	CLIP-seq
MIRT944936	hsa-miR-362-3p	CLIP-seq
MIRT944937	hsa-miR-377	CLIP-seq
MIRT944938	hsa-miR-4753-3p	CLIP-seq
MIRT944939	hsa-miR-4768-5p	CLIP-seq
MIRT1979723	hsa-miR-4790-3p	CLIP-seq
MIRT2214903	hsa-miR-4633-3p	CLIP-seq
MIRT2214904	hsa-miR-4802-5p	CLIP-seq
MIRT2214905	hsa-miR-579	CLIP-seq
MIRT2214906	hsa-miR-610	CLIP-seq
MIRT944933	hsa-miR-1228	CLIP-seq
MIRT944934	hsa-miR-329	CLIP-seq
MIRT944936	hsa-miR-362-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0002058	Function	Uracil binding	IBA
GO:0005515	Function	Protein binding	IPI	25416956
GO:0005737	Component	Cytoplasm	IDA	1512248
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	9348115
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006145	Process	Purine nucleobase catabolic process	IMP	11988088
GO:0006208	Process	Pyrimidine nucleobase catabolic process	IEA
GO:0006208	Process	Pyrimidine nucleobase catabolic process	IEA
GO:0006208	Process	Pyrimidine nucleobase catabolic process	IMP	11988088
GO:0006208	Process	Pyrimidine nucleobase catabolic process	ISS
GO:0006210	Process	Thymine catabolic process	IBA
GO:0006210	Process	Thymine catabolic process	IDA	10410956
GO:0006212	Process	Uracil catabolic process	IBA
GO:0006212	Process	Uracil catabolic process	IDA	1512248, 18075467
GO:0006214	Process	Thymidine catabolic process	IDA	1512248
GO:0006248	Process	CMP catabolic process	IEA
GO:0006249	Process	DCMP catabolic process	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016627	Function	Oxidoreductase activity, acting on the CH-CH group of donors	IEA
GO:0017113	Function	Dihydropyrimidine dehydrogenase (NADP+) activity	IBA
GO:0017113	Function	Dihydropyrimidine dehydrogenase (NADP+) activity	IDA	1512248, 10410956, 18075467
GO:0017113	Function	Dihydropyrimidine dehydrogenase (NADP+) activity	IEA
GO:0017113	Function	Dihydropyrimidine dehydrogenase (NADP+) activity	IMP	11988088
GO:0017113	Function	Dihydropyrimidine dehydrogenase (NADP+) activity	ISS
GO:0019483	Process	Beta-alanine biosynthetic process	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	1512248
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0046050	Process	UMP catabolic process	IEA
GO:0046079	Process	DUMP catabolic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050660	Function	Flavin adenine dinucleotide binding	ISS
GO:0050661	Function	NADP binding	IBA
GO:0050661	Function	NADP binding	ISS
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IEA

Other IDs

• MIM: 612779
• HGNC: 3012
• e!Ensembl: ENSG00000188641

Protein

• UniProt ID: Q12882
• Protein name: Dihydropyrimidine dehydrogenase [NADP(+)] (DHPDHase) (DPD) (EC 1.3.1.2) (Dihydrothymine dehydrogenase) (Dihydrouracil dehydrogenase)
• Protein function: Involved in pyrimidine base degradation (PubMed:1512248). Catalyzes the reduction of uracil and thymine (PubMed:1512248). Also involved the degradation of the chemotherapeutic drug 5-fluorouracil (PubMed:1512248).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14691	Fer4_20	55 → 168	Dihydroprymidine dehydrogenase domain II, 4Fe-4S cluster	Domain
  PF07992	Pyr_redox_2	187 → 499	Pyridine nucleotide-disulphide oxidoreductase	Domain
  PF01180	DHO_dh	532 → 838	Dihydroorotate dehydrogenase	Domain
  PF14697	Fer4_21	946 → 1004		Domain

• Tissue specificity: TISSUE SPECIFICITY: Found in most tissues with greatest activity found in liver and peripheral blood mononuclear cells.
• Sequence:

  MAPVLSKDSADIESILALNPRTQTHATLCSTSAKKLDKKHWKRNPDKNCFNCEKLENNFD
  DIKHTTLGERGALREAMRCLKCADAPCQKSCPTNLDIKSFITSIANKNYYGAAKMIFSDN
  PLGLTCGMVCPTSDLCVGGCNLYATEEGPINIGGLQQFATEVFKAMSIPQIRNPSLPPPE
  KMSEAYSAKIALFGAGPASISCASFLARLGYSDITIFEKQEYVGGLSTSEIPQFRLPYDV
  VNFEIELMKDLGVKIICGKSLSVNEMTLSTLKEKGYKAAFIGIGLPEPNKDAIFQGLTQD
  QGFYTSKDFLPLVAKGSKAGMCACHSPLPSIRGVVIVLGAGDTAFDCATSALRCGARRVF
  IVFRKGFVNIRAVPEEMELAKEEKCEFLPFLSPRKVIVKGGRIVAMQFVRTEQDETGKWN
  EDEDQMVHLKADVVISAFGSVLSDPKVKEALSPIKFNRWGLPEVDPETMQTSEAWVFAGG
  DVVGLANTTVESVNDGKQASWYIHKYVQSQYGASVSAKPELPLFYTPIDLVDISVEMAGL
  KFINPFGLASATPATSTSMIRRAFEAGWGFALTKTFSLDKDIVTNVSPRIIRGTTSGPMY
  GPGQSSFLNIELISEKTAAYWCQSVTELKADFPDNIVIASIMCSYNKNDWTELAKKSEDS
  GADALELNLSCPHGMGERGMGLACGQDPELVRNICRWVRQAVQIPFFAKLTPNVTDIVSI
  ARAAKEGGANGVTATNTVSGLMGLKSDGTPWPAVGIAKRTTYGGVSGTAIRPIALRAVTS
  IARALPGFPILATGGIDSAESGLQFLHSGASVLQVCSAIQNQDFTVIEDYCTGLKALLYL
  KSIEELQDWDGQSPATVSHQKGKPVPRIAELMDKKLPSFGPYLEQRKKIIAENKIRLKEQ
  NVAFSPLKRNCFIPKRPIPTIKDVIGKALQYLGTFGELSNVEQVVAMIDEEMCINCGKCY
  MTCNDSGYQAIQFDPETHLPTITDTCTGCTLCLSVCPIVDCIKMVSRTTPYEPKRGVPLS
  VNPVC

• Sequence length: 1025

Pathways

KEGG:

Pyrimidine metabolism
beta-Alanine metabolism
Pantothenate and CoA biosynthesis
Drug metabolism - other enzymes
Metabolic pathways

Reactome:

Pyrimidine catabolism

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
5-fluorouracil response	Likely pathogenic	rs755416212	RCV003332223	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dihydropyrimidine dehydrogenase deficiency	Likely pathogenic; Pathogenic	rs568132506, rs769925158, rs1669337684, rs2101026231, rs2102259303, rs778614771, rs2524094344, rs773499329, rs72549310, rs772950053, rs2100972370, rs372307932, rs1057516713, rs2524373926, rs72549304, rs2524374326, rs72549308, rs1355754530, rs1672325016, rs757940841, rs754785410, rs2524094119, rs2524538529, rs1162905063, rs752329473, rs1660305188, rs1650431372, rs2523873242, rs2525218826, rs1252510761, rs2524026345, rs2525245079, rs2523745739, rs928629166, rs2101035489, rs2524347160, rs753296078, rs2524207205, rs2523808126, rs760156122, rs2523608314, rs1290522460, rs1667161380, rs1654652414, rs2525244930, rs1654782224, rs768834079, rs2525218019, rs1437370264, rs867460475, rs754745863, rs771839581, rs2101557799, rs2525218835, rs748974194, rs577302209, rs2524026293, rs766535034, rs2524539576, rs2100972539, rs1570632355, rs1214305633, rs2524392157, rs1382838576, rs2524392830, rs2523871765, rs1435774234, rs1337420489, rs2524206318, rs2524554561, rs2524268975, rs2101558812, rs1165702486, rs2101975422, rs2524206768, rs1558014211, rs2524774440, rs1411354209, rs1057516894, rs1057517230, rs1057516873, rs1057517095, rs1057517327, rs1057517271, rs1057516510, rs1057516828, rs759372918, rs769167857, rs1057517396, rs1057517055, rs1057516710, rs1057516388, rs1057516671, rs764584080, rs1057516968, rs1057517018, rs1057517126, rs1057516615, rs779948148, rs1057516357, rs1057516761, rs1057517189, rs749571474, rs1057516711, rs1057516696, rs1057517065, rs146170505, rs1057516997, rs1057516763, rs1057516356, rs776692894, rs141597515, rs1057516405, rs768020954, rs3918290, rs377221676, rs755031341, rs72549309, rs1207177925, rs1553251907, rs1553197926, rs1300669537, rs1553201443, rs1553212596, rs746991079, rs1553251903, rs1553201476, rs755416212, rs1553247675, rs1346124437, rs1220608789, rs1440380546	RCV001329029 RCV002308674 RCV001335115 RCV001553731 RCV003470927 RCV002302445 RCV002471719 RCV000169225 RCV000169198 RCV003236367 RCV003315140 RCV003331802 RCV003466077 RCV004572972 RCV000393255 RCV003466228 RCV003466229 RCV003466230 RCV003475588 RCV003466231 RCV003466232 RCV003466233 RCV003466234 RCV003466235 RCV003459988 RCV003466236 RCV003459989 RCV003466237 RCV003466238 RCV003466239 RCV003459990 RCV003467837 RCV003467838 RCV003459991 RCV003459992 RCV003467839 RCV003467840 RCV003475590 RCV003459993 RCV003467842 RCV003467843 RCV003467844 RCV003467845 RCV003467846 RCV003467847 RCV003467848 RCV003467849 RCV003475591 RCV003459995 RCV003467850 RCV003467851 RCV003467852 RCV003459997 RCV003467853 RCV003467854 RCV003467855 RCV003467856 RCV003467857 RCV003467858 RCV003459998 RCV003459999 RCV003467860 RCV003467861 RCV004575841 RCV004575842 RCV004575843 RCV004575844 RCV004575846 RCV004575847 RCV004575848 RCV004575849 RCV004575850 RCV004575851 RCV004575852 RCV004575853 RCV004575854 RCV004575855 RCV004575856 RCV000412342 RCV000411760 RCV000409198 RCV000410613 RCV000411332 RCV000412100 RCV000409891 RCV000412243 RCV000409049 RCV000412376 RCV000411299 RCV000411454 RCV000410448 RCV000409426 RCV000410030 RCV000411893 RCV000409394 RCV000412205 RCV000412072 RCV000409377 RCV000409743 RCV000411699 RCV000412433 RCV000411796 RCV000410794 RCV000411600 RCV000411932 RCV000409515 RCV000409929 RCV000409534 RCV000410667 RCV000410066 RCV000410851 RCV000409647 RCV000410763 RCV000409115 RCV000410919 RCV000409638 RCV003123363 RCV003470615 RCV003465287 RCV000589260 RCV000591104 RCV000666149 RCV000674165 RCV000667742 RCV000669120 RCV000665415 RCV000666839 RCV000670707 RCV000675011 RCV000671470 RCV000669906 RCV000779011 RCV000780216 RCV001004162	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DPYD-related disorder	Likely pathogenic; Pathogenic	rs1057516713, rs2524373926, rs1057516968	RCV003391615 RCV003427915 RCV003409565	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fluorouracil response	Pathogenic	rs72547602	RCV000030869	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs779948148	RCV002274021	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
1P21.3 MICRODELETION SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANAL POLYP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANNABIS DEPENDENCE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
capecitabine response - Toxicity	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	drug response	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIHYDROPYRIMIDINURIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
fluorouracil response - Other	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
fluorouracil response - Toxicity	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEAD AND NECK NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hirschsprung disease, susceptibility to, 1	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LANGUAGE DEVELOPMENT DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARGE ARTERY STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUTROPENIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-NEOPLASTIC PERIPHERAL NERVOUS SYSTEM DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	drug response; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEPTIC ULCER DISEASE	—	GWAS catalog	★★☆☆☆ 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
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
tegafur response - Toxicity	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
1p21.3 microdeletion syndrome	1p21.3 microdeletion syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	26846104, 28618970		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	15868929, 19015148, 21062732, 24405586, 26031756, 28835573		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	16969493		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	20387074		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	19015148, 24405586, 25573239		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of rectum	Adenocarcinoma Of Rectum	BEFREE	17688376		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	21679902, 22464102, 23231421, 24939945, 27645889, 28159995, 29687207, 31019172		★☆☆☆☆ Found in Text Mining only
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	Amyloidosis	BEFREE	31019172		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	23991104		★☆☆☆☆ Found in Text Mining only
Anaplastic Oligodendroglioma	Anaplastic Oligodendroglioma	BEFREE	20164239		★☆☆☆☆ Found in Text Mining only
Angina Stable	Angina pectoris	Pubtator	23079156	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	37684281	Associate	★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	28851987		★☆☆☆☆ Found in Text Mining only
Auditory Processing Disorder, Central	Auditory processing disorder	CTD_human_DG	21114665		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	18252227, 23275889	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	18252227, 20844286, 21114665, 22003227		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	CTD_human_DG	18252227, 20844286		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CTD_human_DG	21114665		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	28632202	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	28278081	Associate	★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	Pubtator	28632202	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	14654904, 14702180, 15604991, 15890242, 19596923, 29340111		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	19020767		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	11870510, 18319546, 19104657, 19596923, 28481884, 30746637, 39596349	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cancer of Head	Neoplasm of head	CTD_human_DG	19020767		★☆☆☆☆ Found in Text Mining only
Cancer of Neck	Neck Cancer	CTD_human_DG	19020767		★☆☆☆☆ Found in Text Mining only
Cancer of Urinary Tract	Urinary Tract Cancer	BEFREE	30944635		★☆☆☆☆ Found in Text Mining only
Cancer Pain	Cancer	Pubtator	37014829	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	22998564		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29358721	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	14612954, 15993511, 16685392, 19288006, 28835573		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	36289279	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	36289279	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	11099324, 25066213		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	23231421		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	34780066	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	28540026		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	26846104, 28618970		★☆☆☆☆ Found in Text Mining only
Childhood Ataxia with Central Nervous System Hypomyelinization	Leukoencephalopathy with vanishing white matter	CTD_human_DG	11148247		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	15884115, 22912546	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	10811492, 17699798, 17848752, 20387074		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	12960741, 16012177		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	18652704		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10499634, 10537350, 10811492, 11445849, 12095978, 12841874, 14519634, 15025795, 15060742, 15828025, 15875081, 16251201, 16525674, 16572420, 16866026, 17046731, 17047489, 17060676, 17203168, 17330233, 17417073, 17465211, 17612628, 18225548, 18309485, 18383874, 18443386, 18630501, 18813836, 19020767, 19154585, 19180589, 22593457, 23118106, 24647007, 25167895, 25348620, 25906475, 26281864, 26372896, 26676887, 26722420, 27837635, 29134491, 29372689, 29799355, 29845393, 29906295, 30114658, 30339275, 30519982, 30538568, 31653159, 9472650		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	15222106, 15814641, 17047489, 17611699, 19020767		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	10499634, 10778957, 15875081, 16391809, 16477629, 17699798, 27733154		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	11501504, 12841874, 12870370, 14562021, 15015608, 16251201, 16302736, 16568373, 17094418, 18225548, 18245778, 18360075, 18383874, 18443386, 18630501, 18652704, 18813836, 19154585, 20819423, 23169295, 23781135, 24167597, 24647007, 24817302, 25381393, 25782327, 26676887, 26722420, 27636992, 27733154, 27837635, 28278081, 28637434, 29065426, 29799355, 29906295, 31533552, 32546132, 33035787, 33280607, 33305610, 34612540, 35051860, 36172669, 37114540, 37329861, 38248103, 9472650	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	12576451, 14519634, 14562021, 15069545, 16132996, 16786143, 17203168, 17612628		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	15222106, 15814641, 17047489, 17611699, 19020767		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	15884115, 22912546		★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	28126037		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28477411, 30613400		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28477411, 30613400		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	24601691	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	17956579, 26802570, 30613400		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	30799197		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	30966785		★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	21410976, 21498394, 23079156, 23736036, 24817302, 25381393, 28278081, 34780066	Associate	★☆☆☆☆ Found in Text Mining only
Dihydropyrimidine Dehydrogenase Deficiency	Dihydropyrimidine Dehydrogenase Deficiency	BEFREE	10777676, 10803677, 11555601, 11988088, 12209976, 12360106, 12668826, 12912951, 15377401, 16361556, 16421754, 16556484, 17000684, 17165084, 17241513, 18937829, 19296131, 19795123, 21420945, 22003227, 22339448, 23856855, 26265035, 26716401, 27399164, 28929491, 29045513, 29691939, 29725440, 30226808, 30875351, 3335642, 7832988, 8083224, 8892022		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dihydropyrimidine Dehydrogenase Deficiency	Dihydropyrimidine Dehydrogenase Deficiency	CLINVAR_DG	11988088, 12562666, 15899693, 17121937, 19104657, 21590448, 22353294, 24648345, 25087612, 26804652		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dihydropyrimidine Dehydrogenase Deficiency	Dihydropyrimidine dehydrogenase deficiency	Pubtator	12668826, 18937829, 19296131, 20803296, 24648345, 26804652, 28024938, 28481884, 30898145, 32595208, 32973300, 33361878, 33704179, 34773566, 36430399, 36918744, 36989883, 38060335, 40171786, 8698850, 9723824	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dihydropyrimidine Dehydrogenase Deficiency	Dihydropyrimidine Dehydrogenase Deficiency	UNIPROT_DG	14702039, 16710414, 9266349, 9439663		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dihydropyrimidine Dehydrogenase Deficiency	Dihydropyrimidine Dehydrogenase Deficiency	CTD_human_DG	16151913, 9816193		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dihydropyrimidine Dehydrogenase Deficiency	Dihydropyrimidine dehydrogenase deficiency	Pubtator	20803296, 28024938, 35397172	Inhibit	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dihydropyrimidine Dehydrogenase Deficiency	Dihydropyrimidine Dehydrogenase Deficiency	GENOMICS_ENGLAND_DG	27604308		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dihydropyrimidine Dehydrogenase Deficiency	Dihydropyrimidine Dehydrogenase Deficiency	ORPHANET_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dihydropyrimidine dehydrogenase deficiency	Dihydropyrimidine Dehydrogenase Deficiency	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dihydropyrimidinuria	Dihydropyrimidinuria	CTD_human_DG	16151913, 9816193		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epithelial ovarian cancer	Ovarian cancer	BEFREE	11099324		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	21550686		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	17127229, 21982526, 25750278, 27741011, 30226808		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	17127229, 21982526, 25750278, 27741011, 30226808		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	27741011	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	21999595, 35982095	Associate	★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	30871041		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	22270332		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	16619549	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	GWASCAT_DG	31527586		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal carcinoma	Gastrointestinal carcinoma	BEFREE	17848752		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	30723313, 30746637, 33035787	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	14716816, 16302736, 18652704, 20809970, 23139054, 37101114	Associate	★☆☆☆☆ Found in Text Mining only
Gilbert Disease (disorder)	Gilbert Disease	BEFREE	15858133		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	21420945		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	20204365, 26792652		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	10206306	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Head and Neck Neoplasms	Head And Neck Neoplasms	CTD_human_DG	19020767		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Head Neoplasms	Head Neoplasms	CTD_human_DG	19020767		★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	30723313, 33035787	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic Veno-Occlusive Disease	Hepatic veno-occlusive disease-immunodeficiency syndrome	BEFREE	21999595		★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular degeneration	Pubtator	39809184	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	15837757, 17089033, 18652704		★☆☆☆☆ Found in Text Mining only
Hyalinosis, Systemic	Hyalinosis	BEFREE	28715540		★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	Pubtator	31124962	Associate	★☆☆☆☆ Found in Text Mining only
Hypokalemic periodic paralysis	Hypokalemic Periodic Paralysis	BEFREE	10599760, 7650604, 7897626, 7959693, 7987325, 8004673, 8584443, 9132138, 9196905		★☆☆☆☆ Found in Text Mining only
Hypokalemic periodic paralysis type 1	Hypokalemic Periodic Paralysis	BEFREE	10599760, 9132138		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	39317456	Associate	★☆☆☆☆ Found in Text Mining only
Ileitis	Ileitis	BEFREE	24748142		★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	12885330		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	22003227		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	22143355		★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language Development Disorders	CTD_human_DG	21114665		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	31019172		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	28391028		★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	CTD_human_DG	11148247		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	11156223, 12209976, 18299612, 23942539, 25381393, 27001120, 27248859, 28637434, 30114658		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17699726, 23435877, 23571497, 28693254, 29358721, 30871041		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	18019677		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	15865071	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	36918744	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	16525674		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	15993511		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	19020767		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	28835573	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	29358721	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	34612540	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	LHGDN	17375478		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	CTD_human_DG	19020767		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	20204365, 26792652		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	14654904, 15604991, 15890242, 29340111		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	19020767		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	17127229, 21982526, 25750278, 27741011, 30226808		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	11251164, 14716816, 15890242, 18309485, 20809970, 25112781		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	21210725, 30203236		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	14612954, 15993511, 16685392, 19288006, 25405593, 28835573		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	19020767		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	25066213		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	CTD_human_DG	17443278, 19020767		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	17762760, 18309485, 21210725, 28789372, 29515256, 31778273		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	10697632, 10744051, 10953310, 11029488, 11445849, 12495474, 15316940, 17303323, 18231104, 18309485, 21210725, 23794300, 25112781, 25388847, 28255193		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	15837757, 17089033, 18652704		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10499634, 10777676, 10803677, 10953310, 11267945, 12844478, 12851836, 14612954, 14635116, 14702180, 15868929, 16361556, 16421754, 16556484, 16815558, 17038885, 17241513, 18309485, 19020767, 19288006, 19288105, 19697054, 19822137, 21550686, 23585145, 27248859, 27399164, 28430339, 30348537, 31155283, 31735158, 9470816, 9893619		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant Squamous Cell Neoplasm	Neoplasm	BEFREE	11604993		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	14612954, 17699798, 20387074		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	18652704		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	29372689		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	19020767		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	11895907, 14654904, 18004243, 18347391		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	19020767		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	19020767		★☆☆☆☆ Found in Text Mining only
Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome	BEFREE	19154585		★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	26609109	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	23596069		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	12653413		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	7650604		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★☆☆☆☆ Found in Text Mining only
Neck Neoplasms	Neck Neoplasms	CTD_human_DG	19020767		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10213225, 10537350, 10697632, 10744051, 10778957, 10953310, 11251164, 11555593, 11604993, 12095978, 12360106, 12469154, 12576451, 12616366, 12960741, 12967482, 14519634, 14612954, 14654904, 14702180, 14981911, 15060742, 15330198, 15604991, 16012177, 16132996, 16391809, 16734730, 17047489, 17049588, 17330233, 17377791, 17695527, 17699798, 18676755, 18986760, 19105824, 19180589, 19383847, 19697054, 20837458, 22143355, 22270332, 22306127, 22998564, 23064955, 23232805, 24104963, 24405586, 25112781, 25348620, 27798895, 28789372, 29358721, 31735158		★☆☆☆☆ Found in Text Mining only
Neoplasms, Glandular and Epithelial	Neoplasm	LHGDN	12844478		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	CTD_human_DG	16435204		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
nervous system disorder	Nervous System Disorder	BEFREE	23596069		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia	Neutropenia	BEFREE	11156223, 12209976, 23942539, 25381393, 27248859, 28637434, 30114658		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia	Neutropenia	CTD_human_DG	12562666		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia	Neutropenia	Pubtator	20037211, 21410976, 25381393, 29065426, 30723313, 30858516, 34780066, 39596349	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	15868929, 15949589, 15993511, 20198621, 20837458, 21036757, 24405586, 27268079		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	CTD_human_DG	20882379		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oligodendroglioma	Oligodendroglioma	Pubtator	20164239	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oral Mucositis	Oral Mucositis	BEFREE	25388847, 28278081		★☆☆☆☆ Found in Text Mining only
Oropharyngeal Neoplasms	Oropharyngeal neoplasm	Pubtator	35200545	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	27837635		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	25066213		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	11992400		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	20570913, 25066213	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	17695509, 17762760, 18309485, 28789372, 29515256, 31778273		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	CTD_human_DG	17443278, 19020767		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	15492566, 21487324, 29515256	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancytopenia	Pancytopenia	Pubtator	33305610	Associate	★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	30296429		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	CTD_human_DG	20864405		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Personality Disorders	Personality Disorders	BEFREE	12653413		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	21114665, 22003227		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	29727810, 30529908		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	26846104, 28618970		★☆☆☆☆ Found in Text Mining only
Primary peritoneal carcinoma	Peritoneal Carcinoma	BEFREE	26031756		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic Hyperplasia	LHGDN	15999119		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	15999119		★☆☆☆☆ Found in Text Mining only
Purine-Pyrimidine Metabolism, Inborn Errors	Inborn disorder of purine or pyrimidine metabolism	CTD_human_DG	15571261, 3335642		★☆☆☆☆ Found in Text Mining only
Quadriplegia	Quadriplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	15538739, 16931962, 17688376, 19180589, 22006578, 27127154, 28326100		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory system infectious disease	Pubtator	33035787	Associate	★☆☆☆☆ Found in Text Mining only
Rufous oculocutaneous albinism	Rufous oculocutaneous albinism	Pubtator	18245778, 19104657	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	CTD_human_DG	21822266, 23042115		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	24556472		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	24556472, 28632202	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764, 28540026, 28991256, 29483656, 30285260, 31374203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	12576451, 14562021, 23169295, 24817302, 28278081, 28637434, 30651398		★☆☆☆☆ Found in Text Mining only
Senile cardiac amyloidosis	Senile Cardiac Amyloidosis	BEFREE	22464102, 24939945, 31019172		★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	24700034	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	28092497, 29478200, 30769293		★☆☆☆☆ Found in Text Mining only
Speech Delay	Speech Delay	BEFREE	21114665, 22003227		★☆☆☆☆ Found in Text Mining only
Speech Delay	Speech Delay	CTD_human_DG	21114665		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	11604993, 16757204, 19015148, 26031756, 28927083		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	16969493		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	18197934		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	30803213, 31871216	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	21999595		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	10697632, 10744051, 10953310, 11029488, 11445849, 12495474, 15316940, 17303323, 17848752, 18231104, 18309485, 23794300, 25112781, 25388847, 28255193		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	29906295	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	15069545		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	15330198, 15330204, 15354215, 16302736, 18231104, 20857529, 23794300, 25112781, 25793299, 33361878, 34525956	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	15837757, 17089033, 18652704		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	18652704	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	BEFREE	26475168		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomatitis	Stomatitis	Pubtator	22448752, 23079156, 28278081	Associate	★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	BEFREE	25388847, 28278081, 30114658		★☆☆☆☆ Found in Text Mining only
Thiopurine S methyltranferase deficiency	Thiopurine s-methyltransferase deficiency	Pubtator	32973300	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	25381393	Associate	★☆☆☆☆ Found in Text Mining only
Thymic Carcinoma	Thymic Carcinoma	BEFREE	21550686		★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	12616366		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	24104963		★☆☆☆☆ Found in Text Mining only
Turcot syndrome	Turcot syndrome	Pubtator	24800948	Associate	★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	BEFREE	10697632		★☆☆☆☆ Found in Text Mining only
Upper Aerodigestive Tract Neoplasms	Upper Aerodigestive Tract Neoplasms	CTD_human_DG	19020767		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	25218240, 35595780	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	12967482	Associate	★☆☆☆☆ Found in Text Mining only