ABCC2 (ATP binding cassette subfamily C member 2)

Gene

• Entrez ID: 1244
• Gene name: ATP binding cassette subfamily C member 2
• Gene symbol: ABCC2
• Synonyms (NCBI Gene): ABC30, CMOAT, DJS, MRP2, cMRP
• Chromosome: 10
• Chromosome location: 10q24.2
• Summary: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, M

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs17222547	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, stop gained, 3 prime UTR variant
rs17222674	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs17222716	G>C	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs34937870	G>A,T	Pathogenic	Splice donor variant, genic downstream transcript variant, intron variant
rs56131651	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, non coding transcript variant
rs56199535	C>A,G,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, synonymous variant
rs72558199	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, downstream transcript variant, stop gained
rs72558200	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs72558201	A>G,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs72558202	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs139082536	G>A,C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, 3 prime UTR variant, synonymous variant, non coding transcript variant, coding sequence variant
rs139800035	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs144192700	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs146405172	G>A	Likely-pathogenic	Splice donor variant
rs146575217	C>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, synonymous variant
rs183923599	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, stop gained
rs371866713	C>A,G	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs387906395	T>A,G	Pathogenic	Splice donor variant
rs387906396	T>C	Pathogenic	Splice donor variant
rs559137047	C>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant
rs559908064	C>A,G	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, non coding transcript variant, synonymous variant, coding sequence variant
rs577353173	G>A,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained, non coding transcript variant, missense variant
rs756707816	G>A,C	Pathogenic	Splice acceptor variant
rs761406918	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, stop gained
rs762243203	G>A	Pathogenic	Downstream transcript variant, splice donor variant, genic downstream transcript variant
rs762291612	CC>-	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs762346634	->TC	Pathogenic	Non coding transcript variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant, frameshift variant
rs762914474	TT>-	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs764958537	T>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs765580991	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs769798659	A>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant
rs771652807	->T	Pathogenic	Downstream transcript variant, stop gained, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs772673105	CT>-	Uncertain-significance, pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs773850184	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs774778158	AT>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs775771081	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs776087856	G>A	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs777325157	ACAACAC>-	Pathogenic	Coding sequence variant, downstream transcript variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs777902199	C>G,T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs864309675	TG>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs919078015	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1158274146	CT>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1161530285	G>A	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1208873596	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1257076487	C>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1314486961	->A	Pathogenic	Coding sequence variant, initiator codon variant, frameshift variant, non coding transcript variant
rs1333544687	->T	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1554845888	T>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs1554849397	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1554850241	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs1554851699	->T	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1554853026	TTAA>-	Pathogenic	Downstream transcript variant, intron variant, frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1554854612	->TC	Pathogenic	Downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1564674618	GAGT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1564687941	A>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1564688595	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1564702358	A>T	Pathogenic	Downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant, genic downstream transcript variant
rs1590192032	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT731994	hsa-miR-490-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	28386339
MIRT731994	hsa-miR-490-3p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	28386339
MIRT732840	hsa-miR-379-3p	Luciferase reporter assay, RNA-seq, qRT-PCR	31757862
MIRT734920	hsa-miR-424-3p	Luciferase reporter assay, Western blotting, qRT-PCR	33273826
MIRT758343	hsa-let-7a	CLIP-seq
MIRT758344	hsa-let-7b	CLIP-seq
MIRT758345	hsa-let-7c	CLIP-seq
MIRT758346	hsa-let-7d	CLIP-seq
MIRT758347	hsa-let-7e	CLIP-seq
MIRT758348	hsa-let-7f	CLIP-seq
MIRT758349	hsa-let-7g	CLIP-seq
MIRT758350	hsa-let-7i	CLIP-seq
MIRT758351	hsa-miR-1273d	CLIP-seq
MIRT758352	hsa-miR-1297	CLIP-seq
MIRT758353	hsa-miR-26a	CLIP-seq
MIRT758354	hsa-miR-26b	CLIP-seq
MIRT758355	hsa-miR-3132	CLIP-seq
MIRT758356	hsa-miR-3529	CLIP-seq
MIRT758357	hsa-miR-379	CLIP-seq
MIRT758358	hsa-miR-3927	CLIP-seq
MIRT758359	hsa-miR-4263	CLIP-seq
MIRT758360	hsa-miR-4299	CLIP-seq
MIRT758361	hsa-miR-4458	CLIP-seq
MIRT758362	hsa-miR-4465	CLIP-seq
MIRT758363	hsa-miR-4500	CLIP-seq
MIRT758364	hsa-miR-451b	CLIP-seq
MIRT758365	hsa-miR-4540	CLIP-seq
MIRT758366	hsa-miR-4729	CLIP-seq
MIRT758367	hsa-miR-513c	CLIP-seq
MIRT758368	hsa-miR-514b-5p	CLIP-seq
MIRT758369	hsa-miR-576-5p	CLIP-seq
MIRT758370	hsa-miR-619	CLIP-seq
MIRT758371	hsa-miR-98	CLIP-seq
MIRT758355	hsa-miR-3132	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
IRF3	Activation	15185298

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	17825285, 21988832
GO:0005524	Function	ATP binding	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	7559771
GO:0006805	Process	Xenobiotic metabolic process	IEA
GO:0006805	Process	Xenobiotic metabolic process	TAS
GO:0006855	Process	Xenobiotic transmembrane transport	IMP	18245269
GO:0006869	Process	Lipid transport	IEA
GO:0008514	Function	Organic anion transmembrane transporter activity	TAS	7559771
GO:0008559	Function	ABC-type xenobiotic transporter activity	IBA
GO:0008559	Function	ABC-type xenobiotic transporter activity	IEA
GO:0008559	Function	ABC-type xenobiotic transporter activity	IMP	10220572, 18245269
GO:0008559	Function	ABC-type xenobiotic transporter activity	TAS
GO:0009986	Component	Cell surface	HDA	19581412
GO:0009986	Component	Cell surface	IDA	17825285
GO:0010629	Process	Negative regulation of gene expression	ISS
GO:0015127	Function	Bilirubin transmembrane transporter activity	IMP	10421658
GO:0015127	Function	Bilirubin transmembrane transporter activity	TAS
GO:0015431	Function	ABC-type glutathione S-conjugate transporter activity	IEA
GO:0015431	Function	ABC-type glutathione S-conjugate transporter activity	IMP	10220572
GO:0015721	Process	Bile acid and bile salt transport	IMP	16332456
GO:0015723	Process	Bilirubin transport	IMP	10421658
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IBA
GO:0016324	Component	Apical plasma membrane	IDA	10220572, 11093739, 17825285, 28408210
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0042167	Process	Heme catabolic process	TAS
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IDA	11500505
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	TAS	7559771
GO:0042910	Function	Xenobiotic transmembrane transporter activity	IDA	11500505
GO:0042910	Function	Xenobiotic transmembrane transporter activity	IEA
GO:0043225	Function	ATPase-coupled inorganic anion transmembrane transporter activity	IEA
GO:0043225	Function	ATPase-coupled inorganic anion transmembrane transporter activity	TAS
GO:0046581	Component	Intercellular canaliculus	IEA
GO:0046618	Process	Xenobiotic export from cell	IMP	18245269
GO:0046942	Process	Carboxylic acid transport	IEA
GO:0055085	Process	Transmembrane transport	IBA
GO:0055085	Process	Transmembrane transport	IEA
GO:0055085	Process	Transmembrane transport	TAS
GO:0070633	Process	Transepithelial transport	ISS
GO:0071716	Process	Leukotriene transport	IMP	10220572
GO:0098656	Process	Monoatomic anion transmembrane transport	IEA
GO:0140359	Function	ABC-type transporter activity	IEA
GO:0140359	Function	ABC-type transporter activity	TAS
GO:0150104	Process	Transport across blood-brain barrier	NAS	26590417, 30280653
GO:1990962	Process	Xenobiotic transport across blood-brain barrier	ISS

Other IDs

• MIM: 601107
• HGNC: 53
• e!Ensembl: ENSG00000023839

Protein

• UniProt ID: Q92887
• Protein name: ATP-binding cassette sub-family C member 2 (EC 7.6.2.-) (EC 7.6.2.2) (EC 7.6.2.3) (Canalicular multidrug resistance protein) (Canalicular multispecific organic anion transporter 1) (Multidrug resistance-associated protein 2)
• Protein function: ATP-dependent transporter of the ATP-binding cassette (ABC) family that binds and hydrolyzes ATP to enable active transport of various substrates including many drugs, toxicants and endogenous compound across cell membranes. Transports a wide va
• PDB: 8IZQ, 8IZR, 8JX7, 8JXQ, 8JXU, 8JY4, 8JY5, 9BR2, 9BUK, 9C12, 9C2I
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00664	ABC_membrane	322 → 593	ABC transporter transmembrane region	Family
  PF00005	ABC_tran	654 → 789	ABC transporter	Domain
  PF00664	ABC_membrane	979 → 1251	ABC transporter transmembrane region	Family
  PF00005	ABC_tran	1317 → 1465	ABC transporter	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed by polarized cells in liver, kidney and intestine. The highest expression is found in liver. Expressed in small intestine (PubMed:28408210). {ECO:0000269|PubMed:28408210}.
• Sequence:

  MLEKFCNSTFWNSSFLDSPEADLPLCFEQTVLVWIPLGYLWLLAPWQLLHVYKSRTKRSS
  TTKLYLAKQVFVGFLLILAAIELALVLTEDSGQATVPAVRYTNPSLYLGTWLLVLLIQYS
  RQWCVQKNSWFLSLFWILSILCGTFQFQTLIRTLLQGDNSNLAYSCLFFISYGFQILILI
  FSAFSENNESSNNPSSIASFLSSITYSWYDSIILKGYKRPLTLEDVWEVDEEMKTKTLVS
  KFETHMKRELQKARRALQRRQEKSSQQNSGARLPGLNKNQSQSQDALVLEDVEKKKKKSG
  TKKDVPKSWLMKALFKTFYMVLLKSFLLKLVNDIFTFVSPQLLKLLISFASDRDTYLWIG
  YLCAILLFTAALIQSFCLQCYFQLCFKLGVKVRTAIMASVYKKALTLSNLARKEYTVGET
  VNLMSVDAQKLMDVTNFMHMLWSSVLQIVLSIFFLWRELGPSVLAGVGVMVLVIPINAIL
  STKSKTIQVKNMKNKDKRLKIMNEILSGIKILKYFAWEPSFRDQVQNLRKKELKNLLAFS
  QLQCVVIFVFQLTPVLVSVVTFSVYVLVDSNNILDAQKAFTSITLFNILRFPLSMLPMMI
  SSMLQASVSTERLEKYLGGDDLDTSAIRHDCNFDKAMQFSEASFTWEHDSEATVRDVNLD
  IMAGQLVAVIGPVGSGKSSLISAMLGEMENVHGHITIKGTTAYVPQQSWIQNGTIKDNIL
  FGTEFNEKRYQQVLEACALLPDLEMLPGGDLAEIGEKGINLSGGQKQRISLARATYQNLD
  IYLLDDPLSAVDAHVGKHIFNKVLGPNGLLKGKTRLLVTHSMHFLPQVDEIVVLGNGTIV
  EKGSYSALLAKKGEFAKNLKTFLRHTGPEEEATVHDGSEEEDDDYGLISSVEEIPEDAAS
  ITMRRENSFRRTLSRSSRSNGRHLKSLRNSLKTRNVNSLKEDEELVKGQKLIKKEFIETG
  KVKFSIYLEYLQAIGLFSIFFIILAFVMNSVAFIGSNLWLSAWTSDSKIFNSTDYPASQR
  DMRVGVYGALGLAQGIFVFIAHFWSAFGFVHASNILHKQLLNNILRAPMRFFDTTPTGRI
  VNRFAGDISTVDDTLPQSLRSWITCFLGIISTLVMICMATPVFTIIVIPLGIIYVSVQMF
  YVSTSRQLRRLDSVTRSPIYSHFSETVSGLPVIRAFEHQQRFLKHNEVRIDTNQKCVFSW
  ITSNRWLAIRLELVGNLTVFFSALMMVIYRDTLSGDTVGFVLSNALNITQTLNWLVRMTS
  EIETNIVAVERITEYTKVENEAPWVTDKRPPPDWPSKGKIQFNNYQVRYRPELDLVLRGI
  TCDIGSMEKIGVVGRTGAGKSSLTNCLFRILEAAGGQIIIDGVDIASIGLHDLREKLTII
  PQDPILFSGSLRMNLDPFNNYSDEEIWKALELAHLKSFVASLQLGLSHEVTEAGGNLSIG
  QRQLLCLGRALLRKSKILVLDEATAAVDLETDNLIQTTIQNEFAHCTVITIAHRLHTIMD
  SDKVMVLDNGKIIECGSPEELLQIPGPFYFMAKEAGIENVNSTKF

• Sequence length: 1545

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
ABCC2-related disorder	Likely pathogenic; Pathogenic	rs376398719, rs781481868, rs146405172, rs17222547, rs780765144, rs34937870, rs56199535, rs72558202, rs72558200, rs371866713, rs777438560, rs754267460, rs554976086, rs66898362, rs753329079, rs2493041971, rs2492926991, rs759959471, rs2493041468, rs1242558715, rs72558199, rs777902199, rs762243203, rs1554845888, rs1564687941, rs765570396, rs572224582, rs1054194575, rs373384181	RCV004746452 RCV003399193 RCV003965261 RCV003416080 RCV004747093 RCV003895238 RCV004745150 RCV003407306 RCV003421913 RCV003409423 RCV003402735 RCV003412139 RCV004747320 RCV003909038 RCV003966639 RCV003893457 RCV004723508 RCV003894002 RCV003982281 RCV003911524 RCV003415739 RCV004745492 RCV004745495 RCV003953002 RCV003396303 RCV004745568 RCV004745575 RCV004745581 RCV004745582 RCV003405317	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive inherited pseudoxanthoma elasticum	Likely pathogenic; Pathogenic	rs146405172	RCV000991170	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colon adenocarcinoma	Likely pathogenic	rs781481868	RCV005912590	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dubin-Johnson syndrome	Likely pathogenic; Pathogenic	rs903690171, rs376398719, rs775410341, rs2038788369, rs1351419381, rs2132976682, rs766573679, rs2133124899, rs34937870, rs2492860078, rs864309675, rs56199535, rs387906395, rs200606989, rs72558202, rs387906396, rs72558201, rs72558200, rs762914474, rs371866713, rs2038244158, rs777438560, rs1045996985, rs554976086, rs66898362, rs145715632, rs767754823, rs1366525701, rs533334893, rs759781877, rs772673105, rs72558199, rs775771081, rs777902199, rs762243203, rs577353173, rs761406918, rs771652807, rs765570396, rs773850184, rs1590192032, rs762346634, rs373384181	RCV005038586 RCV001781687 RCV001781703 RCV001785189 RCV001807897 RCV002052178 RCV002052262 RCV002272767 RCV000190561 RCV005034436 RCV000203293 RCV000008923 RCV000008925 RCV000008926 RCV000008927 RCV000008928 RCV000008929 RCV000008930 RCV000853302 RCV005033854 RCV003338150 RCV005036790 RCV004796817 RCV004796825 RCV004796826 RCV004801369 RCV004796849 RCV005356551 RCV003842937 RCV004759327 RCV000342000 RCV000024307 RCV003129872 RCV001809690 RCV004760639 RCV005240299 RCV001784362 RCV005357971 RCV005633658 RCV004720281 RCV001809792 RCV000853304 RCV004702575 RCV005036409	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs781481868	RCV005912591	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE PSEUDOXANTHOMA ELASTICUM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY CIRRHOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIARRHEA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGESTIVE SYSTEM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSENTERY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL SQUAMOUS CELL CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROINTESTINAL DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERBILIRUBINEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERBILIRUBINEMIA, HEREDITARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, BILIARY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ 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
NON-ALCOHOLIC FATTY LIVER DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONALCOHOLIC STEATOHEPATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CHOLANGITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA OF HEAD AND NECK	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STATUS EPILEPTICUS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	12816874, 24552501		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	30674943		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	15070089		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	18439156		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	15070089		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	25793771		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	15688364		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	28393244		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	12816874		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	18381794		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	CTD_human_DG	18381794		★☆☆☆☆ Found in Text Mining only
Alopecia, Male Pattern	Alopecia, Male Pattern	CTD_human_DG	18381794		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	28011392		★☆☆☆☆ Found in Text Mining only
Androgenetic Alopecia	Androgenetic Alopecia	CTD_human_DG	18381794		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	24404132, 25881102	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	25881102		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	25890497, 30629142		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	23897011	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	30655622		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	30655622	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	31697849		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	15864128, 25823784, 26035694		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	15262134		★☆☆☆☆ Found in Text Mining only
Beta ketothiolase deficiency	Beta-ketothiolase deficiency	Pubtator	28583112	Associate	★☆☆☆☆ Found in Text Mining only
Bile duct carcinoma	Bile duct carcinoma	BEFREE	19451719		★☆☆☆☆ Found in Text Mining only
Biliary cirrhosis	Biliary cirrhosis	CTD_human_DG	15542527		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Biliary Cirrhosis, Primary, 1	Biliary cirrhosis	CTD_human_DG	15542527		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	11920626		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	28583112	Associate	★☆☆☆☆ Found in Text Mining only
Brain Injuries Traumatic	Brain injuries	Pubtator	23896815	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15517899, 17639045, 20124171, 29101532, 29949502, 30458661, 31115547, 31739702		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	15517899, 20102361, 20124171, 21986666, 30458661, 34092579, 35461219	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25793771, 27709738	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10361853, 10496535, 18226047		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	12428063	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29138286, 29464551, 33208122, 35363194, 36274106, 36985726, 37369012, 37733713	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	11920626		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22473764, 23381786, 29035832		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	19603017	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	16080518	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	17145840, 18584188, 29660381		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	12816874, 17112803, 23222202, 24404132, 24552501, 27180762		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	15884115, 23480753, 29464551	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	18226047, 19451719, 29464551		★☆☆☆☆ Found in Text Mining only
Cholecystolithiasis	Cholecystolithiasis	BEFREE	26212029		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	BEFREE	26212029		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	CTD_human_DG	10869290, 17681005, 22521610		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholelithiasis	Pubtator	12524417, 18176959, 18395921, 26212029, 31316180	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholestasis	BEFREE	15057744, 15205115, 17210751, 18176959, 18327154, 18395921, 21330447, 26212029, 28051334, 29090346, 29355600, 29563980, 29642532, 29867509, 31202734, 31210195, 31316180, 31377196		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholestasis	GENOMICS_ENGLAND_DG	29499989, 29707407		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis of pregnancy	Cholestasis of pregnancy	BEFREE	17997497, 18176959, 18395921, 19882051, 28924228		★☆☆☆☆ Found in Text Mining only
Cholestasis of pregnancy	Cholestasis of pregnancy	GENOMICS_ENGLAND_DG	29499989, 29707407		★☆☆☆☆ Found in Text Mining only
Cholestasis, Extrahepatic	Cholestasis	BEFREE	11076395		★☆☆☆☆ Found in Text Mining only
Cholestasis, progressive familial intrahepatic 1	Intrahepatic cholestasis	BEFREE	10579978		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	27780379		★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	16788565		★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	16504477		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	31244920		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	16107775	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	18690847		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22201120, 23232902, 25793771, 26109419		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	22294766		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	18981587		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	18981587, 22201120, 25793771, 26295158, 28968471, 30360603, 31278324, 31395900, 34599518	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	22294766		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complex partial seizures	Seizure	CTD_human_DG	16504477		★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	BEFREE	23717663		★☆☆☆☆ Found in Text Mining only
Complex Partial Status Epilepticus	Status Epilepticus	CTD_human_DG	16504477		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	15884115		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	23927520		★☆☆☆☆ Found in Text Mining only
Conjugated hyperbilirubinemia	Conjugated hyperbilirubinemia	BEFREE	10581368, 11076395, 11477083, 12388192, 12884082, 12942343, 16863439, 19881259, 21740521, 23588305, 25380746		★☆☆☆☆ Found in Text Mining only
Conjugated hyperbilirubinemia	Conjugated hyperbilirubinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	21740521		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	10361853, 16080518, 23237922		★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic neutropenia	Pubtator	24404132	Associate	★☆☆☆☆ Found in Text Mining only
De Toni-Debre-Fanconi Syndrome	Fanconi Syndrome	BEFREE	25485598		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	22558111		★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	17534875, 25611302, 40282412	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diarrhea	Diarrhea	Pubtator	25611302	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	28339079		★☆☆☆☆ Found in Text Mining only
Dubin-Johnson syndrome	Dubin-Johnson Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Eosinophilic esophagitis	Eosinophilia	BEFREE	29563980		★☆☆☆☆ Found in Text Mining only
Epilepsies, Partial	Epilepsy	BEFREE	19167193		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	11879359	Stimulate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	19167193, 19415824, 20216337, 21449672, 21799461, 22256867, 22565165, 23506516, 23717663, 24567120, 24624913, 25155934, 25847339, 27610747, 27816260, 27886333, 28837897, 29724294, 30952578, 31354331, 31404235		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	22630058, 23717663, 27886333, 36253887	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	BEFREE	21799461		★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	16504477		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	17127229		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	17127229		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	21206495	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	20193114, 20331629, 21206495	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ethylmalonic encephalopathy	Ethylmalonic Encephalopathy	BEFREE	29563980		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	25485598		★☆☆☆☆ Found in Text Mining only
Fanconi Syndrome	Fanconi Syndrome	BEFREE	25485598		★☆☆☆☆ Found in Text Mining only
Fanconi Syndrome	Fanconi syndrome	Pubtator	25485598	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Alcoholic	Fatty liver, alcoholic	Pubtator	28097795	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	28097795, 29271075, 29341352, 31630405		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	22290738		★☆☆☆☆ Found in Text Mining only
Functional Gastrointestinal Disorders	Functional Gastrointestinal Disorders	CTD_human_DG	18381794		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	23841074		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	23841074	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	CTD_human_DG	18381794		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	24404132	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized seizures	Seizure	CTD_human_DG	16504477		★☆☆☆☆ Found in Text Mining only
Gilbert Disease	Gilbert syndrome	Pubtator	36274106	Associate	★☆☆☆☆ Found in Text Mining only
Gilbert Disease (disorder)	Gilbert Disease	BEFREE	26350512		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	15751272	Associate	★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	39713147	Associate	★☆☆☆☆ Found in Text Mining only
Grand Mal Status Epilepticus	Grand Mal Status Epilepticus	CTD_human_DG	16504477		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	CTD_human_DG	16330681		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure	Heart failure	Pubtator	23927520	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	21918980	Associate	★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	21918980		★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	22166890	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	10427140		★☆☆☆☆ Found in Text Mining only
Hepatocellular Adenoma	Hepatocellular adenoma	BEFREE	30218633		★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular degeneration	Pubtator	33208122, 34117631	Associate	★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	BEFREE	12884082, 17403188, 19122333, 19881259, 28713894, 29453415, 31410205, 9425227, 9748558		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperbilirubinemia	Hyperbilirubinemia	CTD_human_DG	16611851		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperbilirubinemia	Hyperbilirubinemia	Pubtator	29453415, 32183854, 36555809	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercholesterolemia	Hypercholesterolemia	BEFREE	27511381		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	23927520		★☆☆☆☆ Found in Text Mining only
Hypocalcemia	Hypocalcemia	Pubtator	40282412	Associate	★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholestasis	Intrahepatic Cholestasis	LHGDN	17997497		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholestasis	Intrahepatic Cholestasis	BEFREE	28133487		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholestasis of Pregnancy	Intrahepatic cholestasis of pregnancy	Pubtator	18176959, 18395921, 24366234, 28924228, 33546617, 34638773	Associate	★☆☆☆☆ Found in Text Mining only
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	16504477		★☆☆☆☆ Found in Text Mining only
Jaundice, Chronic Idiopathic	Jaundice	BEFREE	10053008, 10464142, 10581368, 11076395, 11093739, 11477083, 12388192, 12395335, 12884082, 12942343, 15565410, 15864128, 15870973, 16549534, 16847695, 16863439, 16952291, 17287630, 17403188, 19881259, 21740521, 23065530, 23429660, 25380746, 28196047, 28713894, 31544333, 8621134, 9425227, 9813153		★☆☆☆☆ Found in Text Mining only
Jaundice, Chronic Idiopathic	Jaundice	UNIPROT_DG	10053008, 10464142, 11093739, 11266082, 11477083, 22290738, 25336012, 9425227		★☆☆☆☆ Found in Text Mining only
Jaundice, Chronic Idiopathic	Jaundice	LHGDN	11477083, 12388192, 12395335, 12942343, 15870973		★☆☆☆☆ Found in Text Mining only
Jaundice, Chronic Idiopathic	Jaundice	CLINVAR_DG	11477083, 21044052, 9185779		★☆☆☆☆ Found in Text Mining only
Jaundice, Chronic Idiopathic	Jaundice	CTD_human_DG	16952291		★☆☆☆☆ Found in Text Mining only
Jaundice, Chronic Idiopathic	Jaundice	GENOMICS_ENGLAND_DG	29499989, 29707407		★☆☆☆☆ Found in Text Mining only
Jaundice, Chronic Idiopathic	Jaundice	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Jaundice, Obstructive	Jaundice	BEFREE	11897625		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	26807589	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	31378931		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	30047127		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	10828037	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10828037, 30674943		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	18294295, 22868256, 23188068, 24404132, 25611302, 27269636		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10427140, 12297834, 12428063, 15780063, 17704753, 19451719, 20204280, 22110214, 25331966, 26292095, 28286534, 28423714, 29464551, 31417632, 31739702, 31804920, 9794919		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	27543206, 29138286	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	27780379		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	23429660	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	23401306, 26212029	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	29559914		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	10081488	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	25331966, 26292095, 28286534, 28423714, 9794919		★☆☆☆☆ Found in Text Mining only
Low phospholipid-associated cholelithiasis	Phospholipid-Associated Cholelithiasis	BEFREE	31544333		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	17606722		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	LHGDN	18799096		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	21918980	Associate	★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	11697834		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15517899, 17639045, 20124171, 29101532, 29949502, 30458661, 31739702		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	17127229		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	30783141		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	16788565		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22473764, 23381786, 29035832		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	15262134, 17145840, 18584188, 29660381		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	19020751		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	26708806		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	27487151		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	11920626		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10427140, 16377077, 18981587, 21206495, 22534871, 22676135, 23069858, 25781341, 28554132, 29282011, 30483395, 31449916, 8797578		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	31244920		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12576456		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	28601971		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	12839578, 15688364		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	12839578	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	28293855, 39213172	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesothelioma	Mesothelioma	BEFREE	11697834, 21159167		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	11697834	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	27915161, 31005848		★☆☆☆☆ Found in Text Mining only
Microvillus inclusion disease	Microvillus inclusion disease	Pubtator	29218485	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	26743341, 28339079, 30079960		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	30079960	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	25060527, 28861326, 30393497		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	18834541		★☆☆☆☆ Found in Text Mining only
Nausea	Nausea	Pubtator	33794950	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10361853, 15688364, 17534875, 17704753, 20204280, 23841074, 27692344, 29896907, 30334909, 30783141, 31500349		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	CTD_human_DG	21064136		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	Pubtator	10081488, 32295184	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	17534875, 18294295, 25611302, 32778670	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	18294295, 22868256, 23188068, 25611302, 27269636		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	LHGDN	18294295		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	25611302	Inhibit	★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	18926681, 31652406		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	CTD_human_DG	29341352		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-Convulsive Status Epilepticus	Nonconvulsive status epilepticus	CTD_human_DG	16504477		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	17534875, 19568750, 20943283, 22473764, 26816351, 27590272, 28442702		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	CTD_human_DG	29341352		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculocerebrorenal Syndrome	Oculocerebrorenal Syndrome	BEFREE	25485598		★☆☆☆☆ Found in Text Mining only
Oral Mucositis	Oral Mucositis	BEFREE	29885788		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	17145840, 18584188		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	29660381		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	15771954, 24124770, 25881102	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	19020751		★☆☆☆☆ Found in Text Mining only
Pancreatic Diseases	Pancreatic Diseases	BEFREE	14707729, 30629142		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	19020751		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	20922799, 31874997	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28806519		★☆☆☆☆ Found in Text Mining only
Pericarditis, Constrictive	Pericarditis	BEFREE	19881259		★☆☆☆☆ Found in Text Mining only
Petit mal status	Petit Mal Status	CTD_human_DG	16504477		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	32748396	Inhibit	★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	24552501		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	12763363, 14568249		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	CTD_human_DG	15542527		★☆☆☆☆ Found in Text Mining only
Primary peritoneal carcinoma	Peritoneal Carcinoma	BEFREE	22112610		★☆☆☆☆ Found in Text Mining only
Progressive intrahepatic cholestasis (disorder)	Intrahepatic Cholestasis	BEFREE	10579978, 19882051		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	26708806		★☆☆☆☆ Found in Text Mining only
Pseudopelade	Pseudopelade	CTD_human_DG	18381794		★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	Pubtator	18936737	Stimulate	★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	BEFREE	21740521		★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	30655622	Associate	★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	16080518, 16788565		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	10361853, 16080518, 16788565, 23237922		★☆☆☆☆ Found in Text Mining only
Renal tubular disorder	Renal Tubular Disorder	BEFREE	24067562		★☆☆☆☆ Found in Text Mining only
Resistance to Insulin-Like Growth Factor I	IGF-I RESISTANCE	BEFREE	29241458		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa Concentric	Retinitis pigmentosa	Pubtator	36253887	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	23897011		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rotor Syndrome	Rotor Syndrome	BEFREE	17403188		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	24024892		★☆☆☆☆ Found in Text Mining only
Secondary Biliary Cholangitis	Biliary Cholangitis	CTD_human_DG	15542527		★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	18981587, 29499902		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	23717663	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Single Seizure	Seizure	CTD_human_DG	16504477		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	10100721, 22473764		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	18214043, 20439344	Associate	★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	BEFREE	15211708		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	LHGDN	15211708		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	21206495		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	CTD_human_DG	21206495		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	25275603	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	24913304, 31174311		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	CTD_human_DG	25275603		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	CTD_human_DG	16504477		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Status Epilepticus, Subclinical	Status Epilepticus	CTD_human_DG	16504477		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	27487151		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27487151, 31852133	Associate	★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	Pubtator	24404132	Associate	★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	BEFREE	29885788		★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	12576448		★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	24404132	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid cancer medullary	Medullary thyroid cancer	Pubtator	16831027	Associate	★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	16504477		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	27527855	Associate	★☆☆☆☆ Found in Text Mining only
Visual seizure	Seizure	CTD_human_DG	16504477		★☆☆☆☆ Found in Text Mining only