KRT8 (keratin 8)

Gene

• Entrez ID: 3856
• Gene name: Keratin 8
• Gene symbol: KRT8
• Synonyms (NCBI Gene): CARD2, CK-8, CK8, CYK8, K2C8, K8, KO
• Chromosome: 12
• Chromosome location: 12q13.13
• Summary: This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. The product of this gene typically dime

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs11554495	C>A	Not-provided, pathogenic, risk-factor	Coding sequence variant, missense variant, non coding transcript variant
rs57749775	A>G,T	Not-provided, risk-factor, pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019995	hsa-miR-375	Microarray	20215506
MIRT030226	hsa-miR-26b-5p	Microarray	19088304
MIRT498607	hsa-miR-4779	PAR-CLIP	24398324
MIRT498606	hsa-miR-3929	PAR-CLIP	24398324
MIRT498605	hsa-miR-4419b	PAR-CLIP	24398324
MIRT498604	hsa-miR-4478	PAR-CLIP	24398324
MIRT498603	hsa-miR-4459	PAR-CLIP	24398324
MIRT498602	hsa-miR-3192-5p	PAR-CLIP	24398324
MIRT498601	hsa-miR-1914-3p	PAR-CLIP	24398324
MIRT498600	hsa-miR-5194	PAR-CLIP	24398324
MIRT498598	hsa-miR-6738-5p	PAR-CLIP	24398324
MIRT498599	hsa-miR-4722-5p	PAR-CLIP	24398324
MIRT498597	hsa-miR-885-3p	PAR-CLIP	24398324
MIRT498596	hsa-miR-4505	PAR-CLIP	24398324
MIRT498595	hsa-miR-5787	PAR-CLIP	24398324
MIRT498594	hsa-miR-7106-5p	PAR-CLIP	24398324
MIRT498593	hsa-miR-149-3p	PAR-CLIP	24398324
MIRT498592	hsa-miR-4728-5p	PAR-CLIP	24398324
MIRT498591	hsa-miR-6785-5p	PAR-CLIP	24398324
MIRT498590	hsa-miR-6883-5p	PAR-CLIP	24398324
MIRT498589	hsa-miR-6799-5p	PAR-CLIP	24398324
MIRT498588	hsa-miR-486-3p	PAR-CLIP	24398324
MIRT498586	hsa-miR-1273h-5p	PAR-CLIP	24398324
MIRT498587	hsa-miR-30b-3p	PAR-CLIP	24398324
MIRT498585	hsa-miR-3689a-3p	PAR-CLIP	24398324
MIRT498584	hsa-miR-3689b-3p	PAR-CLIP	24398324
MIRT498583	hsa-miR-3689c	PAR-CLIP	24398324
MIRT498581	hsa-miR-6779-5p	PAR-CLIP	24398324
MIRT498582	hsa-miR-6780a-5p	PAR-CLIP	24398324
MIRT451670	hsa-miR-329-5p	PAR-CLIP	24398324
MIRT451669	hsa-miR-7162-3p	PAR-CLIP	24398324
MIRT451668	hsa-miR-655-5p	PAR-CLIP	24398324
MIRT451667	hsa-miR-377-5p	PAR-CLIP	24398324
MIRT451666	hsa-miR-6086	PAR-CLIP	24398324
MIRT498580	hsa-miR-7160-5p	PAR-CLIP	24398324
MIRT451665	hsa-miR-3619-3p	PAR-CLIP	24398324
MIRT451664	hsa-miR-4776-5p	PAR-CLIP	24398324
MIRT451663	hsa-miR-4535	PAR-CLIP	24398324
MIRT451662	hsa-miR-7150	PAR-CLIP	24398324
MIRT451661	hsa-miR-4520-2-3p	PAR-CLIP	24398324
MIRT451660	hsa-miR-4529-3p	PAR-CLIP	24398324
MIRT451659	hsa-miR-7850-5p	PAR-CLIP	24398324
MIRT451670	hsa-miR-329-5p	PAR-CLIP	23592263
MIRT451669	hsa-miR-7162-3p	PAR-CLIP	23592263
MIRT451668	hsa-miR-655-5p	PAR-CLIP	23592263
MIRT451667	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT451666	hsa-miR-6086	PAR-CLIP	23592263
MIRT451665	hsa-miR-3619-3p	PAR-CLIP	23592263
MIRT451664	hsa-miR-4776-5p	PAR-CLIP	23592263
MIRT451663	hsa-miR-4535	PAR-CLIP	23592263
MIRT451662	hsa-miR-7150	PAR-CLIP	23592263
MIRT451661	hsa-miR-4520-2-3p	PAR-CLIP	23592263
MIRT451660	hsa-miR-4529-3p	PAR-CLIP	23592263
MIRT451659	hsa-miR-7850-5p	PAR-CLIP	23592263
MIRT736566	hsa-miR-186-5p	Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), qRT-PCR	33061604
MIRT498607	hsa-miR-4779	PAR-CLIP	24398324
MIRT498606	hsa-miR-3929	PAR-CLIP	24398324
MIRT498605	hsa-miR-4419b	PAR-CLIP	24398324
MIRT498604	hsa-miR-4478	PAR-CLIP	24398324
MIRT498603	hsa-miR-4459	PAR-CLIP	24398324
MIRT498602	hsa-miR-3192-5p	PAR-CLIP	24398324
MIRT498601	hsa-miR-1914-3p	PAR-CLIP	24398324
MIRT498600	hsa-miR-5194	PAR-CLIP	24398324
MIRT498598	hsa-miR-6738-5p	PAR-CLIP	24398324
MIRT498599	hsa-miR-4722-5p	PAR-CLIP	24398324
MIRT498597	hsa-miR-885-3p	PAR-CLIP	24398324
MIRT498596	hsa-miR-4505	PAR-CLIP	24398324
MIRT498595	hsa-miR-5787	PAR-CLIP	24398324
MIRT498594	hsa-miR-7106-5p	PAR-CLIP	24398324
MIRT498593	hsa-miR-149-3p	PAR-CLIP	24398324
MIRT498592	hsa-miR-4728-5p	PAR-CLIP	24398324
MIRT498591	hsa-miR-6785-5p	PAR-CLIP	24398324
MIRT498590	hsa-miR-6883-5p	PAR-CLIP	24398324
MIRT498589	hsa-miR-6799-5p	PAR-CLIP	24398324
MIRT498588	hsa-miR-486-3p	PAR-CLIP	24398324
MIRT498586	hsa-miR-1273h-5p	PAR-CLIP	24398324
MIRT498587	hsa-miR-30b-3p	PAR-CLIP	24398324
MIRT498585	hsa-miR-3689a-3p	PAR-CLIP	24398324
MIRT498584	hsa-miR-3689b-3p	PAR-CLIP	24398324
MIRT498583	hsa-miR-3689c	PAR-CLIP	24398324
MIRT498581	hsa-miR-6779-5p	PAR-CLIP	24398324
MIRT498582	hsa-miR-6780a-5p	PAR-CLIP	24398324
MIRT451670	hsa-miR-329-5p	PAR-CLIP	24398324
MIRT451669	hsa-miR-7162-3p	PAR-CLIP	24398324
MIRT451668	hsa-miR-655-5p	PAR-CLIP	24398324
MIRT451667	hsa-miR-377-5p	PAR-CLIP	24398324
MIRT451666	hsa-miR-6086	PAR-CLIP	24398324
MIRT498580	hsa-miR-7160-5p	PAR-CLIP	24398324
MIRT451665	hsa-miR-3619-3p	PAR-CLIP	24398324
MIRT451664	hsa-miR-4776-5p	PAR-CLIP	24398324
MIRT451663	hsa-miR-4535	PAR-CLIP	24398324
MIRT451662	hsa-miR-7150	PAR-CLIP	24398324
MIRT451661	hsa-miR-4520-2-3p	PAR-CLIP	24398324
MIRT451660	hsa-miR-4529-3p	PAR-CLIP	24398324
MIRT451659	hsa-miR-7850-5p	PAR-CLIP	24398324
MIRT451670	hsa-miR-329-5p	PAR-CLIP	23592263
MIRT451669	hsa-miR-7162-3p	PAR-CLIP	23592263
MIRT451668	hsa-miR-655-5p	PAR-CLIP	23592263
MIRT451667	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT451666	hsa-miR-6086	PAR-CLIP	23592263
MIRT451665	hsa-miR-3619-3p	PAR-CLIP	23592263
MIRT451664	hsa-miR-4776-5p	PAR-CLIP	23592263
MIRT451663	hsa-miR-4535	PAR-CLIP	23592263
MIRT451662	hsa-miR-7150	PAR-CLIP	23592263
MIRT451661	hsa-miR-4520-2-3p	PAR-CLIP	23592263
MIRT451660	hsa-miR-4529-3p	PAR-CLIP	23592263
MIRT451659	hsa-miR-7850-5p	PAR-CLIP	23592263
MIRT1101823	hsa-miR-10a	CLIP-seq
MIRT1101824	hsa-miR-10b	CLIP-seq
MIRT1101825	hsa-miR-125a-3p	CLIP-seq
MIRT1101826	hsa-miR-153	CLIP-seq
MIRT1101827	hsa-miR-1587	CLIP-seq
MIRT1101828	hsa-miR-1825	CLIP-seq
MIRT1101829	hsa-miR-1915	CLIP-seq
MIRT1101830	hsa-miR-193a-5p	CLIP-seq
MIRT1101831	hsa-miR-196a	CLIP-seq
MIRT1101832	hsa-miR-196b	CLIP-seq
MIRT1101833	hsa-miR-1976	CLIP-seq
MIRT1101834	hsa-miR-2052	CLIP-seq
MIRT1101835	hsa-miR-219-2-3p	CLIP-seq
MIRT1101836	hsa-miR-2355-5p	CLIP-seq
MIRT1101837	hsa-miR-2964a-3p	CLIP-seq
MIRT1101838	hsa-miR-3135b	CLIP-seq
MIRT1101839	hsa-miR-3155	CLIP-seq
MIRT1101840	hsa-miR-3155b	CLIP-seq
MIRT1101841	hsa-miR-3158-3p	CLIP-seq
MIRT1101842	hsa-miR-3184	CLIP-seq
MIRT1101843	hsa-miR-3192	CLIP-seq
MIRT1101844	hsa-miR-326	CLIP-seq
MIRT1101845	hsa-miR-330-5p	CLIP-seq
MIRT1101846	hsa-miR-3612	CLIP-seq
MIRT1101847	hsa-miR-3613-3p	CLIP-seq
MIRT1101848	hsa-miR-3616-3p	CLIP-seq
MIRT1101849	hsa-miR-3622b-5p	CLIP-seq
MIRT1101850	hsa-miR-3667-3p	CLIP-seq
MIRT1101851	hsa-miR-3674	CLIP-seq
MIRT1101852	hsa-miR-3934	CLIP-seq
MIRT1101853	hsa-miR-423-5p	CLIP-seq
MIRT1101854	hsa-miR-4417	CLIP-seq
MIRT1101855	hsa-miR-4443	CLIP-seq
MIRT1101856	hsa-miR-4446-3p	CLIP-seq
MIRT1101857	hsa-miR-4452	CLIP-seq
MIRT1101858	hsa-miR-4492	CLIP-seq
MIRT1101859	hsa-miR-4498	CLIP-seq
MIRT1101860	hsa-miR-4520b-3p	CLIP-seq
MIRT1101861	hsa-miR-4656	CLIP-seq
MIRT1101862	hsa-miR-4663	CLIP-seq
MIRT1101863	hsa-miR-4667-5p	CLIP-seq
MIRT1101864	hsa-miR-4675	CLIP-seq
MIRT1101865	hsa-miR-4700-5p	CLIP-seq
MIRT1101866	hsa-miR-4721	CLIP-seq
MIRT1101867	hsa-miR-4726-3p	CLIP-seq
MIRT1101868	hsa-miR-4741	CLIP-seq
MIRT1101869	hsa-miR-484	CLIP-seq
MIRT1101870	hsa-miR-541	CLIP-seq
MIRT1101871	hsa-miR-615-5p	CLIP-seq
MIRT1101872	hsa-miR-637	CLIP-seq
MIRT1101873	hsa-miR-650	CLIP-seq
MIRT1101874	hsa-miR-654-5p	CLIP-seq
MIRT1101875	hsa-miR-760	CLIP-seq
MIRT1101876	hsa-miR-762	CLIP-seq
MIRT1101877	hsa-miR-764	CLIP-seq
MIRT1101823	hsa-miR-10a	CLIP-seq
MIRT1101824	hsa-miR-10b	CLIP-seq
MIRT1101825	hsa-miR-125a-3p	CLIP-seq
MIRT1101826	hsa-miR-153	CLIP-seq
MIRT1101827	hsa-miR-1587	CLIP-seq
MIRT1101828	hsa-miR-1825	CLIP-seq
MIRT1101829	hsa-miR-1915	CLIP-seq
MIRT1101830	hsa-miR-193a-5p	CLIP-seq
MIRT1101831	hsa-miR-196a	CLIP-seq
MIRT1101832	hsa-miR-196b	CLIP-seq
MIRT1101833	hsa-miR-1976	CLIP-seq
MIRT1101834	hsa-miR-2052	CLIP-seq
MIRT1101835	hsa-miR-219-2-3p	CLIP-seq
MIRT1101836	hsa-miR-2355-5p	CLIP-seq
MIRT1101837	hsa-miR-2964a-3p	CLIP-seq
MIRT1101838	hsa-miR-3135b	CLIP-seq
MIRT1101839	hsa-miR-3155	CLIP-seq
MIRT1101840	hsa-miR-3155b	CLIP-seq
MIRT1101841	hsa-miR-3158-3p	CLIP-seq
MIRT1101842	hsa-miR-3184	CLIP-seq
MIRT1101843	hsa-miR-3192	CLIP-seq
MIRT1101844	hsa-miR-326	CLIP-seq
MIRT1101845	hsa-miR-330-5p	CLIP-seq
MIRT1101846	hsa-miR-3612	CLIP-seq
MIRT1101847	hsa-miR-3613-3p	CLIP-seq
MIRT1101848	hsa-miR-3616-3p	CLIP-seq
MIRT1101849	hsa-miR-3622b-5p	CLIP-seq
MIRT1101850	hsa-miR-3667-3p	CLIP-seq
MIRT1101851	hsa-miR-3674	CLIP-seq
MIRT1101852	hsa-miR-3934	CLIP-seq
MIRT1101853	hsa-miR-423-5p	CLIP-seq
MIRT1101854	hsa-miR-4417	CLIP-seq
MIRT1101855	hsa-miR-4443	CLIP-seq
MIRT1101856	hsa-miR-4446-3p	CLIP-seq
MIRT1101857	hsa-miR-4452	CLIP-seq
MIRT1101858	hsa-miR-4492	CLIP-seq
MIRT1101859	hsa-miR-4498	CLIP-seq
MIRT1101860	hsa-miR-4520b-3p	CLIP-seq
MIRT1101861	hsa-miR-4656	CLIP-seq
MIRT1101862	hsa-miR-4663	CLIP-seq
MIRT1101863	hsa-miR-4667-5p	CLIP-seq
MIRT1101864	hsa-miR-4675	CLIP-seq
MIRT1101865	hsa-miR-4700-5p	CLIP-seq
MIRT1101866	hsa-miR-4721	CLIP-seq
MIRT1101867	hsa-miR-4726-3p	CLIP-seq
MIRT1101868	hsa-miR-4741	CLIP-seq
MIRT1101869	hsa-miR-484	CLIP-seq
MIRT1101870	hsa-miR-541	CLIP-seq
MIRT1101871	hsa-miR-615-5p	CLIP-seq
MIRT1101872	hsa-miR-637	CLIP-seq
MIRT1101873	hsa-miR-650	CLIP-seq
MIRT1101874	hsa-miR-654-5p	CLIP-seq
MIRT1101875	hsa-miR-760	CLIP-seq
MIRT1101876	hsa-miR-762	CLIP-seq
MIRT1101877	hsa-miR-764	CLIP-seq
MIRT1101823	hsa-miR-10a	CLIP-seq
MIRT1101824	hsa-miR-10b	CLIP-seq
MIRT1101825	hsa-miR-125a-3p	CLIP-seq
MIRT1101826	hsa-miR-153	CLIP-seq
MIRT1101827	hsa-miR-1587	CLIP-seq
MIRT1101828	hsa-miR-1825	CLIP-seq
MIRT1101829	hsa-miR-1915	CLIP-seq
MIRT1101830	hsa-miR-193a-5p	CLIP-seq
MIRT1101831	hsa-miR-196a	CLIP-seq
MIRT1101832	hsa-miR-196b	CLIP-seq
MIRT1101833	hsa-miR-1976	CLIP-seq
MIRT1101834	hsa-miR-2052	CLIP-seq
MIRT1101835	hsa-miR-219-2-3p	CLIP-seq
MIRT1101836	hsa-miR-2355-5p	CLIP-seq
MIRT1101837	hsa-miR-2964a-3p	CLIP-seq
MIRT1101838	hsa-miR-3135b	CLIP-seq
MIRT1101839	hsa-miR-3155	CLIP-seq
MIRT1101840	hsa-miR-3155b	CLIP-seq
MIRT1101841	hsa-miR-3158-3p	CLIP-seq
MIRT1101842	hsa-miR-3184	CLIP-seq
MIRT1101843	hsa-miR-3192	CLIP-seq
MIRT1101844	hsa-miR-326	CLIP-seq
MIRT1101845	hsa-miR-330-5p	CLIP-seq
MIRT1101846	hsa-miR-3612	CLIP-seq
MIRT1101847	hsa-miR-3613-3p	CLIP-seq
MIRT1101848	hsa-miR-3616-3p	CLIP-seq
MIRT1101849	hsa-miR-3622b-5p	CLIP-seq
MIRT1101850	hsa-miR-3667-3p	CLIP-seq
MIRT1101851	hsa-miR-3674	CLIP-seq
MIRT1101852	hsa-miR-3934	CLIP-seq
MIRT1101853	hsa-miR-423-5p	CLIP-seq
MIRT1101854	hsa-miR-4417	CLIP-seq
MIRT1101855	hsa-miR-4443	CLIP-seq
MIRT1101856	hsa-miR-4446-3p	CLIP-seq
MIRT1101857	hsa-miR-4452	CLIP-seq
MIRT1101858	hsa-miR-4492	CLIP-seq
MIRT1101859	hsa-miR-4498	CLIP-seq
MIRT1101860	hsa-miR-4520b-3p	CLIP-seq
MIRT1101861	hsa-miR-4656	CLIP-seq
MIRT1101862	hsa-miR-4663	CLIP-seq
MIRT1101863	hsa-miR-4667-5p	CLIP-seq
MIRT1101864	hsa-miR-4675	CLIP-seq
MIRT1101865	hsa-miR-4700-5p	CLIP-seq
MIRT1101866	hsa-miR-4721	CLIP-seq
MIRT1101867	hsa-miR-4726-3p	CLIP-seq
MIRT1101868	hsa-miR-4741	CLIP-seq
MIRT1101869	hsa-miR-484	CLIP-seq
MIRT1101870	hsa-miR-541	CLIP-seq
MIRT1101871	hsa-miR-615-5p	CLIP-seq
MIRT1101872	hsa-miR-637	CLIP-seq
MIRT1101873	hsa-miR-650	CLIP-seq
MIRT1101874	hsa-miR-654-5p	CLIP-seq
MIRT1101875	hsa-miR-760	CLIP-seq
MIRT1101876	hsa-miR-762	CLIP-seq
MIRT1101877	hsa-miR-764	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	10852826, 10954706, 11684708, 12577067, 14756564, 15671067, 15731013, 15846844, 16608857, 19188445, 20936779, 21149639, 21988832, 22038833, 22458338, 24940650, 25416956, 26769854, 30021884, 31515488, 32296183, 32814053, 36012204
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005737	Component	Cytoplasm	IDA	15846844, 19188445
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005882	Component	Intermediate filament	IDA	10852826
GO:0005882	Component	Intermediate filament	IEA
GO:0005911	Component	Cell-cell junction	IEA
GO:0016327	Component	Apicolateral plasma membrane	IEA
GO:0016363	Component	Nuclear matrix	IEA
GO:0030018	Component	Z disc	IEA
GO:0033209	Process	Tumor necrosis factor-mediated signaling pathway	IEA
GO:0042383	Component	Sarcolemma	IEA
GO:0045095	Component	Keratin filament	IEA
GO:0045095	Component	Keratin filament	IPI	10852826
GO:0045111	Component	Intermediate filament cytoskeleton	IDA
GO:0051707	Process	Response to other organism	IEA
GO:0060706	Process	Cell differentiation involved in embryonic placenta development	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708, 23533145
GO:0071944	Component	Cell periphery	IEA
GO:0097110	Function	Scaffold protein binding	IPI	10852826
GO:0097191	Process	Extrinsic apoptotic signaling pathway	IEA
GO:0097284	Process	Hepatocyte apoptotic process	IEA

Other IDs

• MIM: 148060
• HGNC: 6446
• e!Ensembl: ENSG00000170421

Protein

• UniProt ID: P05787
• Protein name: Keratin, type II cytoskeletal 8 (Cytokeratin-8) (CK-8) (Keratin-8) (K8) (Type-II keratin Kb8)
• Protein function: Together with KRT19, helps to link the contractile apparatus to dystrophin at the costameres of striated muscle.
• PDB: 7K3C, 7K3X, 7K3Y
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16208	Keratin_2_head	6 → 87	Keratin type II head	Family
  PF00038	Filament	90 → 401	Intermediate filament protein	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Observed in muscle fibers accumulating in the costameres of myoplasm at the sarcolemma membrane in structures that contain dystrophin and spectrin. Expressed in gingival mucosa and hard palate of the oral cavity. {ECO:0000269|PubMed:10
• Sequence:

  MSIRVTQKSYKVSTSGPRAFSSRSYTSGPGSRISSSSFSRVGSSNFRGGLGGGYGGASGM
  GGITAVTVNQSLLSPLVLEVDPNIQAVRTQEKEQIKTLNNKFASFIDKVRFLEQQNKMLE
  TKWSLLQQQKTARSNMDNMFESYINNLRRQLETLGQEKLKLEAELGNMQGLVEDFKNKYE
  DEINKRTEMENEFVLIKKDVDEAYMNKVELESRLEGLTDEINFLRQLYEEEIRELQSQIS
  DTSVVLSMDNSRSLDMDSIIAEVKAQYEDIANRSRAEAESMYQIKYEELQSLAGKHGDDL
  RRTKTEISEMNRNISRLQAEIEGLKGQRASLEAAIADAEQRGELAIKDANAKLSELEAAL
  QRAKQDMARQLREYQELMNVKLALDIEIATYRKLLEGEESRLESGMQNMSIHTKTTSGYA
  GGLSSAYGGLTSPGLSYSLGSSFGSGAGSSSFSRTSSSRAVVVKKIETRDGKLVSESSDV
  LPK

• Sequence length: 483

Pathways

Reactome:

Keratinization
Formation of the cornified envelope

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cirrhosis, cryptogenic	Benign; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CIRRHOSIS, FAMILIAL	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL SICK SINUS SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatitis C virus, susceptibility to	Benign; not provided; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory bowel disease	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KRT8-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER FAILURE, ACUTE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC DUCTAL ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SICK SINUS SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	LHGDN	11923318		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	CTD_human_DG	15378696		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30634629		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Basal Cell	Adenocarcinoma	CTD_human_DG	15378696		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Oxyphilic	Adenocarcinoma	CTD_human_DG	15378696		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Tubular	Adenocarcinoma	CTD_human_DG	15378696		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	28045574		★☆☆☆☆ Found in Text Mining only
Alexander Disease	Alexander Disease	BEFREE	24003221		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	Pubtator	12013821	Associate	★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	26266975		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	29443941		★☆☆☆☆ Found in Text Mining only
Angiomyolipoma of kidney	Angiomyolipoma Of Kidney	BEFREE	16192644		★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	LHGDN	15838910		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	35328735	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18725232, 18822384, 23128437, 28863181, 29349710, 29796187, 30732163, 31171079, 7542667, 9413178		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	20061804		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	27197191		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	14556659, 17605300, 19050795, 19845941, 21425134, 24489661, 25724181, 26769854, 29884220, 30732163, 8946143, 9786916	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cancer Pain	Cancer	Pubtator	21425134	Associate	★☆☆☆☆ Found in Text Mining only
Cap Myopathy	Cap myopathy	Pubtator	26090004	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	21960693	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	28176443, 8572644		★☆☆☆☆ Found in Text Mining only
Carcinoma Embryonal	Embryonal carcinoma	Pubtator	17993720	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	12717831, 18932288, 24914343, 30588199	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	31201352	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	12367790, 14568682, 26876307, 8615594		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	16415791	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	1372155	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	16412231, 1717607, 19755983, 29427328, 7504888	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Cribriform	Carcinoma	CTD_human_DG	15378696		★☆☆☆☆ Found in Text Mining only
Carcinoma, Granular Cell	Carcinoma	CTD_human_DG	15378696		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholecystolithiasis	Pubtator	22246910	Associate	★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	BEFREE	31767864		★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	38282590	Associate	★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	1692965		★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CTD_human_DG	15108329		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	12724528, 15726665		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cirrhosis Cryptogenic	Cirrhosis	Pubtator	12724528	Associate	★☆☆☆☆ Found in Text Mining only
Cirrhosis, Cryptogenic	Cirrhosis	BEFREE	12724528		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cirrhosis, Cryptogenic	Cirrhosis	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cirrhosis, Familial	Cirrhosis	UNIPROT_DG	12724528		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cirrhosis, Familial	Cirrhosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colitis	Colitis	BEFREE	15248378, 27234655, 29228570		★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	CTD_human_DG	15108329		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	9223323		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27234655, 29228570, 30453567		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21219647, 24762493	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	15108329		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29100303, 29152114		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	30811493		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	30811493		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	30811493		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	15090596		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	21548936, 26769674, 27870250		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	21548936	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29719117		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	28403359	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29719117		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	23801880		★☆☆☆☆ Found in Text Mining only
Diarrhea 5 With Tufting Enteropathy Congenital	Congenital diarrhea	Pubtator	38172172	Stimulate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	LHGDN	18343496		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	LHGDN	17954264		★☆☆☆☆ Found in Text Mining only
End Stage Liver Disease	End Stage Liver Disease	BEFREE	17509943		★☆☆☆☆ Found in Text Mining only
Endometrioid carcinoma ovary	Ovarian endometrioid carcinoma	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	19755983	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Varices	Esophageal varix	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency	BEFREE	17039343		★☆☆☆☆ Found in Text Mining only
Fatty Liver Alcoholic	Fatty liver, alcoholic	Pubtator	35637421	Associate	★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	CTD_human_DG	20538000		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	34899682	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis Autoimmune	Autoimmune hepatitis	Pubtator	11529922	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	19129556	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	24115814	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	11529922	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	15378696		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis Epidermolytic	Epidermolytic hyperkeratosis	Pubtator	11788583	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	25893345		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	10193397		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	10193397	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	15090596, 15248378, 16575832, 17509943, 24915158		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	LHGDN	15090596		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	24915158	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	28652657	Associate	★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	28666985		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	23801880, 25893345		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	23801880, 24166186	Inhibit	★☆☆☆☆ Found in Text Mining only
Intervertebral disc disorder	Intervertebral Disc Disorder	BEFREE	23801880		★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	17954264		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	17509943, 29179184		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	18932288, 23078008, 24115814, 30439626		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	12724528, 15726665, 16911694, 23078008		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis	Liver Cirrhosis	LHGDN	16911694		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis	Liver Cirrhosis	CTD_human_DG	20538000		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Diseases	Liver disease	Pubtator	11372009, 12724528, 32927888	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	LHGDN	12474161		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	20538000	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure Acute	Liver failure	Pubtator	20538000, 26286715	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	20538000, 26286715		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Failure, Acute	Liver failure	CTD_human_DG	20538000		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver neoplasms	Liver neoplasms	CTD_human_DG	19409407, 19796649		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver neoplasms	Liver neoplasms	BEFREE	24115814		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	LHGDN	14568682, 18497550		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26876307	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	26277397		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25724181	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	30256907		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	28045574	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18725232, 18822384, 23128437, 28863181, 29796187, 30732163, 31171079, 9413178		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	20061804		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	CTD_human_DG	19409407, 19796649		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	12367790, 14568682, 26876307, 8615594		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	17039343		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	12949937, 21960693, 30915272		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	15378696		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	27865045		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	14568682, 15319370, 18822384, 21960693, 23677639, 26074449, 27991692, 30472806		★☆☆☆☆ Found in Text Mining only
Malignant Squamous Cell Neoplasm	Neoplasm	BEFREE	26124342		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	9223323		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	20061804		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	14556659, 18725232		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	18725232, 20530580		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	20061804		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	20061804		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	1378696	Associate	★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	31201352		★☆☆☆☆ Found in Text Mining only
Micronodular cirrhosis	Micronodular cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya disease	Pubtator	40624255	Associate	★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	Pubtator	12707036	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	20124091	Associate	★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	26769854	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12367790, 18822384, 25502877, 26124342, 27865045, 27868214, 29100303, 29401296, 8615594, 9701399		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	28652657		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	12367790, 14568682		★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	BEFREE	31720992		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	26769674		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	7678716, 9266754	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Paget Disease	Paget disease	BEFREE	31720992		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	17039343		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	17039343		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	1372155, 17039343, 21811100, 22335271, 33691026, 36522691	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	17039343		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	LHGDN	17039343		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	17039343, 36671463	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis Chronic	Pancreatitis	Pubtator	17039343	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	12868678, 16327287, 17039343		★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	CTD_human_DG	15108329		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12949937, 21960693, 30915272		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate carcinoma	Prostate cancer	GWASCAT_DG	27197191		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	26090004	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	BEFREE	24492704		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21960693, 29260398, 31328168, 32343676, 34973338, 37463569	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	10193397	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	15108329		★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	28045574	Associate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	18236071		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	LHGDN	18236071		★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid Tumor	BEFREE	11850543		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	26277397		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	1704194	Associate	★☆☆☆☆ Found in Text Mining only
Sarcomatoid Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	15108329		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	BEFREE	23801880		★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	33580673	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin Diseases	Skin disease	Pubtator	29427328	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	15319370		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	12367790, 14568682		★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 11 autosomal recessive	Spastic paraplegia	Pubtator	1689541	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	16412231, 26124342, 28176443		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	16412231	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	GWASCAT_DG	27197191		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	30634629		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	28176443		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	21705376, 26124342		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	30439626		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	27865045		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	15378696		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	16101125	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	27865045	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	10765100		★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	29443941	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	35546566	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	11159947		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	25068292, 29884220	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	15090596		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	15623485, 1690513	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	1379783	Associate	★☆☆☆☆ Found in Text Mining only
Vitreoretinopathy Proliferative	Vitreoretinopathy	Pubtator	32022439	Associate	★☆☆☆☆ Found in Text Mining only
Wieacker syndrome	Wieacker syndrome	Pubtator	27070589	Associate	★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	35578692	Associate	★☆☆☆☆ Found in Text Mining only