GREM1 (gremlin 1, DAN family BMP antagonist)

Gene

• Entrez ID: 26585
• Gene name: Gremlin 1, DAN family BMP antagonist
• Gene symbol: GREM1
• Synonyms (NCBI Gene): C15DUPq, CKTSF1B1, CRAC1, CRCS4, DAND2, DRM, DUP15q, GREMLIN, HMPS, HMPS1, IHG-2, MPSH, PIG2
• Chromosome: 15
• Chromosome location: 15q13.3
• Summary: This gene encodes a member of the BMP (bone morphogenic protein) antagonist family. Like BMPs, BMP antagonists contain cystine knots and typically form homo- and heterodimers. The CAN (cerberus and dan) subfamily of BMP antagonists, to which this gene bel

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022737	hsa-miR-124-3p	Microarray	18668037
MIRT617207	hsa-miR-8485	HITS-CLIP	23824327
MIRT617206	hsa-miR-603	HITS-CLIP	23824327
MIRT617205	hsa-miR-300	HITS-CLIP	23824327
MIRT617204	hsa-miR-381-3p	HITS-CLIP	23824327
MIRT617203	hsa-miR-4666a-3p	HITS-CLIP	23824327
MIRT617202	hsa-miR-511-3p	HITS-CLIP	23824327
MIRT617201	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT617200	hsa-let-7a-3p	HITS-CLIP	23824327
MIRT617199	hsa-let-7b-3p	HITS-CLIP	23824327
MIRT617198	hsa-let-7f-1-3p	HITS-CLIP	23824327
MIRT617197	hsa-miR-98-3p	HITS-CLIP	23824327
MIRT444030	hsa-miR-100-3p	HITS-CLIP	23824327
MIRT444029	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT444027	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT444026	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT444030	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT444029	hsa-miR-4778-3p	PAR-CLIP	22100165
MIRT444028	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT444027	hsa-miR-4659a-3p	PAR-CLIP	22100165
MIRT444026	hsa-miR-4659b-3p	PAR-CLIP	22100165
MIRT734354	hsa-miR-3679-5p	Luciferase reporter assay	32597574
MIRT734355	hsa-miR-6515-5p	Luciferase reporter assay	32597574
MIRT734356	hsa-miR-6747-5p	Luciferase reporter assay	32597574
MIRT735827	hsa-miR-182-5p	Luciferase reporter assay, qRT-PCR	33962391
MIRT735828	hsa-miR-212-5p	Luciferase reporter assay, qRT-PCR	33962391
MIRT735829	hsa-miR-221-5p	Luciferase reporter assay, qRT-PCR	33962391
MIRT735830	hsa-miR-3128	Luciferase reporter assay, qRT-PCR	33962391
MIRT736091	hsa-miR-4793-3p	Luciferase reporter assay, Western blotting, qRT-PCR	33335583
MIRT617207	hsa-miR-8485	HITS-CLIP	23824327
MIRT617206	hsa-miR-603	HITS-CLIP	23824327
MIRT617205	hsa-miR-300	HITS-CLIP	23824327
MIRT617204	hsa-miR-381-3p	HITS-CLIP	23824327
MIRT617203	hsa-miR-4666a-3p	HITS-CLIP	23824327
MIRT617202	hsa-miR-511-3p	HITS-CLIP	23824327
MIRT617201	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT617200	hsa-let-7a-3p	HITS-CLIP	23824327
MIRT617199	hsa-let-7b-3p	HITS-CLIP	23824327
MIRT617198	hsa-let-7f-1-3p	HITS-CLIP	23824327
MIRT617197	hsa-miR-98-3p	HITS-CLIP	23824327
MIRT444030	hsa-miR-100-3p	HITS-CLIP	23824327
MIRT444029	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT444027	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT444026	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT444030	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT444029	hsa-miR-4778-3p	PAR-CLIP	22100165
MIRT444028	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT444027	hsa-miR-4659a-3p	PAR-CLIP	22100165
MIRT444026	hsa-miR-4659b-3p	PAR-CLIP	22100165
MIRT1033735	hsa-miR-4330	CLIP-seq
MIRT1033736	hsa-miR-4711-5p	CLIP-seq
MIRT1033737	hsa-miR-548u	CLIP-seq
MIRT1033738	hsa-miR-2909	CLIP-seq
MIRT1033739	hsa-miR-3140-3p	CLIP-seq
MIRT1033740	hsa-miR-340	CLIP-seq
MIRT1033741	hsa-miR-4652-3p	CLIP-seq
MIRT1033742	hsa-miR-4775	CLIP-seq
MIRT1033743	hsa-miR-651	CLIP-seq
MIRT2006582	hsa-miR-1	CLIP-seq
MIRT2006583	hsa-miR-1224-5p	CLIP-seq
MIRT2006584	hsa-miR-206	CLIP-seq
MIRT2006585	hsa-miR-3915	CLIP-seq
MIRT2006586	hsa-miR-3928	CLIP-seq
MIRT2006587	hsa-miR-4446-5p	CLIP-seq
MIRT2006588	hsa-miR-4689	CLIP-seq
MIRT2006589	hsa-miR-4691-5p	CLIP-seq
MIRT2006590	hsa-miR-4755-5p	CLIP-seq
MIRT2006591	hsa-miR-526b	CLIP-seq
MIRT2006592	hsa-miR-613	CLIP-seq
MIRT2238999	hsa-miR-4427	CLIP-seq
MIRT2239000	hsa-miR-7	CLIP-seq
MIRT2450735	hsa-miR-103a	CLIP-seq
MIRT2450736	hsa-miR-107	CLIP-seq
MIRT2450737	hsa-miR-1224-3p	CLIP-seq
MIRT2450738	hsa-miR-1260	CLIP-seq
MIRT2450739	hsa-miR-1260b	CLIP-seq
MIRT2450740	hsa-miR-1280	CLIP-seq
MIRT2450741	hsa-miR-150	CLIP-seq
MIRT2450742	hsa-miR-204	CLIP-seq
MIRT2450743	hsa-miR-211	CLIP-seq
MIRT2450744	hsa-miR-3124-3p	CLIP-seq
MIRT2450745	hsa-miR-4257	CLIP-seq
MIRT2006587	hsa-miR-4446-5p	CLIP-seq
MIRT2450746	hsa-miR-4480	CLIP-seq
MIRT2450747	hsa-miR-4713-5p	CLIP-seq
MIRT2450748	hsa-miR-4717-5p	CLIP-seq
MIRT2006590	hsa-miR-4755-5p	CLIP-seq
MIRT2450749	hsa-miR-4768-5p	CLIP-seq
MIRT2450750	hsa-miR-532-3p	CLIP-seq
MIRT2450751	hsa-miR-623	CLIP-seq
MIRT2450752	hsa-miR-942	CLIP-seq
MIRT2542915	hsa-miR-101	CLIP-seq
MIRT2542916	hsa-miR-1184	CLIP-seq
MIRT2542917	hsa-miR-1205	CLIP-seq
MIRT2542918	hsa-miR-1207-3p	CLIP-seq
MIRT2542919	hsa-miR-1236	CLIP-seq
MIRT2542920	hsa-miR-1253	CLIP-seq
MIRT2542921	hsa-miR-1256	CLIP-seq
MIRT2542922	hsa-miR-1265	CLIP-seq
MIRT2542923	hsa-miR-1271	CLIP-seq
MIRT2542924	hsa-miR-1279	CLIP-seq
MIRT2542925	hsa-miR-1282	CLIP-seq
MIRT2542926	hsa-miR-1298	CLIP-seq
MIRT2542927	hsa-miR-139-5p	CLIP-seq
MIRT2542928	hsa-miR-144	CLIP-seq
MIRT2542929	hsa-miR-155	CLIP-seq
MIRT2542930	hsa-miR-181a	CLIP-seq
MIRT2542931	hsa-miR-181b	CLIP-seq
MIRT2542932	hsa-miR-181c	CLIP-seq
MIRT2542933	hsa-miR-181d	CLIP-seq
MIRT2542934	hsa-miR-182	CLIP-seq
MIRT2542935	hsa-miR-216a	CLIP-seq
MIRT2542936	hsa-miR-3117-3p	CLIP-seq
MIRT2542937	hsa-miR-3127-5p	CLIP-seq
MIRT2542938	hsa-miR-3149	CLIP-seq
MIRT2542939	hsa-miR-3158-5p	CLIP-seq
MIRT2542940	hsa-miR-3163	CLIP-seq
MIRT2542941	hsa-miR-3169	CLIP-seq
MIRT2542942	hsa-miR-3177-5p	CLIP-seq
MIRT2542943	hsa-miR-331-3p	CLIP-seq
MIRT2542944	hsa-miR-331-5p	CLIP-seq
MIRT1033740	hsa-miR-340	CLIP-seq
MIRT2542945	hsa-miR-3613-3p	CLIP-seq
MIRT2542946	hsa-miR-3617	CLIP-seq
MIRT2542947	hsa-miR-365	CLIP-seq
MIRT2542948	hsa-miR-3664-3p	CLIP-seq
MIRT2542949	hsa-miR-3667-5p	CLIP-seq
MIRT2542950	hsa-miR-3675-3p	CLIP-seq
MIRT2542951	hsa-miR-3679-3p	CLIP-seq
MIRT2542952	hsa-miR-376c	CLIP-seq
MIRT2542953	hsa-miR-381	CLIP-seq
MIRT2542954	hsa-miR-3929	CLIP-seq
MIRT2542955	hsa-miR-4251	CLIP-seq
MIRT2450745	hsa-miR-4257	CLIP-seq
MIRT2542956	hsa-miR-4262	CLIP-seq
MIRT2542957	hsa-miR-4266	CLIP-seq
MIRT2542958	hsa-miR-4270	CLIP-seq
MIRT2542959	hsa-miR-4279	CLIP-seq
MIRT2542960	hsa-miR-4282	CLIP-seq
MIRT2542961	hsa-miR-4419b	CLIP-seq
MIRT2542962	hsa-miR-4432	CLIP-seq
MIRT2542963	hsa-miR-4436b-5p	CLIP-seq
MIRT2542964	hsa-miR-4441	CLIP-seq
MIRT2542965	hsa-miR-4478	CLIP-seq
MIRT2450746	hsa-miR-4480	CLIP-seq
MIRT2542966	hsa-miR-4528	CLIP-seq
MIRT2542967	hsa-miR-4642	CLIP-seq
MIRT1033741	hsa-miR-4652-3p	CLIP-seq
MIRT2542968	hsa-miR-4678	CLIP-seq
MIRT2542969	hsa-miR-4686	CLIP-seq
MIRT2542970	hsa-miR-4694-5p	CLIP-seq
MIRT2542971	hsa-miR-4695-5p	CLIP-seq
MIRT2542972	hsa-miR-4709-3p	CLIP-seq
MIRT2542973	hsa-miR-4719	CLIP-seq
MIRT2542974	hsa-miR-4732-3p	CLIP-seq
MIRT2542975	hsa-miR-4759	CLIP-seq
MIRT2542976	hsa-miR-4760-3p	CLIP-seq
MIRT2542977	hsa-miR-4760-5p	CLIP-seq
MIRT2542978	hsa-miR-4764-5p	CLIP-seq
MIRT2542979	hsa-miR-4779	CLIP-seq
MIRT2542980	hsa-miR-485-5p	CLIP-seq
MIRT2542981	hsa-miR-495	CLIP-seq
MIRT2542982	hsa-miR-496	CLIP-seq
MIRT2542983	hsa-miR-499-3p	CLIP-seq
MIRT2542984	hsa-miR-499a-3p	CLIP-seq
MIRT2542985	hsa-miR-499a-5p	CLIP-seq
MIRT2542986	hsa-miR-510	CLIP-seq
MIRT2542987	hsa-miR-513c	CLIP-seq
MIRT2542988	hsa-miR-514b-5p	CLIP-seq
MIRT2542989	hsa-miR-520g	CLIP-seq
MIRT2542990	hsa-miR-520h	CLIP-seq
MIRT2542991	hsa-miR-543	CLIP-seq
MIRT1033737	hsa-miR-548u	CLIP-seq
MIRT2542992	hsa-miR-568	CLIP-seq
MIRT2542993	hsa-miR-577	CLIP-seq
MIRT2542994	hsa-miR-579	CLIP-seq
MIRT2542995	hsa-miR-587	CLIP-seq
MIRT2542996	hsa-miR-600	CLIP-seq
MIRT2542997	hsa-miR-617	CLIP-seq
MIRT2542998	hsa-miR-624	CLIP-seq
MIRT2542999	hsa-miR-633	CLIP-seq
MIRT2543000	hsa-miR-641	CLIP-seq
MIRT2543001	hsa-miR-664	CLIP-seq
MIRT2543002	hsa-miR-665	CLIP-seq
MIRT2239000	hsa-miR-7	CLIP-seq
MIRT2543003	hsa-miR-802	CLIP-seq
MIRT2543004	hsa-miR-873	CLIP-seq
MIRT2543005	hsa-miR-96	CLIP-seq
MIRT2542915	hsa-miR-101	CLIP-seq
MIRT2542916	hsa-miR-1184	CLIP-seq
MIRT2542917	hsa-miR-1205	CLIP-seq
MIRT2542918	hsa-miR-1207-3p	CLIP-seq
MIRT2542920	hsa-miR-1253	CLIP-seq
MIRT2542922	hsa-miR-1265	CLIP-seq
MIRT2542927	hsa-miR-139-5p	CLIP-seq
MIRT2542928	hsa-miR-144	CLIP-seq
MIRT2542935	hsa-miR-216a	CLIP-seq
MIRT2542936	hsa-miR-3117-3p	CLIP-seq
MIRT2542939	hsa-miR-3158-5p	CLIP-seq
MIRT2542941	hsa-miR-3169	CLIP-seq
MIRT1033740	hsa-miR-340	CLIP-seq
MIRT2542945	hsa-miR-3613-3p	CLIP-seq
MIRT2542946	hsa-miR-3617	CLIP-seq
MIRT2542948	hsa-miR-3664-3p	CLIP-seq
MIRT2542952	hsa-miR-376c	CLIP-seq
MIRT2542954	hsa-miR-3929	CLIP-seq
MIRT2542955	hsa-miR-4251	CLIP-seq
MIRT2542957	hsa-miR-4266	CLIP-seq
MIRT2542959	hsa-miR-4279	CLIP-seq
MIRT2542961	hsa-miR-4419b	CLIP-seq
MIRT2542963	hsa-miR-4436b-5p	CLIP-seq
MIRT2542965	hsa-miR-4478	CLIP-seq
MIRT1033741	hsa-miR-4652-3p	CLIP-seq
MIRT2542971	hsa-miR-4695-5p	CLIP-seq
MIRT2542972	hsa-miR-4709-3p	CLIP-seq
MIRT2542975	hsa-miR-4759	CLIP-seq
MIRT2542977	hsa-miR-4760-5p	CLIP-seq
MIRT2542978	hsa-miR-4764-5p	CLIP-seq
MIRT2542979	hsa-miR-4779	CLIP-seq
MIRT2542980	hsa-miR-485-5p	CLIP-seq
MIRT2542981	hsa-miR-495	CLIP-seq
MIRT2542985	hsa-miR-499a-5p	CLIP-seq
MIRT2542986	hsa-miR-510	CLIP-seq
MIRT2542987	hsa-miR-513c	CLIP-seq
MIRT2542988	hsa-miR-514b-5p	CLIP-seq
MIRT2542994	hsa-miR-579	CLIP-seq
MIRT2542995	hsa-miR-587	CLIP-seq
MIRT2542996	hsa-miR-600	CLIP-seq
MIRT2542997	hsa-miR-617	CLIP-seq
MIRT2543000	hsa-miR-641	CLIP-seq
MIRT2543002	hsa-miR-665	CLIP-seq
MIRT2239000	hsa-miR-7	CLIP-seq
MIRT2543003	hsa-miR-802	CLIP-seq
MIRT2543004	hsa-miR-873	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IDA	16545136
GO:0001525	Process	Angiogenesis	IEA
GO:0002042	Process	Cell migration involved in sprouting angiogenesis	IEA
GO:0002092	Process	Positive regulation of receptor internalization	IEA
GO:0002092	Process	Positive regulation of receptor internalization	ISS	9660951
GO:0003337	Process	Mesenchymal to epithelial transition involved in metanephros morphogenesis	IEA
GO:0005125	Function	Cytokine activity	IEA
GO:0005515	Function	Protein binding	IPI	16545136, 20660291, 27036124, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	NAS	9660951
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	ISS
GO:0007267	Process	Cell-cell signaling	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	16545136
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0009954	Process	Proximal/distal pattern formation	IEA
GO:0009986	Component	Cell surface	IEA
GO:0010717	Process	Regulation of epithelial to mesenchymal transition	IMP	16816361
GO:0016015	Function	Morphogen activity	ISS	9660951
GO:0030199	Process	Collagen fibril organization	IMP	15539560
GO:0030297	Function	Transmembrane receptor protein tyrosine kinase activator activity	IEA
GO:0030297	Function	Transmembrane receptor protein tyrosine kinase activator activity	ISS
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030502	Process	Negative regulation of bone mineralization	IMP	15539560
GO:0030514	Process	Negative regulation of BMP signaling pathway	IDA	15539560
GO:0030514	Process	Negative regulation of BMP signaling pathway	IEA
GO:0030514	Process	Negative regulation of BMP signaling pathway	IMP	16816361, 27036124
GO:0031012	Component	Extracellular matrix	HDA	28327460
GO:0031012	Component	Extracellular matrix	HDA	25037231
GO:0032331	Process	Negative regulation of chondrocyte differentiation	IMP	10556075
GO:0032872	Process	Regulation of stress-activated MAPK cascade	ISS	9660951
GO:0033689	Process	Negative regulation of osteoblast proliferation	IMP	15539560
GO:0036122	Function	BMP binding	IBA
GO:0036122	Function	BMP binding	IDA	27036124
GO:0036122	Function	BMP binding	ISS	9660951
GO:0038098	Process	Sequestering of BMP from receptor via BMP binding	IBA
GO:0042803	Function	Protein homodimerization activity	IPI	27036124
GO:0043066	Process	Negative regulation of apoptotic process	IMP	10556075
GO:0043184	Function	Vascular endothelial growth factor receptor 2 binding	IEA
GO:0043184	Function	Vascular endothelial growth factor receptor 2 binding	ISS	9660951
GO:0043542	Process	Endothelial cell migration	IEA
GO:0045668	Process	Negative regulation of osteoblast differentiation	IMP	27036124
GO:0045668	Process	Negative regulation of osteoblast differentiation	ISS	27910957
GO:0045766	Process	Positive regulation of angiogenesis	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS	9660951
GO:0046851	Process	Negative regulation of bone remodeling	IMP	15539560
GO:0048018	Function	Receptor ligand activity	IBA
GO:0048018	Function	Receptor ligand activity	IEA
GO:0048018	Function	Receptor ligand activity	ISS	9660951
GO:0048263	Process	Determination of dorsal identity	IMP	9660951
GO:0051893	Process	Regulation of focal adhesion assembly	IEA
GO:0055007	Process	Cardiac muscle cell differentiation	IEA
GO:0055007	Process	Cardiac muscle cell differentiation	ISS	9660951
GO:0060173	Process	Limb development	IMP	10556075
GO:0060379	Process	Cardiac muscle cell myoblast differentiation	IEA
GO:0060392	Process	Negative regulation of SMAD protein signal transduction	IDA	15539560
GO:0060676	Process	Ureteric bud formation	IEA
GO:0072331	Process	Signal transduction by p53 class mediator	ISS	9660951
GO:0090027	Process	Negative regulation of monocyte chemotaxis	ISS
GO:0090050	Process	Positive regulation of cell migration involved in sprouting angiogenesis	IEA
GO:0090050	Process	Positive regulation of cell migration involved in sprouting angiogenesis	ISS	9660951
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IDA	15539560
GO:0090190	Process	Positive regulation of branching involved in ureteric bud morphogenesis	IEA
GO:0090291	Process	Negative regulation of osteoclast proliferation	IMP	15539560
GO:1900155	Process	Negative regulation of bone trabecula formation	IMP	15539560
GO:1900158	Process	Negative regulation of bone mineralization involved in bone maturation	IMP	15539560
GO:1900748	Process	Positive regulation of vascular endothelial growth factor signaling pathway	IEA
GO:1900748	Process	Positive regulation of vascular endothelial growth factor signaling pathway	ISS	9660951
GO:1901224	Process	Positive regulation of non-canonical NF-kappaB signal transduction	IEA

Other IDs

• MIM: 603054
• HGNC: 2001
• e!Ensembl: ENSG00000166923

Protein

• UniProt ID: O60565
• Protein name: Gremlin-1 (Cell proliferation-inducing gene 2 protein) (Cysteine knot superfamily 1, BMP antagonist 1) (DAN domain family member 2) (Down-regulated in Mos-transformed cells protein) (Increased in high glucose protein 2) (IHG-2)
• Protein function: Cytokine that may play an important role during carcinogenesis and metanephric kidney organogenesis, as a BMP antagonist required for early limb outgrowth and patterning in maintaining the FGF4-SHH feedback loop. Down-regulates the BMP4 signalin
• PDB: 5AEJ, 8B7H
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03045	DAN	71 → 181	DAN domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in small intestine, fetal brain and colon. Expression is restricted to intestinal subepithelial myofibroblasts (ISEMFs) at the crypt base. In subjects with HMPS1, by contrast, GREM1 is expressed, not only in basal ISEM
• Sequence:

  MSRTAYTVGALLLLLGTLLPAAEGKKKGSQGAIPPPDKAQHNDSEQTQSPQQPGSRNRGR
  GQGRGTAMPGEEVLESSQEALHVTERKYLKRDWCKTQPLKQTIHEEGCNSRTIINRFCYG
  QCNSFYIPRHIRKEEGSFQSCSFCKPKKFTTMMVTLNCPELQPPTKKKRVTRVKQCRCIS
  IDLD

• Sequence length: 184

Pathways

KEGG:

TGF-beta signaling pathway

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
BENIGN NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLON CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL ADENOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial colorectal cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GREM1-related disorder	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHOID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer-predisposing syndrome	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary mixed polyposis syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOSPADIAS	—	GWAS catalog	★★☆☆☆ 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
OROFACIAL CLEFT	—	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
PELVIC ORGAN PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polyposis syndrome, hereditary mixed, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ovarian insufficiency	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY FIBROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RECTUM CANCER	—	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

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	25463068, 27929199		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	24299561		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of duodenum	Adenocarcinoma Of Duodenum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	24737748, 25990418, 29917119, 30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	19949890		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	23155391, 27984123		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	10092300, 12696020, 12885466		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	GWASCAT_DG	30510241		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	12117880, 30862463		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	CTD_human_DG	22561515		★☆☆☆☆ Found in Text Mining only
Alveolitis, Fibrosing	Alveolitis	CTD_human_DG	17975199		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	22870311	Associate	★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	31494396		★☆☆☆☆ Found in Text Mining only
Angina Stable	Angina pectoris	Pubtator	27101443	Stimulate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	24003215, 31494396		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	24003215, 31494396		★☆☆☆☆ Found in Text Mining only
Attenuated familial adenomatous polyposis	Adenomatous polyposis	Pubtator	26493165	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	27919067, 30559470, 30787400, 31220268		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	31798818		★☆☆☆☆ Found in Text Mining only
Basal cell carcinoma	Carcinoma	LHGDN	17003113		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31533776		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	27449045, 30236106, 32141512	Associate	★☆☆☆☆ Found in Text Mining only
Cap Myopathy	Cap myopathy	Pubtator	29453410	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	22561515, 26392110	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	12696020, 17003113		★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	17003113, 28346486	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22839096, 23826422	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	30236106	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	31629809		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	20042676, 20154727	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	28346486	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	34456216	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	17003113, 28346486		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	26530461, 31143092		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	26530461, 31143092		★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	29489415	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Lip with or without Cleft Palate	Cleft Lip With Or Without Cleft Palate	BEFREE	26043427, 29149498, 30402937		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	29489415	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Soft Palate	Cleft palate	Pubtator	29489415	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	33506258	Stimulate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	38070204	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	25153376, 28242209, 30426548		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic neoplasm	Pubtator	32583331	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Polyps	Colonic polyps	Pubtator	25992589, 29804199	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	12885466, 18084292, 21655089, 22367214, 22879968, 23155391, 24586997, 24753543, 25131200, 25153376, 26169059, 26493165, 28041973, 28242209, 28977865, 30426548, 30862463		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	18084292, 30510241		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	GWASDB_DG	19011631, 24737748		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	24737748, 25990418, 29917119, 30510241, 31089142		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	12696020, 17923762, 20659471, 21655089, 22367214, 22505654, 23155391, 23659962, 24753543, 24812030, 25992589, 26208990, 26493165, 26947005, 29504907, 29804199, 32170005, 33476087, 33976257, 35812248, 35883579, 35893034, 36657129, 36800588, 37249599	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	18084292, 30510241		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	24737748, 25990418, 29917119, 30510241, 31089142		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	25131200, 25419707, 31622618		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	25992589, 29804199	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20042676		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	25463068		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	25463068, 26872252, 27929199		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	25463068		★☆☆☆☆ Found in Text Mining only
Cyclin-dependent kinase-like 5 deficiency	Cyclin-Dependent Kinase-Like 5 Deficiency	BEFREE	30006259		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	24286177, 27794162, 29526783, 30926814, 30947534		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	19577778		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	19577778		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	19577778, 37365645	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	27101443	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	27101443	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	35893034	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	19577778		★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic foot	Pubtator	37365645	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	20150533, 25378054, 26412030	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	31053735	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	LHGDN	15957132, 17980714		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	20150533, 21103979, 25085843		★☆☆☆☆ Found in Text Mining only
Double ureter	Double Ureter	BEFREE	22558067		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	18314105		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	LHGDN	18314105		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	18314105	Stimulate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	38115253	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	27218684		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	29953975	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	29953975	Stimulate	★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	BEFREE	31700227		★☆☆☆☆ Found in Text Mining only
Familial Intestinal Polyposis	Multiple polyposis syndrome	CTD_human_DG	22561515		★☆☆☆☆ Found in Text Mining only
Fibromatosis, Aggressive	Fibromatosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibrosis of pancreas	Fibrosis Of Pancreas	BEFREE	26141517		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	23748100	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	23826422	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	27862197, 30120709		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	28100499		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	31053735	Associate	★☆☆☆☆ Found in Text Mining only
Granulomatosis with polyangiitis	Granulomatosis With Polyangiitis	BEFREE	30717680		★☆☆☆☆ Found in Text Mining only
Hamartoma	Hamartoma	BEFREE	26169059		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	32618141	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	22839096	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	16545136	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	16367923		★☆☆☆☆ Found in Text Mining only
Hereditary mixed polyposis syndrome	Hereditary Mixed Polyposis Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	29804199		★☆☆☆☆ Found in Text Mining only
Hyperplastic colonic polyposis	Hyperplastic colonic polyposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperplastic polyposis syndrome	Hyperplastic Polyposis Syndrome	BEFREE	23805267		★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	GWASCAT_DG	25108383		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypospadias	Hypospadias	Pubtator	33962391	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoxia	Hypoxia	Pubtator	20336693, 28522681	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	16816361	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	27428020		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	22160428	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	33506258	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	29016856, 30559470		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	37700277	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Cancer	Intestinal Cancer	BEFREE	25131200		★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	25131200		★☆☆☆☆ Found in Text Mining only
Intestinal Polyposis	Intestinal polyposis	Pubtator	23805267, 26947005	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	31657855		★☆☆☆☆ Found in Text Mining only
Intussusception	Intussusception	HPO_DG			★☆☆☆☆ Found in Text Mining only
Juvenile colonic polyposis	Colonic Polyposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Juvenile polyposis syndrome	Polyposis Syndrome	BEFREE	22561515		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	20150533, 31053735	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	22505654	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	26412030	Stimulate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	28100499		★☆☆☆☆ Found in Text Mining only
Loeys-Dietz Syndrome	Loeys-Dietz Syndrome	BEFREE	25116393		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	LHGDN	18469115		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	21214523, 29703138		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	28522681	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	16234815		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	16234815, 34671675	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31882551	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	16080195		★☆☆☆☆ Found in Text Mining only
Lynch Syndrome	Lynch Syndrome	BEFREE	29804199		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	16080195		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	21935575, 25757056		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31533776		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	24737748, 25990418, 29917119, 30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	31629809		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	16234815		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	28346486		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	16367923		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12696020, 20042676, 25153376, 26530461, 27862197, 28242209, 28346486		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	26530461, 31143092		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	24737748, 25990418, 29917119, 30510241, 31089142		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	25153376, 28242209, 30426548		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	19505925, 21468687		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	16080195		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	28346486	Stimulate	★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	29228689		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	25757056	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Bone Disorder	Metabolic Bone Disorder	LHGDN	15539560		★☆☆☆☆ Found in Text Mining only
MUTYH-Associate Polyposis	Polyposis	BEFREE	23805267		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	27101443	Stimulate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	37365917	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10894942, 12117880, 16080195, 17003113, 20042676, 26530461, 27862197, 29228689, 29958656, 30120709, 31525341, 31622618, 31752555		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	LHGDN	17403698		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	22160428, 28925810, 31384391		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	22160428, 27036124	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	26949155, 29016856		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	34296200	Associate	★☆☆☆☆ Found in Text Mining only
Orofacial cleft	Orofacial Cleft	BEFREE	29149498		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Orofacial Cleft 1	Orofacial cleft	Pubtator	38002937	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	27794162	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	37140355	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	27794162	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	27794162, 30947534		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	31525341		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	22160428	Inhibit	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	30272371	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	26141517		★☆☆☆☆ Found in Text Mining only
Paramyotonia Congenita (disorder)	Paramyotonia Congenita	BEFREE	28346486		★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	25194662		★☆☆☆☆ Found in Text Mining only
Pilomatrixoma	Pilomatrixoma	BEFREE	28346486		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	30712421		★☆☆☆☆ Found in Text Mining only
Polyp of large intestine	Polyp Of Large Intestine	HPO_DG			★☆☆☆☆ Found in Text Mining only
POLYPOSIS SYNDROME, HEREDITARY MIXED, 1	Hereditary mixed polyposis syndrome	CLINGEN_DG	12696020, 16545136, 17881565, 21128281, 22561515, 25419707, 25992589, 26493165		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYPOSIS SYNDROME, HEREDITARY MIXED, 1	Hereditary mixed polyposis syndrome	BEFREE	18084292		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYPOSIS SYNDROME, HEREDITARY MIXED, 1	Hereditary mixed polyposis syndrome	ORPHANET_DG	22561515		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYPOSIS SYNDROME, HEREDITARY MIXED, 1	Hereditary mixed polyposis syndrome	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polyposis, Adenomatous Intestinal	Multiple polyposis syndrome	CTD_human_DG	22561515		★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	22930557		★☆☆☆☆ Found in Text Mining only
Proliferative vitreoretinopathy	Proliferative Vitreoretinopathy	BEFREE	31700227		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	16234815		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	16234815	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	28522681	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	CTD_human_DG	17975199		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	21214523		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rectal Carcinoma	Rectal Carcinoma	BEFREE	30300377		★☆☆☆☆ Found in Text Mining only
Rectal polyp	Rectal Polyp	HPO_DG			★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	27428020		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Alveolar	Rhabdomyosarcoma	Pubtator	23733015	Stimulate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Embryonal	Rhabdomyosarcoma	Pubtator	23733015	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	26834210		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	21214523		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	26531827	Stimulate	★☆☆☆☆ Found in Text Mining only
Schizophrenia, Childhood	Schizophrenia	BEFREE	31242417		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	27713170	Inhibit	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	28346486		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	28346486	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	24299561, 28346486		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	29953975		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	18254958, 27931212	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	16367923		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	16367923, 29396725, 31882551	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Systemic Scleroderma	Scleroderma	BEFREE	17407232		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	23700430		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	23700430	Associate	★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	17163532, 29489415		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	37605239, 39375386	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	16545136	Stimulate	★☆☆☆☆ Found in Text Mining only
Van der Woude syndrome	Van der woude syndrome	Pubtator	29489415	Associate	★☆☆☆☆ Found in Text Mining only
Vesicoureteral Reflux 1	Vesicoureteral Reflux	BEFREE	22558067		★☆☆☆☆ Found in Text Mining only