CCM2 (CCM2 scaffold protein)

Gene

• Entrez ID: 83605
• Gene name: CCM2 scaffold protein
• Gene symbol: CCM2
• Synonyms (NCBI Gene): C7orf22, OSM, PP10187
• Chromosome: 7
• Chromosome location: 7p13
• Summary: This gene encodes a scaffold protein that functions in the stress-activated p38 Mitogen-activated protein kinase (MAPK) signaling cascade. The protein interacts with SMAD specific E3 ubiquitin protein ligase 1 (also known as SMURF1) via a phosphotyrosine

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852841	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs137852843	T>G	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs755800734	C>T	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, stop gained
rs765548101	C>G,T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, synonymous variant
rs886041157	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1057520070	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs1131691312	->AG	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs1131691538	TTCT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs1204653825	C>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1331484727	->C	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554365507	A>G	Likely-pathogenic	Splice acceptor variant, intron variant
rs1554365511	->ATTTAAACGAGTATTTAAA	Pathogenic	Coding sequence variant, non coding transcript variant, inframe indel, intron variant, stop gained
rs1554365577	->G	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant
rs1554375233	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554377652	T>C	Likely-pathogenic	Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs1562881854	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, frameshift variant
rs1562881859	AG>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, stop gained
rs1562881980	TG>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, frameshift variant
rs1562882045	AGAC>-	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, frameshift variant
rs1562882049	A>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, stop gained
rs1562906798	AA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562906981	G>A	Pathogenic	Splice donor variant
rs1562907331	GCCCTGTGGTTCCTTCCAGAGAGCCCACCAGCTTCCGGGACACTTGACTCAGGAGCACGATGCTGTGCTCAGCCTGTCTGCGT>-	Likely-pathogenic	Splice acceptor variant, non coding transcript variant, intron variant, coding sequence variant
rs1562907365	G>A,T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs1562907455	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1562912426	T>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs1562912441	G>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, frameshift variant
rs1562912528	G>A	Likely-pathogenic	Coding sequence variant, synonymous variant, non coding transcript variant, intron variant
rs1562913873	G>A	Pathogenic	Splice acceptor variant, intron variant
rs1562917629	G>-	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, intron variant, frameshift variant
rs1562921605	AG>-	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic downstream transcript variant
rs1583901813	ATGAGAAGGTGACAGAGAGGCGCCCT>-	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, frameshift variant
rs1583970495	->GCCC	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1583983649	T>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs1583984070	G>C	Pathogenic	Intron variant, splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT871135	hsa-miR-1323	CLIP-seq
MIRT871136	hsa-miR-19a	CLIP-seq
MIRT871137	hsa-miR-19b	CLIP-seq
MIRT871138	hsa-miR-2277-3p	CLIP-seq
MIRT871139	hsa-miR-3607-5p	CLIP-seq
MIRT871140	hsa-miR-3660	CLIP-seq
MIRT871141	hsa-miR-3914	CLIP-seq
MIRT871142	hsa-miR-4287	CLIP-seq
MIRT871143	hsa-miR-4292	CLIP-seq
MIRT871144	hsa-miR-4308	CLIP-seq
MIRT871145	hsa-miR-4446-3p	CLIP-seq
MIRT871146	hsa-miR-4462	CLIP-seq
MIRT871147	hsa-miR-4469	CLIP-seq
MIRT871148	hsa-miR-4526	CLIP-seq
MIRT871149	hsa-miR-4656	CLIP-seq
MIRT871150	hsa-miR-4685-3p	CLIP-seq
MIRT871151	hsa-miR-4701-5p	CLIP-seq
MIRT871152	hsa-miR-548a-3p	CLIP-seq
MIRT871153	hsa-miR-548e	CLIP-seq
MIRT871154	hsa-miR-548f	CLIP-seq
MIRT871155	hsa-miR-548o	CLIP-seq
MIRT871156	hsa-miR-588	CLIP-seq
MIRT871157	hsa-miR-182	CLIP-seq
MIRT871136	hsa-miR-19a	CLIP-seq
MIRT871137	hsa-miR-19b	CLIP-seq
MIRT871158	hsa-miR-23a	CLIP-seq
MIRT871159	hsa-miR-23b	CLIP-seq
MIRT871160	hsa-miR-23c	CLIP-seq
MIRT871161	hsa-miR-338-5p	CLIP-seq
MIRT871139	hsa-miR-3607-5p	CLIP-seq
MIRT871141	hsa-miR-3914	CLIP-seq
MIRT871162	hsa-miR-3921	CLIP-seq
MIRT871163	hsa-miR-3974	CLIP-seq
MIRT871164	hsa-miR-4251	CLIP-seq
MIRT871165	hsa-miR-4329	CLIP-seq
MIRT871166	hsa-miR-4477b	CLIP-seq
MIRT871167	hsa-miR-4653-5p	CLIP-seq
MIRT871168	hsa-miR-4693-3p	CLIP-seq
MIRT871169	hsa-miR-4756-3p	CLIP-seq
MIRT871170	hsa-miR-593	CLIP-seq
MIRT871171	hsa-miR-944	CLIP-seq
MIRT871158	hsa-miR-23a	CLIP-seq
MIRT871159	hsa-miR-23b	CLIP-seq
MIRT871160	hsa-miR-23c	CLIP-seq
MIRT871168	hsa-miR-4693-3p	CLIP-seq
MIRT871171	hsa-miR-944	CLIP-seq
MIRT2195403	hsa-miR-128	CLIP-seq
MIRT2195404	hsa-miR-1285	CLIP-seq
MIRT2195405	hsa-miR-205	CLIP-seq
MIRT2195406	hsa-miR-27a	CLIP-seq
MIRT2195407	hsa-miR-27b	CLIP-seq
MIRT2195408	hsa-miR-3125	CLIP-seq
MIRT2195409	hsa-miR-3187-5p	CLIP-seq
MIRT2195410	hsa-miR-378g	CLIP-seq
MIRT2195411	hsa-miR-3916	CLIP-seq
MIRT2195412	hsa-miR-4268	CLIP-seq
MIRT2195413	hsa-miR-4448	CLIP-seq
MIRT871146	hsa-miR-4462	CLIP-seq
MIRT2195414	hsa-miR-4486	CLIP-seq
MIRT2195415	hsa-miR-4660	CLIP-seq
MIRT2195416	hsa-miR-4757-3p	CLIP-seq
MIRT2195417	hsa-miR-513a-5p	CLIP-seq
MIRT2195418	hsa-miR-612	CLIP-seq
MIRT2195419	hsa-miR-877	CLIP-seq
MIRT2195420	hsa-miR-936	CLIP-seq
MIRT871171	hsa-miR-944	CLIP-seq
MIRT2195403	hsa-miR-128	CLIP-seq
MIRT2195406	hsa-miR-27a	CLIP-seq
MIRT2195407	hsa-miR-27b	CLIP-seq
MIRT2195408	hsa-miR-3125	CLIP-seq
MIRT2385700	hsa-miR-3661	CLIP-seq
MIRT2195411	hsa-miR-3916	CLIP-seq
MIRT2385701	hsa-miR-4632	CLIP-seq
MIRT2385702	hsa-miR-4751	CLIP-seq
MIRT2385703	hsa-miR-492	CLIP-seq
MIRT2385704	hsa-miR-631	CLIP-seq
MIRT2195419	hsa-miR-877	CLIP-seq
MIRT2195420	hsa-miR-936	CLIP-seq
MIRT871142	hsa-miR-4287	CLIP-seq
MIRT871143	hsa-miR-4292	CLIP-seq
MIRT871144	hsa-miR-4308	CLIP-seq
MIRT871147	hsa-miR-4469	CLIP-seq
MIRT871150	hsa-miR-4685-3p	CLIP-seq
MIRT871151	hsa-miR-4701-5p	CLIP-seq
MIRT2446499	hsa-miR-566	CLIP-seq
MIRT871156	hsa-miR-588	CLIP-seq
MIRT2498728	hsa-miR-1237	CLIP-seq
MIRT2498729	hsa-miR-1248	CLIP-seq
MIRT2195404	hsa-miR-1285	CLIP-seq
MIRT871138	hsa-miR-2277-3p	CLIP-seq
MIRT2195409	hsa-miR-3187-5p	CLIP-seq
MIRT2195410	hsa-miR-378g	CLIP-seq
MIRT2195413	hsa-miR-4448	CLIP-seq
MIRT2195414	hsa-miR-4486	CLIP-seq
MIRT2195415	hsa-miR-4660	CLIP-seq
MIRT2195418	hsa-miR-612	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001568	Process	Blood vessel development	IEA
GO:0001570	Process	Vasculogenesis	IBA
GO:0001570	Process	Vasculogenesis	IEA
GO:0001570	Process	Vasculogenesis	IMP	14740320
GO:0001701	Process	In utero embryonic development	IEA
GO:0001885	Process	Endothelial cell development	IEA
GO:0001944	Process	Vasculature development	IEA
GO:0003158	Process	Endothelium development	NAS	17657516
GO:0005515	Function	Protein binding	IPI	16037064, 17657516, 20489202, 23007647, 23266514, 25525273, 25814554, 25910212, 25982527, 27027284, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IDA	16037064
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA
GO:0007229	Process	Integrin-mediated signaling pathway	TAS	16037064
GO:0007507	Process	Heart development	IBA
GO:0007507	Process	Heart development	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0045216	Process	Cell-cell junction organization	IEA
GO:0045765	Process	Regulation of angiogenesis	NAS	17657516
GO:0048839	Process	Inner ear development	IEA
GO:0048845	Process	Venous blood vessel morphogenesis	IEA
GO:0051403	Process	Stress-activated MAPK cascade	TAS	16037064
GO:0060039	Process	Pericardium development	IEA
GO:0060837	Process	Blood vessel endothelial cell differentiation	IEA
GO:0061154	Process	Endothelial tube morphogenesis	IMP	19151727

Other IDs

• MIM: 607929
• HGNC: 21708
• e!Ensembl: ENSG00000136280

Protein

• UniProt ID: Q9BSQ5
• Protein name: Cerebral cavernous malformations 2 protein (Malcavernin)
• Protein function: Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity. May act through the stabilization of endothelial cell junctions (By similarity). May function as a scaffold protein for MAP2K3-MAP3K
• PDB: 4FQN, 4TVQ, 4WJ7, 4Y5O, 4YKC, 4YKD, 4YL6
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16545	CCM2_C	287 → 387	Cerebral cavernous malformation protein, harmonin-homology	Domain

• Sequence:

  MEEEGKKGKKPGIVSPFKRVFLKGEKSRDKKAHEKVTERRPLHTVVLSLPERVEPDRLLS
  DYIEKEVKYLGQLTSIPGYLNPSSRTEILHFIDNAKRAHQLPGHLTQEHDAVLSLSAYNV
  KLAWRDGEDIILRVPIHDIAAVSYVRDDAAHLVVLKTAQDPGISPSQSLCAESSRGLSAG
  SLSESAVGPVEACCLVILAAESKVAAEELCCLLGQVFQVVYTESTIDFLDRAIFDGASTP
  THHLSLHSDDSSTKVDIKETYEVEASTFCFPESVDVGGASPHSKTISESELSASATELLQ
  DYMLTLRTKLSSQEIQQFAALLHEYRNGASIHEFCINLRQLYGDSRKFLLLGLRPFIPEK
  DSQHFENFLETIGVKDGRGIITDSFGRHRRALSTTSSSTTNGNRATGSSDDRSAPSEGDE
  WDRMISDISSDIEALGCSMDQDSA

• Sequence length: 444

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
Cavernous hemangioma	Pathogenic	rs765548101	RCV000414908	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CCM2-related disorder	Likely pathogenic; Pathogenic	rs797044623, rs2486113704, rs759104121, rs755800734, rs1562912441, rs767248510	RCV004751328 RCV003421112 RCV003983350 RCV003389649 RCV004751677 RCV003396677	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cerebral cavernous angioma	Likely pathogenic	rs1797327591	RCV001265075	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebral cavernous malformation	Likely pathogenic; Pathogenic	rs2128747719, rs2128729172	RCV001728077 RCV001848603	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebral cavernous malformation 2	Pathogenic; Likely pathogenic	rs1798970889, rs2128729177, rs2128747319, rs2128747608, rs1259805013, rs2128729110, rs2128749865, rs1798890807, rs2128729105, rs2128637642, rs2486175038, rs1562848466, rs137852841, rs137852842, rs1562906981, rs137852843, rs2486144482, rs797044623, rs2485984746, rs2485985882, rs2486112725, rs2486170351, rs2485984791, rs2486144656, rs886041157, rs2486112288, rs2486112668, rs2486112694, rs1350848319, rs2486113917, rs2486135424, rs2485984699, rs2486144500, rs2486144218, rs773187380, rs2486135403, rs2485985621, rs755800734, rs1554365511, rs1554365507, rs1554377652, rs1562912426, rs1562906798, rs1562921605, rs1562848479, rs1562882049, rs1562882045, rs1562907365, rs1562912528, rs1562913873, rs1562917629, rs1331484727, rs1562881854, rs1583970495, rs1583984070, rs765548101, rs1437280900, rs756276859, rs767248510, rs1795541254, rs1797324598, rs1798979994, rs745710633	RCV001332643 RCV001389766 RCV001383102 RCV001803624 RCV001944784 RCV001892701 RCV001921045 RCV001932653 RCV001949433 RCV001947012 RCV002290422 RCV000002799 RCV000002800 RCV000002803 RCV000002804 RCV000002805 RCV003060112 RCV000173535 RCV002774956 RCV002814962 RCV002839116 RCV002847141 RCV002862691 RCV003031902 RCV001855050 RCV003319556 RCV003319557 RCV003319558 RCV003319559 RCV003388501 RCV003498220 RCV003498264 RCV003498787 RCV003499941 RCV003497747 RCV003498580 RCV003605337 RCV003605490 RCV000644584 RCV000526565 RCV000550716 RCV000550896 RCV000681486 RCV000691065 RCV000002806 RCV000791931 RCV001049222 RCV001849084 RCV001868914 RCV003479207 RCV000002801 RCV003768166 RCV000819668 RCV001051783 RCV000819398 RCV000806137 RCV001063501 RCV001039626 RCV001069823 RCV001053267 RCV001095648 RCV001224396 RCV001237427 RCV001251154	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malignant tumor of esophagus	Likely pathogenic	rs2486175038	RCV005931689	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Subcutaneous venous lacunae	Likely pathogenic	rs1797327591	RCV001265075	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CAVERNOUS HEMANGIOMA OF BRAIN	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL CAVERNOUS MALFORMATIONS 2	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CEREBRAL ANEURYSM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MALFORMATION OF CEREBRAL VESSELS NOS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA, VASCULAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL VENOUS ANOMALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL CEREBRAL CAVERNOUS MALFORMATION	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILILAL CEREBRAL CAVERNOUS MALFORMATIONS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular dementia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vasculitis	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	10732762, 18491353, 28729401		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	11095488		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	19755102, 22782892		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	16369169		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	40306441	Stimulate	★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	22056139, 24322910, 30582455		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	28053127		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	17321344	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	30273401, 31461490		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	12794844, 24767864, 26304992, 28093521		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	LHGDN	16802343		★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	16917497	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	10632674, 15146412, 17009243, 19565514, 19627579, 32561292	Associate	★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	BEFREE	12794844		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	19916861	Stimulate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	26355153, 27993536		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	11284716, 25246098	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	12730964, 14603252, 16206166, 17982672, 25246098		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	24307759, 28471981	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	30273401, 31461490		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	28471981		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	28471981	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	31555281		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	21965736		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	19652200	Stimulate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	10704821, 11494026, 14603252, 15809742, 17982672		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10547071, 12584569, 20101226, 21937440, 22267707, 23318420, 29625858, 29898744, 30170303, 30439625, 31007849, 31496817, 31637624, 31680294, 9038373, 9186000, 9187125, 9426692		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28106823, 31036052, 34011405, 35431232	Associate	★☆☆☆☆ Found in Text Mining only
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1	Capillary Malformation-Arteriovenous Malformation	GENOMICS_ENGLAND_DG	14624391		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	34037532	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	34011405	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	15240818	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23621231	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	36495330	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	33057049	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	22056139		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	22056139		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28258089		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	31548569	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	35370030	Associate	★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	17009243	Associate	★☆☆☆☆ Found in Text Mining only
Cavernous Angioma, Central Nervous System	Cavernous Angioma, Central Nervous System	CTD_human_DG	18154020		★☆☆☆☆ Found in Text Mining only
Cavernous hemangioma of retina	Cavernous Hemangioma Of Retina	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cavernous Hemangioma, Extracerebral	Cavernous hemangioma	CTD_human_DG	18154020		★☆☆☆☆ Found in Text Mining only
Cavernous Hemangioma, Intracerebral	Cavernous hemangioma	CTD_human_DG	18154020		★☆☆☆☆ Found in Text Mining only
Cerebral Cavernous Hemangioma	Cerebral Cavernous Hemangioma	CTD_human_DG	18154020		★☆☆☆☆ Found in Text Mining only
Cerebral Cavernous Malformations 1	Cerebral Cavernous Malformation	BEFREE	15934180, 18300272, 23506982, 30314744		★☆☆☆☆ Found in Text Mining only
CEREBRAL CAVERNOUS MALFORMATIONS 2	Cerebral Cavernous Malformation	CLINVAR_DG	14624391, 14740320, 15122722, 17160895, 18300272, 21543988, 23595507, 24466005, 2468908, 27792856		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL CAVERNOUS MALFORMATIONS 2	Cerebral Cavernous Malformation	UNIPROT_DG	14624391, 14740320, 22415356		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL CAVERNOUS MALFORMATIONS 2	Cerebral Cavernous Malformation	GENOMICS_ENGLAND_DG	14624391		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL CAVERNOUS MALFORMATIONS 2	Cerebral Cavernous Malformation	BEFREE	21029238, 22378217, 23000020, 23485406, 23748444, 24058906, 25900426, 26122242, 26417067, 27737651, 30314744, 30476961		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Cavernous Malformations 2	Cerebral cavernous malformation	Pubtator	28387648, 32186778	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL CAVERNOUS MALFORMATIONS 2	Cerebral Cavernous Malformation	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Cavernous Malformations 3	Cerebral Cavernous Malformation	BEFREE	17657516, 18300272, 22378217, 23748444, 24058906, 25900426, 26122242, 28285997, 30314744, 31369819		★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	35370030	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	35686557	Stimulate	★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	27277535	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30213507		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	HPO_DG			★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	19755102, 22782892		★☆☆☆☆ Found in Text Mining only
Chronic eosinophilic leukemia	Eosinophilic Leukemia	BEFREE	23621172		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	23961875		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	22051730		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	15863389		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	LHGDN	15863389		★☆☆☆☆ Found in Text Mining only
Chronic rhinosinusitis with nasal polyps	Rhinosinusitis With Nasal Polyps	BEFREE	30142324		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	10707861, 23144154		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	27277535	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	12856331		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	19662090		★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	34146579	Stimulate	★☆☆☆☆ Found in Text Mining only
Congenital abnormality of vein	Venous malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	BEFREE	29843603		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	27825852, 30582455, 31661975		★☆☆☆☆ Found in Text Mining only
Contact Dermatitis	Dermatitis	CTD_human_DG	25724174		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	38326615	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	BEFREE	31461490		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	25840724, 27993536		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	10632674, 17477816, 24027021, 24767864, 26934912		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	32998701	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	17372020		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	22137028		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	24297795, 27706920, 30661143		★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry Eye Syndromes	BEFREE	29470972		★☆☆☆☆ Found in Text Mining only
Dysplastic Nevus	Dysplastic Nevus	BEFREE	27377700		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	22137028		★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	BEFREE	30320465		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	25954856		★☆☆☆☆ Found in Text Mining only
Enterocolitis	Enterocolitis	Pubtator	33891982	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilic esophagitis	Eosinophilia	BEFREE	25840724		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	23000020		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	32702807	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	40198992	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	8422753		★☆☆☆☆ Found in Text Mining only
Familial cerebral cavernous malformation	Cerebral Cavernous Malformation	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cerebral cavernous malformation	Cerebral cavernous malformation	Pubtator	22773461, 32702807, 36629374, 38420834	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cerebral cavernous malformation	Cerebral Cavernous Malformation	BEFREE	27722904, 28160210		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibrosis, Liver	Liver Fibrosis	BEFREE	28779552, 30394698		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	10936178, 11238743, 11810184, 12730964, 14603252, 16206166, 25748242, 28351321		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	10936178, 16818624	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	25748242, 28351321	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	10936178, 11238743, 14603252, 16206166, 25748242, 28351321		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	10704821, 10936178, 15809742, 25748242, 9505169		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	15809742		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	25748242	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	37047067	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	27825852, 30582455, 31661975		★☆☆☆☆ Found in Text Mining only
Hemangioma of choroid	Hemangioma Of Choroid	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemangioma, Cavernous	Hemangioma, Cavernous	BEFREE	31446620		★☆☆☆☆ Found in Text Mining only
Hemangioma, Cavernous	Hemangioma, Cavernous	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hemangioma, Cavernous, Central Nervous System	Hemangioma	CTD_human_DG	18154020		★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	33891857	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhagic Stroke	Hemorrhagic stroke	Pubtator	19318350, 25825518	Associate	★☆☆☆☆ Found in Text Mining only
Hyperemia	Hyperemia	BEFREE	29470972		★☆☆☆☆ Found in Text Mining only
Hypereosinophilic Syndrome	Hypereosinophilic syndrome	Pubtator	25840724	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	31606738		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	LHGDN	17761945		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	30221703		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	30221703	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	29237808		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	12856331, 28368383, 28469037, 31587593		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	33201212, 33624092, 34843732	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	17372020		★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	9187125		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	12794844		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Juvenile psoriatic arthritis	Juvenile arthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Still Disease	Still Disease	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	11380243, 9456251		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	24027021, 9126708, 9359411		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23144154, 23295442, 25242412		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	10707861, 23144154		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	12905481		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	12905481	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	28626343		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	40198992	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10547071, 12584569, 20101226, 21937440, 22267707, 23318420, 29625858, 29898744, 30170303, 30439625, 31007849, 31496817, 31637624, 31680294, 9038373, 9186000, 9187125, 9426692		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	25954856		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	30675240		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	12061840		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	26671477		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21965736, 22019378, 23867565, 31680294		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30778797		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12730964, 14603252, 23867565, 24300090, 27892764, 28053127, 28288136, 28677505, 29526757, 29898744, 30675240, 31036052, 31272716		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	19662090		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16713283		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	17108126, 20101226, 29246543		★☆☆☆☆ Found in Text Mining only
Mastocytosis Systemic	Systemic mastocytosis	Pubtator	21457934	Associate	★☆☆☆☆ Found in Text Mining only
Mastocytosis, Systemic	Mastocytosis	BEFREE	21457934		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	19755102, 22782892		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	11399520	Inhibit	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	16909117, 24300090, 28560754, 29363180, 7743524		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	27706920, 31548569		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	29103176		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	33891857	Associate	★☆☆☆☆ Found in Text Mining only
Multiple fibrofolliculomas	Multiple Fibrofolliculomas	BEFREE	27722904		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	10214873, 11818668, 12148907, 29510136, 8816418, 8916964		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	8145045, 8916964	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	12730964		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	40724841	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	10657672		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	22051730		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	24322910, 26146616, 27333945, 27825852		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nasal Polyps	Nasal polyposis	BEFREE	25840724, 27993536		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	35682987, 37047067	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	25005773		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11238743, 11494026, 12061840, 19073710, 19755097, 21481226, 22051730, 24703811, 25005773, 25954856, 27333945, 27892764, 29625858, 29898744, 30170303, 30559930, 31036052, 31496817, 31548569, 9186000		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	12730964, 19755102		★☆☆☆☆ Found in Text Mining only
Neuroma	Neuroma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C	Niemann-Pick Disease	BEFREE	25005773		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	29898744		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	24297795, 27706920, 29081506, 30661143, 31606738		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	22267707, 31496817		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	10632674	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	31680294		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	26671477		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	21041998		★☆☆☆☆ Found in Text Mining only
Periapical Periodontitis	Periapical Periodontitis	LHGDN	18637848		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	15863389		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	39513097	Stimulate	★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Negative	Seronegative polyarthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Positive	Polyarthritis, Rheumatoid Factor Positive	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	Pubtator	35370030	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	39320136	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	21965736, 22019378, 23867565, 31680294		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	15712220		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	16917497		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	16917497, 34992498	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	19916861, 21483784	Stimulate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	40343765	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	28297588, 29038604		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	20626292		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10632674, 15146412, 17009243, 17477816, 22019378, 24767864, 26304992		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	15146412		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	33923774	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	10590238, 12531804, 7657807, 7688764, 7887453, 8030759, 8669484	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	12905481	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	19318350, 25825518	Associate	★☆☆☆☆ Found in Text Mining only
Skin Diseases, Vascular	Skin Diseases, Vascular	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	24767864		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	37164949	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	21481226		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	29205362, 29473175		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	29385191	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	30559930		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30778797		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	34037532	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33851342	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	28471981	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	28106823, 31036052		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31036052, 39593161	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	19318350, 19652200, 25825518, 28181149	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	19652200, 29900565		★☆☆☆☆ Found in Text Mining only
Venous malformation	Venous malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma pigmentosum	Pubtator	7688764	Associate	★☆☆☆☆ Found in Text Mining only