ADAMTS9 (ADAM metallopeptidase with thrombospondin type 1 motif 9)

Gene

• Entrez ID: 56999
• Gene name: ADAM metallopeptidase with thrombospondin type 1 motif 9
• Gene symbol: ADAMTS9
• Synonyms (NCBI Gene): -
• Chromosome: 3
• Chromosome location: 3p14.1
• Summary: This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegri

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005668	hsa-miR-29a-3p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR	20971881
MIRT005668	hsa-miR-29a-3p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR	20971881
MIRT005668	hsa-miR-29a-3p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR	20971881
MIRT707548	hsa-miR-8485	HITS-CLIP	21572407
MIRT707547	hsa-miR-329-3p	HITS-CLIP	21572407
MIRT707546	hsa-miR-362-3p	HITS-CLIP	21572407
MIRT707545	hsa-miR-603	HITS-CLIP	21572407
MIRT707544	hsa-miR-4789-3p	HITS-CLIP	21572407
MIRT707543	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT707542	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT707541	hsa-miR-567	HITS-CLIP	21572407
MIRT707540	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT707539	hsa-miR-3941	HITS-CLIP	21572407
MIRT707538	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT707537	hsa-miR-3924	HITS-CLIP	21572407
MIRT707536	hsa-miR-297	HITS-CLIP	21572407
MIRT545145	hsa-miR-548az-5p	PAR-CLIP	21572407
MIRT545144	hsa-miR-548t-5p	PAR-CLIP	21572407
MIRT545142	hsa-miR-3609	PAR-CLIP	21572407
MIRT545143	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT545141	hsa-miR-495-3p	PAR-CLIP	21572407
MIRT545139	hsa-miR-5688	PAR-CLIP	21572407
MIRT545140	hsa-miR-7-1-3p	PAR-CLIP	21572407
MIRT545138	hsa-miR-7-2-3p	PAR-CLIP	21572407
MIRT545137	hsa-miR-3613-3p	PAR-CLIP	21572407
MIRT545136	hsa-miR-183-3p	PAR-CLIP	21572407
MIRT736653	hsa-miR-372-3p	Luciferase reporter assay, Western blotting, qRT-PCR	31637209
MIRT707548	hsa-miR-8485	HITS-CLIP	21572407
MIRT707547	hsa-miR-329-3p	HITS-CLIP	21572407
MIRT707546	hsa-miR-362-3p	HITS-CLIP	21572407
MIRT707545	hsa-miR-603	HITS-CLIP	21572407
MIRT707544	hsa-miR-4789-3p	HITS-CLIP	21572407
MIRT707543	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT707542	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT707541	hsa-miR-567	HITS-CLIP	21572407
MIRT707540	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT707539	hsa-miR-3941	HITS-CLIP	21572407
MIRT707538	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT707537	hsa-miR-3924	HITS-CLIP	21572407
MIRT707536	hsa-miR-297	HITS-CLIP	21572407
MIRT545145	hsa-miR-548az-5p	PAR-CLIP	21572407
MIRT545144	hsa-miR-548t-5p	PAR-CLIP	21572407
MIRT545142	hsa-miR-3609	PAR-CLIP	21572407
MIRT545143	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT545141	hsa-miR-495-3p	PAR-CLIP	21572407
MIRT545139	hsa-miR-5688	PAR-CLIP	21572407
MIRT545140	hsa-miR-7-1-3p	PAR-CLIP	21572407
MIRT545138	hsa-miR-7-2-3p	PAR-CLIP	21572407
MIRT545137	hsa-miR-3613-3p	PAR-CLIP	21572407
MIRT545136	hsa-miR-183-3p	PAR-CLIP	21572407
MIRT766802	hsa-miR-1207-5p	CLIP-seq
MIRT766803	hsa-miR-1258	CLIP-seq
MIRT766804	hsa-miR-1468	CLIP-seq
MIRT766805	hsa-miR-204	CLIP-seq
MIRT766806	hsa-miR-211	CLIP-seq
MIRT766807	hsa-miR-3152-3p	CLIP-seq
MIRT766808	hsa-miR-330-3p	CLIP-seq
MIRT766809	hsa-miR-3610	CLIP-seq
MIRT766810	hsa-miR-3925-3p	CLIP-seq
MIRT766811	hsa-miR-3934	CLIP-seq
MIRT766812	hsa-miR-4253	CLIP-seq
MIRT766813	hsa-miR-4287	CLIP-seq
MIRT766814	hsa-miR-4326	CLIP-seq
MIRT766815	hsa-miR-4422	CLIP-seq
MIRT766816	hsa-miR-4427	CLIP-seq
MIRT766817	hsa-miR-4432	CLIP-seq
MIRT766818	hsa-miR-4446-5p	CLIP-seq
MIRT766819	hsa-miR-4680-3p	CLIP-seq
MIRT766820	hsa-miR-4685-3p	CLIP-seq
MIRT766821	hsa-miR-4691-5p	CLIP-seq
MIRT766822	hsa-miR-4694-5p	CLIP-seq
MIRT766823	hsa-miR-4717-3p	CLIP-seq
MIRT766824	hsa-miR-4756-3p	CLIP-seq
MIRT766825	hsa-miR-4763-3p	CLIP-seq
MIRT766826	hsa-miR-515-5p	CLIP-seq
MIRT766827	hsa-miR-548n	CLIP-seq
MIRT766828	hsa-miR-548t	CLIP-seq
MIRT766829	hsa-miR-548u	CLIP-seq
MIRT766830	hsa-miR-570	CLIP-seq
MIRT766831	hsa-miR-609	CLIP-seq
MIRT766832	hsa-miR-766	CLIP-seq
MIRT766833	hsa-miR-888	CLIP-seq
MIRT1925891	hsa-miR-1252	CLIP-seq
MIRT1925892	hsa-miR-224	CLIP-seq
MIRT1925893	hsa-miR-4709-3p	CLIP-seq
MIRT1925894	hsa-miR-4731-3p	CLIP-seq
MIRT1925895	hsa-miR-4801	CLIP-seq
MIRT1925896	hsa-miR-499-3p	CLIP-seq
MIRT1925897	hsa-miR-499a-3p	CLIP-seq
MIRT1925891	hsa-miR-1252	CLIP-seq
MIRT2167273	hsa-miR-1279	CLIP-seq
MIRT2167274	hsa-miR-9	CLIP-seq
MIRT2167274	hsa-miR-9	CLIP-seq
MIRT2469882	hsa-miR-4666-3p	CLIP-seq
MIRT2469883	hsa-miR-4729	CLIP-seq
MIRT1925896	hsa-miR-499-3p	CLIP-seq
MIRT1925897	hsa-miR-499a-3p	CLIP-seq
MIRT2469884	hsa-miR-651	CLIP-seq
MIRT1925896	hsa-miR-499-3p	CLIP-seq
MIRT1925897	hsa-miR-499a-3p	CLIP-seq
MIRT2469884	hsa-miR-651	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002088	Process	Lens development in camera-type eye	IEA
GO:0003179	Process	Heart valve morphogenesis	ISS
GO:0003229	Process	Ventricular cardiac muscle tissue development	ISS
GO:0004175	Function	Endopeptidase activity	IEA
GO:0004222	Function	Metalloendopeptidase activity	IBA
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IDA	12514189
GO:0006508	Process	Proteolysis	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IDA	12514189
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	TAS	10936055
GO:0008270	Function	Zinc ion binding	IEA
GO:0009617	Process	Response to bacterium	IEA
GO:0009986	Component	Cell surface	IEA
GO:0010596	Process	Negative regulation of endothelial cell migration	ISS
GO:0015031	Process	Protein transport	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030198	Process	Extracellular matrix organization	IBA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0030198	Process	Extracellular matrix organization	ISS
GO:0030318	Process	Melanocyte differentiation	IEA
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	IDA	12514189
GO:0031012	Component	Extracellular matrix	ISS	22261194
GO:0035909	Process	Aorta morphogenesis	ISS
GO:0045636	Process	Positive regulation of melanocyte differentiation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048070	Process	Regulation of developmental pigmentation	IEA
GO:0048593	Process	Camera-type eye morphogenesis	IEA
GO:0061303	Process	Cornea development in camera-type eye	IEA
GO:0090673	Process	Endothelial cell-matrix adhesion	ISS
GO:1903671	Process	Negative regulation of sprouting angiogenesis	ISS

Other IDs

• MIM: 605421
• HGNC: 13202
• e!Ensembl: ENSG00000163638

Protein

• UniProt ID: Q9P2N4
• Protein name: A disintegrin and metalloproteinase with thrombospondin motifs 9 (ADAM-TS 9) (ADAM-TS9) (ADAMTS-9) (EC 3.4.24.-)
• Protein function: Cleaves the large aggregating proteoglycans, aggrecan (at the '1838-Glu-|-Ala-1839' site) and versican (at the '1428-Glu-|-Ala-1429' site). Has a protease-independent function in promoting the transport from the endoplasmic reticulum to the Golg
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01562	Pep_M12B_propep	49 → 207	Reprolysin family propeptide	Family
  PF01421	Reprolysin	293 → 499	Reprolysin (M12B) family zinc metalloprotease	Domain
  PF17771	ADAM_CR_2	511 → 578	ADAM cysteine-rich domain	Domain
  PF00090	TSP_1	591 → 642	Thrombospondin type 1 domain	Domain
  PF05986	ADAM_spacer1	753 → 871	ADAM-TS Spacer 1	Family
  PF19030	TSP1_ADAMTS	939 → 996		Domain
  PF19030	TSP1_ADAMTS	1001 → 1053		Domain
  PF19030	TSP1_ADAMTS	1056 → 1108		Domain
  PF19030	TSP1_ADAMTS	1111 → 1165		Domain
  PF19030	TSP1_ADAMTS	1186 → 1239		Domain
  PF19030	TSP1_ADAMTS	1242 → 1295		Domain
  PF19030	TSP1_ADAMTS	1332 → 1383		Domain
  PF19030	TSP1_ADAMTS	1386 → 1439		Domain
  PF19030	TSP1_ADAMTS	1445 → 1498		Domain
  PF19030	TSP1_ADAMTS	1501 → 1554		Domain
  PF19030	TSP1_ADAMTS	1559 → 1612		Domain
  PF19030	TSP1_ADAMTS	1616 → 1675		Domain
  PF19030	TSP1_ADAMTS	1681 → 1733		Domain
  PF08685	GON	1736 → 1934	GON domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in all fetal tissues. Expressed in a number of adult tissues with highest expression in heart, placenta and skeletal muscle. {ECO:0000269|PubMed:12514189}.
• Sequence:

  MQFVSWATLLTLLVRDLAEMGSPDAAAAVRKDRLHPRQVKLLETLSEYEIVSPIRVNALG
  EPFPTNVHFKRTRRSINSATDPWPAFASSSSSSTSSQAHYRLSAFGQQFLFNLTANAGFI
  APLFTVTLLGTPGVNQTKFYSEEEAELKHCFYKGYVNTNSEHTAVISLCSGMLGTFRSHD
  GDYFIEPLQSMDEQEDEEEQNKPHIIYRRSAPQREPSTGRHACDTSEHKNRHSKDKKKTR
  ARKWGERINLAGDVAALNSGLATEAFSAYGNKTDNTREKRTHRRTKRFLSYPRFVEVLVV
  ADNRMVSYHGENLQHYILTLMSIVASIYKDPSIGNLINIVIVNLIVIHNEQDGPSISFNA
  QTTLKNFCQWQHSKNSPGGIHHDTAVLLTRQDICRAHDKCDTLGLAELGTICDPYRSCSI
  SEDSGLSTAFTIAHELGHVFNMPHDDNNKCKEEGVKSPQHVMAPTLNFYTNPWMWSKCSR
  KYITEFLDTGYGECLLNEPESRPYPLPVQLPGILYNVNKQCELIFGPGSQVCPYMMQCRR
  LWCNNVNGVHKGCRTQHTPWADGTECEPGKHCKYGFCVPKEMDVPVTDGSWGSWSPFGTC
  SRTCGGGIKTAIRECNRPEPKNGGKYCVGRRMKFKSCNTEPCLKQKRDFRDEQCAHFDGK
  HFNINGLLPNVRWVPKYSGILMKDRCKLFCRVAGNTAYYQLRDRVIDGTPCGQDTNDICV
  QGLCRQAGCDHVLNSKARRDKCGVCGGDNSSCKTVAGTFNTVHYGYNTVVRIPAGATNID
  VRQHSFSGETDDDNYLALSSSKGEFLLNGNFVVTMAKREIRIGNAVVEYSGSETAVERIN
  STDRIEQELLLQVLSVGKLYNPDVRYSFNIPIEDKPQQFYWNSHGPWQACSKPCQGERKR
  KLVCTRESDQLTVSDQRCDRLPQPGHITEPCGTDCDLRWHVASRSECSAQCGLGYRTLDI
  YCAKYSRLDGKTEKVDDGFCSSHPKPSNREKCSGECNTGGWRYSAWTECSKSCDGGTQRR
  RAICVNTRNDVLDDSKCTHQEKVTIQRCSEFPCPQWKSGDWSECLVTCGKGHKHRQVWCQ
  FGEDRLNDRMCDPETKPTSMQTCQQPECASWQAGPWGQCSVTCGQGYQLRAVKCIIGTYM
  SVVDDNDCNAATRPTDTQDCELPSCHPPPAAPETRRSTYSAPRTQWRFGSWTPCSATCGK
  GTRMRYVSCRDENGSVADESACATLPRPVAKEECSVTPCGQWKALDWSSCSVTCGQGRAT
  RQVMCVNYSDHVIDRSECDQDYIPETDQDCSMSPCPQRTPDSGLAQHPFQNEDYRPRSAS
  PSRTHVLGGNQWRTGPWGACSSTCAGGSQRRVVVCQDENGYTANDCVERIKPDEQRACES
  GPCPQWAYGNWGECTKLCGGGIRTRLVVCQRSNGERFPDLSCEILDKPPDREQCNTHACP
  HDAAWSTGPWSSCSVSCGRGHKQRNVYCMAKDGSHLESDYCKHLAKPHGHRKCRGGRCPK
  WKAGAWSQCSVSCGRGVQQRHVGCQIGTHKIARETECNPYTRPESERDCQGPRCPLYTWR
  AEEWQECTKTCGEGSRYRKVVCVDDNKNEVHGARCDVSKRPVDRESCSLQPCEYVWITGE
  WSECSVTCGKGYKQRLVSCSEIYTGKENYEYSYQTTINCPGTQPPSVHPCYLRDCPVSAT
  WRVGNWGSCSVSCGVGVMQRSVQCLTNEDQPSHLCHTDLKPEERKTCRNVYNCELPQNCK
  EVKRLKGASEDGEYFLMIRGKLLKIFCAGMHSDHPKEYVTLVHGDSENFSEVYGHRLHNP
  TECPYNGSRRDDCQCRKDYTAAGFSSFQKIRIDLTSMQIITTDLQFARTSEGHPVPFATA
  GDCYSAAKCPQGRFSINLYGTGLSLTESARWISQGNYAVSDIKKSPDGTRVVGKCGGYCG
  KCTPSSGTGLEVRVL

• Sequence length: 1935

Pathways

Reactome:

Defective B3GALTL causes Peters-plus syndrome (PpS)
O-glycosylation of TSR domain-containing proteins

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
Nephronophthisis	Likely pathogenic	rs2106648140	RCV001849640	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ADAMTS9-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHY	—	CTD, ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE NEPHRONOPHTHISIS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHRONOPHTHISIS 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHRONOPHTHISIS, FAMILIAL JUVENILE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ 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

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	36895559	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	25990289	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	32744323	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	25990289		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASCAT_DG	26620591		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	23690187, 29193730		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23690187, 30261893, 30840279, 30959550, 31059025, 31638237, 33371806	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29193730	Inhibit	★☆☆☆☆ Found in Text Mining only
Cancer of Nasopharynx	Nasopharyngeal Cancer	BEFREE	20093484		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	32889785	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	29193730		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30393368, 34923953, 36535531	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	27941916, 35311457	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31400752, 32716909	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	29741786, 33960436, 39940703	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	35401927	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	37258203	Inhibit	★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	18671975	Associate	★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	30609407		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognition Disorders	Cognition disorder	Pubtator	28225792	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	37481583	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29186710		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29186710, 31144439	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32889785	Inhibit	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31400752		★☆☆☆☆ Found in Text Mining only
Corneal Neovascularization	Corneal Neovascularization	BEFREE	20093484		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	37481583	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	14730609, 27230574, 30317616		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	19789630		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	19789630		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	19833888, 34801028	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	18567820, 18694974, 19833888, 22275441, 23967108, 25273842, 26599349	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	18372903, 23967108		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	18567820, 19789630, 20927120, 22377712, 23161442, 23967108, 30626608		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	28821857	Associate	★☆☆☆☆ Found in Text Mining only
Dysbiosis	Dysbiosis	Pubtator	36291689	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	16799631		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	16799631		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	LHGDN	16799631		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	35578166	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35874989	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	24833086	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	34923953, 36449154	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	32979492	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic Encephalopathy	Hepatic encephalopathy	Pubtator	38212812	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	30609407		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Primary	Hyperparathyroidism	BEFREE	28937860		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	37258203	Inhibit	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	37481583	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	28225792	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	19180493	Associate	★☆☆☆☆ Found in Text Mining only
Juvenile nephronophthisis	Nephronophthisis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Krause-Kivlin syndrome	Krause-Kivlin Syndrome	BEFREE	31600785		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	33896828, 36870548	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	30970517	Stimulate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	23455636	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23690187, 29193730		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	20551050		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of nasopharynx	Nasopharyngeal carcinoma	BEFREE	20093484		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	19963134		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	19963134, 22907434		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20551050, 22907434, 23358566		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	21316416, 23358566		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	18449890, 19963134, 20093484, 20551050, 29186710		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16799631, 18449890, 19815638, 19963134, 20093484, 20551050, 22907434, 23358566, 23690187, 24833086, 28244876, 29186710, 29193730		★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	BEFREE	30609407		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephronophthisis, familial juvenile	Nephronophthisis	ORPHANET_DG	30609407		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	29575055		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	18567820	Associate	★☆☆☆☆ Found in Text Mining only
Oral Submucous Fibrosis	Oral submucous fibrosis	Pubtator	33345447	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	14730609, 30655094	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	27230574		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	24279306	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	30446843		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	15599946		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	31682594, 34565027, 39341147	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	36291689	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28850027		★☆☆☆☆ Found in Text Mining only
SMITH-MCCORT DYSPLASIA 1	Smith-McCort Dysplasia	BEFREE	29642006		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	20551050		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	30970517	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33345447	Inhibit	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	22907434		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	BEFREE	22907434		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30089248, 37300839	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32516127	Inhibit	★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	31600785		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	30170380, 31020952, 32277695, 33169791, 34112144, 39726319	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Diseases	Uterine polyp	Pubtator	31010360	Associate	★☆☆☆☆ Found in Text Mining only