Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6578
Gene name	Solute carrier organic anion transporter family member 2A1
Gene symbol	SLCO2A1
Synonyms (NCBI Gene)	MATR1OATP2A1PGTPHOADPHOAR2SLC21A2
Chromosome	3
Chromosome location	3q22.1-q22.2
Summary	This gene encodes a prostaglandin transporter that is a member of the 12-membrane-spanning superfamily of transporters. The encoded protein may be involved in mediating the uptake and clearance of prostaglandins in numerous tissues. [provided by RefSeq, D

Show/Hide all (14)

SNP ID	Visualize variation	Clinical significance	Consequence
rs387906806	C>T	Pathogenic	Missense variant, coding sequence variant
rs387907295	C>A	Pathogenic	Missense variant, coding sequence variant
rs387907296	T>A,C	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs387907297	C>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained, 5 prime UTR variant
rs751192029	A>-,AA	Pathogenic	Frameshift variant, coding sequence variant
rs765249238	C>T	Pathogenic	Splice donor variant
rs774795340	C>T	Pathogenic	Coding sequence variant, missense variant
rs776813259	G>A	Pathogenic	Genic downstream transcript variant, downstream transcript variant, coding sequence variant, stop gained
rs1085307096	GGTAGACTTCGG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1381150705	G>C	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs1559927542	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1559943990	C>T	Pathogenic	Splice acceptor variant
rs1576428882	C>G	Likely-pathogenic	Splice acceptor variant
rs1576467025	C>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant

Show/Hide all (67)

miRTarBase ID	miRNA	Experiments	Reference
MIRT025150	hsa-miR-181a-5p	Microarray	17612493
MIRT1369319	hsa-miR-1182	CLIP-seq
MIRT1369320	hsa-miR-1224-3p	CLIP-seq
MIRT1369321	hsa-miR-1229	CLIP-seq
MIRT1369322	hsa-miR-1236	CLIP-seq
MIRT1369323	hsa-miR-1976	CLIP-seq
MIRT1369324	hsa-miR-2467-5p	CLIP-seq
MIRT1369325	hsa-miR-3119	CLIP-seq
MIRT1369326	hsa-miR-3188	CLIP-seq
MIRT1369327	hsa-miR-370	CLIP-seq
MIRT1369328	hsa-miR-3975	CLIP-seq
MIRT1369329	hsa-miR-4279	CLIP-seq
MIRT1369330	hsa-miR-4286	CLIP-seq
MIRT1369331	hsa-miR-4488	CLIP-seq
MIRT1369332	hsa-miR-4667-5p	CLIP-seq
MIRT1369333	hsa-miR-4697-5p	CLIP-seq
MIRT1369334	hsa-miR-4700-3p	CLIP-seq
MIRT1369335	hsa-miR-4700-5p	CLIP-seq
MIRT1369336	hsa-miR-4757-5p	CLIP-seq
MIRT1369337	hsa-miR-4768-5p	CLIP-seq
MIRT1369338	hsa-miR-485-5p	CLIP-seq
MIRT1369339	hsa-miR-637	CLIP-seq
MIRT2332910	hsa-miR-130a	CLIP-seq
MIRT2332911	hsa-miR-130b	CLIP-seq
MIRT2332912	hsa-miR-2682	CLIP-seq
MIRT2332913	hsa-miR-299-3p	CLIP-seq
MIRT2332914	hsa-miR-301a	CLIP-seq
MIRT2332915	hsa-miR-301b	CLIP-seq
MIRT2332916	hsa-miR-3122	CLIP-seq
MIRT2332917	hsa-miR-34a	CLIP-seq
MIRT2332918	hsa-miR-34c-5p	CLIP-seq
MIRT2332919	hsa-miR-3666	CLIP-seq
MIRT2332920	hsa-miR-3689a-3p	CLIP-seq
MIRT2332921	hsa-miR-3689c	CLIP-seq
MIRT2332922	hsa-miR-3714	CLIP-seq
MIRT2332923	hsa-miR-3913-5p	CLIP-seq
MIRT2332924	hsa-miR-4270	CLIP-seq
MIRT2332925	hsa-miR-4295	CLIP-seq
MIRT2332926	hsa-miR-4297	CLIP-seq
MIRT2332927	hsa-miR-4441	CLIP-seq
MIRT2332928	hsa-miR-4464	CLIP-seq
MIRT2332929	hsa-miR-4493	CLIP-seq
MIRT2332930	hsa-miR-449a	CLIP-seq
MIRT2332931	hsa-miR-449b	CLIP-seq
MIRT2332932	hsa-miR-449c	CLIP-seq
MIRT2332933	hsa-miR-454	CLIP-seq
MIRT2332934	hsa-miR-4648	CLIP-seq
MIRT2332935	hsa-miR-4654	CLIP-seq
MIRT2332936	hsa-miR-4710	CLIP-seq
MIRT2332937	hsa-miR-4748	CLIP-seq
MIRT2332938	hsa-miR-4755-3p	CLIP-seq
MIRT1369336	hsa-miR-4757-5p	CLIP-seq
MIRT2332939	hsa-miR-4769-5p	CLIP-seq
MIRT2332940	hsa-miR-515-3p	CLIP-seq
MIRT2332941	hsa-miR-519e	CLIP-seq
MIRT2332942	hsa-miR-548m	CLIP-seq
MIRT2332943	hsa-miR-576-3p	CLIP-seq
MIRT2394833	hsa-miR-1179	CLIP-seq
MIRT1369319	hsa-miR-1182	CLIP-seq
MIRT2394834	hsa-miR-3184	CLIP-seq
MIRT2394835	hsa-miR-423-5p	CLIP-seq
MIRT2394836	hsa-miR-4649-3p	CLIP-seq
MIRT2394837	hsa-miR-4716-3p	CLIP-seq
MIRT2394838	hsa-miR-4723-5p	CLIP-seq
MIRT2394839	hsa-miR-4728-5p	CLIP-seq
MIRT2394840	hsa-miR-507	CLIP-seq
MIRT2394841	hsa-miR-557	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005319	Function	Lipid transporter activity	IEA
GO:0005319	Function	Lipid transporter activity	TAS	8787677
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8787677
GO:0006869	Process	Lipid transport	IEA
GO:0006869	Process	Lipid transport	TAS	8787677
GO:0009925	Component	Basal plasma membrane	IDA	35307651
GO:0009925	Component	Basal plasma membrane	IEA
GO:0015132	Function	Prostaglandin transmembrane transporter activity	IBA
GO:0015132	Function	Prostaglandin transmembrane transporter activity	IEA
GO:0015132	Function	Prostaglandin transmembrane transporter activity	TAS
GO:0015347	Function	Sodium-independent organic anion transmembrane transporter activity	IBA
GO:0015732	Process	Prostaglandin transport	IBA
GO:0015732	Process	Prostaglandin transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	8787677
GO:0016323	Component	Basolateral plasma membrane	IBA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0043252	Process	Sodium-independent organic anion transport	IBA
GO:0043252	Process	Sodium-independent organic anion transport	TAS
GO:0055085	Process	Transmembrane transport	IEA

MIM	HGNC	e!Ensembl
601460	10955	ENSG00000174640

Q92959

Protein name

Solute carrier organic anion transporter family member 2A1 (SLCO2A1) (OATP2A1) (PHOAR2) (Prostaglandin transporter) (PGT) (Solute carrier family 21 member 2) (SLC21A2)

Protein function

Mediates the transport of prostaglandins (PGs, mainly PGE2, PGE1, PGE3, PGF2alpha, PGD2, PGH2) and thromboxanes (thromboxane B2) across the cell membrane (PubMed:11997326, PubMed:26692285, PubMed:8787677). PGs and thromboxanes play fundamental r

PDB

3MRR , 8KGI , 8KGV , 8KGW

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03137	OATP	33 → 602	Organic Anion Transporter Polypeptide (OATP) family	Family
PF07648	Kazal_2	445 → 494	Kazal-type serine protease inhibitor domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous (PubMed:22331663, PubMed:8787677). Significant expression observed in lung, kidney, spleen, and heart (PubMed:22331663). Expressed in the endometrium (at both mRNA and protein levels) (PubMed:15657371, PubMed:16339169). Expr

Sequence

MGLLPKLGASQGSDTSTSRAGRCARSVFGNIKVFVLCQGLLQLCQLLYSAYFKSSLTTIE
KRFGLSSSSSGLISSLNEISNAILIIFVSYFGSRVHRPRLIGIGGLFLAAGAFILTLPHF
LSEPYQYTLASTGNNSRLQAELCQKHWQDLPPSKCHSTTQNPQKETSSMWGLMVVAQLLA
GIGTVPIQPFGISYVDDFSEPSNSPLYISILFAISVFGPAFGYLLGSVMLQIFVDYGRVN
TAAVNLVPGDPRWIGAWWLGLLISSALLVLTSFPFFFFPRAMPIGAKRAPATADEARKLE
EAKSRGSLVDFIKRFPCIFLRLLMNSLFVLVVLAQCTFSSVIAGLSTFLNKFLEKQYGTS
AAYANFLIGAVNLPAAALGMLFGGILMKRFVFSLQAIPRIATTIITISMILCVPLFFMGC
STPTVAEVYPPSTSSSIHPQSPACRRDCSCPDSIFHPVCGDNGIEYLSPCHAGCSNINMS
SATSKQLIYLNCSCVTGGSASAKTGSCPVPCAHFLLPAIFLISFVSLIACISHNPLYMMV
LRVVNQEEKSFAIGVQFLLMRLLAWLPSPALYGLTIDHSCIRWNSLCLGRRGACAYYDND
ALRDRYLGLQMGYKALGMLLLCFISWRVKKNKEYNVQKAAGLI

Sequence length

643

Interactions

View interactions

	Reactome
			Defective SLCO2A1 causes primary, autosomal recessive hypertrophic osteoarthropathy 2 (PHOAR2) Transport of organic anions

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)

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cervical cancer	Pathogenic	rs774795340	RCV005900928	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatocellular carcinoma	Pathogenic	rs765249238	RCV005893890	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic osteoarthropathy, primary, autosomal dominant	Pathogenic; Likely pathogenic	rs2108043577, rs765824772, rs1177054873, rs776813259, rs774795340, rs387907297	RCV001527660 RCV001527662 RCV001527665 RCV001527663 RCV001527659 RCV001527661 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2	Pathogenic; Likely pathogenic	rs2108043577, rs778081416, rs1177054873, rs2108035368, rs765698717, rs2108045784, rs2108045848, rs200316980, rs387907297, rs1576444504, rs768030732, rs758054913, rs776813259, rs1085307096, rs765249238 View all (25 more)	RCV003642961 RCV001527664 RCV001527666 RCV001527667 RCV001533517 View all (38 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pachydermoperiostosis syndrome	Pathogenic	rs2472498909	RCV003994633	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (20)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ENTEROPATHY ASSOCIATED WITH SLCO2A1 GENE	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ENTEROPATHY ASSOCIATED WITH SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY MEMBER 2A1 GENE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL ADENOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
COLORECTAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PACHYDERMOPERIOSTOSIS	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLCO2A1-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (105)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acne	Acne	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	29471430, 30510241, 30529582		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	23033009		★★★★★ ★☆☆☆☆ 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	29185482		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	18353443	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	29313109, 33328413, 33852188, 35611666	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	36818541	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthralgia	Arthralgia	Pubtator	33852188, 37226222	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	32092751	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	31141845		★★★★★ ★☆☆☆☆ Found in Text Mining only
beta^+^ Thalassemia	beta Thalassemia	BEFREE	31141845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25433169, 28029661		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35617355	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	21383546, 33988674	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	26464663, 8019955		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	26539716, 29313109, 30400730, 31011259, 31611528, 32092751, 32943023, 33166338, 33328413, 35185052, 35611666, 36480694, 36907595, 37077520	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic enteropathy associated with SLCO2A1 gene	Enteropathy Associated With SLCO2A1 Gene	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clubfoot	Clubfoot	Pubtator	24838973	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	30065566, 32943023, 36480694	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	29185482		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	24838973	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	21383546	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	24838973		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	19138942, 24694755		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	29471430, 30510241, 30529582		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	30510241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24694755, 24838973, 35416128	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	29471430, 30510241, 30529582		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	30510241		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	27269280, 31532310		★★★★★ ★☆☆☆☆ Found in Text Mining only
CRANIOOSTEOARTHROPATHY	Cranioosteoarthropathy	ORPHANET_DG	22197487, 22331663		★★★★★ ★☆☆☆☆ Found in Text Mining only
CRANIOOSTEOARTHROPATHY	Cranioosteoarthropathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	26539716, 28510689, 29313109, 30400730		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	26539716, 29313109, 36480694	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutis verticis gyrata	Cutis Verticis Gyrata	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	31467884		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ductus Arteriosus Patent	Patent ductus arteriosus	Pubtator	26265282	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Syndrome	Fanconi syndrome	Pubtator	32278009	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	26250887		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	32784296	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Hemorrhage	Gastrointestinal hemorrhage	Pubtator	28425581	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Hemorrhage	Gastrointestinal hemorrhage	Pubtator	32943023	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	27336732		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary clubbing	Hereditary Clubbing	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	31712634		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperostosis	Hyperostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Hypertrophic Osteoarthropathy	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1	Hypertrophic Osteoarthropathy	ORPHANET_DG	22197487, 22331663		★★★★★ ★☆☆☆☆ Found in Text Mining only
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1	Hypertrophic Osteoarthropathy	BEFREE	28425581, 28963081		★★★★★ ★☆☆☆☆ Found in Text Mining only
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2	Hypertrophic Osteoarthropathy	CLINVAR_DG	22197487, 22906430, 24153155, 24929850		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2	Hypertrophic Osteoarthropathy	UNIPROT_DG	22197487, 22331663, 22553128, 22696055		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2	Hypertrophic Osteoarthropathy	BEFREE	28425581, 28963081, 31004291		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2	Hypertrophic Osteoarthropathy	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	12100034	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	31691606		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	BEFREE	26539716, 28510689, 29313109, 30313113, 30400730, 31011259, 31196708		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	30065566, 32092751, 35611666	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Polyposis	Intestinal polyposis	Pubtator	32092751	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31467884		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26464663	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25433169, 28029661		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	29471430, 30510241, 30529582		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	26464663, 8019955		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30702489		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25433169		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	29185482		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	29471430, 30510241, 30529582		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	23509104		★★★★★ ★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	29697414, 29945889, 30146380, 30316435, 30334131, 30500907, 30624282, 31082515, 31220868, 31236830, 31811307		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	BEFREE	22553128		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23625733		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthropathy Primary Hypertrophic	Primary hypertrophic osteoarthropathy	Pubtator	22197487, 24838973, 27134495, 28425581, 28851954, 29313109, 31611528, 33328413, 33852188, 34027406, 35611666, 35813463, 37226222, 39607761	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthropathy, Primary Hypertrophic	Pachydermoperiostosis syndrome	BEFREE	22197487, 22331663, 22553128, 22906430, 23509104, 23531451, 24012041, 24153155, 24185079, 26135126, 27134495, 28339061, 28602931, 28851954, 28963081 View all (8 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthropathy, Primary Hypertrophic	Pachydermoperiostosis syndrome	ORPHANET_DG	22197487, 22331663		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthropathy, Primary Hypertrophic	Pachydermoperiostosis syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pachydermoperiostosis	Pachydermoperiostosis Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	23307416	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic Ulcer	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Periostosis	Periostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	22553128		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	GWASCAT_DG	31095341		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	33619025	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seborrheic dermatitis	Seborrheic dermatitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	31588198, 31781167		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	23137910	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	23137910		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30702489		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30702489, 33081378, 33440718, 36044785	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid cancer follicular	Follicular thyroid cancer	Pubtator	24099521	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation, Paroxysmal Familial, 1	Ventricular Fibrillation	BEFREE	29566854, 30910146, 31615308		★★★★★ ★☆☆☆☆ Found in Text Mining only

SLCO2A1 (solute carrier organic anion transporter family member 2A1)