ABCC4 (ATP binding cassette subfamily C member 4 (PEL blood group))

Gene

• Entrez ID: 10257
• Gene name: ATP binding cassette subfamily C member 4 (PEL blood group)
• Gene symbol: ABCC4
• Synonyms (NCBI Gene): MOAT-B, MOATB, MRP4
• Chromosome: 13
• Chromosome location: 13q32.1
• Summary: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, M

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1751034	C>G,T	Drug-response	Coding sequence variant, genic downstream transcript variant, synonymous variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004989	hsa-miR-125b-5p	Microarray	17891175
MIRT020794	hsa-miR-155-5p	Proteomics	18668040
MIRT023897	hsa-miR-1-3p	Proteomics	18668040
MIRT031811	hsa-miR-16-5p	Proteomics	18668040
MIRT046379	hsa-miR-23b-3p	CLASH	23622248
MIRT043124	hsa-miR-324-5p	CLASH	23622248
MIRT527079	hsa-miR-7-1-3p	PAR-CLIP	22012620
MIRT527078	hsa-miR-7-2-3p	PAR-CLIP	22012620
MIRT527077	hsa-miR-1277-5p	PAR-CLIP	22012620
MIRT527076	hsa-miR-300	PAR-CLIP	22012620
MIRT527075	hsa-miR-381-3p	PAR-CLIP	22012620
MIRT527074	hsa-miR-4666a-3p	PAR-CLIP	22012620
MIRT527073	hsa-miR-105-5p	PAR-CLIP	22012620
MIRT527072	hsa-miR-7853-5p	PAR-CLIP	22012620
MIRT527071	hsa-miR-8064	PAR-CLIP	22012620
MIRT527070	hsa-let-7a-3p	PAR-CLIP	22012620
MIRT527069	hsa-let-7b-3p	PAR-CLIP	22012620
MIRT527068	hsa-let-7f-1-3p	PAR-CLIP	22012620
MIRT527067	hsa-miR-98-3p	PAR-CLIP	22012620
MIRT527066	hsa-miR-3924	PAR-CLIP	22012620
MIRT736954	hsa-miR-124-3p	Luciferase reporter assay, Western blotting, qRT-PCR	33946595
MIRT527079	hsa-miR-7-1-3p	PAR-CLIP	22012620
MIRT527078	hsa-miR-7-2-3p	PAR-CLIP	22012620
MIRT527077	hsa-miR-1277-5p	PAR-CLIP	22012620
MIRT527076	hsa-miR-300	PAR-CLIP	22012620
MIRT527075	hsa-miR-381-3p	PAR-CLIP	22012620
MIRT527074	hsa-miR-4666a-3p	PAR-CLIP	22012620
MIRT527073	hsa-miR-105-5p	PAR-CLIP	22012620
MIRT527072	hsa-miR-7853-5p	PAR-CLIP	22012620
MIRT527071	hsa-miR-8064	PAR-CLIP	22012620
MIRT527070	hsa-let-7a-3p	PAR-CLIP	22012620
MIRT527069	hsa-let-7b-3p	PAR-CLIP	22012620
MIRT527068	hsa-let-7f-1-3p	PAR-CLIP	22012620
MIRT527067	hsa-miR-98-3p	PAR-CLIP	22012620
MIRT527066	hsa-miR-3924	PAR-CLIP	22012620
MIRT758384	hsa-miR-4803	CLIP-seq
MIRT758385	hsa-miR-1271	CLIP-seq
MIRT758386	hsa-miR-128	CLIP-seq
MIRT758387	hsa-miR-1297	CLIP-seq
MIRT758388	hsa-miR-147	CLIP-seq
MIRT758389	hsa-miR-182	CLIP-seq
MIRT758390	hsa-miR-218	CLIP-seq
MIRT758391	hsa-miR-26a	CLIP-seq
MIRT758392	hsa-miR-26b	CLIP-seq
MIRT758393	hsa-miR-27a	CLIP-seq
MIRT758394	hsa-miR-27b	CLIP-seq
MIRT758395	hsa-miR-3121-3p	CLIP-seq
MIRT758396	hsa-miR-3130-3p	CLIP-seq
MIRT758397	hsa-miR-3140-3p	CLIP-seq
MIRT758398	hsa-miR-3148	CLIP-seq
MIRT758399	hsa-miR-34a	CLIP-seq
MIRT758400	hsa-miR-34c-5p	CLIP-seq
MIRT758401	hsa-miR-3650	CLIP-seq
MIRT758402	hsa-miR-3911	CLIP-seq
MIRT758403	hsa-miR-4432	CLIP-seq
MIRT758404	hsa-miR-4456	CLIP-seq
MIRT758405	hsa-miR-4465	CLIP-seq
MIRT758406	hsa-miR-449a	CLIP-seq
MIRT758407	hsa-miR-449b	CLIP-seq
MIRT758408	hsa-miR-4680-5p	CLIP-seq
MIRT758409	hsa-miR-4691-3p	CLIP-seq
MIRT758410	hsa-miR-513a-5p	CLIP-seq
MIRT758411	hsa-miR-548u	CLIP-seq
MIRT758412	hsa-miR-582-3p	CLIP-seq
MIRT758413	hsa-miR-636	CLIP-seq
MIRT758414	hsa-miR-644	CLIP-seq
MIRT758415	hsa-miR-873	CLIP-seq
MIRT758416	hsa-miR-96	CLIP-seq
MIRT1923669	hsa-miR-3137	CLIP-seq
MIRT1923670	hsa-miR-4474-5p	CLIP-seq
MIRT2435149	hsa-miR-186	CLIP-seq
MIRT2435150	hsa-miR-365	CLIP-seq
MIRT2435149	hsa-miR-186	CLIP-seq
MIRT2435150	hsa-miR-365	CLIP-seq
MIRT2467059	hsa-miR-3672	CLIP-seq
MIRT2467060	hsa-miR-4251	CLIP-seq
MIRT2467061	hsa-miR-4303	CLIP-seq
MIRT2467062	hsa-miR-4329	CLIP-seq
MIRT758403	hsa-miR-4432	CLIP-seq
MIRT2467063	hsa-miR-4436b-5p	CLIP-seq
MIRT2467064	hsa-miR-4778-5p	CLIP-seq
MIRT2467065	hsa-miR-548aa	CLIP-seq
MIRT758411	hsa-miR-548u	CLIP-seq
MIRT2467066	hsa-miR-633	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NR1H4	Repression	22291955

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001409	Function	Guanine nucleotide transmembrane transporter activity	IDA	15454390
GO:0002576	Process	Platelet degranulation	TAS
GO:0005515	Function	Protein binding	IPI	22411990, 29146910
GO:0005524	Function	ATP binding	IEA
GO:0005730	Component	Nucleolus	IDA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	15297306, 18619525, 23137377, 25173977, 28112518
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006805	Process	Xenobiotic metabolic process	TAS
GO:0006855	Process	Xenobiotic transmembrane transport	TAS
GO:0006869	Process	Lipid transport	IEA
GO:0008559	Function	ABC-type xenobiotic transporter activity	IEA
GO:0015132	Function	Prostaglandin transmembrane transporter activity	IMP	15364914
GO:0015143	Function	Urate transmembrane transporter activity	IMP	15454390
GO:0015216	Function	Purine nucleotide transmembrane transporter activity	IMP	25986174
GO:0015431	Function	ABC-type glutathione S-conjugate transporter activity	IDA	17959747
GO:0015431	Function	ABC-type glutathione S-conjugate transporter activity	IEA
GO:0015432	Function	ABC-type bile acid transporter activity	IMP	16282361
GO:0015562	Function	Efflux transmembrane transporter activity	IMP	25986174
GO:0015721	Process	Bile acid and bile salt transport	IMP	16282361
GO:0015732	Process	Prostaglandin transport	IMP	15364914
GO:0015747	Process	Urate transport	IMP	15454390
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IDA	15297306
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IBA
GO:0016323	Component	Basolateral plasma membrane	IDA	24130369, 25986174, 31791063
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	IDA	11856762, 25986174, 31791063
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016404	Function	15-hydroxyprostaglandin dehydrogenase (NAD+) activity	NAS	7557451
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0031088	Component	Platelet dense granule membrane	IDA	15297306
GO:0031088	Component	Platelet dense granule membrane	TAS
GO:0032310	Process	Prostaglandin secretion	IDA	25173977
GO:0034634	Function	Glutathione transmembrane transporter activity	IMP	11856762
GO:0034775	Process	Glutathione transmembrane transport	IEA
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IDA	15364914, 15454390
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IEA
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	TAS
GO:0042910	Function	Xenobiotic transmembrane transporter activity	IDA	11856762
GO:0042910	Function	Xenobiotic transmembrane transporter activity	IEA
GO:0042910	Function	Xenobiotic transmembrane transporter activity	IMP	25986174
GO:0043225	Function	ATPase-coupled inorganic anion transmembrane transporter activity	IEA
GO:0043225	Function	ATPase-coupled inorganic anion transmembrane transporter activity	TAS
GO:0055085	Process	Transmembrane transport	IBA
GO:0055085	Process	Transmembrane transport	IEA
GO:0055085	Process	Transmembrane transport	TAS
GO:0060271	Process	Cilium assembly	IMP	25173977
GO:0070730	Process	CAMP transport	IDA	11856762
GO:0070730	Process	CAMP transport	IMP	25986174
GO:0071716	Process	Leukotriene transport	IDA	17959747
GO:0071716	Process	Leukotriene transport	IEA
GO:0098591	Component	External side of apical plasma membrane	ISS	18619525
GO:0098656	Process	Monoatomic anion transmembrane transport	IEA
GO:0140115	Process	Export across plasma membrane	IMP	25986174
GO:0140359	Function	ABC-type transporter activity	IBA
GO:0140359	Function	ABC-type transporter activity	IEA
GO:0140359	Function	ABC-type transporter activity	TAS
GO:0150104	Process	Transport across blood-brain barrier	NAS	26590417, 30280653
GO:1903790	Process	Guanine nucleotide transmembrane transport	IEA

Other IDs

• MIM: 605250
• HGNC: 55
• e!Ensembl: ENSG00000125257

Protein

• UniProt ID: O15439
• Protein name: ATP-binding cassette sub-family C member 4 (EC 7.6.2.-) (EC 7.6.2.2) (EC 7.6.2.3) (MRP/cMOAT-related ABC transporter) (Multi-specific organic anion transporter B) (MOAT-B) (Multidrug resistance-associated protein 4)
• Protein function: ATP-dependent transporter of the ATP-binding cassette (ABC) family that actively extrudes physiological compounds and xenobiotics from cells. Transports a range of endogenous molecules that have a key role in cellular communication and signaling
• PDB: 8BJF, 8BWO, 8BWP, 8BWQ, 8BWR, 8I4A, 8I4B, 8I4C, 8IZ7, 8IZ8, 8IZ9, 8IZA, 8J3W, 8J3Z, 8XOK, 8XOL, 8XOM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00664	ABC_membrane	92 → 365	ABC transporter transmembrane region	Family
  PF00005	ABC_tran	428 → 563	ABC transporter	Domain
  PF00664	ABC_membrane	714 → 993	ABC transporter transmembrane region	Family
  PF00005	ABC_tran	1058 → 1205	ABC transporter	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed, with particularly high levels in prostate, but is barely detectable in liver. sinusoidal membrane of hepatocytes.
• Sequence:

  MLPVYQEVKPNPLQDANLCSRVFFWWLNPLFKIGHKRRLEEDDMYSVLPEDRSQHLGEEL
  QGFWDKEVLRAENDAQKPSLTRAIIKCYWKSYLVLGIFTLIEESAKVIQPIFLGKIINYF
  ENYDPMDSVALNTAYAYATVLTFCTLILAILHHLYFYHVQCAGMRLRVAMCHMIYRKALR
  LSNMAMGKTTTGQIVNLLSNDVNKFDQVTVFLHFLWAGPLQAIAVTALLWMEIGISCLAG
  MAVLIILLPLQSCFGKLFSSLRSKTATFTDARIRTMNEVITGIRIIKMYAWEKSFSNLIT
  NLRKKEISKILRSSCLRGMNLASFFSASKIIVFVTFTTYVLLGSVITASRVFVAVTLYGA
  VRLTVTLFFPSAIERVSEAIVSIRRIQTFLLLDEISQRNRQLPSDGKKMVHVQDFTAFWD
  KASETPTLQGLSFTVRPGELLAVVGPVGAGKSSLLSAVLGELAPSHGLVSVHGRIAYVSQ
  QPWVFSGTLRSNILFGKKYEKERYEKVIKACALKKDLQLLEDGDLTVIGDRGTTLSGGQK
  ARVNLARAVYQDADIYLLDDPLSAVDAEVSRHLFELCICQILHEKITILVTHQLQYLKAA
  SQILILKDGKMVQKGTYTEFLKSGIDFGSLLKKDNEESEQPPVPGTPTLRNRTFSESSVW
  SQQSSRPSLKDGALESQDTENVPVTLSEENRSEGKVGFQAYKNYFRAGAHWIVFIFLILL
  NTAAQVAYVLQDWWLSYWANKQSMLNVTVNGGGNVTEKLDLNWYLGIYSGLTVATVLFGI
  ARSLLVFYVLVNSSQTLHNKMFESILKAPVLFFDRNPIGRILNRFSKDIGHLDDLLPLTF
  LDFIQTLLQVVGVVSVAVAVIPWIAIPLVPLGIIFIFLRRYFLETSRDVKRLESTTRSPV
  FSHLSSSLQGLWTIRAYKAEERCQELFDAHQDLHSEAWFLFLTTSRWFAVRLDAICAMFV
  IIVAFGSLILAKTLDAGQVGLALSYALTLMGMFQWCVRQSAEVENMMISVERVIEYTDLE
  KEAPWEYQKRPPPAWPHEGVIIFDNVNFMYSPGGPLVLKHLTALIKSQEKVGIVGRTGAG
  KSSLISALFRLSEPEGKIWIDKILTTEIGLHDLRKKMSIIPQEPVLFTGTMRKNLDPFNE
  HTDEELWNALQEVQLKETIEDLPGKMDTELAESGSNFSVGQRQLVCLARAILRKNQILII
  DEATANVDPRTDELIQKKIREKFAHCTVLTIAHRLNTIIDSDKIMVLDSGRLKEYDEPYV
  LLQNKESLFYKMVQQLGKAEAAALTETAKQVYFKRNYPHIGHTDHMVTNTSNGQPSTLTI
  FETAL

• Sequence length: 1325

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
ABCC4-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COGNITION DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLICATIONS OF DIABETES MELLITUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DELIRIUM, DEMENTIA, AMNESTIC, COGNITIVE DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES COMPLICATIONS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TIETZE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	25403995, 28550450		★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	27761583		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of rectum	Adenocarcinoma Of Rectum	BEFREE	23575399		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	25403995		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	25677905	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	31043460		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	28659663		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	28659663	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	31697849		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	30761271, 30880686		★☆☆☆☆ Found in Text Mining only
Beta ketothiolase deficiency	Beta-ketothiolase deficiency	Pubtator	28583112	Associate	★☆☆☆☆ Found in Text Mining only
Biliary cirrhosis	Biliary cirrhosis	LHGDN	17696930		★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	31826245	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	28583112	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19696793, 25433169, 28029661, 30807260		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	33023375, 35461219	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	19759907	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	11477564, 20200426, 24909729		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	24024181	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	24024181		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	29788724		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	29788724		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	23222202, 25403995, 28418010, 28550450, 28710036, 30598629		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	GWASDB_DG	23829686		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	23480753	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	15004017, 17404579, 21359593, 28646179, 31637886		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholelithiasis	Pubtator	24154606, 25798860, 33582321	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis, progressive familial intrahepatic 1	Intrahepatic cholestasis	BEFREE	15841457, 17295178		★☆☆☆☆ Found in Text Mining only
Chronic Pain	Chronic pain	Pubtator	33685280	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	CTD_human_DG	29382564		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colitis Ulcerative	Ulcerative colitis	Pubtator	27037036	Stimulate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	18690847		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	22294766		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24694755, 28765596		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	22294766		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24694755, 28765596	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	30363999	Associate	★☆☆☆☆ Found in Text Mining only
De Toni-Debre-Fanconi Syndrome	Fanconi Syndrome	BEFREE	25485598		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29534510		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29534510		★☆☆☆☆ Found in Text Mining only
End Stage Liver Disease	End Stage Liver Disease	BEFREE	23087145		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	30761271, 31410201		★☆☆☆☆ Found in Text Mining only
Endometrial Diseases	Endometrial Diseases	BEFREE	31410201		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	23472950	Associate	★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	CTD_human_DG	25446850		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	23472950, 30556891		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	Pubtator	23472950	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	CTD_human_DG	25446850		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epithelial ovarian cancer	Ovarian cancer	BEFREE	24024181		★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	BEFREE	28258955		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	36474162	Associate	★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	25485598		★☆☆☆☆ Found in Text Mining only
Fanconi Syndrome	Fanconi Syndrome	BEFREE	25485598		★☆☆☆☆ Found in Text Mining only
Fanconi Syndrome	Fanconi syndrome	Pubtator	25485598, 36314476	Associate	★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	31669256		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	25677905	Associate	★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	30643796	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	25339146		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	11857404		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	11857404		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	31138033		★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	20460825	Associate	★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular degeneration	Pubtator	34117631	Associate	★☆☆☆☆ Found in Text Mining only
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	LHGDN	15297306		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	25982326		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	25982326	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	21670499		★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	Pubtator	23665398	Inhibit	★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	28371506		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	21670499		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	20393862		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	23480753		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	20393862		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	26807589, 37099271	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	27206740	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	21205825, 31826245		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	21205825, 26497925, 31826245	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	32333821	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	25301721, 29146910		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	20393862, 27045542, 27402191, 28418010		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	12883481, 21615622, 31637886		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	20460825	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	25798860	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	12883481, 31637886		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	17878487		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	20200426	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19696793, 25433169, 28029661, 30807260		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	30761271, 31410201		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	11477564, 20200426, 24909729		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	20530583, 21989485		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17003774		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21266046, 26459268, 30197753, 30880686		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24606721, 25572969		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24510239, 25433169, 25640269, 25675329, 30321196, 31410201		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	29788724		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	11595715		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	17003774		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	21571869, 30363999		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	21571869, 30363999	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11477564, 15688370, 23575399, 24024181, 25301721, 25572969, 28011504, 28029661, 28735070, 30807260, 30848103		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	15827327, 25640269, 28735070		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	37545226	Associate	★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Neuromyelitis Optica	BEFREE	27941536		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	25677905, 27045542, 30927276	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	27045542, 27402191		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	GWASCAT_DG	23478653		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	GWASDB_DG	23478653		★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal Syndrome	BEFREE	25485598		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	25879330		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	25879330	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	15688370, 21989485		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	31043460		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	20530583, 20922799, 25790437	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	25586538	Associate	★☆☆☆☆ Found in Text Mining only
Platelet Storage Pool Deficiency	Platelet Storage Pool Deficiency	BEFREE	20133816		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	28550450		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	28550450		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	17696930		★☆☆☆☆ Found in Text Mining only
Progressive intrahepatic cholestasis (disorder)	Intrahepatic Cholestasis	BEFREE	15841457, 17295178		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	21266046, 26459268, 30197753, 30880686		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	17003774, 18615486		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17003774		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21266046, 23503867, 26459268, 30880686, 37270661	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rectal Carcinoma	Rectal Carcinoma	BEFREE	23575399, 28011504		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	27809359		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	30060118		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	30060118	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	23897011		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	29441893		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Small cell carcinoma of lung	Lung carcinoma	BEFREE	10100721, 12792791		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	LHGDN	12792791		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	24510239		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	19430297	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	25572969		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31852133, 33081378, 33440718	Associate	★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	26499190, 30643796		★☆☆☆☆ Found in Text Mining only
Thiopurine S methyltranferase deficiency	Thiopurine Methyltransferase Deficiency	BEFREE	28623449		★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	19515727	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	28029661		★☆☆☆☆ Found in Text Mining only
Urinary Incontinence Stress	Stress urinary incontinence	Pubtator	33836021	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Diseases	Uterine polyp	Pubtator	26240828	Associate	★☆☆☆☆ Found in Text Mining only