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

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID	4363
Gene name	ATP binding cassette subfamily C member 1 (ABCC1 blood group)
Gene symbol	ABCC1
Synonyms (NCBI Gene)	ABC29ABCCDFNA77GS-XMRPMRP1
Chromosome	16
Chromosome location	16p13.11
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, MD

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs60782127	G>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant

202

Show/Hide all (202)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004494	hsa-miR-134-5p	qRT-PCRWestern blotNorthern blot	20371173
MIRT003199	hsa-miR-7-5p	Luciferase reporter assayWestern blot	20099276
MIRT003199	hsa-miR-7-5p	Luciferase reporter assayWestern blot	20099276
MIRT003198	hsa-miR-345-5p	Luciferase reporter assayWestern blot	20099276
MIRT003198	hsa-miR-345-5p	Luciferase reporter assayWestern blot	20099276
MIRT021440	hsa-miR-9-5p	Microarray	17612493
MIRT024051	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT003199	hsa-miR-7-5p	Microarray	19073608
MIRT027818	hsa-miR-98-5p	Microarray	19088304
MIRT032483	hsa-let-7b-5p	Proteomics	18668040
MIRT051224	hsa-miR-16-5p	CLASH	23622248
MIRT046316	hsa-miR-23b-3p	CLASH	23622248
MIRT046005	hsa-miR-125b-5p	CLASH	23622248
MIRT042744	hsa-miR-339-5p	CLASH	23622248
MIRT040354	hsa-miR-615-3p	CLASH	23622248
MIRT053213	hsa-miR-1291	Luciferase reporter assayWestern blot	23686318
MIRT053213	hsa-miR-1291	Luciferase reporter assayWestern blot	23686318
MIRT053213	hsa-miR-1291	Luciferase reporter assayWestern blot	23686318
MIRT053213	hsa-miR-1291	Luciferase reporter assayWestern blot	23686318
MIRT706013	hsa-miR-224-5p	HITS-CLIP	23313552
MIRT706012	hsa-miR-199b-5p	HITS-CLIP	23313552
MIRT706011	hsa-miR-199a-5p	HITS-CLIP	23313552
MIRT706010	hsa-miR-145-5p	HITS-CLIP	23313552
MIRT706008	hsa-miR-5195-3p	HITS-CLIP	23313552
MIRT706009	hsa-miR-5582-3p	HITS-CLIP	23313552
MIRT706007	hsa-miR-1323	HITS-CLIP	23313552
MIRT706006	hsa-miR-548o-3p	HITS-CLIP	23313552
MIRT706005	hsa-miR-1825	HITS-CLIP	23313552
MIRT706004	hsa-miR-361-3p	HITS-CLIP	23313552
MIRT706003	hsa-miR-520d-5p	HITS-CLIP	23313552
MIRT706002	hsa-miR-524-5p	HITS-CLIP	23313552
MIRT706001	hsa-miR-3180-5p	HITS-CLIP	23313552
MIRT706010	hsa-miR-145-5p	Luciferase reporter assay	25354783
MIRT021440	hsa-miR-9-5p	Luciferase reporter assayqRT-PCRWestern blot	28098912
MIRT021440	hsa-miR-9-5p	Luciferase reporter assayqRT-PCRWestern blot	28098912
MIRT003199	hsa-miR-7-5p	ImmunohistochemistryLuciferase reporter assayqRT-PCR	26108539
MIRT734736	hsa-miR-139-5p	Luciferase reporter assayWestern blottingqRT-PCR	31750616
MIRT706013	hsa-miR-224-5p	HITS-CLIP	23313552
MIRT706012	hsa-miR-199b-5p	HITS-CLIP	23313552
MIRT706011	hsa-miR-199a-5p	HITS-CLIP	23313552
MIRT706010	hsa-miR-145-5p	HITS-CLIP	23313552
MIRT706008	hsa-miR-5195-3p	HITS-CLIP	23313552
MIRT706009	hsa-miR-5582-3p	HITS-CLIP	23313552
MIRT706007	hsa-miR-1323	HITS-CLIP	23313552
MIRT706006	hsa-miR-548o-3p	HITS-CLIP	23313552
MIRT706005	hsa-miR-1825	HITS-CLIP	23313552
MIRT706004	hsa-miR-361-3p	HITS-CLIP	23313552
MIRT706003	hsa-miR-520d-5p	HITS-CLIP	23313552
MIRT706002	hsa-miR-524-5p	HITS-CLIP	23313552
MIRT706001	hsa-miR-3180-5p	HITS-CLIP	23313552
MIRT755758	hsa-miR-1254	Western blottingqRT-PCR	37190912
MIRT758296	hsa-miR-145	CLIP-seq
MIRT758297	hsa-miR-149	CLIP-seq
MIRT758298	hsa-miR-2116	CLIP-seq
MIRT758299	hsa-miR-217	CLIP-seq
MIRT758300	hsa-miR-219-5p	CLIP-seq
MIRT758301	hsa-miR-224	CLIP-seq
MIRT758302	hsa-miR-3064-5p	CLIP-seq
MIRT758303	hsa-miR-409-3p	CLIP-seq
MIRT758304	hsa-miR-4273	CLIP-seq
MIRT758305	hsa-miR-4297	CLIP-seq
MIRT758306	hsa-miR-4310	CLIP-seq
MIRT758307	hsa-miR-4418	CLIP-seq
MIRT758308	hsa-miR-4445	CLIP-seq
MIRT758309	hsa-miR-4661-3p	CLIP-seq
MIRT758310	hsa-miR-4677-5p	CLIP-seq
MIRT758311	hsa-miR-4782-3p	CLIP-seq
MIRT758312	hsa-miR-4794	CLIP-seq
MIRT758313	hsa-miR-508-3p	CLIP-seq
MIRT758314	hsa-miR-509-3-5p	CLIP-seq
MIRT758315	hsa-miR-509-5p	CLIP-seq
MIRT758316	hsa-miR-600	CLIP-seq
MIRT758317	hsa-miR-604	CLIP-seq
MIRT758318	hsa-miR-647	CLIP-seq
MIRT758319	hsa-miR-653	CLIP-seq
MIRT758320	hsa-miR-1231	CLIP-seq
MIRT758321	hsa-miR-1265	CLIP-seq
MIRT758322	hsa-miR-1912	CLIP-seq
MIRT758323	hsa-miR-2052	CLIP-seq
MIRT758324	hsa-miR-3173-5p	CLIP-seq
MIRT758325	hsa-miR-3178	CLIP-seq
MIRT758326	hsa-miR-323b-5p	CLIP-seq
MIRT758327	hsa-miR-326	CLIP-seq
MIRT758328	hsa-miR-330-5p	CLIP-seq
MIRT758329	hsa-miR-4256	CLIP-seq
MIRT758330	hsa-miR-4277	CLIP-seq
MIRT758331	hsa-miR-4288	CLIP-seq
MIRT758332	hsa-miR-4292	CLIP-seq
MIRT758333	hsa-miR-4307	CLIP-seq
MIRT758334	hsa-miR-4308	CLIP-seq
MIRT758335	hsa-miR-4486	CLIP-seq
MIRT758336	hsa-miR-4720-5p	CLIP-seq
MIRT758337	hsa-miR-4747-3p	CLIP-seq
MIRT758338	hsa-miR-4799-3p	CLIP-seq
MIRT758339	hsa-miR-629	CLIP-seq
MIRT758340	hsa-miR-632	CLIP-seq
MIRT758341	hsa-miR-659	CLIP-seq
MIRT758342	hsa-miR-877	CLIP-seq
MIRT1923652	hsa-miR-1292	CLIP-seq
MIRT1923653	hsa-miR-141	CLIP-seq
MIRT1923654	hsa-miR-200a	CLIP-seq
MIRT758325	hsa-miR-3178	CLIP-seq
MIRT1923655	hsa-miR-345	CLIP-seq
MIRT758332	hsa-miR-4292	CLIP-seq
MIRT758334	hsa-miR-4308	CLIP-seq
MIRT1923656	hsa-miR-4471	CLIP-seq
MIRT758335	hsa-miR-4486	CLIP-seq
MIRT1923657	hsa-miR-4640-5p	CLIP-seq
MIRT1923658	hsa-miR-4726-5p	CLIP-seq
MIRT1923659	hsa-miR-4755-3p	CLIP-seq
MIRT1923660	hsa-miR-541	CLIP-seq
MIRT1923661	hsa-miR-654-5p	CLIP-seq
MIRT758318	hsa-miR-647	CLIP-seq
MIRT2165168	hsa-miR-101	CLIP-seq
MIRT1923653	hsa-miR-141	CLIP-seq
MIRT1923654	hsa-miR-200a	CLIP-seq
MIRT2165169	hsa-miR-29a	CLIP-seq
MIRT2165170	hsa-miR-29b	CLIP-seq
MIRT2165171	hsa-miR-29c	CLIP-seq
MIRT2165172	hsa-miR-3605-3p	CLIP-seq
MIRT2165173	hsa-miR-3918	CLIP-seq
MIRT2165174	hsa-miR-4529-5p	CLIP-seq
MIRT2165175	hsa-miR-4645-5p	CLIP-seq
MIRT2165176	hsa-miR-4673	CLIP-seq
MIRT2165177	hsa-miR-4699-3p	CLIP-seq
MIRT2165178	hsa-miR-4705	CLIP-seq
MIRT2165179	hsa-miR-4707-5p	CLIP-seq
MIRT2165180	hsa-miR-4713-5p	CLIP-seq
MIRT2165181	hsa-miR-4733-3p	CLIP-seq
MIRT2165182	hsa-miR-4747-5p	CLIP-seq
MIRT1923660	hsa-miR-541	CLIP-seq
MIRT1923661	hsa-miR-654-5p	CLIP-seq
MIRT2165183	hsa-miR-889	CLIP-seq
MIRT2383744	hsa-miR-1207-5p	CLIP-seq
MIRT2383745	hsa-miR-1343	CLIP-seq
MIRT2383746	hsa-miR-1909	CLIP-seq
MIRT2383747	hsa-miR-3144-5p	CLIP-seq
MIRT758325	hsa-miR-3178	CLIP-seq
MIRT2383748	hsa-miR-3188	CLIP-seq
MIRT1923655	hsa-miR-345	CLIP-seq
MIRT758332	hsa-miR-4292	CLIP-seq
MIRT758334	hsa-miR-4308	CLIP-seq
MIRT758335	hsa-miR-4486	CLIP-seq
MIRT2383749	hsa-miR-4514	CLIP-seq
MIRT2165175	hsa-miR-4645-5p	CLIP-seq
MIRT2165176	hsa-miR-4673	CLIP-seq
MIRT2383750	hsa-miR-4692	CLIP-seq
MIRT2383751	hsa-miR-4763-3p	CLIP-seq
MIRT2383752	hsa-miR-940	CLIP-seq
MIRT2435146	hsa-miR-328	CLIP-seq
MIRT2435147	hsa-miR-331-3p	CLIP-seq
MIRT2435148	hsa-miR-582-5p	CLIP-seq
MIRT2467031	hsa-miR-1	CLIP-seq
MIRT2165168	hsa-miR-101	CLIP-seq
MIRT2467032	hsa-miR-1229	CLIP-seq
MIRT2467033	hsa-miR-1297	CLIP-seq
MIRT2383745	hsa-miR-1343	CLIP-seq
MIRT2467034	hsa-miR-146a	CLIP-seq
MIRT2467035	hsa-miR-146b-5p	CLIP-seq
MIRT2467036	hsa-miR-206	CLIP-seq
MIRT2467037	hsa-miR-2467-3p	CLIP-seq
MIRT2467038	hsa-miR-26a	CLIP-seq
MIRT2467039	hsa-miR-26b	CLIP-seq
MIRT2467040	hsa-miR-3074-5p	CLIP-seq
MIRT2467041	hsa-miR-3136-3p	CLIP-seq
MIRT2467042	hsa-miR-3176	CLIP-seq
MIRT2435146	hsa-miR-328	CLIP-seq
MIRT2435147	hsa-miR-331-3p	CLIP-seq
MIRT2467043	hsa-miR-3672	CLIP-seq
MIRT2467044	hsa-miR-3678-3p	CLIP-seq
MIRT2467045	hsa-miR-3682-5p	CLIP-seq
MIRT2467046	hsa-miR-3922-3p	CLIP-seq
MIRT2467047	hsa-miR-3938	CLIP-seq
MIRT2467048	hsa-miR-4459	CLIP-seq
MIRT2467049	hsa-miR-4465	CLIP-seq
MIRT2467050	hsa-miR-4540	CLIP-seq
MIRT2467051	hsa-miR-4646-5p	CLIP-seq
MIRT2467052	hsa-miR-4649-5p	CLIP-seq
MIRT2467053	hsa-miR-4690-3p	CLIP-seq
MIRT2467054	hsa-miR-485-5p	CLIP-seq
MIRT2467055	hsa-miR-548ad	CLIP-seq
MIRT2435148	hsa-miR-582-5p	CLIP-seq
MIRT2467056	hsa-miR-607	CLIP-seq
MIRT2467057	hsa-miR-613	CLIP-seq
MIRT2467058	hsa-miR-665	CLIP-seq
MIRT2467031	hsa-miR-1	CLIP-seq
MIRT2467032	hsa-miR-1229	CLIP-seq
MIRT2383745	hsa-miR-1343	CLIP-seq
MIRT2467036	hsa-miR-206	CLIP-seq
MIRT2467040	hsa-miR-3074-5p	CLIP-seq
MIRT2435146	hsa-miR-328	CLIP-seq
MIRT2435147	hsa-miR-331-3p	CLIP-seq
MIRT2467045	hsa-miR-3682-5p	CLIP-seq
MIRT2467048	hsa-miR-4459	CLIP-seq
MIRT2467050	hsa-miR-4540	CLIP-seq
MIRT2467051	hsa-miR-4646-5p	CLIP-seq
MIRT2467052	hsa-miR-4649-5p	CLIP-seq
MIRT2467053	hsa-miR-4690-3p	CLIP-seq
MIRT2435148	hsa-miR-582-5p	CLIP-seq
MIRT2467056	hsa-miR-607	CLIP-seq
MIRT2467057	hsa-miR-613	CLIP-seq
MIRT2467058	hsa-miR-665	CLIP-seq

Show/Hide all (3)

Transcription factor	Regulation	Reference
MYCN	Activation	10348353;14737110;7923112
MYCN	Unknown	9516823
SP1	Repression	23765166

Show/Hide all (86)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	17050692, 23137377, 28112518
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	1360704
GO:0006691	Process	Leukotriene metabolic process	TAS
GO:0006805	Process	Xenobiotic metabolic process	IEA
GO:0006805	Process	Xenobiotic metabolic process	TAS
GO:0006869	Process	Lipid transport	IEA
GO:0008559	Function	ABC-type xenobiotic transporter activity	IBA
GO:0008559	Function	ABC-type xenobiotic transporter activity	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009410	Process	Response to xenobiotic stimulus	ISS
GO:0009410	Process	Response to xenobiotic stimulus	TAS	1360704
GO:0009925	Component	Basal plasma membrane	IDA	18619525
GO:0009925	Component	Basal plasma membrane	IEA
GO:0015420	Function	ABC-type vitamin B12 transporter activity	EXP	21511966, 22547309
GO:0015420	Function	ABC-type vitamin B12 transporter activity	IEA
GO:0015431	Function	ABC-type glutathione S-conjugate transporter activity	IEA
GO:0015431	Function	ABC-type glutathione S-conjugate transporter activity	ISS
GO:0015562	Function	Efflux transmembrane transporter activity	IEA
GO:0015562	Function	Efflux transmembrane transporter activity	IMP	25986174
GO:0015562	Function	Efflux transmembrane transporter activity	ISS	26200696
GO:0015889	Process	Cobalamin transport	IEA
GO:0015889	Process	Cobalamin transport	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	1360704
GO:0016323	Component	Basolateral plasma membrane	IBA
GO:0016323	Component	Basolateral plasma membrane	IDA	24130369, 31791063
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	ISS	18619525
GO:0016324	Component	Apical plasma membrane	IDA	31791063
GO:0016328	Component	Lateral plasma membrane	IDA	31791063
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0030148	Process	Sphingolipid biosynthetic process	TAS
GO:0034040	Function	ATPase-coupled lipid transmembrane transporter activity	IMP	17050692
GO:0034599	Process	Cellular response to oxidative stress	TAS
GO:0034634	Function	Glutathione transmembrane transporter activity	IBA
GO:0034634	Function	Glutathione transmembrane transporter activity	IEA
GO:0034634	Function	Glutathione transmembrane transporter activity	ISS	26200696
GO:0034775	Process	Glutathione transmembrane transport	IBA
GO:0042167	Process	Heme catabolic process	TAS
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	TAS
GO:0042908	Process	Xenobiotic transport	IBA
GO:0042908	Process	Xenobiotic transport	IEA
GO:0042908	Process	Xenobiotic transport	ISS
GO:0042910	Function	Xenobiotic transmembrane transporter activity	IDA	7961706, 9281595
GO:0042910	Function	Xenobiotic transmembrane transporter activity	IEA
GO:0042910	Function	Xenobiotic transmembrane transporter activity	IMP	25986174
GO:0042910	Function	Xenobiotic transmembrane transporter activity	ISS	26200696
GO:0043225	Function	ATPase-coupled inorganic anion transmembrane transporter activity	IEA
GO:0043225	Function	ATPase-coupled inorganic anion transmembrane transporter activity	TAS
GO:0045332	Process	Phospholipid translocation	IMP	17050692
GO:0046624	Function	Sphingolipid transporter activity	TAS
GO:0046942	Process	Carboxylic acid transport	IEA
GO:0046943	Function	Carboxylic acid transmembrane transporter activity	IBA
GO:0046943	Function	Carboxylic acid transmembrane transporter activity	IMP	25986174
GO:0050729	Process	Positive regulation of inflammatory response	IEA
GO:0050729	Process	Positive regulation of inflammatory response	ISS
GO:0055085	Process	Transmembrane transport	IEA
GO:0055085	Process	Transmembrane transport	TAS
GO:0060326	Process	Cell chemotaxis	ISS	17050692
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0070633	Process	Transepithelial transport	IMP	25986174
GO:0070729	Process	Cyclic nucleotide transport	IEA
GO:0070729	Process	Cyclic nucleotide transport	IMP	36070769
GO:0071716	Process	Leukotriene transport	IEA
GO:0071716	Process	Leukotriene transport	ISS
GO:0098656	Process	Monoatomic anion transmembrane transport	IEA
GO:0099039	Process	Sphingolipid translocation	IMP	17050692
GO:0140115	Process	Export across plasma membrane	IEA
GO:0140115	Process	Export across plasma membrane	IMP	25986174
GO:0140115	Process	Export across plasma membrane	ISS	26200696
GO:0140359	Function	ABC-type transporter activity	EXP	7961706
GO:0140359	Function	ABC-type transporter activity	IDA	7961706, 9281595
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:1904646	Process	Cellular response to amyloid-beta	IEA
GO:1904646	Process	Cellular response to amyloid-beta	ISS	26200696
GO:1905039	Process	Carboxylic acid transmembrane transport	IMP	25986174
GO:1990962	Process	Xenobiotic transport across blood-brain barrier	IMP	25986174

MIM	HGNC	e!Ensembl
158343	51	ENSG00000103222

P33527

Protein name

Multidrug resistance-associated protein 1 (EC 7.6.2.2) (ATP-binding cassette sub-family C member 1) (Glutathione-S-conjugate-translocating ATPase ABCC1) (EC 7.6.2.3) (Leukotriene C(4) transporter) (LTC4 transporter)

Protein function

Mediates export of organic anions and drugs from the cytoplasm (PubMed:10064732, PubMed:11114332, PubMed:16230346, PubMed:7961706, PubMed:9281595). Mediates ATP-dependent transport of glutathione and glutathione conjugates, leukotriene C4, estra

PDB

2CBZ , 4C3Z , 8VT4 , 8VUX , 8VVC

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00664	ABC_membrane	325 → 596	ABC transporter transmembrane region	Family
PF00005	ABC_tran	661 → 796	ABC transporter	Domain
PF00664	ABC_membrane	975 → 1244	ABC transporter transmembrane region	Family
PF00005	ABC_tran	1310 → 1458	ABC transporter	Domain

Tissue specificity

TISSUE SPECIFICITY: Lung, testis and peripheral blood mononuclear cells.

Sequence

MALRGFCSADGSDPLWDWNVTWNTSNPDFTKCFQNTVLVWVPCFYLWACFPFYFLYLSRH
DRGYIQMTPLNKTKTALGFLLWIVCWADLFYSFWERSRGIFLAPVFLVSPTLLGITMLLA
TFLIQLERRKGVQSSGIMLTFWLVALVCALAILRSKIMTALKEDAQVDLFRDITFYVYFS
LLLIQLVLSCFSDRSPLFSETIHDPNPCPESSASFLSRITFWWITGLIVRGYRQPLEGSD
LWSLNKEDTSEQVVPVLVKNWKKECAKTRKQPVKVVYSSKDPAQPKESSKVDANEEVEAL
IVKSPQKEWNPSLFKVLYKTFGPYFLMSFFFKAIHDLMMFSGPQILKLLIKFVNDTKAPD
WQGYFYTVLLFVTACLQTLVLHQYFHICFVSGMRIKTAVIGAVYRKALVITNSARKSSTV
GEIVNLMSVDAQRFMDLATYINMIWSAPLQVILALYLLWLNLGPSVLAGVAVMVLMVPVN
AVMAMKTKTYQVAHMKSKDNRIKLMNEILNGIKVLKLYAWELAFKDKVLAIRQEELKVLK
KSAYLSAVGTFTWVCTPFLVALCTFAVYVTIDENNILDAQTAFVSLALFNILRFPLNILP
MVISSIVQASVSLKRLRIFLSHEELEPDSIERRPVKDGGGTNSITVRNATFTWARSDPPT
LNGITFSIPEGALVAVVGQVGCGKSSLLSALLAEMDKVEGHVAIKGSVAYVPQQAWIQND
SLRENILFGCQLEEPYYRSVIQACALLPDLEILPSGDRTEIGEKGVNLSGGQKQRVSLAR
AVYSNADIYLFDDPLSAVDAHVGKHIFENVIGPKGMLKNKTRILVTHSMSYLPQVDVIIV
MSGGKISEMGSYQELLARDGAFAEFLRTYASTEQEQDAEENGVTGVSGPGKEAKQMENGM
LVTDSAGKQLQRQLSSSSSYSGDISRHHNSTAELQKAEAKKEETWKLMEADKAQTGQVKL
SVYWDYMKAIGLFISFLSIFLFMCNHVSALASNYWLSLWTDDPIVNGTQEHTKVRLSVYG
ALGISQGIAVFGYSMAVSIGGILASRCLHVDLLHSILRSPMSFFERTPSGNLVNRFSKEL
DTVDSMIPEVIKMFMGSLFNVIGACIVILLATPIAAIIIPPLGLIYFFVQRFYVASSRQL
KRLESVSRSPVYSHFNETLLGVSVIRAFEEQERFIHQSDLKVDENQKAYYPSIVANRWLA
VRLECVGNCIVLFAALFAVISRHSLSAGLVGLSVSYSLQVTTYLNWLVRMSSEMETNIVA
VERLKEYSETEKEAPWQIQETAPPSSWPQVGRVEFRNYCLRYREDLDFVLRHINVTINGG
EKVGIVGRTGAGKSSLTLGLFRINESAEGEIIIDGINIAKIGLHDLRFKITIIPQDPVLF
SGSLRMNLDPFSQYSDEEVWTSLELAHLKDFVSALPDKLDHECAEGGENLSVGQRQLVCL
ARALLRKTKILVLDEATAAVDLETDDLIQSTIRTQFEDCTVLTIAHRLNTIMDYTRVIVL
DKGEIQEYGAPSDLLQQRGLFYSMAKDAGLV

Sequence length

1531

Interactions

View interactions

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hearing loss, autosomal dominant 77	Pathogenic	rs199797323	RCV001194461	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (29)

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.
ABCC1-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atorvastatin response	drug response	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS	—	ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE AIRWAY DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 77	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance; association	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-NEOPLASTIC PERIPHERAL NERVOUS SYSTEM DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NERVOUS SYSTEM DISEASES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA OF HEAD AND NECK	—	CTD	★★★★★ ★★☆☆☆ 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
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (294)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acidosis Lactic	Lactic acidosis	Pubtator	33097055	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	29990841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	16614510, 18711657, 19065772, 22037714, 22664042, 22826468, 7808005		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	11323101, 11849207, 15543372, 18711657, 19065772, 21929509, 22037714, 24145140, 30535484, 31613845, 7528566, 7808005, 7911548, 7914748		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	10214864, 10419897, 11986944, 19288261, 7528566, 9815827		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	31032633, 7528566		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	15070089, 15856298, 23378758, 30132569, 7669560		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	17203221, 18439156		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	12115804		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	15070089, 30941955		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	19107762, 29274627, 7903701, 8603824		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Endometrioid	Endometrial Cancer	BEFREE	11505398		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	11774239, 11929704		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	29805510		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenomatous Polyps	Adenomatous Polyposis	BEFREE	10533474, 31669510		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	11323101, 18711657, 22037714, 24145140, 30535484, 31613845, 7914748		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	10214864, 10419897, 11986944, 17340137, 19240178, 24030729, 8558937, 9616142		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	18473730, 29869738		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	11595704		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	32878879	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	21881209		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplastic astrocytoma	Anaplastic Astrocytoma	BEFREE	11206006		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	25881102	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	25890497, 26606261		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28721160		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	19248091	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	29749828, 30655622		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	30655622, 34648729	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	11206006, 12125964, 18462887		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	14655754	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28721160		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	1717826	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	21956908, 30021380		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal dominant non-syndromic sensorineural deafness type DFNA	Non-Syndromic Sensorineural Deafness	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	11466205		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	25468484, 26376998, 28587395, 31819366		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	7803281		★★★★★ ★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	18226047, 30018456		★★★★★ ★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	30018456	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	32627186	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	27485374, 27748815, 31115606, 8980253		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	12406906, 8656699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases, Developmental	Bone Disease	BEFREE	17701897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Injuries Traumatic	Brain injuries	Pubtator	23896815	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Injuries Traumatic	Brain injuries	Pubtator	25891836	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	10678554, 11223551, 12125964		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	11223551, 26617887	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12115804, 12966509, 14607338, 15015586, 15041478, 15113040, 15517899, 16047355, 16132579, 18202791, 19129072, 19235593, 19883630, 20110355, 21529984 View all (24 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	25078270		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	10638986, 11355955, 15047700, 17047076, 19235593, 20110355, 23288347, 23396606, 23481629, 23658771, 25078270, 26362310, 27689338, 30486550, 30570851, 31071369, 38057687, 39596349 View all (3 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	22083453		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cancer of Nasopharynx	Nasopharyngeal Cancer	BEFREE	10762632		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	10562814, 27709738	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10361853, 11712788, 11774239, 12966509, 15548710, 15810950, 18226047, 23542236, 8603824, 8766528, 8980253		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	12428063	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	20458768, 21182225, 25310259, 27081035, 28414325, 29602203, 35203285, 35363194, 35592684, 37140311	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Mucoepidermoid	Mucoepidermoid carcinoma	Pubtator	24013781, 26829120	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	27485374, 27748815, 31115606		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	10728601, 11477564, 15254668, 16170027, 17308116, 17895794, 19107762, 21455636, 21736601, 27810353, 29035832, 29072615, 30486290, 31302132, 8467491 View all (7 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	24024181, 30521500, 37838788	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	25199538	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	19393132, 19552816	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	26108539	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	11505398		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	24024181, 31289467		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cartilage-hair hypoplasia	Cartilage-Hair Hypoplasia	BEFREE	12107819, 18164267, 21053045, 21956908, 24009312, 28115465		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	11323101, 15543372, 17875533, 18711657, 19969624, 22037714, 22901208, 24145140, 30535484, 31613845, 7914748		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	11986944, 17340137, 8558937		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	18473730, 29869738		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	15884115, 23480753	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	18226047		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	BEFREE	21143841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	21143841	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	12724138, 27983917		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	11908721, 7803281, 7911548, 9722297, 9815925		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	19687781, 20487524, 31747319		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognition Disorders	Cognition disorder	Pubtator	31448785	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	11097346, 11802216, 12370750, 12625868, 15517878, 24225025, 30834416, 9045962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	17541169, 30941955	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	18690847		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10533474, 19636555, 28454422, 28881788, 30279206, 30639170, 30941955, 31504073, 31669510, 8603824, 8705999, 9010028		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	22294766		★★★★★ ★☆☆☆☆ 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	24225025, 24695690, 25885226, 28968471, 30279206, 30834416, 30941955, 31698983, 32789424, 37658050, 40362377	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital absence of vas deferens	Absent vas deferens	BEFREE	11466205		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	16193381		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conjugated hyperbilirubinemia	Conjugated hyperbilirubinemia	BEFREE	23588305		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29445446, 8980253, 9700723		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	11358378, 12930913, 16167518, 16464259, 18230544, 21435954, 28800122		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	16464259, 21435954, 28800122	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	26908299		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	26908299		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	28339079		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	11505398, 11712788, 8847137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	39258697	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	17429576		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	11879359, 12558585	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	LHGDN	14984901		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	16193381, 29318116, 29762840		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	22941407, 8637212		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	22941407, 8637212		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ewings sarcoma-primitive neuroectodermal tumor (PNET)	Ewing sarcoma	BEFREE	16049968		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	28098912		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fleck corneal dystrophy	Fleck Corneal Dystrophy	BEFREE	28273590		★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal Cortical Dysplasia	Focal cortical dysplasia	Pubtator	17482840	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	26852750, 31272718		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	31669256		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	19850704		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	23999597	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	LHGDN	16278376		★★★★★ ★☆☆☆☆ Found in Text Mining only
Genital Neoplasms, Female	Genital Neoplasms, Female	BEFREE	11712788		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	11045339		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	10639573, 34895074, 35803910	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	11206006, 11857404, 12125964, 12958161, 18443953, 18462887, 18946672, 19019175, 20388502, 21544552, 26224160, 28849227, 29653579, 29876787, 30208561		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	11857404, 12958161, 18443953, 18462887, 18946672, 19019175, 20388502, 21544552, 22833450, 26224160, 28849227, 29653579, 29876787, 30208561		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	10832087, 11206006, 16193381, 24815474, 27662839, 30208561, 31129471, 31190861, 7640227, 9345268		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	11223551, 14655754, 15460906, 22906272, 23637844, 32916774, 7640227	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hairy Cell Leukemia	Hairy Cell Leukemia	BEFREE	7803281		★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head And Neck Neoplasms	LHGDN	17203221		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	CTD_human_DG	16330681		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hematologic Diseases	Hematologic disease	Pubtator	23396606	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	15560070, 9815925		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	8062263		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	23744354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	15560070		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	20339089, 22871336	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	26908299		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	Pubtator	33502730	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperoxaluria	Hyperoxaluria	BEFREE	28577929		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	BEFREE	28806349		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	Pubtator	28806349	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CTD_human_DG	17272743		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoxia	Hypoxia	Pubtator	16949254	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	26846577, 36012307	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	22504834, 24145283		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	23480753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	GWASCAT_DG	26708676		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	31097431		★★★★★ ★☆☆☆☆ Found in Text Mining only
Jaundice, Chronic Idiopathic	Jaundice	BEFREE	8621134		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kernicterus	Kernicterus	BEFREE	18713069		★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	23886139		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	15908146		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	10500791, 15868938, 15979785, 17350479, 21566063, 22901208, 27035504, 7803281, 7911548, 7911871, 8575859, 8833393, 9616142, 9649117		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	10817732, 16051742, 19414348, 22787275, 24454800, 37726279	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	22901208	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	10648417	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	10419897, 10828037, 18225565, 18711657, 19240178, 19291917, 22664042, 29141648, 32333821, 32621177, 37726279, 9490695	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10050716, 10214864, 10374860, 10419897, 10419902, 10500793, 10695821, 10828037, 11355932, 11587212, 11726321, 11986944, 12153153, 12962366, 14754604 View all (30 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	18200595, 19065772		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	11595704		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	10210147, 22868256, 27845419		★★★★★ ★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	31273342		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10081488, 11354286, 12428063, 12623109, 14599947, 20437864, 21182225, 22110214, 24232099, 26985715, 27081035, 28414325, 28417539, 29602203, 29966655		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	10081488, 28414325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	31747319		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	36563915	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	15856298, 17606722, 19107762		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	19107762, 29072615, 7644478, 8621643, 9683290	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	7833148		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	LHGDN	18799096		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	12085207	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25329677, 30941955, 35363194	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	11595704, 15560070, 9160686		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	19414348	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	7803281, 9722297		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	7803281		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	26332308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	9722297		★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	20520284		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	12558585	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	14737110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	BEFREE	24145283		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	11223551		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	11697834		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12966509, 14607338, 15015586, 15041478, 15113040, 15517899, 16132579, 17993230, 18202791, 19129072, 19235593, 19883630, 20110355, 21529984, 23197647 View all (21 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	25078270		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	11505398, 8847137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	10376985, 22941407, 8637212		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	23229154, 26852750		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	8637212		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	15112342		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	10728601, 11477564, 15254668, 15342407, 16170027, 17308116, 19107762, 21455636, 21736601, 27810353, 29035832, 29072615, 30486290, 31302132, 8467491 View all (9 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of nasopharynx	Nasopharyngeal carcinoma	BEFREE	10762632		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	31289467		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10792001, 11078791, 21480311, 24782036, 29726910		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	15999103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	11205224, 15756676, 17944563, 19930704, 23197647, 23567822, 24515389, 25329677, 25539656, 29908307		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	25590838		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	27485374, 27748815, 31115606		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11097346, 11543717, 11920626, 14636345, 15379935, 15560070, 15999103, 16377077, 17308116, 17350479, 17593626, 17615082, 17701897, 18085475, 18443953 View all (44 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	24040940		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	11097346, 11802216, 12370750, 15517878, 24225025, 30834416, 9045962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	25078270		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12576456, 17033200, 18200595, 19129072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	23481629, 28601971, 9514046		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	25078270		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	25078270		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	10894369, 17429576, 18473730, 29869738		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	29869738	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	11298532, 15999103, 9506534		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	20234362, 25300205, 28293855, 7495278	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	26315299		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	11595715, 11697834, 9495245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	26004871	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metaphyseal chondrodysplasia Schmid type	Metaphyseal chondrodysplasia	BEFREE	14569119		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	15908146		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma	BEFREE	21903448, 24013781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	10809991, 15739024, 22434582, 22445357, 28339079, 7803281, 8062263, 8833393		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	20532504	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	25246735	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	12406906, 17568400, 21520403, 25060527, 27035504, 28587395, 7911548		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	GWASDB_DG	21211798		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	29589533		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	10762632, 25586348		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	36732567	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10037101, 10081488, 10427140, 10690550, 10964688, 10999764, 11720446, 11834590, 12114401, 12149303, 12606129, 12966509, 14599947, 14737110, 15112342 View all (62 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms, Intracranial	Intracranial Neoplasm	BEFREE	20406235		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	11445853, 29790264		★★★★★ ★☆☆☆☆ Found in Text Mining only
NEPHROLITHIASIS, CALCIUM OXALATE	Nephronophthisis	BEFREE	28577929		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	10736562		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10081488, 10348353, 10425316, 11172599, 11720446, 14737110, 15979785, 16575006, 18085475, 18713069, 19654298, 21317832, 21799180, 25640269, 26653549, 7923112, 8532000, 9516823, 9516848 View all (4 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	10376971, 11720446, 16547352, 18713069, 20072950, 25111243	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	25218792	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	10894369		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumors	Neuroectodermal Tumors	BEFREE	12125964		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	24040940	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	19349540, 23396606, 27845419	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	22868256, 27845419		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nodular Sclerosis Classical Hodgkin Lymphoma	Classical Hodgkin lymphoma	BEFREE	31273342		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	11577755, 15254668, 15472893, 15802814, 15856298, 17593626, 19875192, 19900859, 21981718, 22782455, 27268921, 27822706, 27906433, 28762597, 30061938 View all (10 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	31273342		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	11466205		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	16049968, 17045162, 25317073, 29069754		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian adenocarcinoma	Ovarian adenocarcinoma	BEFREE	12473588		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	15269137, 31289467, 8603381		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	16821592, 25881102, 27342070, 37838788, 40158757	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	15688370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Diseases	Pancreatic Diseases	BEFREE	14707729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	17695494, 20922799, 23664167, 33782384, 37108495	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	28411177		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parathyroid Adenoma	Parathyroid Adenoma	BEFREE	11929704, 17299072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic Ulcer	BEFREE	25539656, 29908307		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	CTD_human_DG	20864405		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	39201483	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	11323101, 15543372, 19065772, 7911548		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	LHGDN	19065772		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	31043590		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	12763363		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10792001, 11078791, 21480311, 24782036, 29726910		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	18702307		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	29726910	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	BEFREE	11139250, 11439001		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	LHGDN	11439001		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	15654950, 18256692		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	15654950	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	31448785	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	20487524, 30655622, 34648729	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	26273426	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pyle metaphyseal dysplasia	Pyle Metaphyseal Dysplasia	BEFREE	23643676		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29445446, 8683726, 8980253, 9700723		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	14654923, 22504834		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	12149303, 24145283		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	22662203	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	23799853	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	26950035		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	10964688, 15254668, 15880572, 15979785, 16883578, 16934363, 20047843, 21529984, 23667609, 8467491, 8980384, 9377550, 9413193		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	18281520, 23667609, 26108539, 8980384, 9652763	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
SPHEROCYTOSIS, TYPE 1 (disorder)	Spherocytosis	BEFREE	10953346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Cord Neoplasms	Spinal Cord Neoplasms	BEFREE	20406235		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	15113040, 30132569, 7669560, 8603824, 9081396		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	26768616, 31582906		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	10744048, 12966509, 29162693		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	CTD_human_DG	25275603		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steroid resistant nephrotic syndrome of childhood	Steroid resistant nephrotic syndrome	BEFREE	31191307		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	22504834, 24145283		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	11205224, 15756676, 17944563, 19930704, 23197647, 23567822, 24515389, 25539656, 29908307		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	12085207, 15298732, 16340247, 23564482, 25111243, 25329677, 25550836, 29491212, 29578180, 31852133, 32019330, 37303491, 39781520	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	16410721		★★★★★ ★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	17464317, 24145283		★★★★★ ★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	LHGDN	18316614		★★★★★ ★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	18972317		★★★★★ ★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	8980253		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid cancer medullary	Medullary thyroid cancer	Pubtator	16831027	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	25590838		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	25590838		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31216782		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31216782	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	LHGDN	14984901		★★★★★ ★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	20520284		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	23495258, 34418989	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	39595959	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	28061436	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Xeroderma pigmentosum, group A	Xeroderma Pigmentosum	BEFREE	20811663		★★★★★ ★☆☆☆☆ Found in Text Mining only

ABCC1 (ATP binding cassette subfamily C member 1 (ABCC1 blood group))