PRKCB (protein kinase C beta)

Gene

• Entrez ID: 5579
• Gene name: Protein kinase C beta
• Gene symbol: PRKCB
• Synonyms (NCBI Gene): PKC-beta, PKCB, PKCI(2), PKCbeta, PRKCB1, PRKCB2
• Chromosome: 16
• Chromosome location: 16p12.2-p12.1
• Summary: Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in d

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1131692056	G>T	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022275	hsa-miR-124-3p	Microarray	18668037
MIRT718805	hsa-miR-4778-3p	HITS-CLIP	19536157
MIRT654742	hsa-miR-627-3p	HITS-CLIP	19536157
MIRT718804	hsa-miR-6875-3p	HITS-CLIP	19536157
MIRT718803	hsa-miR-4659a-3p	HITS-CLIP	19536157
MIRT718802	hsa-miR-4659b-3p	HITS-CLIP	19536157
MIRT654756	hsa-miR-488-5p	HITS-CLIP	23824327
MIRT654755	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT654754	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT654753	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT654751	hsa-miR-6780a-3p	HITS-CLIP	23824327
MIRT654752	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT654750	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT654749	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT654747	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT654748	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT654746	hsa-miR-6074	HITS-CLIP	23824327
MIRT654745	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT654744	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT654743	hsa-miR-1248	HITS-CLIP	23824327
MIRT654742	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT654741	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT608983	hsa-miR-3609	HITS-CLIP	24906430
MIRT608982	hsa-miR-548ah-5p	HITS-CLIP	24906430
MIRT608981	hsa-miR-106a-5p	HITS-CLIP	24906430
MIRT608980	hsa-miR-106b-5p	HITS-CLIP	24906430
MIRT608979	hsa-miR-17-5p	HITS-CLIP	24906430
MIRT608978	hsa-miR-20a-5p	HITS-CLIP	24906430
MIRT608977	hsa-miR-20b-5p	HITS-CLIP	24906430
MIRT608976	hsa-miR-519d-3p	HITS-CLIP	24906430
MIRT608975	hsa-miR-526b-3p	HITS-CLIP	24906430
MIRT608974	hsa-miR-93-5p	HITS-CLIP	24906430
MIRT395213	hsa-miR-4796-3p	HITS-CLIP	24906430
MIRT395211	hsa-miR-142-5p	HITS-CLIP	24906430
MIRT395214	hsa-miR-5590-3p	HITS-CLIP	24906430
MIRT608973	hsa-miR-4742-3p	HITS-CLIP	24906430
MIRT608972	hsa-miR-1537-5p	HITS-CLIP	24906430
MIRT608971	hsa-miR-4718	HITS-CLIP	24906430
MIRT608970	hsa-miR-4999-5p	HITS-CLIP	24906430
MIRT395212	hsa-miR-3650	HITS-CLIP	24906430
MIRT395216	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT608969	hsa-miR-4455	HITS-CLIP	24906430
MIRT608968	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT442227	hsa-miR-890	PAR-CLIP	22100165
MIRT442226	hsa-miR-300	PAR-CLIP	22100165
MIRT442225	hsa-miR-381-3p	PAR-CLIP	22100165
MIRT442224	hsa-miR-3614-5p	PAR-CLIP	22100165
MIRT442223	hsa-miR-1261	PAR-CLIP	22100165
MIRT608981	hsa-miR-106a-5p	HITS-CLIP	27418678
MIRT608981	hsa-miR-106a-5p	HITS-CLIP	27418678
MIRT608980	hsa-miR-106b-5p	HITS-CLIP	27418678
MIRT608980	hsa-miR-106b-5p	HITS-CLIP	27418678
MIRT395211	hsa-miR-142-5p	HITS-CLIP	27418678
MIRT395211	hsa-miR-142-5p	HITS-CLIP	27418678
MIRT608972	hsa-miR-1537-5p	HITS-CLIP	27418678
MIRT608972	hsa-miR-1537-5p	HITS-CLIP	27418678
MIRT608979	hsa-miR-17-5p	HITS-CLIP	27418678
MIRT608979	hsa-miR-17-5p	HITS-CLIP	27418678
MIRT608978	hsa-miR-20a-5p	HITS-CLIP	27418678
MIRT608978	hsa-miR-20a-5p	HITS-CLIP	27418678
MIRT608977	hsa-miR-20b-5p	HITS-CLIP	27418678
MIRT608977	hsa-miR-20b-5p	HITS-CLIP	27418678
MIRT608983	hsa-miR-3609	HITS-CLIP	27418678
MIRT608983	hsa-miR-3609	HITS-CLIP	27418678
MIRT395212	hsa-miR-3650	HITS-CLIP	27418678
MIRT395212	hsa-miR-3650	HITS-CLIP	27418678
MIRT608969	hsa-miR-4455	HITS-CLIP	27418678
MIRT608969	hsa-miR-4455	HITS-CLIP	27418678
MIRT608971	hsa-miR-4718	HITS-CLIP	27418678
MIRT608971	hsa-miR-4718	HITS-CLIP	27418678
MIRT608973	hsa-miR-4742-3p	HITS-CLIP	27418678
MIRT395213	hsa-miR-4796-3p	HITS-CLIP	27418678
MIRT395213	hsa-miR-4796-3p	HITS-CLIP	27418678
MIRT608970	hsa-miR-4999-5p	HITS-CLIP	27418678
MIRT608970	hsa-miR-4999-5p	HITS-CLIP	27418678
MIRT608976	hsa-miR-519d-3p	HITS-CLIP	27418678
MIRT608976	hsa-miR-519d-3p	HITS-CLIP	27418678
MIRT608975	hsa-miR-526b-3p	HITS-CLIP	27418678
MIRT608975	hsa-miR-526b-3p	HITS-CLIP	27418678
MIRT608982	hsa-miR-548ah-5p	HITS-CLIP	27418678
MIRT608982	hsa-miR-548ah-5p	HITS-CLIP	27418678
MIRT395214	hsa-miR-5590-3p	HITS-CLIP	27418678
MIRT395214	hsa-miR-5590-3p	HITS-CLIP	27418678
MIRT576416	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT576416	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT576416	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT576416	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT395216	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT395216	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT395216	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT395216	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT608974	hsa-miR-93-5p	HITS-CLIP	27418678
MIRT608974	hsa-miR-93-5p	HITS-CLIP	27418678
MIRT733514	hsa-miR-1200	Microarray	34164896
MIRT733514	hsa-miR-1200	Microarray	34164896
MIRT718805	hsa-miR-4778-3p	HITS-CLIP	19536157
MIRT654742	hsa-miR-627-3p	HITS-CLIP	19536157
MIRT718804	hsa-miR-6875-3p	HITS-CLIP	19536157
MIRT718803	hsa-miR-4659a-3p	HITS-CLIP	19536157
MIRT718802	hsa-miR-4659b-3p	HITS-CLIP	19536157
MIRT654756	hsa-miR-488-5p	HITS-CLIP	23824327
MIRT654755	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT654754	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT654753	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT654751	hsa-miR-6780a-3p	HITS-CLIP	23824327
MIRT654752	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT654750	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT654749	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT654747	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT654748	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT654746	hsa-miR-6074	HITS-CLIP	23824327
MIRT654745	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT654744	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT654743	hsa-miR-1248	HITS-CLIP	23824327
MIRT654742	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT654741	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT442227	hsa-miR-890	PAR-CLIP	22100165
MIRT442226	hsa-miR-300	PAR-CLIP	22100165
MIRT442225	hsa-miR-381-3p	PAR-CLIP	22100165
MIRT442224	hsa-miR-3614-5p	PAR-CLIP	22100165
MIRT442223	hsa-miR-1261	PAR-CLIP	22100165
MIRT1262987	hsa-miR-106a	CLIP-seq
MIRT1262988	hsa-miR-106b	CLIP-seq
MIRT1262989	hsa-miR-1237	CLIP-seq
MIRT1262990	hsa-miR-1238	CLIP-seq
MIRT1262991	hsa-miR-1297	CLIP-seq
MIRT1262992	hsa-miR-1324	CLIP-seq
MIRT1262993	hsa-miR-141	CLIP-seq
MIRT1262994	hsa-miR-17	CLIP-seq
MIRT1262995	hsa-miR-197	CLIP-seq
MIRT1262996	hsa-miR-200a	CLIP-seq
MIRT1262997	hsa-miR-20a	CLIP-seq
MIRT1262998	hsa-miR-20b	CLIP-seq
MIRT1262999	hsa-miR-26a	CLIP-seq
MIRT1263000	hsa-miR-26b	CLIP-seq
MIRT1263001	hsa-miR-3124-3p	CLIP-seq
MIRT1263002	hsa-miR-3165	CLIP-seq
MIRT1263003	hsa-miR-3183	CLIP-seq
MIRT1263004	hsa-miR-361-5p	CLIP-seq
MIRT1263005	hsa-miR-3617	CLIP-seq
MIRT1263006	hsa-miR-3646	CLIP-seq
MIRT1263007	hsa-miR-3690	CLIP-seq
MIRT1263008	hsa-miR-3942-3p	CLIP-seq
MIRT1263009	hsa-miR-3977	CLIP-seq
MIRT1263010	hsa-miR-4254	CLIP-seq
MIRT1263011	hsa-miR-4263	CLIP-seq
MIRT1263012	hsa-miR-4302	CLIP-seq
MIRT1263013	hsa-miR-431	CLIP-seq
MIRT1263014	hsa-miR-4330	CLIP-seq
MIRT1263015	hsa-miR-4434	CLIP-seq
MIRT1263016	hsa-miR-4436a	CLIP-seq
MIRT1263017	hsa-miR-4465	CLIP-seq
MIRT1263018	hsa-miR-4491	CLIP-seq
MIRT1263019	hsa-miR-4516	CLIP-seq
MIRT1263020	hsa-miR-4529-5p	CLIP-seq
MIRT1263021	hsa-miR-4531	CLIP-seq
MIRT1263022	hsa-miR-4657	CLIP-seq
MIRT1263023	hsa-miR-4717-5p	CLIP-seq
MIRT1263024	hsa-miR-4723-3p	CLIP-seq
MIRT1263025	hsa-miR-500a	CLIP-seq
MIRT1263026	hsa-miR-508-5p	CLIP-seq
MIRT1263027	hsa-miR-511	CLIP-seq
MIRT1263028	hsa-miR-519d	CLIP-seq
MIRT1263029	hsa-miR-539	CLIP-seq
MIRT1263030	hsa-miR-548a-5p	CLIP-seq
MIRT1263031	hsa-miR-548aa	CLIP-seq
MIRT1263032	hsa-miR-548ab	CLIP-seq
MIRT1263033	hsa-miR-548ah	CLIP-seq
MIRT1263034	hsa-miR-548ak	CLIP-seq
MIRT1263035	hsa-miR-548b-5p	CLIP-seq
MIRT1263036	hsa-miR-548c-5p	CLIP-seq
MIRT1263037	hsa-miR-548d-5p	CLIP-seq
MIRT1263038	hsa-miR-548h	CLIP-seq
MIRT1263039	hsa-miR-548i	CLIP-seq
MIRT1263040	hsa-miR-548j	CLIP-seq
MIRT1263041	hsa-miR-548k	CLIP-seq
MIRT1263042	hsa-miR-548l	CLIP-seq
MIRT1263043	hsa-miR-548w	CLIP-seq
MIRT1263044	hsa-miR-548y	CLIP-seq
MIRT1263045	hsa-miR-559	CLIP-seq
MIRT1263046	hsa-miR-576-5p	CLIP-seq
MIRT1263047	hsa-miR-587	CLIP-seq
MIRT1263048	hsa-miR-610	CLIP-seq
MIRT1263049	hsa-miR-640	CLIP-seq
MIRT1263050	hsa-miR-641	CLIP-seq
MIRT1263051	hsa-miR-665	CLIP-seq
MIRT1263052	hsa-miR-93	CLIP-seq
MIRT1263053	hsa-miR-939	CLIP-seq
MIRT2303967	hsa-miR-1914	CLIP-seq
MIRT2303968	hsa-miR-2355-3p	CLIP-seq
MIRT2303969	hsa-miR-4265	CLIP-seq
MIRT2303970	hsa-miR-4296	CLIP-seq
MIRT2303971	hsa-miR-4322	CLIP-seq
MIRT2303972	hsa-miR-4417	CLIP-seq
MIRT2303973	hsa-miR-4646-3p	CLIP-seq
MIRT2303974	hsa-miR-561	CLIP-seq
MIRT2303975	hsa-miR-676	CLIP-seq
MIRT1263012	hsa-miR-4302	CLIP-seq
MIRT1263016	hsa-miR-4436a	CLIP-seq
MIRT1263026	hsa-miR-508-5p	CLIP-seq
MIRT1263048	hsa-miR-610	CLIP-seq
MIRT1263051	hsa-miR-665	CLIP-seq
MIRT1262990	hsa-miR-1238	CLIP-seq
MIRT1262995	hsa-miR-197	CLIP-seq
MIRT1263001	hsa-miR-3124-3p	CLIP-seq
MIRT2600903	hsa-miR-361-3p	CLIP-seq
MIRT2600904	hsa-miR-3682-5p	CLIP-seq
MIRT1263012	hsa-miR-4302	CLIP-seq
MIRT1263016	hsa-miR-4436a	CLIP-seq
MIRT2600905	hsa-miR-493	CLIP-seq
MIRT1263026	hsa-miR-508-5p	CLIP-seq
MIRT1263027	hsa-miR-511	CLIP-seq
MIRT2600906	hsa-miR-550b	CLIP-seq
MIRT1263048	hsa-miR-610	CLIP-seq
MIRT1263051	hsa-miR-665	CLIP-seq
MIRT1262990	hsa-miR-1238	CLIP-seq
MIRT1262995	hsa-miR-197	CLIP-seq
MIRT1263001	hsa-miR-3124-3p	CLIP-seq
MIRT2600904	hsa-miR-3682-5p	CLIP-seq
MIRT1263012	hsa-miR-4302	CLIP-seq
MIRT1263016	hsa-miR-4436a	CLIP-seq
MIRT1263026	hsa-miR-508-5p	CLIP-seq
MIRT1263027	hsa-miR-511	CLIP-seq
MIRT2600906	hsa-miR-550b	CLIP-seq
MIRT1263048	hsa-miR-610	CLIP-seq
MIRT1263051	hsa-miR-665	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
MITF	Unknown	16411896

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0003682	Function	Chromatin binding	IDA	20228790
GO:0003713	Function	Transcription coactivator activity	IMP	20228790
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	TAS
GO:0004697	Function	Diacylglycerol-dependent serine/threonine kinase activity	EXP	12391145
GO:0004697	Function	Diacylglycerol-dependent serine/threonine kinase activity	IEA
GO:0004697	Function	Diacylglycerol-dependent serine/threonine kinase activity	TAS	3755548
GO:0004698	Function	Calcium,diacylglycerol-dependent serine/threonine kinase activity	IDA	25313067, 25982116
GO:0004698	Function	Calcium,diacylglycerol-dependent serine/threonine kinase activity	IEA
GO:0005080	Function	Protein kinase C binding	IPI	20228790
GO:0005246	Function	Calcium channel regulator activity	IEA
GO:0005515	Function	Protein binding	IPI	18162466, 20228790, 21044950, 25852190, 32707033, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	20228790
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	15632189
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	15632189
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IMP	20228790
GO:0006468	Process	Protein phosphorylation	TAS	3755548
GO:0006816	Process	Calcium ion transport	IEA
GO:0006874	Process	Intracellular calcium ion homeostasis	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0007077	Process	Mitotic nuclear membrane disassembly	IEA
GO:0007077	Process	Mitotic nuclear membrane disassembly	TAS
GO:0007165	Process	Signal transduction	NAS	3755548
GO:0007207	Process	Phospholipase C-activating G protein-coupled acetylcholine receptor signaling pathway	IEA
GO:0008091	Component	Spectrin	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0010827	Process	Regulation of D-glucose transmembrane transport	IDA	25982116
GO:0010829	Process	Negative regulation of D-glucose transmembrane transport	IEA
GO:0010829	Process	Negative regulation of D-glucose transmembrane transport	ISS
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030949	Process	Positive regulation of vascular endothelial growth factor receptor signaling pathway	IEA
GO:0030949	Process	Positive regulation of vascular endothelial growth factor receptor signaling pathway	ISS
GO:0032024	Process	Positive regulation of insulin secretion	IEA
GO:0035403	Function	Histone H3T6 kinase activity	IDA	20228790
GO:0035403	Function	Histone H3T6 kinase activity	IEA
GO:0035556	Process	Intracellular signal transduction	IBA
GO:0042113	Process	B cell activation	IEA
GO:0042113	Process	B cell activation	ISS
GO:0042393	Function	Histone binding	IDA	20228790
GO:0042953	Process	Lipoprotein transport	TAS	18981301
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IEA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	ISS
GO:0044305	Component	Calyx of Held	IEA
GO:0045766	Process	Positive regulation of angiogenesis	IEA
GO:0045766	Process	Positive regulation of angiogenesis	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0046627	Process	Negative regulation of insulin receptor signaling pathway	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0050681	Function	Nuclear androgen receptor binding	IDA	20228790
GO:0050853	Process	B cell receptor signaling pathway	IEA
GO:0050853	Process	B cell receptor signaling pathway	ISS
GO:0051049	Process	Regulation of transport	IEA
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0070528	Process	Protein kinase C signaling	IDA	20228790
GO:0070528	Process	Protein kinase C signaling	IEA
GO:0071322	Process	Cellular response to carbohydrate stimulus	IEA
GO:0099171	Process	Presynaptic modulation of chemical synaptic transmission	IEA
GO:0099523	Component	Presynaptic cytosol	IEA
GO:0106310	Function	Protein serine kinase activity	IEA
GO:2000300	Process	Regulation of synaptic vesicle exocytosis	IEA

Other IDs

• MIM: 176970
• HGNC: 9395
• e!Ensembl: ENSG00000166501

Protein

• UniProt ID: P05771
• Protein name: Protein kinase C beta type (PKC-B) (PKC-beta) (EC 2.7.11.13)
• Protein function: Calcium-activated, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase involved in various cellular processes such as regulation of the B-cell receptor (BCR) signalosome, oxidative stress-induced apoptosis, androgen
• PDB: 2I0E, 8SG2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00130	C1_1	37 → 89	Phorbol esters/diacylglycerol binding domain (C1 domain)	Domain
  PF00130	C1_1	102 → 154	Phorbol esters/diacylglycerol binding domain (C1 domain)	Domain
  PF00168	C2	171 → 277	C2 domain	Domain
  PF00069	Pkinase	342 → 600	Protein kinase domain	Domain
  PF00433	Pkinase_C	622 → 662	Protein kinase C terminal domain	Family

• Sequence:

  MADPAAGPPPSEGEESTVRFARKGALRQKNVHEVKNHKFTARFFKQPTFCSHCTDFIWGF
  GKQGFQCQVCCFVVHKRCHEFVTFSCPGADKGPASDDPRSKHKFKIHTYSSPTFCDHCGS
  LLYGLIHQGMKCDTCMMNVHKRCVMNVPSLCGTDHTERRGRIYIQAHIDRDVLIVLVRDA
  KNLVPMDPNGLSDPYVKLKLIPDPKSESKQKTKTIKCSLNPEWNETFRFQLKESDKDRRL
  SVEIWDWDLTSRNDFMGSLSFGISELQKASVDGWFKLLSQEEGEYFNVPVPPEGSEANEE
  LRQKFERAKISQGTKVPEEKTTNTVSKFDNNGNRDRMKLTDFNFLMVLGKGSFGKVMLSE
  RKGTDELYAVKILKKDVVIQDDDVECTMVEKRVLALPGKPPFLTQLHSCFQTMDRLYFVM
  EYVNGGDLMYHIQQVGRFKEPHAVFYAAEIAIGLFFLQSKGIIYRDLKLDNVMLDSEGHI
  KIADFGMCKENIWDGVTTKTFCGTPDYIAPEIIAYQPYGKSVDWWAFGVLLYEMLAGQAP
  FEGEDEDELFQSIMEHNVAYPKSMSKEAVAICKGLMTKHPGKRLGCGPEGERDIKEHAFF
  RYIDWEKLERKEIQPPYKPKARDKRDTSNFDKEFTRQPVELTPTDKLFIMNLDQNEFAGF
  SYTNPEFVINV

• Sequence length: 671

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Progressive sensorineural hearing impairment	Pathogenic	rs1131692056	RCV000495853	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY LIVER CIRRHOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMEGALY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERGLYCEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA-LYMPHOMA, ADULT T-CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CIRRHOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRKCB-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Actinic keratosis	Actinic keratosis	BEFREE	30944245		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	16243790, 24990612		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	20200558		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	21406403		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	11713587		★☆☆☆☆ Found in Text Mining only
Adrenal cortical hypofunction	Adrenal Cortical Hypofunction	BEFREE	29846607		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	CTD_human_DG	26437031		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	30097855		★☆☆☆☆ Found in Text Mining only
Adult type dermatomyositis	Dermatomyositis	BEFREE	23557915		★☆☆☆☆ Found in Text Mining only
AL-RAQAD SYNDROME	AL-Raqad Syndrome	BEFREE	15751970		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	22982105, 26510741	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	24334724	Stimulate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	33186918	Inhibit	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	29050205		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	29266405, 31817487		★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	31051220		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic Aneurysm, Thoracic	Aortic Aneurysm	LHGDN	17846295		★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	BEFREE	30970525		★☆☆☆☆ Found in Text Mining only
Aortic Rupture	Aortic Rupture	BEFREE	31639107		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	23766264		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	14719189		★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	7547380	Inhibit	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	22830352, 28448991		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	23766264		★☆☆☆☆ Found in Text Mining only
Atrial cardiomyopathy	Atrial cardiomyopathy	BEFREE	31735076		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	30496756		★☆☆☆☆ Found in Text Mining only
ATRICHIA WITH PAPULAR LESIONS	Atrichia With Papular Lesions	BEFREE	20200558		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	30153408	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	30153408		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	34562210	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	25313507		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	16027742, 17167344, 18317465		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	16027742		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	30153408, 34562210	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	21983831		★☆☆☆☆ Found in Text Mining only
Axenfeld-Rieger syndrome	Axenfeld anomaly	BEFREE	15751970		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	LHGDN	17926183		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	30153408	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	28585865		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12841677, 16166314, 20099025, 26806619, 28190385, 28515445, 28755423, 30257985, 30446625, 31571495, 8320275		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19324060, 32005108, 33760219, 36499753	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	1712443		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	12480928	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	20228790		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	18167130	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	19949911	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	18632643, 21360576		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	33593879	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	23843242		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	29234372		★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)	Cardiomyopathy	BEFREE	27557662		★☆☆☆☆ Found in Text Mining only
CATARACT, MARNER TYPE	Cataract	BEFREE	10082134		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	23963366	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	28401402		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	11642552		★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	28500348		★☆☆☆☆ Found in Text Mining only
Cholesterol gallstones	Cholesterol gallstones	BEFREE	28104587		★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	25486357	Associate	★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	20736472		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	12737946, 19168795, 23328482, 26910488		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	26634245		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	35484353	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	15322124, 19232344, 19506549, 19833168, 24914206, 25366420, 26989024		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	7999261, 8404381		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	11839557, 22543197, 25366420, 29408512, 31810137, 8404381		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	7705931		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24504536, 25486357	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26989024	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	7705931		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conduction disorder of the heart	Conduction Disorder Of The Heart	BEFREE	19907076		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	11709417, 21666110, 29333637, 29396114		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	21233420, 27666332		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	29654769		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	17522815	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	26215868		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	30390010		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	26343587		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	23557915		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29234372, 31743046		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	LHGDN	12435880, 12874455		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	19279131, 22965996, 29754148, 35592524, 36736734, 37460827	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	22828147	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	23766264, 28826907, 29234372, 31743046		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	24455749, 25502755, 36736734	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	12874455, 27865779		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	14636302, 15384959, 16567829, 20736472, 25502755, 30692925		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	15531508		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Angiopathies	Diabetic cardiomyopathy	BEFREE	15384959		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	12874455, 16567829, 20141354, 28414198, 30417389		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	LHGDN	12874455, 15327405, 18278479		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	20141354, 21254925, 30930967		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	27509144	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	25589617, 30777096		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	10323309, 11346027		★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	31138298		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	15299092		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29329108		★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	34722763	Associate	★☆☆☆☆ Found in Text Mining only
Episodic ataxia type 1	Episodic ataxia	BEFREE	11346027		★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	18342628, 20158512, 28081739, 28188686, 31373844, 31745212		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	28771997		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	28771997		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	22930730		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	10101252		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	29088742		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	28286052		★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	12951842		★☆☆☆☆ Found in Text Mining only
Gastritis, Atrophic	Gastritis	BEFREE	27323780		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	15095270, 18381383, 21358619, 23862765, 26243012, 27440273		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	16331246, 16832347, 21040711, 21419810		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	21649900, 29393370	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	16331246, 16832347, 21040711, 21419810		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	15842253, 30816530	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	18508315, 20613874, 27903982, 30116883, 30816530		★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	20375117, 28539358		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	29396114		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	11709417, 21666110, 29333637, 29396114		★☆☆☆☆ Found in Text Mining only
Hepatic Fibrosis, Congenital	Congenital Hepatic Fibrosis	BEFREE	18949060		★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	17003101		★☆☆☆☆ Found in Text Mining only
Histiocytoma, Benign Fibrous	Benign fibrous histiocytoma	BEFREE	26121314		★☆☆☆☆ Found in Text Mining only
Hurthle Cell Tumor	Tumor	BEFREE	30116406		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	10233166, 19279131, 28954262, 31743046		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperglycemia	Hyperglycemia	CTD_human_DG	17443133		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperglycemia	Hyperglycemia	Pubtator	23963366	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	25982096		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	29032894, 29187383		★☆☆☆☆ Found in Text Mining only
Hyperoxaluria	Hyperoxaluria	BEFREE	30020825		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Secondary	Hyperparathyroidism	BEFREE	28843775		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	31197021		★☆☆☆☆ Found in Text Mining only
Hypocholesterolemia	Hypocholesterolemia	BEFREE	27866837		★☆☆☆☆ Found in Text Mining only
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic Rickets	BEFREE	31484825		★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	30816547		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	18758661	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	29884460		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29382817		★☆☆☆☆ Found in Text Mining only
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)	Infantile convulsions and choreoathetosis	BEFREE	11346027		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	22830352, 30020825		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	23128233, 26192919, 28067908		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASDB_DG	23128233		★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	19232344		★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	16166314		★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	30020825		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	12874455, 16567829, 20736472, 28539358		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	LHGDN	16567829		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	20736472		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	17588800		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	9858570	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	19887445	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	17255356, 21360576, 24334295, 29127121		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11642408, 19112601, 29088742		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	18167130		★☆☆☆☆ Found in Text Mining only
Low frequency deafness	Low-frequency hearing loss	BEFREE	27329761		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	29849902	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	23280626, 31401343		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	15379867	Inhibit	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	23280626, 31401343		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	15379867, 16431347, 21134959, 23280626, 29297929, 31401343		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	23280626		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	23280626, 31401343		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	21360576, 30116883		★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	17255358	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	20976278		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	PSYGENET_DG	20092830		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	BEFREE	26343587		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Bone Neoplasm	Malignant Bone Neoplasm	BEFREE	29428215		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12841677, 16166314, 16408291, 20099025, 26806619, 28190385, 28515445, 28755423, 30257985, 30446625, 31571495, 8320275		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	28771997		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	18632643, 21360576		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	8847210		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	23843242		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	19924022, 28826907		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	18778896, 21266973, 21406403, 26786102, 30226591, 31477269		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	12203123, 31261030, 31689616		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	17003101		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	11994357		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11190577, 12014641, 18632643, 18778896, 22549737, 23096778, 24030148, 24334295, 24705298, 24810255, 25289898, 26989024, 28190385, 28571764, 28756980, 29408512, 30082750, 30226591, 30904392, 31336725, 7747250		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	15322124, 19506549, 19833168, 24914206, 25366420, 26989024		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	22511072		★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	BEFREE	30981159		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	11479424, 24406113		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	11479424, 18826602, 20015121, 24406113, 25712345, 27450914, 31356866		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	17625596		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	7678596	Associate	★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	LHGDN	16775601		★☆☆☆☆ Found in Text Mining only
Meniere Disease	Meniere Disease	GENOMICS_ENGLAND_DG	25305078		★☆☆☆☆ Found in Text Mining only
Meniere Disease	Meniere Disease	BEFREE	27329761		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	26343587		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	26300055		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	18765998	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	28626026		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	24406113, 29048609		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	29849902	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	17714780, 22435755		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	22830352		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	30711624		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	30395882		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28777252, 31241168		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	29654769		★☆☆☆☆ Found in Text Mining only
Myocardial necrosis	Myocardial necrosis	BEFREE	28777252		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	28903333		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	17936705, 19907076, 24179176, 24878509		★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	17936705		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	30809095		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10593857, 11190577, 15095270, 16166314, 16408291, 18632643, 18778896, 20228790, 21310943, 21822543, 22511072, 23200847, 23328482, 24106905, 24371225, 24413085, 25366420, 25372487, 25454347, 25619690, 25802333, 26510741, 26790955, 26989024, 27440273, 28383663, 28515445, 28771997, 29143824, 29946338, 30995899, 31689616, 8404381, 9615708		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	BEFREE	30020825		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	28482641		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	22371354		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	14655750, 18991684, 21315177, 21716262		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	37551632	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29329108		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	30573200, 30692925, 30773673		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	18632643, 20439192, 23303128, 28422739, 31261030, 31410027		★☆☆☆☆ Found in Text Mining only
NONAKA MYOPATHY	Inclusion body myopathy	BEFREE	16832347		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	24455749	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28585197, 28626026, 29141949, 29574066, 31630415		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	35990678	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	19609857, 28339053		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	23843242		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	35464051	Associate	★☆☆☆☆ Found in Text Mining only
Oxyphilic Adenoma	Oxyphilic Adenoma	BEFREE	30116406		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	19924022, 28826907		★☆☆☆☆ Found in Text Mining only
Pancreatic Diseases	Pancreatic Diseases	BEFREE	28826907		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	32367578	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	28826907		★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	BEFREE	24711455		★☆☆☆☆ Found in Text Mining only
Pemphigus Foliaceus	Pemphigus Foliaceus	BEFREE	28620161		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	35990678	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	BEFREE	11673479		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	11673479, 30926374		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	11673479, 30926374		★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	30097855		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	18949060		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	30390010		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	28062665		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary biliary cirrhosis	Biliary Cirrhosis	GWASCAT_DG	28062665		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate carcinoma	Prostate cancer	BEFREE	18778896, 21266973, 21406403, 26786102, 30226591, 31477269		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	34198725, 35087237, 9916928	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	Pubtator	7547380	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	29849902	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	22192844		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	21233420		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	22322241		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	20141354		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	29088742		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	17122966, 18632643, 22830352		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scleroderma	Scleroderma	BEFREE	16447227		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	27329761		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	CLINVAR_DG	27329761		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	29617417, 30352239		★☆☆☆☆ Found in Text Mining only
Severe Acute Respiratory Syndrome	Severe Acute Respiratory Syndrome	BEFREE	19112100		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	20439192		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	LHGDN	16080189		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	37551632	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	16374540, 8847210		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	27481515		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	30573200		★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	30816547		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	12203123, 17393422, 31261030, 31689616		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	17003101		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Systemic Scleroderma	Scleroderma	BEFREE	16447227		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	11994357		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	11994357		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	28388298, 28515445		★☆☆☆☆ Found in Text Mining only
Tumors of Adrenal Cortex	Tumors Of Adrenal Cortex	BEFREE	8969921		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26192919, 26974007, 28067908		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	20092830		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	28629334	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	28246354	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	22653968	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	24413085, 30525429		★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	27980071		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	19955485		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	29297929		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	28822034		★☆☆☆☆ Found in Text Mining only
Vitamin D-Resistant Rickets, X-Linked	Vitamin D-Dependent Rickets	BEFREE	31484825		★☆☆☆☆ Found in Text Mining only