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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	5580
Gene name	Protein kinase C delta
Gene symbol	PRKCD
Synonyms (NCBI Gene)	ALPS3CVID9MAY1PKCDnPKC-delta
Chromosome	3
Chromosome location	3p21.1
Summary	The protein encoded by this gene is a member of the protein kinase C family of serine- and threonine-specific protein kinases. The encoded protein is activated by diacylglycerol and is both a tumor suppressor and a positive regulator of cell cycle progres

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SNP ID	Visualize variation	Clinical significance	Consequence
rs33911937	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant
rs398122958	G>A	Pathogenic	Splice donor variant
rs606231296	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs606231297	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1295207359	A>G	Likely-pathogenic	Splice acceptor variant

195

Show/Hide all (195)

miRTarBase ID	miRNA	Experiments	Reference
MIRT041814	hsa-miR-484	CLASH	23622248
MIRT039609	hsa-miR-615-3p	CLASH	23622248
MIRT039609	hsa-miR-615-3p	CLASH	23622248
MIRT053097	hsa-miR-26a-5p	Luciferase reporter assayWestern blot	23525216
MIRT163342	hsa-miR-181a-5p	Luciferase reporter assay	24183997
MIRT163342	hsa-miR-181a-5p	Luciferase reporter assay	24183997
MIRT163342	hsa-miR-181a-5p	Luciferase reporter assay	24183997
MIRT163342	hsa-miR-181a-5p	Luciferase reporter assay	24183997
MIRT163378	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT163346	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT613705	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT163378	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT613708	hsa-miR-4268	HITS-CLIP	23824327
MIRT613707	hsa-miR-4448	HITS-CLIP	23824327
MIRT163346	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT613706	hsa-miR-6772-3p	HITS-CLIP	23824327
MIRT613705	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT163363	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT163384	hsa-miR-6856-3p	PAR-CLIP	21572407
MIRT163348	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT163380	hsa-miR-5692b	PAR-CLIP	21572407
MIRT163379	hsa-miR-5692c	PAR-CLIP	21572407
MIRT163350	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT163378	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT515489	hsa-miR-654-3p	PAR-CLIP	21572407
MIRT515488	hsa-miR-4796-5p	PAR-CLIP	21572407
MIRT163349	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT163358	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT163346	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT163369	hsa-miR-3924	PAR-CLIP	21572407
MIRT163363	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT163348	hsa-miR-369-3p	PAR-CLIP	23446348
MIRT163380	hsa-miR-5692b	PAR-CLIP	23446348
MIRT163379	hsa-miR-5692c	PAR-CLIP	23446348
MIRT163350	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT163378	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT515489	hsa-miR-654-3p	PAR-CLIP	23446348
MIRT515488	hsa-miR-4796-5p	PAR-CLIP	23446348
MIRT163349	hsa-miR-374a-5p	PAR-CLIP	23446348
MIRT163358	hsa-miR-374b-5p	PAR-CLIP	23446348
MIRT163346	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT163369	hsa-miR-3924	PAR-CLIP	23446348
MIRT163362	hsa-miR-1305	PAR-CLIP	23446348
MIRT163253	hsa-miR-15a-5p	HITS-CLIP	22473208
MIRT163257	hsa-miR-15b-5p	HITS-CLIP	22473208
MIRT163254	hsa-miR-16-5p	HITS-CLIP	22473208
MIRT163261	hsa-miR-195-5p	HITS-CLIP	22473208
MIRT163342	hsa-miR-181a-5p	HITS-CLIP	22473208
MIRT163343	hsa-miR-181b-5p	HITS-CLIP	22473208
MIRT163344	hsa-miR-181c-5p	HITS-CLIP	22473208
MIRT163351	hsa-miR-181d-5p	HITS-CLIP	22473208
MIRT053097	hsa-miR-26a-5p	HITS-CLIP	22473208
MIRT163340	hsa-miR-26b-5p	HITS-CLIP	22473208
MIRT163342	hsa-miR-181a-5p	qRT-PCRLuciferase reporter assayWestern blot	25174404
MIRT163342	hsa-miR-181a-5p	qRT-PCRLuciferase reporter assayWestern blot	25174404
MIRT163344	hsa-miR-181c-5p	Luciferase reporter assay	26629004
MIRT163344	hsa-miR-181c-5p	Luciferase reporter assay	26629004
MIRT053097	hsa-miR-26a-5p	Luciferase reporter assayWestern blottingImmunoprecipitaion (IP)qRT-PCRELISA	31907356
MIRT163340	hsa-miR-26b-5p	Luciferase reporter assayWestern blottingImmunoprecipitaion (IP)qRT-PCRELISA	31907356
MIRT163378	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT163346	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT613705	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT163378	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT613708	hsa-miR-4268	HITS-CLIP	23824327
MIRT613707	hsa-miR-4448	HITS-CLIP	23824327
MIRT163346	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT613706	hsa-miR-6772-3p	HITS-CLIP	23824327
MIRT613705	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT163363	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT163384	hsa-miR-6856-3p	PAR-CLIP	21572407
MIRT163348	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT163380	hsa-miR-5692b	PAR-CLIP	21572407
MIRT163379	hsa-miR-5692c	PAR-CLIP	21572407
MIRT163350	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT163378	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT515489	hsa-miR-654-3p	PAR-CLIP	21572407
MIRT515488	hsa-miR-4796-5p	PAR-CLIP	21572407
MIRT163349	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT163358	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT163346	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT163369	hsa-miR-3924	PAR-CLIP	21572407
MIRT163363	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT163348	hsa-miR-369-3p	PAR-CLIP	23446348
MIRT163380	hsa-miR-5692b	PAR-CLIP	23446348
MIRT163379	hsa-miR-5692c	PAR-CLIP	23446348
MIRT163350	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT163378	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT515489	hsa-miR-654-3p	PAR-CLIP	23446348
MIRT515488	hsa-miR-4796-5p	PAR-CLIP	23446348
MIRT163349	hsa-miR-374a-5p	PAR-CLIP	23446348
MIRT163358	hsa-miR-374b-5p	PAR-CLIP	23446348
MIRT163346	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT163369	hsa-miR-3924	PAR-CLIP	23446348
MIRT163362	hsa-miR-1305	PAR-CLIP	23446348
MIRT1263054	hsa-miR-1207-5p	CLIP-seq
MIRT1263055	hsa-miR-1293	CLIP-seq
MIRT1263056	hsa-miR-3616-3p	CLIP-seq
MIRT1263057	hsa-miR-3665	CLIP-seq
MIRT1263058	hsa-miR-3934	CLIP-seq
MIRT1263059	hsa-miR-4436b-3p	CLIP-seq
MIRT1263060	hsa-miR-4483	CLIP-seq
MIRT1263061	hsa-miR-4763-3p	CLIP-seq
MIRT1263062	hsa-miR-1297	CLIP-seq
MIRT1263063	hsa-miR-181a	CLIP-seq
MIRT1263064	hsa-miR-181b	CLIP-seq
MIRT1263065	hsa-miR-181c	CLIP-seq
MIRT1263066	hsa-miR-181d	CLIP-seq
MIRT1263067	hsa-miR-26a	CLIP-seq
MIRT1263068	hsa-miR-26b	CLIP-seq
MIRT1263069	hsa-miR-4262	CLIP-seq
MIRT1263070	hsa-miR-4465	CLIP-seq
MIRT1263071	hsa-miR-494	CLIP-seq
MIRT1263072	hsa-miR-606	CLIP-seq
MIRT2077439	hsa-miR-374a	CLIP-seq
MIRT2077440	hsa-miR-374b	CLIP-seq
MIRT2077441	hsa-miR-3942-5p	CLIP-seq
MIRT2077442	hsa-miR-410	CLIP-seq
MIRT2077443	hsa-miR-4684-5p	CLIP-seq
MIRT2077444	hsa-miR-4703-5p	CLIP-seq
MIRT2077445	hsa-miR-4719	CLIP-seq
MIRT2077446	hsa-miR-4768-5p	CLIP-seq
MIRT2077447	hsa-miR-490-3p	CLIP-seq
MIRT2303976	hsa-miR-1226	CLIP-seq
MIRT1263055	hsa-miR-1293	CLIP-seq
MIRT2303977	hsa-miR-140-3p	CLIP-seq
MIRT2303978	hsa-miR-15a	CLIP-seq
MIRT2303979	hsa-miR-15b	CLIP-seq
MIRT2303980	hsa-miR-16	CLIP-seq
MIRT2303981	hsa-miR-1908	CLIP-seq
MIRT2303982	hsa-miR-195	CLIP-seq
MIRT2303983	hsa-miR-197	CLIP-seq
MIRT2303984	hsa-miR-224	CLIP-seq
MIRT2303985	hsa-miR-27a	CLIP-seq
MIRT2303986	hsa-miR-27b	CLIP-seq
MIRT2303987	hsa-miR-298	CLIP-seq
MIRT2303988	hsa-miR-3125	CLIP-seq
MIRT2303989	hsa-miR-3150a-3p	CLIP-seq
MIRT2303990	hsa-miR-3156-3p	CLIP-seq
MIRT2303991	hsa-miR-3175	CLIP-seq
MIRT2303992	hsa-miR-3180	CLIP-seq
MIRT2303993	hsa-miR-3180-3p	CLIP-seq
MIRT2303994	hsa-miR-3196	CLIP-seq
MIRT2303995	hsa-miR-361-3p	CLIP-seq
MIRT1263057	hsa-miR-3665	CLIP-seq
MIRT2303996	hsa-miR-3677-3p	CLIP-seq
MIRT2303997	hsa-miR-377	CLIP-seq
MIRT2303998	hsa-miR-3907	CLIP-seq
MIRT2303999	hsa-miR-3916	CLIP-seq
MIRT1263058	hsa-miR-3934	CLIP-seq
MIRT2304000	hsa-miR-3940-3p	CLIP-seq
MIRT2077441	hsa-miR-3942-5p	CLIP-seq
MIRT2304001	hsa-miR-424	CLIP-seq
MIRT2304002	hsa-miR-4301	CLIP-seq
MIRT1263060	hsa-miR-4483	CLIP-seq
MIRT2304003	hsa-miR-4530	CLIP-seq
MIRT2304004	hsa-miR-4640-5p	CLIP-seq
MIRT2077443	hsa-miR-4684-5p	CLIP-seq
MIRT2077444	hsa-miR-4703-5p	CLIP-seq
MIRT2304005	hsa-miR-4712-3p	CLIP-seq
MIRT2304006	hsa-miR-4726-5p	CLIP-seq
MIRT2304007	hsa-miR-4733-3p	CLIP-seq
MIRT2304008	hsa-miR-4736	CLIP-seq
MIRT2077446	hsa-miR-4768-5p	CLIP-seq
MIRT2304009	hsa-miR-491-5p	CLIP-seq
MIRT2304010	hsa-miR-497	CLIP-seq
MIRT2304011	hsa-miR-513a-5p	CLIP-seq
MIRT2304012	hsa-miR-548q	CLIP-seq
MIRT2304013	hsa-miR-663	CLIP-seq
MIRT2304014	hsa-miR-744	CLIP-seq
MIRT2304015	hsa-miR-922	CLIP-seq
MIRT2304016	hsa-miR-939	CLIP-seq
MIRT2303985	hsa-miR-27a	CLIP-seq
MIRT2303986	hsa-miR-27b	CLIP-seq
MIRT2303988	hsa-miR-3125	CLIP-seq
MIRT2303997	hsa-miR-377	CLIP-seq
MIRT2303999	hsa-miR-3916	CLIP-seq
MIRT2304011	hsa-miR-513a-5p	CLIP-seq
MIRT2303985	hsa-miR-27a	CLIP-seq
MIRT2303986	hsa-miR-27b	CLIP-seq
MIRT2303988	hsa-miR-3125	CLIP-seq
MIRT2303997	hsa-miR-377	CLIP-seq
MIRT2303999	hsa-miR-3916	CLIP-seq
MIRT2304000	hsa-miR-3940-3p	CLIP-seq
MIRT2304005	hsa-miR-4712-3p	CLIP-seq
MIRT2304011	hsa-miR-513a-5p	CLIP-seq
MIRT2303985	hsa-miR-27a	CLIP-seq
MIRT2303986	hsa-miR-27b	CLIP-seq
MIRT2303988	hsa-miR-3125	CLIP-seq
MIRT2303997	hsa-miR-377	CLIP-seq
MIRT2303999	hsa-miR-3916	CLIP-seq
MIRT2304000	hsa-miR-3940-3p	CLIP-seq
MIRT2077441	hsa-miR-3942-5p	CLIP-seq
MIRT2077444	hsa-miR-4703-5p	CLIP-seq
MIRT2304005	hsa-miR-4712-3p	CLIP-seq
MIRT2304011	hsa-miR-513a-5p	CLIP-seq

101

Show/Hide all (101)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004672	Function	Protein kinase activity	IDA	24008408, 34593629
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	10770950, 18285462, 19059439
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004697	Function	Diacylglycerol-dependent serine/threonine kinase activity	EXP	12391145, 18285462
GO:0004697	Function	Diacylglycerol-dependent serine/threonine kinase activity	IEA
GO:0004697	Function	Diacylglycerol-dependent serine/threonine kinase activity	TAS
GO:0004699	Function	Diacylglycerol-dependent, calcium-independent serine/threonine kinase activity	IEA
GO:0004699	Function	Diacylglycerol-dependent, calcium-independent serine/threonine kinase activity	ISS
GO:0004699	Function	Diacylglycerol-dependent, calcium-independent serine/threonine kinase activity	TAS	14583092
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	9139733, 10383400, 10948194, 12628935, 12649167, 12721299, 15591124, 16377624, 16611985, 16940418, 19059439, 22465666, 22528498, 23814099, 24396867, 24996056, 25241761, 26112605, 32814053, 34593629
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005634	Component	Nucleus	IDA	15632189, 15774464, 16611985, 18285462
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	15632189, 16611985, 18285462
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	15774464, 18556656
GO:0005829	Component	Cytosol	IDA	10770950, 15774464, 17303575
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	10770950, 15632189, 17303575
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IEA
GO:0006468	Process	Protein phosphorylation	IDA	12649167, 16611985
GO:0006915	Process	Apoptotic process	IDA	10770950, 12649167
GO:0006915	Process	Apoptotic process	IEA
GO:0006974	Process	DNA damage response	IMP	17938203
GO:0007165	Process	Signal transduction	TAS	8357834
GO:0008047	Function	Enzyme activator activity	IDA	16611985
GO:0008270	Function	Zinc ion binding	IEA
GO:0008631	Process	Intrinsic apoptotic signaling pathway in response to oxidative stress	TAS	24522549
GO:0012505	Component	Endomembrane system	IEA
GO:0016020	Component	Membrane	IEA
GO:0016064	Process	Immunoglobulin mediated immune response	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016363	Component	Nuclear matrix	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0018105	Process	Peptidyl-serine phosphorylation	IDA	18285462
GO:0018107	Process	Peptidyl-threonine phosphorylation	IDA	10770950
GO:0019899	Function	Enzyme binding	IPI	16611985, 18556656
GO:0019901	Function	Protein kinase binding	IPI	10713049, 28428613
GO:0023021	Process	Termination of signal transduction	IMP	19279008
GO:0030296	Function	Protein tyrosine kinase activator activity	IDA	10713049
GO:0030837	Process	Negative regulation of actin filament polymerization	IEA
GO:0030837	Process	Negative regulation of actin filament polymerization	ISS
GO:0032079	Process	Positive regulation of endodeoxyribonuclease activity	IMP	19059439
GO:0032930	Process	Positive regulation of superoxide anion generation	IMP	19801500
GO:0032956	Process	Regulation of actin cytoskeleton organization	IMP	22554282
GO:0034351	Process	Negative regulation of glial cell apoptotic process	IMP	15774464
GO:0034644	Process	Cellular response to UV	IDA	17303575
GO:0035556	Process	Intracellular signal transduction	IBA
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0036019	Component	Endolysosome	IDA	17303575
GO:0038096	Process	Fc-gamma receptor signaling pathway involved in phagocytosis	TAS
GO:0042100	Process	B cell proliferation	IEA
GO:0042119	Process	Neutrophil activation	IDA	10770950
GO:0042307	Process	Positive regulation of protein import into nucleus	IMP	19059439
GO:0042742	Process	Defense response to bacterium	IEA
GO:0042742	Process	Defense response to bacterium	ISS
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043409	Process	Negative regulation of MAPK cascade	IMP	19279008
GO:0043488	Process	Regulation of mRNA stability	TAS
GO:0043560	Function	Insulin receptor substrate binding	IEA
GO:0043560	Function	Insulin receptor substrate binding	ISS
GO:0043687	Process	Post-translational protein modification	IDA	19059439
GO:0046627	Process	Negative regulation of insulin receptor signaling pathway	IEA
GO:0046627	Process	Negative regulation of insulin receptor signaling pathway	ISS	14583092
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0050728	Process	Negative regulation of inflammatory response	IMP	19279008
GO:0050821	Process	Protein stabilization	NAS	16611985
GO:0051054	Process	Positive regulation of DNA metabolic process	IEA
GO:0051490	Process	Negative regulation of filopodium assembly	IEA
GO:0051490	Process	Negative regulation of filopodium assembly	ISS
GO:0060326	Process	Cell chemotaxis	IEA
GO:0060326	Process	Cell chemotaxis	IMP	24008408
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070301	Process	Cellular response to hydrogen peroxide	IDA	10713049
GO:0070528	Process	Protein kinase C signaling	IEA
GO:0071398	Process	Cellular response to fatty acid	TAS	14583092
GO:0071447	Process	Cellular response to hydroperoxide	IDA	19059439
GO:0090331	Process	Negative regulation of platelet aggregation	IEA
GO:0090331	Process	Negative regulation of platelet aggregation	ISS
GO:0090398	Process	Cellular senescence	IMP	15282327
GO:0106310	Function	Protein serine kinase activity	IDA	17303575
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0141212	Process	Phospholipase C/protein kinase C signal transduction	IDA	10713049
GO:1900163	Process	Positive regulation of phospholipid scramblase activity	IMP	10770950
GO:1904385	Process	Cellular response to angiotensin	IDA	18285462
GO:2000303	Process	Regulation of ceramide biosynthetic process	IDA	17303575
GO:2000304	Process	Positive regulation of ceramide biosynthetic process	IMP	19279011
GO:2000753	Process	Positive regulation of glucosylceramide catabolic process	IMP	19279011
GO:2000755	Process	Positive regulation of sphingomyelin catabolic process	IMP	19279011
GO:2001235	Process	Positive regulation of apoptotic signaling pathway	IEA

MIM	HGNC	e!Ensembl
176977	9399	ENSG00000163932

Q05655

Protein name

Protein kinase C delta type (EC 2.7.11.13) (Tyrosine-protein kinase PRKCD) (EC 2.7.10.2) (nPKC-delta) [Cleaved into: Protein kinase C delta type regulatory subunit; Protein kinase C delta type catalytic subunit (Sphingosine-dependent protein kinase-1) (SD

Protein function

Calcium-independent, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that plays contrasting roles in cell death and cell survival by functioning as a pro-apoptotic protein during DNA damage-induced apoptosis, but

PDB

1YRK , 2YUU

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00130	C1_1	159 → 211	Phorbol esters/diacylglycerol binding domain (C1 domain)	Domain
PF00130	C1_1	231 → 283	Phorbol esters/diacylglycerol binding domain (C1 domain)	Domain
PF00069	Pkinase	349 → 603	Protein kinase domain	Domain
PF00433	Pkinase_C	624 → 665	Protein kinase C terminal domain	Family

Sequence

MAPFLRIAFNSYELGSLQAEDEANQPFCAVKMKEALSTERGKTLVQKKPTMYPEWKSTFD
AHIYEGRVIQIVLMRAAEEPVSEVTVGVSVLAERCKKNNGKAEFWLDLQPQAKVLMSVQY
FLEDVDCKQSMRSEDEAKFPTMNRRGAIKQAKIHYIKNHEFIATFFGQPTFCSVCKDFVW
GLNKQGYKCRQCNAAIHKKCIDKIIGRCTGTAANSRDTIFQKERFNIDMPHRFKVHNYMS
PTFCDHCGSLLWGLVKQGLKCEDCGMNVHHKCREKVANLCGINQKLLAEALNQVTQRASR
RSDSASSEPVGIYQGFEKKTGVAGEDMQDNSGTYGKIWEGSSKCNINNFIFHKVLGKGSF
GKVLLGELKGRGEYFAIKALKKDVVLIDDDVECTMVEKRVLTLAAENPFLTHLICTFQTK
DHLFFVMEFLNGGDLMYHIQDKGRFELYRATFYAAEIMCGLQFLHSKGIIYRDLKLDNVL
LDRDGHIKIADFGMCKENIFGESRASTFCGTPDYIAPEILQGLKYTFSVDWWSFGVLLYE
MLIGQSPFHGDDEDELFESIRVDTPHYPRWITKESKDILEKLFEREPTKRLGVTGNIKIH
PFFKTINWTLLEKRRLEPPFRPKVKSPRDYSNFDQEFLNEKARLSYSDKNLIDSMDQSAF
AGFSFVNPKFEHLLED

Sequence length

676

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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	Pathogenic; Likely pathogenic	rs781824115, rs2107263484, rs1553669486, rs2107267894, rs2107257357, rs1559629912, rs606231296, rs2471106746, rs2471094850, rs2471099139, rs1703450134, rs1295207359, rs576747810, rs398122958	RCV001385018 RCV001776307 RCV001776308 RCV001776309 RCV001960700 View all (9 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lymphoma	Pathogenic	rs576747810, rs398122958	RCV005909094 RCV005890427	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (31)

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.
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE 1, AUTOSOMAL DOMINANT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE 2B	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL SYSTEMIC LUPUS ERYTHEMATOSUS TYPE 16	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMMON VARIABLE IMMUNODEFICIENCY	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-INDUCED LYMPHOPROLIFERATIVE DISEASE DUE TO PRKCD DEFICIENCY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-INDUCED LYMPHOPROLIFERATIVE DISEASE DUE TO PROTEIN KINASE C DELTA DEFICIENCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER, ALCOHOLIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ 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
INTESTINAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS ERYTHEMATOSUS, SYSTEMIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONALCOHOLIC STEATOHEPATITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSONIAN DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRKCD-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	CTD, ClinGen	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS 16	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (235)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute pancreatitis	Pancreatitis	BEFREE	28704954, 31242405		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	28368426		★★★★★ ★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	30175778		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	18336728, 37418137	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	33083483	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	27915349	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	27910925	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	30049307		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	29955903		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	23454274		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	36782298	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune hemolytic anemia	Autoimmune hemolytic anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Lymphoproliferative Syndrome	Autoimmune Lymphoproliferative Disorder	ORPHANET_DG	23430113		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune lymphoproliferative syndrome	Autoimmune Lymphoproliferative Disorder	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Lymphoproliferative Syndrome	Autoimmune Lymphoproliferative Disorder	BEFREE	26233237		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III	Autoimmune Lymphoproliferative Disorder	GENOMICS_ENGLAND_DG	23430113		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III	Autoimmune Lymphoproliferative Disorder	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Dominant Juvenile Parkinson Disease	Parkinson Disease	CTD_human_DG	15681813		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Parkinsonism	Parkinsonian disease	CTD_human_DG	15681813		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Parkinsonism	Parkinsonian disease	CTD_human_DG	15681813		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal systemic lupus erythematosus	Systemic lupus erythematosus	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	30920605		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	25420887	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19250217, 26083392, 27179744, 29915946, 30265984, 31126309		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17371872, 17965220, 19002183, 19279008, 19833733, 21720730, 26083392, 27036017, 29036789, 31843498, 35301803, 36732634, 40722182	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25225290, 26121314, 26918447, 36851883	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33307168, 33778066, 34609335, 37241771, 37674210	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	27179744, 28368426		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	10748176, 16669786, 17760843, 20459627, 21233420, 9346879	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	28895644		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	27910925, 31356768		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	27910925	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	24385683	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	23454274		★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Diabetes Insipidus	Diabetes Insipidus	BEFREE	30205907		★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	22847611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	22847611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	23320110, 24992595	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	31157943		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	25895139		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	15494216, 15601585, 16052516		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	17760565, 17965192	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	14527959, 15601585, 16052516, 17965192, 36851883, 36982784	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	ORPHANET_DG	23319571		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Common variable immunodeficiency	Common Variable Immunodeficiency	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complex partial seizures	Seizure	CTD_human_DG	25895139		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	30058987		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coombs positive hemolytic anemia	Coombs Positive Hemolytic Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	31272567		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	10634929, 24223826	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	28903517		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	BEFREE	29201216, 31248834		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	LHGDN	17311929		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	29498756	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	24407239		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	24407239		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	35628588	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	29036789	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27884012, 28895644		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	BEFREE	28895644		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	25371776	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic Nephropathy	LHGDN	12634498		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	24631337		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	35585372	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	35585372	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	28288576		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	17965220	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial Hyperplasia	BEFREE	28638475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	17959229, 21079811	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	31572289		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	25895139		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	30361064	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Juvenile Parkinsonism	Parkinsonian disease	CTD_human_DG	15681813		★★★★★ ★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	BEFREE	30297499		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibroadenoma of breast	Fibroadenoma Of Breast	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CTD_human_DG	25895139		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	LHGDN	15618223		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	15618223, 20669099, 36732634	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	21878493		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Granulomatous Disease Chronic	Granulomatous disease	Pubtator	35585372	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	25420887	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	30058987		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	35301803	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Histiocytoma, Benign Fibrous	Benign fibrous histiocytoma	BEFREE	26121314, 26432191		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	LHGDN	18974277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	24631337		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	29036789	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypersplenism	Hypersplenism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CTD_human_DG	23973649		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoxia	Hypoxia	Pubtator	17608772	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	24500281, 29272263	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	28595696		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	33308192	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Cancer	Intestinal Cancer	CTD_human_DG	11983831		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	CTD_human_DG	11983831		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	27884012, 31492643		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	27678044		★★★★★ ★☆☆☆☆ Found in Text Mining only
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	25895139		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	25371776	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	30212930	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Left-Sided Heart Failure	Heart Failure	BEFREE	28765942		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	15308560, 19662097, 19995395, 22356114, 33556471	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	17130834		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	15845901, 20472553, 35895896	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	22356114	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	19747914		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	26212029	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	LHGDN	18342628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	18342628, 24500281, 29849902	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	16410245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	21335545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26918447, 28368426, 30537515, 36482371	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	31401343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	15379867	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	17911642, 22549474, 23285258, 23666743, 27915349, 29177435, 30257684	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	31401343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	27541826, 29177435, 31401343		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Vulgaris	Lupus Vulgaris	BEFREE	31401343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphocytosis	Lymphocytosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	25991819		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lymphoma	Lymphoma	Pubtator	25991819	Inhibit	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lymphoma	Lymphoma	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lymphopenia	Lymphopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	27884012		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	BEFREE	21822543		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19250217, 26083392, 27179744, 29915946, 30265984, 31126309		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	27179744, 28368426		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	14656938, 24183997, 24506253, 28756980, 30120041, 31272567		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	22847611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	15735693, 15824731, 19002183		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	25419709		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	24506253	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	31233857		★★★★★ ★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	21780859		★★★★★ ★☆☆☆☆ Found in Text Mining only
MERRF Syndrome	MERRF Syndrome	LHGDN	16785027		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	23221613		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	LHGDN	16785027		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	29849902	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	11485567, 12786795, 22435755	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	23469041	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19048456, 20093486, 21335545, 21822543, 25015091, 27179744, 28368426, 28756980, 29990570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	21822543		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	15189345, 21326872	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29335220, 29920240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	29046367		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	CTD_human_DG	29341352		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28368426		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	CTD_human_DG	29341352		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ophthalmoplegia Chronic Progressive External	Progressive external ophthalmoplegia	Pubtator	19477272	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Neuritis	Optic Neuritis	BEFREE	31401426		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	17311929	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	30539271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	28339053	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	28081739	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	40269926	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	19190347		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	17374730, 19190347	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	28704954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Panniculitis	Panniculitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	25342743		★★★★★ ★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	Parkinson Disease	CTD_human_DG	15681813		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	CTD_human_DG	15681813		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonism, Juvenile	Parkinsonian disease	CTD_human_DG	15681813		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	37233978	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Priapism	Priapism	BEFREE	29960632		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary central nervous system lymphoma	Central Nervous System Lymphoma	BEFREE	25991819		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	12824193, 16183650, 17553165, 19117992, 19667069, 20566643, 23559010, 23826267, 27196755, 29048618, 32427575	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	17178875, 18006831		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	29214289		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	29849902	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	LHGDN	15133032		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ramsay Hunt Paralysis Syndrome	Ramsay Hunt Paralysis Syndrome	CTD_human_DG	15681813		★★★★★ ★☆☆☆☆ Found in Text Mining only
Recurrent aphthous ulcer	Aphthous Ulcer	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Recurrent bronchitis	Bronchitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Right Ventricular Hypertrophy	Ventricular hypertrophy	BEFREE	28765942		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	26356721, 29214289		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scleroderma	Scleroderma	BEFREE	21321929		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	38166692	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sepsis	Sepsis	Pubtator	27442243	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	30400800		★★★★★ ★☆☆☆☆ Found in Text Mining only
Single Seizure	Seizure	CTD_human_DG	25895139		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	20093486		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	LHGDN	15942654		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Meningioma	Spinal Meningioma	BEFREE	30802771		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 10	Spinocerebellar ataxia	Pubtator	20548952	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Split hand foot deformity 1	Split hand foot deformity	BEFREE	30828728		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	20093486, 28756980		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of oropharynx	Oropharyngeal carcinoma	BEFREE	29327784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	16055706, 26811494	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
SYSTEMIC LUPUS ERYTHEMATOSUS 16	Systemic lupus erythematosus	ORPHANET_DG	23712425		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Systemic Scleroderma	Scleroderma	BEFREE	21321929		★★★★★ ★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	27081176	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	30257684	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	36217175	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	16646678		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	25895139		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	33411917	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	22653968	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveomeningoencephalitic Syndrome	Uveomeningoencephalitic syndrome	Pubtator	36782298	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Visual seizure	Seizure	CTD_human_DG	25895139		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	28129744	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom`s Macroglobulinemia	BEFREE	22099500		★★★★★ ★☆☆☆☆ Found in Text Mining only

PRKCD (protein kinase C delta)