PRKCD (protein kinase C delta)

Gene

• Entrez ID: 5580
• Gene name: Protein kinase C delta
• Gene symbol: PRKCD
• Synonyms (NCBI Gene): ALPS3, CVID9, MAY1, PKCD, nPKC-delta
• Disease Acronyms (UniProt): ALPS3
• 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

SNPs

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

miRNA

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 assay, Western 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-PCR, Luciferase reporter assay, Western blot	25174404
MIRT163342	hsa-miR-181a-5p	qRT-PCR, Luciferase reporter assay, Western 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 assay, Western blotting, Immunoprecipitaion (IP), qRT-PCR, ELISA	31907356
MIRT163340	hsa-miR-26b-5p	Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), qRT-PCR, ELISA	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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002223	Process	Stimulatory C-type lectin receptor signaling pathway	TAS
GO:0004672	Function	Protein kinase activity	IDA	24008408
GO:0004674	Function	Protein serine/threonine kinase activity	EXP	12391145, 18285462
GO:0004674	Function	Protein serine/threonine kinase activity	IBA	21873635
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	10770950, 18285462, 19059439
GO:0004697	Function	Protein kinase C activity	ISS
GO:0004698	Function	Calcium-dependent protein kinase C activity	IEA
GO:0004699	Function	Calcium-independent protein kinase C activity	TAS	14583092
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, 22465666, 22528498, 23814099, 24396867, 24996056, 25241761, 26112605, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005634	Component	Nucleus	IDA	15632189, 15774464, 16611985, 18285462
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	15632189, 16611985, 18285462
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	TAS
GO:0005911	Component	Cell-cell junction	IEA
GO:0006468	Process	Protein phosphorylation	IDA	10713049, 12649167, 16611985
GO:0006915	Process	Apoptotic process	IDA	10770950, 12649167
GO:0007049	Process	Cell cycle	IEA
GO:0007165	Process	Signal transduction	TAS	8357834
GO:0008047	Function	Enzyme activator activity	IDA	16611985
GO:0008631	Process	Intrinsic apoptotic signaling pathway in response to oxidative stress	TAS	24522549
GO:0010469	Process	Regulation of signaling receptor activity	TAS	14583092
GO:0016064	Process	Immunoglobulin mediated immune response	IEA
GO:0016363	Component	Nuclear matrix	IEA
GO:0016572	Process	Histone phosphorylation	IDA	19059439
GO:0018105	Process	Peptidyl-serine phosphorylation	IBA	21873635
GO:0018105	Process	Peptidyl-serine phosphorylation	IDA	18285462
GO:0018107	Process	Peptidyl-threonine phosphorylation	IDA	10770950
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	IEA
GO:0019899	Function	Enzyme binding	IDA	18556656
GO:0019899	Function	Enzyme binding	IPI	16611985, 19059439
GO:0019900	Function	Kinase binding	IPI	19059439
GO:0019901	Function	Protein kinase binding	IPI	10713049, 28428613
GO:0023021	Process	Termination of signal transduction	IMP	19279008
GO:0030168	Process	Platelet activation	TAS
GO:0030837	Process	Negative regulation of actin filament polymerization	ISS
GO:0032079	Process	Positive regulation of endodeoxyribonuclease activity	IMP	19059439
GO:0032091	Process	Negative regulation of protein binding	TAS	14583092
GO:0032147	Process	Activation of protein kinase activity	IDA	10713049
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:0035307	Process	Positive regulation of protein dephosphorylation	IMP	19279008
GO:0035556	Process	Intracellular signal transduction	IBA	21873635
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	ISS
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0043407	Process	Negative regulation of MAP kinase activity	IMP	19279008
GO:0043488	Process	Regulation of mRNA stability	TAS
GO:0043560	Function	Insulin receptor substrate binding	ISS
GO:0046627	Process	Negative regulation of insulin receptor signaling pathway	ISS
GO:0046627	Process	Negative regulation of insulin receptor signaling pathway	TAS	14583092
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0050728	Process	Negative regulation of inflammatory response	IC	19279008
GO:0050732	Process	Negative regulation of peptidyl-tyrosine phosphorylation	ISS	14583092
GO:0050821	Process	Protein stabilization	NAS	16611985
GO:0051490	Process	Negative regulation of filopodium assembly	ISS
GO:0060326	Process	Cell chemotaxis	IMP	24008408
GO:0060333	Process	Interferon-gamma-mediated signaling pathway	TAS
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070301	Process	Cellular response to hydrogen peroxide	IDA	10713049
GO:0071447	Process	Cellular response to hydroperoxide	IDA	19059439
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: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:2001022	Process	Positive regulation of response to DNA damage stimulus	IMP	17938203
GO:2001235	Process	Positive regulation of apoptotic signaling pathway	IEA

Other IDs

• MIM: 176977
• HGNC: 9399
• e!Ensembl: ENSG00000163932

Protein

• UniProt ID: 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

Pathways

KEGG:

Chemokine signaling pathway
Autophagy - animal
Vascular smooth muscle contraction
NOD-like receptor signaling pathway
C-type lectin receptor signaling pathway
Fc gamma R-mediated phagocytosis
Neurotrophin signaling pathway
Inflammatory mediator regulation of TRP channels
GnRH signaling pathway
Estrogen signaling pathway
Type II diabetes mellitus
Insulin resistance
AGE-RAGE signaling pathway in diabetic complications
Prion disease
Shigellosis
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy

Reactome:

Apoptotic cleavage of cellular proteins
Calmodulin induced events
Effects of PIP2 hydrolysis
SHC1 events in ERBB2 signaling
DAG and IP3 signaling
Role of phospholipids in phagocytosis
HuR (ELAVL1) binds and stabilizes mRNA
VEGFR2 mediated cell proliferation
CLEC7A (Dectin-1) signaling
RHO GTPases Activate NADPH Oxidases
Neutrophil degranulation
Interferon gamma signaling

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Anemia	Anemia, Hemolytic	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Arthritis	Arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Autoimmune lymphoproliferative disorder	Autoimmune Lymphoproliferative Syndrome, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, Autoimmune lymphoproliferative syndrome	rs17860424, rs112445441, rs121913529, rs121434596, rs80358236, rs606231361, rs606231362, rs121913076, rs606231363, rs121913077, rs28929498, rs121913080, rs267607122, rs606231364, rs606231365, rs121913085, rs606231366, rs121913086, rs121913237, rs121913535, rs398122958, rs606231296, rs886039524, rs121913527, rs1554851718, rs1295207359, rs1564699214, rs1564686301, rs1564696849, rs1564691414, rs747862347, rs1589482683, rs1589488463, rs1589488640, rs1589488494, rs1589465172, rs1589478691, rs1589485636, rs778993919, rs1842954041, rs1848315820, rs1207744817, rs1848558128, rs1848671126, rs1848675068, rs1848019699	23430113
Bronchiectasis	Bronchiectasis	rs121908758, rs121908811, rs76649725, rs267606722, rs121909008, rs387906360, rs387906361, rs80034486, rs74767530, rs121908776, rs121909012, rs77646904, rs121908754, rs121909015, rs121909016, rs387906365, rs80055610, rs75528968, rs121908748, rs77932196, rs121909026, rs121908751, rs121908750, rs746418935, rs79282516, rs77409459, rs121909031, rs76554633, rs75115087, rs79633941, rs387906375, rs75389940, rs121909043, rs387906379, rs121908784, rs121909047, rs137852709, rs1596894031, rs137852710, rs61759860, rs121908805, rs193922501, rs193922503, rs193922504, rs1554389296, rs121908812, rs74467662, rs193922510, rs193922514, rs121908797, rs193922515, rs76151804, rs78984783, rs77035409, rs193922532, rs121908767, rs77188391, rs121908789, rs121908779, rs36210737, rs121908763, rs121908794, rs121908796, rs121908772, rs79031340, rs397508137, rs397508139, rs121908774, rs397508150, rs397508152, rs397508158, rs397508165, rs397508168, rs397508173, rs397508192, rs397508196, rs397508200, rs397508205, rs397508208, rs397508211, rs397508222, rs397508225, rs397508231, rs397508243, rs397508251, rs397508261, rs397508272, rs397508273, rs397508276, rs397508295, rs397508296, rs397508298, rs397508300, rs77284892, rs397508310, rs201978662, rs201124247, rs121908780, rs397508331, rs397508333, rs397508339, rs397508341, rs121908760, rs397508350, rs397508353, rs121908810, rs397508360, rs374946172, rs145449046, rs397508377, rs397508379, rs397508380, rs397508386, rs397508387, rs397508393, rs397508399, rs397508400, rs397508412, rs397508413, rs121909034, rs149790377, rs121908792, rs397508426, rs397508431, rs397508441, rs397508451, rs397508461, rs397508479, rs397508482, rs397508496, rs397508498, rs397508506, rs397508510, rs142394380, rs121909036, rs139304906, rs121908798, rs397508532, rs397508535, rs146521846, rs139729994, rs397508570, rs397508572, rs77834169, rs78655421, rs121908765, rs397508595, rs397508596, rs397508600, rs397508604, rs397508609, rs397508616, rs397508620, rs397508624, rs121908808, rs397508635, rs397508636, rs397508637, rs397508658, rs397508673, rs397508680, rs397508686, rs76371115, rs397508702, rs397508706, rs397508712, rs397508715, rs397508721, rs397508732, rs397508734, rs397508740, rs121908771, rs397508761, rs78440224, rs121908793, rs397508767, rs121908803, rs397508777, rs397508784, rs397508791, rs397508796, rs397508799, rs397508805, rs397508808, rs397508809, rs397508824, rs786204693, rs755416052, rs397508263, rs1057516619, rs397508176, rs1057516415, rs1057516970, rs754392413, rs1057516457, rs397508709, rs1060503164, rs775663783, rs397508294, rs1554380497, rs397508163, rs121908785, rs1235397597, rs397508405, rs1554392800, rs375661578, rs397508693, rs766063304, rs141482808, rs1290078234, rs756219310, rs1554390958, rs1555112332, rs750559671, rs533959068, rs1554389062, rs1554389486, rs1330431481, rs193922730, rs779177972, rs1562928997, rs1562908997, rs1562876459, rs1584785196, rs1584786454, rs1299250440, rs1584837090, rs1584764596, rs1584812425
Burkitt`s lymphoma	Burkitt Lymphoma	rs28933407, rs121918683, rs121918684
Carcinoma	Carcinoma, Basal Cell	rs121912654, rs555607708, rs786202962, rs1564055259
Common variable immunodeficiency	Common Variable Immunodeficiency, Common variable immunodeficiency	rs72553883, rs121908379, rs104894650, rs587776775, rs398122863, rs398122864, rs397514332, rs397514331, rs727502786, rs727502787, rs72553882, rs869320688, rs869320689, rs869320754, rs773694113, rs1553319504, rs201017642, rs1555550717, rs1558192723, rs1030733127, rs749636258, rs185689791, rs1559035937, rs1565214594, rs1560679469, rs1560711146, rs1569376229, rs1578790573, rs939459600, rs1572952530, rs1572950925, rs772481080, rs369363360, rs72553885, rs72553879, rs1265262160, rs1303637368, rs757598952, rs1016142312, rs1578771120, rs1578771197, rs1578793298, rs1578793312, rs1578809101, rs1578811073, rs1590715754, rs144718007, rs759649059, rs1723945421, rs2061279365	23319571
Gastrointestinal stromal tumor	Gastrointestinal Stromal Tumors	rs587776653, rs74315368, rs74315369, rs587776793, rs587776794, rs587776795, rs606231209, rs121908589, rs121913685, rs121913680, rs794726675, rs587776804, rs121913517, rs121913234, rs121913512, rs267607032, rs387906780, rs201286421, rs587778661, rs587781270, rs587782243, rs74315370, rs587782703, rs786203457, rs764575966, rs786203251, rs587782604, rs200245469, rs397516836, rs786202732, rs786201161, rs786201063, rs751000085, rs869025568, rs876660642, rs876658713, rs151170408, rs878854632, rs752360961, rs121913235, rs121913521, rs121913513, rs1057519708, rs1057519710, rs121913514, rs1057519713, rs778582853, rs1060503757, rs1060502521, rs1060502543, rs898854295, rs981049067, rs916516745, rs1553887262, rs1057520032, rs1553887960, rs775143272, rs1560395607, rs1560418178, rs751904543, rs1560420761, rs1560417385, rs1560417396, rs1560417427, rs1560417438, rs1560417535, rs1560417642, rs1560417666, rs1560417673, rs1577992594, rs1577995761, rs1578003055, rs1301704156, rs1734957331
Glomerulonephritis	Glomerulonephritis	rs778043831
Hydrops fetalis	Hydrops Fetalis	rs28935477, rs1131691986
Hypertension	Hypertensive disease	rs13306026	23973649
Lymphoma	Lymphoma	rs11540652, rs1592119138, rs1592123162, rs1599367044
Nephrotic syndrome	Nephrotic Syndrome	rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391
Parkinson disease	Parkinsonian Disorders, Autosomal Dominant Juvenile Parkinson Disease, PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121918104, rs1589451049, rs104893877, rs104893878, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106	15681813
Pulmonary fibrosis	Pulmonary Fibrosis	rs121918666, rs199422300, rs121917834, rs199422294, rs201159197, rs199422297, rs199422305, rs751381953, rs876661305, rs878853260, rs1555811762, rs1060502990, rs1555903332, rs1554038539, rs1554042899, rs938938578
Renal insufficiency	Renal Insufficiency	rs1596536873
Seizure	Complex partial seizures, Generalized seizures, Visual seizure, Tonic - clonic seizures, Single Seizure	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130	25895139
Systemic lupus erythematosus	SYSTEMIC LUPUS ERYTHEMATOSUS 16, Autosomal systemic lupus erythematosus	rs72556554, rs1575496354, rs1307379746, rs758750492, rs1575497576	23712425
Vasculitis	Vasculitis	rs376785840, rs587777240, rs200930463, rs587777241, rs77563738, rs202134424, rs148936893, rs587777242, rs775440641, rs770689762, rs45511697, rs139750129, rs756881285, rs747774101, rs1568966771, rs766602945, rs1601419986, rs1489114116, rs754904956, rs755007390, rs368615054

Unknown
Disease term	Disease name	Evidence	References	Source
Otitis media	Chronic otitis media			ClinVar
Autoimmune Lymphoproliferative Disorder	autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD, autoimmune lymphoproliferative syndrome			GenCC
Common Variable Immunodeficiency	common variable immunodeficiency			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	17608772
Adenocarcinoma of Lung	Associate	16055435, 36254009, 38186574
Adenoma	Associate	25371776
Alzheimer Disease	Associate	18336728, 37418137
Aortic Dissection	Associate	33083483
Arthritis Rheumatoid	Associate	27915349
Arthropathy progressive pseudorheumatoid of childhood	Associate	17200207
Atherosclerosis	Associate	27910925
Autoimmune Diseases	Associate	36782298
Bone Diseases Metabolic	Associate	25420887
Breast Neoplasms	Associate	17371872, 17965220, 19002183, 19279008, 19833733, 21720730, 26083392, 27036017, 29036789, 31843498, 35301803, 36732634, 40722182
Calcinosis Cutis	Associate	26121314
Carcinogenesis	Associate	25225290, 26121314, 26918447, 36851883
Carcinoma Hepatocellular	Associate	33307168, 33778066, 34609335, 37241771, 37674210
Carcinoma Non Small Cell Lung	Associate	26918447, 30537515, 35039611, 36482371
Carcinoma Renal Cell	Associate	10748176, 16669786, 17760843, 20459627, 21233420, 9346879
Cardiovascular Diseases	Associate	27910925
Cartilage Diseases	Associate	24385683
Cell Transformation Neoplastic	Associate	21886838
Chondrosarcoma	Associate	23320110, 24992595
Colonic Neoplasms	Associate	17760565, 17965192
Colorectal Neoplasms	Associate	14527959, 15601585, 16052516, 17965192, 36851883, 36982784
Cystic Fibrosis	Associate	10634929, 24223826
Dermatitis Atopic	Associate	29498756
Diabetes Mellitus	Associate	35628588
Diabetes Mellitus Type 2	Associate	29036789
Diabetic Nephropathies	Stimulate	25371776
Disease	Associate	23454274
Drug Related Side Effects and Adverse Reactions	Stimulate	21326872
Drug Related Side Effects and Adverse Reactions	Associate	30194076
Dystonic Disorders	Inhibit	35585372
Dystonic Disorders	Associate	35585372
Endocrine System Diseases	Associate	17965220
Endometrial Neoplasms	Associate	17959229, 21079811
Esophageal Squamous Cell Carcinoma	Associate	30361064
Fever	Associate	20569108
Genetic Diseases Inborn	Associate	23666743
Glioblastoma	Associate	15618223, 20669099, 36732634
Granulomatous Disease Chronic	Associate	35585372
Heart Diseases	Associate	25420887
Hepatitis B	Inhibit	35301803
Histiocytoma Benign Fibrous	Associate	26121314
Hyperglycemia	Associate	29036789
Hypoxia	Stimulate	17608772
Hypoxia	Associate	24500281, 29272263
Hypoxia Brain	Associate	24500281
Immunologic Deficiency Syndromes	Stimulate	23319571
Inflammation	Associate	18650365, 22048166, 23826267, 35409338, 36782298
Insulin Resistance	Associate	33308192
Kidney Diseases	Associate	25371776
Kidney Failure Chronic	Associate	30212930
Leukemia	Associate	15308560, 19662097, 19995395, 22356114, 33556471
Leukemia B Cell	Associate	23319571
Leukemia Erythroblastic Acute	Associate	31545282
Leukemia Lymphocytic Chronic B Cell	Associate	12393602
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	14670960, 15850832
Leukemia Myeloid Acute	Associate	15845901, 20472553, 35895896
Leukemia Prolymphocytic T Cell	Associate	19995395
Leukemia Promyelocytic Acute	Associate	22356114
Liver Failure	Stimulate	26212029
Lung Diseases	Associate	18342628, 24500281, 29849902
Lung Injury	Associate	27442243
Lung Neoplasms	Associate	26918447, 28368426, 30537515, 36482371
Lupus Erythematosus Systemic	Inhibit	15379867
Lupus Erythematosus Systemic	Associate	17911642, 22549474, 23285258, 23666743, 27915349, 29177435, 30257684
Lymphoma	Inhibit	25991819
Lymphoma T Cell Cutaneous	Associate	33922439
Malformations of Cortical Development Group I	Inhibit	19833733
Malformations of Cortical Development Group I	Associate	29048618
Melanoma	Associate	24506253
Mitochondrial Diseases	Associate	29849902
Multiple Myeloma	Associate	11485567, 12786795, 22435755
Multiple Sclerosis	Associate	23469041
Neoplasm Invasiveness	Associate	17200207
Neoplasm Metastasis	Associate	26847170
Neoplasms	Inhibit	12097319, 14699137, 15601585, 17959229, 35039611
Neoplasms	Stimulate	16508638
Neoplasms	Associate	17760843, 19002183, 19549763, 19632318, 22848562, 24030148, 25104022, 25372487, 25420887, 26121314, 26918447, 31843498, 36217175, 36482371, 36732634, 36851883, 36982784, 40722182
Nerve Degeneration	Associate	25590633
Neuroblastoma	Associate	15189345, 21326872
Neurologic Manifestations	Associate	25590633
Non alcoholic Fatty Liver Disease	Associate	29046367, 29341352
Ophthalmoplegia Chronic Progressive External	Associate	19477272
Osteoarthritis	Associate	17311929
Osteosarcoma	Associate	28339053
Ovarian Neoplasms	Associate	28081739
Ovarian Neoplasms	Stimulate	40269926
Pancreatic Neoplasms	Associate	17374730, 19190347
Pituitary Neoplasms	Associate	37233978
Plasma Cell Granuloma Pulmonary	Associate	27442243
Post Infectious Disorders	Associate	22048166
Primary Immunodeficiency Diseases	Associate	38644452
Primary Myelofibrosis	Associate	27081176
Prostatic Neoplasms	Associate	12824193, 16183650, 17553165, 19117992, 19667069, 20566643, 23559010, 23826267, 27196755, 29048618, 32427575
Prostatitis	Associate	27196755
Protein C Deficiency	Inhibit	23319571
Protein C Deficiency	Associate	30257684
Pulmonary Disease Chronic Obstructive	Associate	29849902
Seizures	Associate	38166692
Sepsis	Associate	27442243
Spinocerebellar Ataxia 10	Associate	20548952
Stomach Neoplasms	Associate	16055706, 26811494
Thrombocythemia Essential	Associate	27081176
Thrombocytopenia	Associate	30257684
Thyroid Cancer Papillary	Associate	36217175
Triple Negative Breast Neoplasms	Associate	33411917
Urethral Neoplasms	Associate	36862682
Uveal melanoma	Associate	22653968
Uveomeningoencephalitic Syndrome	Associate	36782298
Vitiligo	Associate	28129744