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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	5582
Gene name	Protein kinase C gamma
Gene symbol	PRKCG
Synonyms (NCBI Gene)	PKC-gammaPKCCPKCGPKCI(3)PKCgammaSCA14
Chromosome	19
Chromosome location	19q13.42
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

Show/Hide all (32)

SNP ID	Visualize variation	Clinical significance	Consequence
rs78437096	T>A,C,G	Benign, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs121918511	C>T	Pathogenic	Coding sequence variant, missense variant
rs121918512	T>C	Pathogenic	Coding sequence variant, missense variant
rs121918513	G>A	Pathogenic	Coding sequence variant, missense variant
rs121918514	G>A	Pathogenic	Coding sequence variant, missense variant
rs121918515	A>G	Pathogenic	Coding sequence variant, missense variant
rs121918516	T>C	Pathogenic	Coding sequence variant, missense variant
rs121918517	A>C,G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs121918518	C>G	Pathogenic	Coding sequence variant, missense variant
rs386134157	A>G	Pathogenic	Missense variant, coding sequence variant
rs386134158	G>C	Pathogenic	Missense variant, coding sequence variant
rs386134159	G>T	Pathogenic	Missense variant, coding sequence variant
rs386134160	T>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs386134161	ACACAA>-	Pathogenic	Coding sequence variant, inframe deletion
rs386134162	G>A	Pathogenic	Missense variant, coding sequence variant
rs386134163	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs386134164	G>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs386134165	G>A	Pathogenic	Missense variant, coding sequence variant
rs386134166	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs386134167	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs386134168	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs386134169	C>A	Pathogenic	Missense variant, coding sequence variant
rs386134170	GC>TT	Pathogenic	Missense variant, coding sequence variant
rs386134171	G>A	Pathogenic	Missense variant, coding sequence variant
rs387906679	G>T	Pathogenic	Coding sequence variant, missense variant
rs797045900	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1303074743	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1406338491	G>A,T	Likely-pathogenic	Splice donor variant
rs1555806333	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555808841	GTAATCTCACCCGCCGCCACTAGGTGTCCCCAACGTCCCCTCCGCCGTGCCGGCGGCAGCCCCACTTCACCCCCAACTTCACCACCCCCTGTCCCATTCTAG>-	Pathogenic	Stop lost, terminator codon variant, splice donor variant, inframe indel, intron variant, 3 prime UTR variant, splice acceptor variant
rs1599938631	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1599943097	C>A	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all (26)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017708	hsa-miR-335-5p	Microarray	18185580
MIRT1263248	hsa-miR-3150b-3p	CLIP-seq
MIRT1263249	hsa-miR-4779	CLIP-seq
MIRT1263250	hsa-miR-4784	CLIP-seq
MIRT1263251	hsa-miR-765	CLIP-seq
MIRT1552563	hsa-miR-1243	CLIP-seq
MIRT1552564	hsa-miR-1281	CLIP-seq
MIRT1552565	hsa-miR-3654	CLIP-seq
MIRT1263249	hsa-miR-4779	CLIP-seq
MIRT1263251	hsa-miR-765	CLIP-seq
MIRT1552563	hsa-miR-1243	CLIP-seq
MIRT1552564	hsa-miR-1281	CLIP-seq
MIRT2077475	hsa-miR-1324	CLIP-seq
MIRT1552565	hsa-miR-3654	CLIP-seq
MIRT2077476	hsa-miR-4475	CLIP-seq
MIRT1263249	hsa-miR-4779	CLIP-seq
MIRT2077477	hsa-miR-615-3p	CLIP-seq
MIRT1263251	hsa-miR-765	CLIP-seq
MIRT1263248	hsa-miR-3150b-3p	CLIP-seq
MIRT2457162	hsa-miR-4693-3p	CLIP-seq
MIRT1263250	hsa-miR-4784	CLIP-seq
MIRT1263251	hsa-miR-765	CLIP-seq
MIRT1263248	hsa-miR-3150b-3p	CLIP-seq
MIRT2457162	hsa-miR-4693-3p	CLIP-seq
MIRT1263250	hsa-miR-4784	CLIP-seq
MIRT1263251	hsa-miR-765	CLIP-seq

Show/Hide all (73)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004672	Function	Protein kinase activity	IDA	15808853
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: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	23115168
GO:0004698	Function	Calcium,diacylglycerol-dependent serine/threonine kinase activity	IEA
GO:0004712	Function	Protein serine/threonine/tyrosine kinase activity	IDA	22797923
GO:0005515	Function	Protein binding	IPI	22939624, 28514442, 31980649, 32707033, 32814053, 33961781, 36931259
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005911	Component	Cell-cell junction	IEA
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IDA	23115168
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IEA
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007611	Process	Learning or memory	IEA
GO:0007635	Process	Chemosensory behavior	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0009636	Process	Response to toxic substance	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0031397	Process	Negative regulation of protein ubiquitination	IDA	15808853
GO:0031397	Process	Negative regulation of protein ubiquitination	IEA
GO:0032095	Process	Regulation of response to food	IEA
GO:0032095	Process	Regulation of response to food	ISS
GO:0032425	Process	Positive regulation of mismatch repair	IDA	15808853
GO:0035556	Process	Intracellular signal transduction	IBA
GO:0042177	Process	Negative regulation of protein catabolic process	IDA	15808853
GO:0042752	Process	Regulation of circadian rhythm	IEA
GO:0042752	Process	Regulation of circadian rhythm	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043278	Process	Response to morphine	IEA
GO:0043278	Process	Response to morphine	ISS
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	ISS
GO:0044305	Component	Calyx of Held	IEA
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048265	Process	Response to pain	IEA
GO:0048265	Process	Response to pain	ISS
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	ISS
GO:0048511	Process	Rhythmic process	IEA
GO:0050764	Process	Regulation of phagocytosis	IEA
GO:0060291	Process	Long-term synaptic potentiation	IEA
GO:0060384	Process	Innervation	IEA
GO:0097060	Component	Synaptic membrane	IEA
GO:0099171	Process	Presynaptic modulation of chemical synaptic transmission	IEA
GO:0099523	Component	Presynaptic cytosol	IEA
GO:0099524	Component	Postsynaptic cytosol	IEA
GO:0099524	Component	Postsynaptic cytosol	IEA
GO:0099524	Component	Postsynaptic cytosol	TAS	23115168
GO:0099538	Process	Synaptic signaling via neuropeptide	IDA	24357660
GO:0099538	Process	Synaptic signaling via neuropeptide	ISS
GO:0106310	Function	Protein serine kinase activity	IEA
GO:1901799	Process	Negative regulation of proteasomal protein catabolic process	IEA
GO:1901799	Process	Negative regulation of proteasomal protein catabolic process	ISS
GO:1990776	Process	Response to angiotensin	IEA
GO:1990911	Process	Response to psychosocial stress	IEA
GO:2000300	Process	Regulation of synaptic vesicle exocytosis	IEA

MIM	HGNC	e!Ensembl
176980	9402	ENSG00000126583

P05129

Protein name

Protein kinase C gamma type (PKC-gamma) (EC 2.7.11.13)

Protein function

Calcium-activated, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that plays diverse roles in neuronal cells and eye tissues, such as regulation of the neuronal receptors GRIA4/GLUR4 and GRIN1/NMDAR1, modulation

PDB

2E73 , 2UZP

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00130	C1_1	36 → 88	Phorbol esters/diacylglycerol binding domain (C1 domain)	Domain
PF00130	C1_1	101 → 153	Phorbol esters/diacylglycerol binding domain (C1 domain)	Domain
PF00168	C2	171 → 277	C2 domain	Domain
PF00069	Pkinase	351 → 613	Protein kinase domain	Domain
PF00433	Pkinase_C	639 → 675	Protein kinase C terminal domain	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in Purkinje cells of the cerebellar cortex. {ECO:0000269|PubMed:12644968}.

Sequence

MAGLGPGVGDSEGGPRPLFCRKGALRQKVVHEVKSHKFTARFFKQPTFCSHCTDFIWGIG
KQGLQCQVCSFVVHRRCHEFVTFECPGAGKGPQTDDPRNKHKFRLHSYSSPTFCDHCGSL
LYGLVHQGMKCSCCEMNVHRRCVRSVPSLCGVDHTERRGRLQLEIRAPTADEIHVTVGEA
RNLIPMDPNGLSDPYVKLKLIPDPRNLTKQKTRTVKATLNPVWNETFVFNLKPGDVERRL
SVEVWDWDRTSRNDFMGAMSFGVSELLKAPVDGWYKLLNQEEGEYYNVPVADADNCSLLQ
KFEACNYPLELYERVRMGPSSSPIPSPSPSPTDPKRCFFGASPGRLHISDFSFLMVLGKG
SFGKVMLAERRGSDELYAIKILKKDVIVQDDDVDCTLVEKRVLALGGRGPGGRPHFLTQL
HSTFQTPDRLYFVMEYVTGGDLMYHIQQLGKFKEPHAAFYAAEIAIGLFFLHNQGIIYRD
LKLDNVMLDAEGHIKITDFGMCKENVFPGTTTRTFCGTPDYIAPEIIAYQPYGKSVDWWS
FGVLLYEMLAGQPPFDGEDEEELFQAIMEQTVTYPKSLSREAVAICKGFLTKHPGKRLGS
GPDGEPTIRAHGFFRWIDWERLERLEIPPPFRPRPCGRSGENFDKFFTRAAPALTPPDRL
VLASIDQADFQGFTYVNPDFVHPDARSPTSPVPVPVM

Sequence length

697

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
Hereditary ataxia	Likely pathogenic	rs1486368788	RCV001696755	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinocerebellar ataxia type 14	Likely pathogenic; Pathogenic	rs2122988567, rs121918515, rs955612922, rs749266717, rs386134172, rs2122988484, rs973767996, rs2122988688, rs2122973105, rs2122976509, rs797045900, rs121918511, rs121918512, rs121918513, rs121918514 View all (22 more)	RCV001647199 RCV001647231 RCV001647203 RCV001647201 RCV001647200 View all (33 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (12)

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.
ATAXIA, SPINOCEREBELLAR	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant cerebellar ataxia	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Autosomal recessive spinocerebellar ataxia 14	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar ataxia	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPERALGESIA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRKCG-related disorder	Likely benign; Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 14	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIAS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRIGEMINAL NEURALGIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (81)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Ataxia	Ataxia	Pubtator	22675081, 24030952, 29603387, 32338350, 33739604, 34292398	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	LHGDN	14676051, 15964845, 17562946		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	16409551, 16547918, 16828200, 19488825		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	CTD_human_DG	20398063		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33962648	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	37773536	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36672978	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	20459627	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	12644968, 22675081, 29603387, 37101238, 38072404	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cerebellar atrophy	Cerebellar atrophy	BEFREE	31158466		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar Diseases	BEFREE	21666345, 24937631		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	33739604	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	29603387, 33739604	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	20188713	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dentatorubral-Pallidoluysian Atrophy	Dentatorubral Pallidoluysian Atrophy	BEFREE	21619691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33739604	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	29603387, 33739604	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic Ataxia	BEFREE	19488825		★★★★★ ★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic ataxia	Pubtator	34292398	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal Dystonia	Focal dystonia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29393370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	29393370	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29393370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	32539851	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	36056316	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Autosomal Dominant Spastic Paraplegia	Spastic paraplegia	BEFREE	11839840		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28338001		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	21937992		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	37773536	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	26921055		★★★★★ ★☆☆☆☆ Found in Text Mining only
Marie Cerebellar Ataxia	Marie Cerebellar Ataxia	BEFREE	21827914		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	21937992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	2591962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	32986378	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	30249303, 37551632	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	LHGDN	16828200		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	18577575, 20938103, 24021284, 30312605		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	BEFREE	17149711		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus, End-Position	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Neuropathy Ischemic	Optic neuropathy	Pubtator	9583183	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	25252845, 25663494		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	25252845, 25663494	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	36672978	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	20581473	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraparesis Spastic	Paraparesis	Pubtator	34292398	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	29167402		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	24765663		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	29603387	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	21937992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis	Retinitis	LHGDN	16828200		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	LHGDN	16828200		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	19165527		★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary Trigeminal Neuralgia	Trigeminal neuralgia	CTD_human_DG	27093858		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 11	Spinocerebellar ataxia	Pubtator	32338350, 33739604, 37301203	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar ataxia 14	Spinocerebellar Ataxia	CLINVAR_DG	12164726, 12644968, 17659643		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar ataxia 14	Spinocerebellar Ataxia	GENOMICS_ENGLAND_DG	12644968, 15313841, 29603387		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar ataxia 14	Spinocerebellar Ataxia	UNIPROT_DG	12644968, 29053796		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar ataxia 14	Spinocerebellar Ataxia	BEFREE	14676051, 15313841, 15618281, 15841389, 16189624, 16291902, 16763984, 17343273, 18577575, 20938103, 24021284, 24030789, 24134140, 25217572, 28554312 View all (5 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar ataxia 14	Spinocerebellar ataxia	Pubtator	16291902, 29603387, 30249303, 32338350, 33739604, 34292398, 37101238, 38072404	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar ataxia 14	Spinocerebellar Ataxia	ORPHANET_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar ataxia 14	Spinocerebellar Ataxia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	CTD_human_DG	20398063		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar ataxia type 14	Spinocerebellar Ataxia	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spinocerebellar Ataxia Type 2	Spinocerebellar Ataxia	CTD_human_DG	20398063		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 4	Spinocerebellar Ataxia	CTD_human_DG	20398063		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 5	Spinocerebellar Ataxia	CTD_human_DG	20398063		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 6 (disorder)	Spinocerebellar Ataxia	CTD_human_DG	20398063		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 7	Spinocerebellar Ataxia	CTD_human_DG	20398063		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	12644968, 37551632	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	12046066	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	CTD_human_DG	27093858		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trigeminal Neuralgia, Idiopathic	Trigeminal neuralgia	CTD_human_DG	27093858		★★★★★ ★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	26921055		★★★★★ ★☆☆☆☆ Found in Text Mining only

PRKCG (protein kinase C gamma)