CAMK2G (calcium/calmodulin dependent protein kinase II gamma)

Gene

• Entrez ID: 818
• Gene name: Calcium/calmodulin dependent protein kinase II gamma
• Gene symbol: CAMK2G
• Synonyms (NCBI Gene): CAMK, CAMK-II, CAMKG, MRD59
• Chromosome: 10
• Chromosome location: 10q22.2
• Summary: The product of this gene is one of the four subunits of an enzyme which belongs to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs397514627	C>A,G	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004446	hsa-miR-219a-5p	Luciferase reporter assay	19196972
MIRT024052	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT031976	hsa-miR-16-5p	Proteomics	18668040
MIRT043311	hsa-miR-331-3p	CLASH	23622248
MIRT053737	hsa-miR-1268a	Microarray	22942087
MIRT720329	hsa-miR-483-3p	HITS-CLIP	19536157
MIRT720329	hsa-miR-483-3p	HITS-CLIP	19536157
MIRT720328	hsa-miR-6890-3p	HITS-CLIP	19536157
MIRT720327	hsa-miR-1273g-3p	HITS-CLIP	19536157
MIRT720326	hsa-miR-4301	HITS-CLIP	19536157
MIRT720325	hsa-miR-532-3p	HITS-CLIP	19536157
MIRT720324	hsa-miR-2116-3p	HITS-CLIP	19536157
MIRT720323	hsa-miR-3156-3p	HITS-CLIP	19536157
MIRT720322	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT659906	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT659905	hsa-miR-4704-5p	HITS-CLIP	23824327
MIRT659904	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT659903	hsa-miR-623	HITS-CLIP	23824327
MIRT659902	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT659901	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT659900	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT659899	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT659898	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT659897	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT720329	hsa-miR-483-3p	HITS-CLIP	19536157
MIRT720329	hsa-miR-483-3p	HITS-CLIP	19536157
MIRT720328	hsa-miR-6890-3p	HITS-CLIP	19536157
MIRT720327	hsa-miR-1273g-3p	HITS-CLIP	19536157
MIRT720326	hsa-miR-4301	HITS-CLIP	19536157
MIRT720325	hsa-miR-532-3p	HITS-CLIP	19536157
MIRT720324	hsa-miR-2116-3p	HITS-CLIP	19536157
MIRT720323	hsa-miR-3156-3p	HITS-CLIP	19536157
MIRT720322	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT659906	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT659905	hsa-miR-4704-5p	HITS-CLIP	23824327
MIRT659904	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT659903	hsa-miR-623	HITS-CLIP	23824327
MIRT659902	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT659901	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT659900	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT659899	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT659898	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT659897	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT860256	hsa-miR-1202	CLIP-seq
MIRT860257	hsa-miR-1248	CLIP-seq
MIRT860258	hsa-miR-1976	CLIP-seq
MIRT860259	hsa-miR-2278	CLIP-seq
MIRT860260	hsa-miR-2392	CLIP-seq
MIRT860261	hsa-miR-3972	CLIP-seq
MIRT860262	hsa-miR-4274	CLIP-seq
MIRT860263	hsa-miR-4297	CLIP-seq
MIRT860264	hsa-miR-4446-3p	CLIP-seq
MIRT860265	hsa-miR-4535	CLIP-seq
MIRT860266	hsa-miR-4675	CLIP-seq
MIRT860267	hsa-miR-4722-3p	CLIP-seq
MIRT860268	hsa-miR-4741	CLIP-seq
MIRT860269	hsa-miR-4755-3p	CLIP-seq
MIRT860270	hsa-miR-4778-3p	CLIP-seq
MIRT860271	hsa-miR-485-3p	CLIP-seq
MIRT860272	hsa-miR-492	CLIP-seq
MIRT860273	hsa-miR-633	CLIP-seq
MIRT860274	hsa-miR-876-3p	CLIP-seq
MIRT860275	hsa-miR-1245b-3p	CLIP-seq
MIRT860276	hsa-miR-28-5p	CLIP-seq
MIRT860277	hsa-miR-3139	CLIP-seq
MIRT860278	hsa-miR-3664-3p	CLIP-seq
MIRT860279	hsa-miR-3943	CLIP-seq
MIRT860280	hsa-miR-4323	CLIP-seq
MIRT860281	hsa-miR-4433	CLIP-seq
MIRT860282	hsa-miR-4459	CLIP-seq
MIRT860283	hsa-miR-4686	CLIP-seq
MIRT860284	hsa-miR-4705	CLIP-seq
MIRT860285	hsa-miR-4728-3p	CLIP-seq
MIRT860286	hsa-miR-4768-3p	CLIP-seq
MIRT860287	hsa-miR-4796-5p	CLIP-seq
MIRT860288	hsa-miR-499-3p	CLIP-seq
MIRT860289	hsa-miR-499a-3p	CLIP-seq
MIRT860290	hsa-miR-558	CLIP-seq
MIRT860291	hsa-miR-628-5p	CLIP-seq
MIRT860292	hsa-miR-708	CLIP-seq
MIRT1955291	hsa-miR-1184	CLIP-seq
MIRT1955292	hsa-miR-1205	CLIP-seq
MIRT1955293	hsa-miR-1236	CLIP-seq
MIRT1955294	hsa-miR-150	CLIP-seq
MIRT1955295	hsa-miR-3065-3p	CLIP-seq
MIRT1955296	hsa-miR-3158-5p	CLIP-seq
MIRT860263	hsa-miR-4297	CLIP-seq
MIRT1955297	hsa-miR-4492	CLIP-seq
MIRT1955298	hsa-miR-4498	CLIP-seq
MIRT1955299	hsa-miR-4713-5p	CLIP-seq
MIRT1955300	hsa-miR-762	CLIP-seq
MIRT1955301	hsa-miR-1909	CLIP-seq
MIRT1955291	hsa-miR-1184	CLIP-seq
MIRT1955292	hsa-miR-1205	CLIP-seq
MIRT1955293	hsa-miR-1236	CLIP-seq
MIRT1955296	hsa-miR-3158-5p	CLIP-seq
MIRT860263	hsa-miR-4297	CLIP-seq
MIRT2193030	hsa-miR-495	CLIP-seq
MIRT1955292	hsa-miR-1205	CLIP-seq
MIRT2385501	hsa-miR-15a	CLIP-seq
MIRT2385502	hsa-miR-15b	CLIP-seq
MIRT2385503	hsa-miR-16	CLIP-seq
MIRT1955301	hsa-miR-1909	CLIP-seq
MIRT2385504	hsa-miR-195	CLIP-seq
MIRT2385505	hsa-miR-330-3p	CLIP-seq
MIRT2385506	hsa-miR-424	CLIP-seq
MIRT2385507	hsa-miR-4667-3p	CLIP-seq
MIRT2385508	hsa-miR-497	CLIP-seq
MIRT1955292	hsa-miR-1205	CLIP-seq
MIRT2446139	hsa-miR-1298	CLIP-seq
MIRT2446140	hsa-miR-3661	CLIP-seq
MIRT2446141	hsa-miR-3684	CLIP-seq
MIRT2446142	hsa-miR-384	CLIP-seq
MIRT2446143	hsa-miR-555	CLIP-seq
MIRT2446144	hsa-miR-631	CLIP-seq
MIRT2496108	hsa-miR-101	CLIP-seq
MIRT2496109	hsa-miR-103a	CLIP-seq
MIRT2496110	hsa-miR-107	CLIP-seq
MIRT1955291	hsa-miR-1184	CLIP-seq
MIRT1955292	hsa-miR-1205	CLIP-seq
MIRT1955293	hsa-miR-1236	CLIP-seq
MIRT2496111	hsa-miR-1296	CLIP-seq
MIRT2496112	hsa-miR-1302	CLIP-seq
MIRT2496113	hsa-miR-1908	CLIP-seq
MIRT1955301	hsa-miR-1909	CLIP-seq
MIRT2496114	hsa-miR-1915	CLIP-seq
MIRT2496115	hsa-miR-204	CLIP-seq
MIRT2496116	hsa-miR-211	CLIP-seq
MIRT2496117	hsa-miR-214	CLIP-seq
MIRT2496118	hsa-miR-22	CLIP-seq
MIRT2496119	hsa-miR-29a	CLIP-seq
MIRT2496120	hsa-miR-29b	CLIP-seq
MIRT2496121	hsa-miR-29c	CLIP-seq
MIRT1955295	hsa-miR-3065-3p	CLIP-seq
MIRT2496122	hsa-miR-3120-3p	CLIP-seq
MIRT2496123	hsa-miR-3135b	CLIP-seq
MIRT2496124	hsa-miR-3151	CLIP-seq
MIRT1955296	hsa-miR-3158-5p	CLIP-seq
MIRT2496125	hsa-miR-3166	CLIP-seq
MIRT2496126	hsa-miR-3192	CLIP-seq
MIRT2496127	hsa-miR-3619-5p	CLIP-seq
MIRT2496128	hsa-miR-3652	CLIP-seq
MIRT2496129	hsa-miR-3653	CLIP-seq
MIRT2496130	hsa-miR-3907	CLIP-seq
MIRT2496131	hsa-miR-423-3p	CLIP-seq
MIRT2496132	hsa-miR-4283	CLIP-seq
MIRT2496133	hsa-miR-4298	CLIP-seq
MIRT2496134	hsa-miR-4300	CLIP-seq
MIRT2496135	hsa-miR-4418	CLIP-seq
MIRT2496136	hsa-miR-4430	CLIP-seq
MIRT2496137	hsa-miR-4436b-3p	CLIP-seq
MIRT2496138	hsa-miR-4489	CLIP-seq
MIRT1955297	hsa-miR-4492	CLIP-seq
MIRT2496139	hsa-miR-4494	CLIP-seq
MIRT1955298	hsa-miR-4498	CLIP-seq
MIRT2496140	hsa-miR-4505	CLIP-seq
MIRT2496141	hsa-miR-4512	CLIP-seq
MIRT2496142	hsa-miR-4639-5p	CLIP-seq
MIRT2496143	hsa-miR-4645-3p	CLIP-seq
MIRT2496144	hsa-miR-4690-5p	CLIP-seq
MIRT2496145	hsa-miR-4771	CLIP-seq
MIRT2496146	hsa-miR-4795-5p	CLIP-seq
MIRT2496147	hsa-miR-509-3-5p	CLIP-seq
MIRT2496148	hsa-miR-509-5p	CLIP-seq
MIRT2496149	hsa-miR-544	CLIP-seq
MIRT2496150	hsa-miR-663	CLIP-seq
MIRT2496151	hsa-miR-761	CLIP-seq
MIRT1955300	hsa-miR-762	CLIP-seq
MIRT2496152	hsa-miR-765	CLIP-seq
MIRT2496153	hsa-miR-920	CLIP-seq
MIRT1955296	hsa-miR-3158-5p	CLIP-seq
MIRT1955297	hsa-miR-4492	CLIP-seq
MIRT1955298	hsa-miR-4498	CLIP-seq
MIRT1955300	hsa-miR-762	CLIP-seq
MIRT2496109	hsa-miR-103a	CLIP-seq
MIRT2496110	hsa-miR-107	CLIP-seq
MIRT1955291	hsa-miR-1184	CLIP-seq
MIRT1955292	hsa-miR-1205	CLIP-seq
MIRT2677322	hsa-miR-1226	CLIP-seq
MIRT1955293	hsa-miR-1236	CLIP-seq
MIRT2496111	hsa-miR-1296	CLIP-seq
MIRT2496112	hsa-miR-1302	CLIP-seq
MIRT2496113	hsa-miR-1908	CLIP-seq
MIRT1955301	hsa-miR-1909	CLIP-seq
MIRT2496114	hsa-miR-1915	CLIP-seq
MIRT2496117	hsa-miR-214	CLIP-seq
MIRT2496118	hsa-miR-22	CLIP-seq
MIRT2496119	hsa-miR-29a	CLIP-seq
MIRT2496120	hsa-miR-29b	CLIP-seq
MIRT2496121	hsa-miR-29c	CLIP-seq
MIRT1955295	hsa-miR-3065-3p	CLIP-seq
MIRT1955296	hsa-miR-3158-5p	CLIP-seq
MIRT2496125	hsa-miR-3166	CLIP-seq
MIRT2496126	hsa-miR-3192	CLIP-seq
MIRT2496127	hsa-miR-3619-5p	CLIP-seq
MIRT2496130	hsa-miR-3907	CLIP-seq
MIRT2496131	hsa-miR-423-3p	CLIP-seq
MIRT2496133	hsa-miR-4298	CLIP-seq
MIRT2496134	hsa-miR-4300	CLIP-seq
MIRT2496135	hsa-miR-4418	CLIP-seq
MIRT2496137	hsa-miR-4436b-3p	CLIP-seq
MIRT1955297	hsa-miR-4492	CLIP-seq
MIRT2496139	hsa-miR-4494	CLIP-seq
MIRT1955298	hsa-miR-4498	CLIP-seq
MIRT2496140	hsa-miR-4505	CLIP-seq
MIRT2496141	hsa-miR-4512	CLIP-seq
MIRT2677323	hsa-miR-4677-3p	CLIP-seq
MIRT2496144	hsa-miR-4690-5p	CLIP-seq
MIRT2496145	hsa-miR-4771	CLIP-seq
MIRT2677324	hsa-miR-4794	CLIP-seq
MIRT2496147	hsa-miR-509-3-5p	CLIP-seq
MIRT2496148	hsa-miR-509-5p	CLIP-seq
MIRT2496149	hsa-miR-544	CLIP-seq
MIRT2677325	hsa-miR-605	CLIP-seq
MIRT2677326	hsa-miR-627	CLIP-seq
MIRT2677327	hsa-miR-634	CLIP-seq
MIRT2496150	hsa-miR-663	CLIP-seq
MIRT2496151	hsa-miR-761	CLIP-seq
MIRT1955300	hsa-miR-762	CLIP-seq
MIRT2496152	hsa-miR-765	CLIP-seq
MIRT2496153	hsa-miR-920	CLIP-seq
MIRT2677328	hsa-miR-924	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004683	Function	Calcium/calmodulin-dependent protein kinase activity	IBA
GO:0004683	Function	Calcium/calmodulin-dependent protein kinase activity	IEA
GO:0004723	Function	Calcium-dependent protein serine/threonine phosphatase activity	NAS	9060999
GO:0005515	Function	Protein binding	IPI	20668654, 22939624, 32296183, 32707033, 33961781, 35271311
GO:0005516	Function	Calmodulin binding	IBA
GO:0005516	Function	Calmodulin binding	IEA
GO:0005516	Function	Calmodulin binding	NAS	9060999
GO:0005524	Function	ATP binding	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005829	Component	Cytosol	TAS
GO:0005954	Component	Calcium- and calmodulin-dependent protein kinase complex	IDA	20668654
GO:0005954	Component	Calcium- and calmodulin-dependent protein kinase complex	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0010975	Process	Regulation of neuron projection development	IBA
GO:0010975	Process	Regulation of neuron projection development	IMP	30184290
GO:0014069	Component	Postsynaptic density	IBA
GO:0014733	Process	Regulation of skeletal muscle adaptation	TAS	15294044
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030073	Process	Insulin secretion	NAS	9240463
GO:0030154	Process	Cell differentiation	IEA
GO:0030666	Component	Endocytic vesicle membrane	IEA
GO:0030666	Component	Endocytic vesicle membrane	TAS
GO:0033017	Component	Sarcoplasmic reticulum membrane	IEA
GO:0042802	Function	Identical protein binding	IPI	20668654
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	IPI	20668654
GO:0043005	Component	Neuron projection	IBA
GO:0048168	Process	Regulation of neuronal synaptic plasticity	IBA
GO:0051924	Process	Regulation of calcium ion transport	TAS	15294044
GO:0060291	Process	Long-term synaptic potentiation	IEA
GO:0060291	Process	Long-term synaptic potentiation	TAS	20668654
GO:0106310	Function	Protein serine kinase activity	IEA
GO:1903076	Process	Regulation of protein localization to plasma membrane	IBA

Other IDs

• MIM: 602123
• HGNC: 1463
• e!Ensembl: ENSG00000148660

Protein

• UniProt ID: Q13555
• Protein name: Calcium/calmodulin-dependent protein kinase type II subunit gamma (CaM kinase II subunit gamma) (CaMK-II subunit gamma) (EC 2.7.11.17)
• Protein function: Calcium/calmodulin-dependent protein kinase that functions autonomously after Ca(2+)/calmodulin-binding and autophosphorylation, and is involved in sarcoplasmic reticulum Ca(2+) transport in skeletal muscle and may function in dendritic spine an
• PDB: 2UX0, 2V7O
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	14 → 272	Protein kinase domain	Domain
  PF08332	CaMKII_AD	426 → 553	Calcium/calmodulin dependent protein kinase II association domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in skeletal muscle. {ECO:0000269|PubMed:16690701}.
• Sequence:

  MATTATCTRFTDDYQLFEELGKGAFSVVRRCVKKTSTQEYAAKIINTKKLSARDHQKLER
  EARICRLLKHPNIVRLHDSISEEGFHYLVFDLVTGGELFEDIVAREYYSEADASHCIHQI
  LESVNHIHQHDIVHRDLKPENLLLASKCKGAAVKLADFGLAIEVQGEQQAWFGFAGTPGY
  LSPEVLRKDPYGKPVDIWACGVILYILLVGYPPFWDEDQHKLYQQIKAGAYDFPSPEWDT
  VTPEAKNLINQMLTINPAKRITADQALKHPWVCQRSTVASMMHRQETVECLRKFNARRKL
  KGAILTTMLVSRNFSAAKSLLNKKSDGGVKKRKSSSSVHLMPQSNNKNSLVSPAQEPAPL
  QTAMEPQTTVVHNATDGIKGSTESCNTTTEDEDLKGRVPEGRSSRDRTAPSAGMQPQPSL
  CSSAMRKQEIIKITEQLIEAINNGDFEAYTKICDPGLTSFEPEALGNLVEGMDFHKFYFE
  NLLSKNSKPIHTTILNPHVHVIGEDAACIAYIRLTQYIDGQGRPRTSQSEETRVWHRRDG
  KWLNVHYHCSGAPAAPLQ

• Sequence length: 558

Pathways

KEGG:

ErbB signaling pathway
Calcium signaling pathway
cAMP signaling pathway
HIF-1 signaling pathway
Oocyte meiosis
Efferocytosis
Necroptosis
Adrenergic signaling in cardiomyocytes
Wnt signaling pathway
Axon guidance
Circadian entrainment
Long-term potentiation
Neurotrophin signaling pathway
Cholinergic synapse
Dopaminergic synapse
Olfactory transduction
Inflammatory mediator regulation of TRP channels
Insulin secretion
GnRH signaling pathway
Melanogenesis
Oxytocin signaling pathway
Glucagon signaling pathway
Aldosterone synthesis and secretion
Cushing syndrome
Gastric acid secretion
Parkinson disease
Pathways of neurodegeneration - multiple diseases
Amphetamine addiction
Tuberculosis
Pathways in cancer
Proteoglycans in cancer
Glioma
Diabetic cardiomyopathy
Lipid and atherosclerosis

Reactome:

HSF1-dependent transactivation
Trafficking of AMPA receptors
Unblocking of NMDA receptors, glutamate binding and activation
Phase 0 - rapid depolarisation
Ion homeostasis
RAF activation
RAF/MAP kinase cascade
Signaling by moderate kinase activity BRAF mutants
Signaling by BRAF and RAF fusions
Paradoxical activation of RAF signaling by kinase inactive BRAF
Interferon gamma signaling
Ion transport by P-type ATPases
Signaling downstream of RAS mutants

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Autism	Likely pathogenic; Pathogenic	rs397514627	RCV000678045
Generalized hypotonia	Likely pathogenic; Pathogenic	rs397514627	RCV000678045
Global developmental delay	Likely pathogenic; Pathogenic	rs397514627	RCV000678045
Intellectual developmental disorder 59	Likely pathogenic; Pathogenic	rs2134277165, rs2548530010, rs2547960192, rs397514627	RCV002250979 RCV002291094 RCV003991680 RCV001588840
Severe intellectual disability	Likely pathogenic; Pathogenic	rs397514627	RCV000033109

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
CAMK2G-related disorder	Uncertain significance; Likely benign; Benign	rs375277421, rs765989347, rs201295644, rs2547960908, rs200585413, rs147311100, rs774447392, rs56230636, rs200186779	RCV003963766 RCV003901034 RCV003981546 RCV003896445 RCV003904250 RCV003936925 RCV003951453 RCV003971744 RCV003969094
CAMK2G-related syndromic intellectual disability	Uncertain significance	rs757705577	RCV001095736
Neurodevelopmental disorder	Uncertain significance	rs2548515709	RCV003389164

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	28640357
Alzheimer Disease	Associate	24731980
Anemia Aplastic	Associate	25800665
Arrhythmias Cardiac	Associate	25815641, 25910598, 29410121, 36671453
Arthritis Psoriatic	Associate	20353560
Astrocytoma	Associate	12937144
Ataxia Telangiectasia	Associate	10403399
Atherosclerosis	Associate	28011257
Atrial Fibrillation	Associate	37523735
Atrial Remodeling	Associate	34196135, 37523735
Brain Diseases	Associate	37510258
Breast Neoplasms	Associate	27605043
Carcinoma Hepatocellular	Associate	28869833, 35724265
Carcinoma Non Small Cell Lung	Associate	35692887
Cardiomyopathies	Associate	37300940
Cardiomyopathy Dilated	Associate	37372357
Cardiomyopathy Hypertrophic	Associate	25910598, 27688314
Cardiotoxicity	Associate	35260914, 36111515
Cognition Disorders	Associate	34196135
Colonic Neoplasms	Associate	11274166, 28970726
Colorectal Neoplasms	Associate	19298255, 28692053, 28970726, 33761465
Craniocerebral Trauma	Inhibit	32483284
Cyclic neutropenia	Associate	25800665
Dementia Vascular	Associate	28011257
Developmental Disabilities	Associate	37372357
Diabetes Mellitus Type 2	Associate	35767566
Drug Resistant Epilepsy	Associate	28388656
Failed Back Surgery Syndrome	Associate	20443916
Fractures Spontaneous	Associate	36111515
GATA2 Deficiency	Associate	32641029
Glioblastoma	Associate	12937144, 21649900, 30816530
Glioma	Associate	12496285, 20139089, 22049206, 23261316, 30816530, 31593589
Glycogen Storage Disease Type IIb	Associate	36671453
Heart Diseases	Associate	25910598
Heart Failure	Associate	25201344, 25815641, 25910598, 29410121, 35805993
Hypertension	Stimulate	20392834
Hypertrophy	Associate	25910598
Hypertrophy	Stimulate	30205161
Hypoplastic Left Heart Syndrome	Associate	24793904
Intellectual Disability	Associate	37510258
Iron Overload	Associate	33039869
Ischemia	Associate	25910598
Leukemia	Associate	25446257
Leukemia Myeloid	Associate	11376870, 17431504, 18483256, 25446257
Leukemia Myeloid Acute	Associate	18483256
Long QT Syndrome	Associate	36496072
Lymphoma	Associate	35482553
Lymphoma Large B Cell Diffuse	Associate	34088288
Malformations of Cortical Development Group I	Associate	32787872
Mammary Neoplasms Animal	Associate	9060999
Mental Retardation X Linked 53	Associate	37510258
Microcephaly	Associate	36137748
Mitochondrial Diseases	Associate	29901626
Myotonic Dystrophy	Associate	34371182
Neoplasm Metastasis	Associate	28970726
Neoplasms	Associate	18305109, 19749792, 20454608, 26719529, 28869833, 28970726, 30816530, 9060999
Neoplasms	Stimulate	35482553
Neuroblastoma	Associate	9060999
Osteoarthritis	Stimulate	30205161
Osteogenesis imperfecta type 1A	Associate	37410216
Plaque Atherosclerotic	Associate	28011257
Polymorphic catecholergic ventricular tachycardia	Associate	34888671
Prostatic Neoplasms	Associate	17387273, 20454608
Reperfusion Injury	Associate	35805993