CAMK2A (calcium/calmodulin dependent protein kinase II alpha)

Gene

• Entrez ID: 815
• Gene name: Calcium/calmodulin dependent protein kinase II alpha
• Gene symbol: CAMK2A
• Synonyms: CAMKA, CaMKIINalpha, CaMKIIalpha, MRD53, MRT63
• Chromosome: 5
• Chromosome location: 5q32
• Summary: The product of this gene belongs to the serine/threonine protein kinases family, and to the Ca(2+)/calmodulin-dependent protein kinases subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. This calcium calmo

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs113331868	C>A,T	Pathogenic	Splice donor variant
rs864309606	G>A	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs926027867	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs1287121256	C>G,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs1554119274	G>A	Pathogenic	Coding sequence variant, missense variant
rs1554121872	T>G	Pathogenic	Coding sequence variant, missense variant
rs1554121875	T>C	Pathogenic	Coding sequence variant, missense variant
rs1554121878	C>T	Pathogenic	Splice acceptor variant
rs1554122123	->A	Likely-pathogenic	Splice donor variant
rs1554122129	T>A	Pathogenic	Coding sequence variant, missense variant
rs1554122526	A>G	Pathogenic	Coding sequence variant, missense variant
rs1554123982	C>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant
rs1562164380	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1580966945	C>T	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT529406	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT529405	hsa-miR-520f-3p	PAR-CLIP	22012620
MIRT529404	hsa-miR-1251-3p	PAR-CLIP	22012620
MIRT457398	hsa-miR-4688	PAR-CLIP	23592263
MIRT457397	hsa-miR-6743-5p	PAR-CLIP	23592263
MIRT457396	hsa-miR-4534	PAR-CLIP	23592263
MIRT457395	hsa-miR-8082	PAR-CLIP	23592263
MIRT457394	hsa-miR-3665	PAR-CLIP	23592263
MIRT457393	hsa-miR-505-5p	PAR-CLIP	23592263
MIRT457392	hsa-miR-4736	PAR-CLIP	23592263
MIRT457391	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT457390	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT457389	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT457388	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT457387	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT457386	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT457385	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT457384	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT457383	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT457382	hsa-miR-5698	PAR-CLIP	23592263
MIRT457381	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT457379	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT457380	hsa-miR-4525	PAR-CLIP	23592263
MIRT457378	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT457377	hsa-miR-92a-2-5p	PAR-CLIP	23592263
MIRT457376	hsa-miR-4447	PAR-CLIP	23592263
MIRT457375	hsa-miR-4472	PAR-CLIP	23592263
MIRT457374	hsa-miR-1275	PAR-CLIP	23592263
MIRT457373	hsa-miR-4665-5p	PAR-CLIP	23592263
MIRT736819	hsa-miR-146a-3p	qRT-PCR	31555879
MIRT529406	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT529405	hsa-miR-520f-3p	PAR-CLIP	22012620
MIRT529404	hsa-miR-1251-3p	PAR-CLIP	22012620
MIRT457398	hsa-miR-4688	PAR-CLIP	23592263
MIRT457397	hsa-miR-6743-5p	PAR-CLIP	23592263
MIRT457396	hsa-miR-4534	PAR-CLIP	23592263
MIRT457395	hsa-miR-8082	PAR-CLIP	23592263
MIRT457394	hsa-miR-3665	PAR-CLIP	23592263
MIRT457393	hsa-miR-505-5p	PAR-CLIP	23592263
MIRT457392	hsa-miR-4736	PAR-CLIP	23592263
MIRT457391	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT457390	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT457389	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT457388	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT457387	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT457386	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT457385	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT457384	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT457383	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT457382	hsa-miR-5698	PAR-CLIP	23592263
MIRT457381	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT457379	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT457380	hsa-miR-4525	PAR-CLIP	23592263
MIRT457378	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT457377	hsa-miR-92a-2-5p	PAR-CLIP	23592263
MIRT457376	hsa-miR-4447	PAR-CLIP	23592263
MIRT457375	hsa-miR-4472	PAR-CLIP	23592263
MIRT457374	hsa-miR-1275	PAR-CLIP	23592263
MIRT457373	hsa-miR-4665-5p	PAR-CLIP	23592263
MIRT755478	hsa-miR-3200-3p	Luciferase reporter assay, Western blotting, qRT-PCR, in vitro cullelar assays	35287547
MIRT860097	hsa-miR-1207-5p	CLIP-seq
MIRT860098	hsa-miR-127-5p	CLIP-seq
MIRT860099	hsa-miR-1287	CLIP-seq
MIRT860100	hsa-miR-1909	CLIP-seq
MIRT860101	hsa-miR-3128	CLIP-seq
MIRT860102	hsa-miR-3135b	CLIP-seq
MIRT860103	hsa-miR-3175	CLIP-seq
MIRT860104	hsa-miR-3676	CLIP-seq
MIRT860105	hsa-miR-3689d	CLIP-seq
MIRT860106	hsa-miR-409-3p	CLIP-seq
MIRT860107	hsa-miR-4443	CLIP-seq
MIRT860108	hsa-miR-4470	CLIP-seq
MIRT860109	hsa-miR-4487	CLIP-seq
MIRT860110	hsa-miR-4646-5p	CLIP-seq
MIRT860111	hsa-miR-4763-3p	CLIP-seq
MIRT860112	hsa-miR-4781-3p	CLIP-seq
MIRT860113	hsa-miR-4786-3p	CLIP-seq
MIRT860114	hsa-miR-569	CLIP-seq
MIRT860115	hsa-miR-657	CLIP-seq
MIRT860116	hsa-miR-1245b-5p	CLIP-seq
MIRT860098	hsa-miR-127-5p	CLIP-seq
MIRT860117	hsa-miR-3123	CLIP-seq
MIRT860118	hsa-miR-3125	CLIP-seq
MIRT860119	hsa-miR-3142	CLIP-seq
MIRT860120	hsa-miR-3150b-3p	CLIP-seq
MIRT860121	hsa-miR-3153	CLIP-seq
MIRT860122	hsa-miR-3179	CLIP-seq
MIRT860123	hsa-miR-3189-3p	CLIP-seq
MIRT860124	hsa-miR-3916	CLIP-seq
MIRT860125	hsa-miR-4311	CLIP-seq
MIRT860126	hsa-miR-4459	CLIP-seq
MIRT860109	hsa-miR-4487	CLIP-seq
MIRT860127	hsa-miR-4532	CLIP-seq
MIRT860110	hsa-miR-4646-5p	CLIP-seq
MIRT860128	hsa-miR-4695-5p	CLIP-seq
MIRT860129	hsa-miR-4707-5p	CLIP-seq
MIRT860130	hsa-miR-4784	CLIP-seq
MIRT860113	hsa-miR-4786-3p	CLIP-seq
MIRT860131	hsa-miR-541	CLIP-seq
MIRT860132	hsa-miR-583	CLIP-seq
MIRT860133	hsa-miR-654-5p	CLIP-seq
MIRT860134	hsa-miR-7	CLIP-seq
MIRT860135	hsa-miR-767-5p	CLIP-seq
MIRT1955234	hsa-miR-103a	CLIP-seq
MIRT1955235	hsa-miR-107	CLIP-seq
MIRT1955236	hsa-miR-1270	CLIP-seq
MIRT860099	hsa-miR-1287	CLIP-seq
MIRT1955237	hsa-miR-138	CLIP-seq
MIRT1955238	hsa-miR-1827	CLIP-seq
MIRT1955239	hsa-miR-2110	CLIP-seq
MIRT860101	hsa-miR-3128	CLIP-seq
MIRT860102	hsa-miR-3135b	CLIP-seq
MIRT1955240	hsa-miR-3150a-3p	CLIP-seq
MIRT860103	hsa-miR-3175	CLIP-seq
MIRT1955241	hsa-miR-326	CLIP-seq
MIRT1955242	hsa-miR-330-5p	CLIP-seq
MIRT1955243	hsa-miR-331-3p	CLIP-seq
MIRT1955244	hsa-miR-3614-5p	CLIP-seq
MIRT1955245	hsa-miR-3670	CLIP-seq
MIRT860104	hsa-miR-3676	CLIP-seq
MIRT1955246	hsa-miR-4299	CLIP-seq
MIRT1955247	hsa-miR-432	CLIP-seq
MIRT1955248	hsa-miR-4480	CLIP-seq
MIRT1955249	hsa-miR-4531	CLIP-seq
MIRT1955250	hsa-miR-4720-5p	CLIP-seq
MIRT1955251	hsa-miR-4727-5p	CLIP-seq
MIRT1955252	hsa-miR-4769-3p	CLIP-seq
MIRT1955253	hsa-miR-4799-3p	CLIP-seq
MIRT1955254	hsa-miR-509-3p	CLIP-seq
MIRT1955255	hsa-miR-593	CLIP-seq
MIRT1955256	hsa-miR-620	CLIP-seq
MIRT1955257	hsa-miR-890	CLIP-seq
MIRT1955258	hsa-miR-939	CLIP-seq
MIRT1955259	hsa-miR-942	CLIP-seq
MIRT860099	hsa-miR-1287	CLIP-seq
MIRT2192951	hsa-miR-137	CLIP-seq
MIRT1955237	hsa-miR-138	CLIP-seq
MIRT2192952	hsa-miR-148a	CLIP-seq
MIRT2192953	hsa-miR-148b	CLIP-seq
MIRT2192954	hsa-miR-152	CLIP-seq
MIRT1955239	hsa-miR-2110	CLIP-seq
MIRT2192955	hsa-miR-25	CLIP-seq
MIRT860102	hsa-miR-3135b	CLIP-seq
MIRT1955240	hsa-miR-3150a-3p	CLIP-seq
MIRT860103	hsa-miR-3175	CLIP-seq
MIRT2192956	hsa-miR-32	CLIP-seq
MIRT2192957	hsa-miR-342-5p	CLIP-seq
MIRT2192958	hsa-miR-363	CLIP-seq
MIRT2192959	hsa-miR-367	CLIP-seq
MIRT1955245	hsa-miR-3670	CLIP-seq
MIRT860104	hsa-miR-3676	CLIP-seq
MIRT1955246	hsa-miR-4299	CLIP-seq
MIRT2192960	hsa-miR-4325	CLIP-seq
MIRT2192961	hsa-miR-4651	CLIP-seq
MIRT2192962	hsa-miR-4664-5p	CLIP-seq
MIRT2192963	hsa-miR-4691-5p	CLIP-seq
MIRT2192964	hsa-miR-4697-3p	CLIP-seq
MIRT860129	hsa-miR-4707-5p	CLIP-seq
MIRT2192965	hsa-miR-4713-5p	CLIP-seq
MIRT2192966	hsa-miR-4787-5p	CLIP-seq
MIRT2192967	hsa-miR-491-5p	CLIP-seq
MIRT1955254	hsa-miR-509-3p	CLIP-seq
MIRT2192968	hsa-miR-512-3p	CLIP-seq
MIRT860131	hsa-miR-541	CLIP-seq
MIRT2192969	hsa-miR-570	CLIP-seq
MIRT2192970	hsa-miR-608	CLIP-seq
MIRT860133	hsa-miR-654-5p	CLIP-seq
MIRT860135	hsa-miR-767-5p	CLIP-seq
MIRT2192971	hsa-miR-92a	CLIP-seq
MIRT2192972	hsa-miR-92b	CLIP-seq
MIRT1955258	hsa-miR-939	CLIP-seq
MIRT2385493	hsa-miR-1290	CLIP-seq
MIRT2385494	hsa-miR-3167	CLIP-seq
MIRT2385495	hsa-miR-4540	CLIP-seq
MIRT2385496	hsa-miR-629	CLIP-seq
MIRT2385497	hsa-miR-876-5p	CLIP-seq
MIRT2385498	hsa-miR-1324	CLIP-seq
MIRT2385499	hsa-miR-3166	CLIP-seq
MIRT2436039	hsa-miR-338-3p	CLIP-seq
MIRT2436040	hsa-miR-4530	CLIP-seq
MIRT2436041	hsa-miR-4668-3p	CLIP-seq
MIRT2436042	hsa-miR-545	CLIP-seq
MIRT2436043	hsa-miR-548p	CLIP-seq
MIRT2436039	hsa-miR-338-3p	CLIP-seq
MIRT2436040	hsa-miR-4530	CLIP-seq
MIRT2436041	hsa-miR-4668-3p	CLIP-seq
MIRT2436042	hsa-miR-545	CLIP-seq
MIRT2436043	hsa-miR-548p	CLIP-seq
MIRT2496004	hsa-miR-4293	CLIP-seq
MIRT2496005	hsa-miR-625	CLIP-seq
MIRT2496004	hsa-miR-4293	CLIP-seq
MIRT2496005	hsa-miR-625	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000082	Process	G1/S transition of mitotic cell cycle	ISS
GO:0002931	Process	Response to ischemia	ISS
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	28130356
GO:0004674	Function	Protein serine/threonine kinase activity	ISS
GO:0004683	Function	Calmodulin-dependent protein kinase activity	IBA	21873635
GO:0004683	Function	Calmodulin-dependent protein kinase activity	IMP	18305109
GO:0005515	Function	Protein binding	IPI	17052756, 18305109, 19453375, 20668654, 22939624, 25852190, 27173435, 28130356, 29426014, 31980649, 32296183, 32814053
GO:0005516	Function	Calmodulin binding	IBA	21873635
GO:0005516	Function	Calmodulin binding	IPI	20668654
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005739	Component	Mitochondrion	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005954	Component	Calcium- and calmodulin-dependent protein kinase complex	IDA	20668654, 28130356
GO:0006468	Process	Protein phosphorylation	IDA	17052756
GO:0006468	Process	Protein phosphorylation	IMP	18305109
GO:0006816	Process	Calcium ion transport	ISS
GO:0007223	Process	Wnt signaling pathway, calcium modulating pathway	TAS
GO:0009931	Function	Calcium-dependent protein serine/threonine kinase activity	IMP	18305109
GO:0010666	Process	Positive regulation of cardiac muscle cell apoptotic process	ISS
GO:0014069	Component	Postsynaptic density	IEA
GO:0016301	Function	Kinase activity	IDA	17052756
GO:0018105	Process	Peptidyl-serine phosphorylation	ISS
GO:0030666	Component	Endocytic vesicle membrane	TAS
GO:0035254	Function	Glutamate receptor binding	ISS
GO:0038166	Process	Angiotensin-activated signaling pathway	IDA	20584908
GO:0042802	Function	Identical protein binding	IPI	20668654, 21884935
GO:0042803	Function	Protein homodimerization activity	IPI	20668654
GO:0043005	Component	Neuron projection	IBA	21873635
GO:0043197	Component	Dendritic spine	IDA	28130356
GO:0046777	Process	Protein autophosphorylation	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0046928	Process	Regulation of neurotransmitter secretion	ISS
GO:0048168	Process	Regulation of neuronal synaptic plasticity	ISS
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IMP	17052756
GO:0051346	Process	Negative regulation of hydrolase activity	ISS
GO:0051928	Process	Positive regulation of calcium ion transport	ISS
GO:0060333	Process	Interferon-gamma-mediated signaling pathway	TAS
GO:0060996	Process	Dendritic spine development	IMP	28130356
GO:1900034	Process	Regulation of cellular response to heat	TAS
GO:1902108	Process	Regulation of mitochondrial membrane permeability involved in apoptotic process	ISS
GO:1990443	Process	Peptidyl-threonine autophosphorylation	IMP	28130356
GO:2000124	Process	Regulation of endocannabinoid signaling pathway	ISS
GO:2001222	Process	Regulation of neuron migration	IMP	29100089

Other IDs

• MIM: 114078
• HGNC: 1460
• e!Ensembl: ENSG00000070808

Protein

• UniProt ID: Q9UQM7
• Protein name: Calcium/calmodulin-dependent protein kinase type II subunit alpha (CaM kinase II subunit alpha) (CaMK-II subunit alpha) (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 various processes, such as synaptic plasticity, neurotransmitter release and long-term potentiati
• PDB: 2VZ6, 3SOA, 5IG3, 6OF8, 6VZK, 6W4O, 6W4P, 6X5G, 6X5Q, 7KL0, 7KL1, 7KL2, 7REC, 7UIQ, 7UIR, 7UIS, 7UJP, 7UJQ, 7UJR, 7UJS, 7UJT, 9EOY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	13 → 271	Protein kinase domain	Domain
  PF08332	CaMKII_AD	346 → 473	Calcium/calmodulin dependent protein kinase II association domain	Domain

• Sequence:

  MATITCTRFTEEYQLFEELGKGAFSVVRRCVKVLAGQEYAAKIINTKKLSARDHQKLERE
  ARICRLLKHPNIVRLHDSISEEGHHYLIFDLVTGGELFEDIVAREYYSEADASHCIQQIL
  EAVLHCHQMGVVHRDLKPENLLLASKLKGAAVKLADFGLAIEVEGEQQAWFGFAGTPGYL
  SPEVLRKDPYGKPVDLWACGVILYILLVGYPPFWDEDQHRLYQQIKAGAYDFPSPEWDTV
  TPEAKDLINKMLTINPSKRITAAEALKHPWISHRSTVASCMHRQETVDCLKKFNARRKLK
  GAILTTMLATRNFSGGKSGGNKKSDGVKESSESTNTTIEDEDTKVRKQEIIKVTEQLIEA
  ISNGDFESYTKMCDPGMTAFEPEALGNLVEGLDFHRFYFENLWSRNSKPVHTTILNPHIH
  LMGDESACIAYIRITQYLDAGGIPRTAQSEETRVWHRRDGKWQIVHFHRSGAPSVLPH

• Sequence length: 478

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
Ca2+ pathway
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
Disease name	Disease term	dbSNP ID	References
Developmental delay	Global developmental delay, Gross motor development delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074	29100089
Inflammatory bowel disease	Inflammatory Bowel Diseases	rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs139868987, rs750447828, rs368138379, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468	28067908
Mental retardation	Severe intellectual disability, Intellectual Disability, MENTAL RETARDATION, AUTOSOMAL DOMINANT 53, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131	29560374, 29100089, 28130356, 29560374, 29100089, 25533962, 29784083
Non-syndromic intellectual disability	Autosomal dominant non-syndromic intellectual disability	rs121918049, rs1135401819, rs1553638614, rs1561846159, rs1564493599, rs1563978827
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775	29100089

Unknown
Disease name	Disease term	dbSNP ID	References
Bipolar disorder	Bipolar Disorder		21611732
Congenital digestive system anomalies	Congenital digestive system anomalies		29100089
Congenital epicanthus	Congenital Epicanthus
Hepatolenticular degeneration	Hepatolenticular Degeneration, Hepatic Form of Wilson Disease		23519153
Mental depression	Mental Depression, Depressive disorder, Unipolar Depression, Major Depressive Disorder	rs587778876, rs587778877	21611732, 18068248
Movement disorders	Movement Disorders		29100089
Myoclonic seizures	Generalized myoclonic seizures
Strabismus	Strabismus
Ulcerative colitis	Ulcerative Colitis		28067908
Urogenital abnormalities	Urogenital Abnormalities		29100089