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: 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:0004683	Function	Calmodulin-dependent protein kinase activity	IBA	21873635
GO:0004723	Function	Calcium-dependent protein serine/threonine phosphatase activity	NAS	9060999
GO:0005515	Function	Protein binding	IPI	22939624
GO:0005516	Function	Calmodulin binding	IBA	21873635
GO:0005516	Function	Calmodulin binding	NAS	9060999
GO:0005524	Function	ATP binding	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0005954	Component	Calcium- and calmodulin-dependent protein kinase complex	IDA	20668654
GO:0006468	Process	Protein phosphorylation	IEA
GO:0006470	Process	Protein dephosphorylation	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0010975	Process	Regulation of neuron projection development	IMP	30184290
GO:0014733	Process	Regulation of skeletal muscle adaptation	TAS	15294044
GO:0016020	Component	Membrane	HDA	19946888
GO:0030073	Process	Insulin secretion	NAS	9240463
GO:0030154	Process	Cell differentiation	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	IPI	20668654
GO:0043005	Component	Neuron projection	IBA	21873635
GO:0051924	Process	Regulation of calcium ion transport	TAS	15294044
GO:0060333	Process	Interferon-gamma-mediated signaling pathway	TAS
GO:1900034	Process	Regulation of cellular response to heat	TAS

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

• 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
Disease name	Disease term	dbSNP ID	References
Autism	Autistic Disorder	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Developmental delay	Global developmental 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
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	30054458
Mental retardation	Severe intellectual disability	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
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Psoriasis	Psoriasis	rs281875215, rs587777763, rs281875213, rs281875212	25939698

Unknown
Disease name	Disease term	dbSNP ID	References
Psoriasis vulgaris	Psoriasis vulgaris		26626624
Spasms x-linked	X-linked infantile spasms		28388656