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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	23261
Gene name Gene Name - the full gene name approved by the HGNC.	Calmodulin binding transcription activator 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CAMTA1
Synonyms (NCBI Gene) Gene synonyms aliases	CANPMR, CECBA
Disease Acronyms (UniProt) Disease acronyms from UniProt database	CECBA
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1p36.31-p36.23
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene contains a CG1 DNA-binding domain, a transcription factor immunoglobulin domain, ankyrin repeats, and calmodulin-binding IQ motifs. The encoded protein is thought to be a transcription factor and may be a tumor suppressor.

Show/Hide all(25)

SNP ID	Visualize variation	Clinical significance	Consequence
rs863224853	A>G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs886041635	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs886041999	A>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant
rs886043243	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1057523792	C>T	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1057524775	G>T	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs1064795180	->CG	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1064796146	A>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1085307743	G>-	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs1135401818	C>T	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant
rs1485778259	C>A,T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, stop gained
rs1553231167	G>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, stop gained
rs1553238271	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, stop gained
rs1553238311	G>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1553239242	->G	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1553240332	C>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1553272873	G>A	Likely-pathogenic	Intron variant, genic downstream transcript variant, coding sequence variant, stop gained
rs1553280067	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1553288180	C>G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, stop gained
rs1553288266	C>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1576688799	A>G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, missense variant
rs1576691273	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, genic upstream transcript variant
rs1577313897	AG>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1577362316	G>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1577362553	A>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant

Show/Hide all(203)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001953	hsa-miR-129-5p	Luciferase reporter assay	18189265
MIRT005101	hsa-miR-155-5p	Microarray	19193853
MIRT005101	hsa-miR-155-5p	Proteomics	18668040
MIRT024244	hsa-miR-218-5p	Sequencing	20371350
MIRT025573	hsa-miR-34a-5p	Sequencing	20371350
MIRT027874	hsa-miR-96-5p	Sequencing	20371350
MIRT053290	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	23853098
MIRT147927	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT147921	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT147927	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT147918	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT147931	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT147922	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT147935	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT147919	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT147920	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT147921	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT860901	hsa-miR-100	CLIP-seq
MIRT860902	hsa-miR-101	CLIP-seq
MIRT860903	hsa-miR-105	CLIP-seq
MIRT860904	hsa-miR-106a	CLIP-seq
MIRT860905	hsa-miR-106b	CLIP-seq
MIRT860906	hsa-miR-1208	CLIP-seq
MIRT860907	hsa-miR-1228	CLIP-seq
MIRT860908	hsa-miR-124	CLIP-seq
MIRT860909	hsa-miR-1252	CLIP-seq
MIRT860910	hsa-miR-130a	CLIP-seq
MIRT860911	hsa-miR-130b	CLIP-seq
MIRT860912	hsa-miR-132	CLIP-seq
MIRT860913	hsa-miR-1324	CLIP-seq
MIRT860914	hsa-miR-140-3p	CLIP-seq
MIRT860915	hsa-miR-146a	CLIP-seq
MIRT860916	hsa-miR-146b-5p	CLIP-seq
MIRT860917	hsa-miR-17	CLIP-seq
MIRT860918	hsa-miR-1913	CLIP-seq
MIRT860919	hsa-miR-19a	CLIP-seq
MIRT860920	hsa-miR-19b	CLIP-seq
MIRT860921	hsa-miR-20a	CLIP-seq
MIRT860922	hsa-miR-20b	CLIP-seq
MIRT860923	hsa-miR-212	CLIP-seq
MIRT860924	hsa-miR-25	CLIP-seq
MIRT860925	hsa-miR-300	CLIP-seq
MIRT860926	hsa-miR-301a	CLIP-seq
MIRT860927	hsa-miR-301b	CLIP-seq
MIRT860928	hsa-miR-302a	CLIP-seq
MIRT860929	hsa-miR-302b	CLIP-seq
MIRT860930	hsa-miR-302c	CLIP-seq
MIRT860931	hsa-miR-302d	CLIP-seq
MIRT860932	hsa-miR-302e	CLIP-seq
MIRT860933	hsa-miR-3149	CLIP-seq
MIRT860934	hsa-miR-3151	CLIP-seq
MIRT860935	hsa-miR-3158-5p	CLIP-seq
MIRT860936	hsa-miR-3160-3p	CLIP-seq
MIRT860937	hsa-miR-32	CLIP-seq
MIRT860938	hsa-miR-324-3p	CLIP-seq
MIRT860939	hsa-miR-329	CLIP-seq
MIRT860940	hsa-miR-331-5p	CLIP-seq
MIRT860941	hsa-miR-338-5p	CLIP-seq
MIRT860942	hsa-miR-3609	CLIP-seq
MIRT860943	hsa-miR-3613-3p	CLIP-seq
MIRT860944	hsa-miR-3617	CLIP-seq
MIRT860945	hsa-miR-362-3p	CLIP-seq
MIRT860946	hsa-miR-363	CLIP-seq
MIRT860947	hsa-miR-3664-5p	CLIP-seq
MIRT860948	hsa-miR-3665	CLIP-seq
MIRT860949	hsa-miR-3666	CLIP-seq
MIRT860950	hsa-miR-3667-3p	CLIP-seq
MIRT860951	hsa-miR-367	CLIP-seq
MIRT860952	hsa-miR-3675-3p	CLIP-seq
MIRT860953	hsa-miR-3692	CLIP-seq
MIRT860954	hsa-miR-3714	CLIP-seq
MIRT860955	hsa-miR-372	CLIP-seq
MIRT860956	hsa-miR-373	CLIP-seq
MIRT860957	hsa-miR-377	CLIP-seq
MIRT860958	hsa-miR-381	CLIP-seq
MIRT860959	hsa-miR-382	CLIP-seq
MIRT860960	hsa-miR-3908	CLIP-seq
MIRT860961	hsa-miR-3910	CLIP-seq
MIRT860962	hsa-miR-3923	CLIP-seq
MIRT860963	hsa-miR-3978	CLIP-seq
MIRT860964	hsa-miR-409-3p	CLIP-seq
MIRT860965	hsa-miR-4265	CLIP-seq
MIRT860966	hsa-miR-4283	CLIP-seq
MIRT860967	hsa-miR-4295	CLIP-seq
MIRT860968	hsa-miR-4296	CLIP-seq
MIRT860969	hsa-miR-4317	CLIP-seq
MIRT860970	hsa-miR-432	CLIP-seq
MIRT860971	hsa-miR-4322	CLIP-seq
MIRT860972	hsa-miR-4328	CLIP-seq
MIRT860973	hsa-miR-4447	CLIP-seq
MIRT860974	hsa-miR-4472	CLIP-seq
MIRT860975	hsa-miR-4487	CLIP-seq
MIRT860976	hsa-miR-4489	CLIP-seq
MIRT860977	hsa-miR-4506	CLIP-seq
MIRT860978	hsa-miR-4528	CLIP-seq
MIRT860979	hsa-miR-454	CLIP-seq
MIRT860980	hsa-miR-4666-3p	CLIP-seq
MIRT860981	hsa-miR-4675	CLIP-seq
MIRT860982	hsa-miR-4677-3p	CLIP-seq
MIRT860983	hsa-miR-4678	CLIP-seq
MIRT860984	hsa-miR-4679	CLIP-seq
MIRT860985	hsa-miR-4714-5p	CLIP-seq
MIRT860986	hsa-miR-4724-3p	CLIP-seq
MIRT860987	hsa-miR-4736	CLIP-seq
MIRT860988	hsa-miR-4741	CLIP-seq
MIRT860989	hsa-miR-4749-3p	CLIP-seq
MIRT860990	hsa-miR-4766-5p	CLIP-seq
MIRT860991	hsa-miR-4795-3p	CLIP-seq
MIRT860992	hsa-miR-4796-3p	CLIP-seq
MIRT860993	hsa-miR-491-5p	CLIP-seq
MIRT860994	hsa-miR-506	CLIP-seq
MIRT860995	hsa-miR-511	CLIP-seq
MIRT860996	hsa-miR-512-3p	CLIP-seq
MIRT860997	hsa-miR-519a	CLIP-seq
MIRT860998	hsa-miR-519b-3p	CLIP-seq
MIRT860999	hsa-miR-519c-3p	CLIP-seq
MIRT861000	hsa-miR-519d	CLIP-seq
MIRT861001	hsa-miR-520a-3p	CLIP-seq
MIRT861002	hsa-miR-520b	CLIP-seq
MIRT861003	hsa-miR-520c-3p	CLIP-seq
MIRT861004	hsa-miR-520d-3p	CLIP-seq
MIRT861005	hsa-miR-520e	CLIP-seq
MIRT861006	hsa-miR-526b	CLIP-seq
MIRT861007	hsa-miR-548a-5p	CLIP-seq
MIRT861008	hsa-miR-548ab	CLIP-seq
MIRT861009	hsa-miR-548ac	CLIP-seq
MIRT861010	hsa-miR-548ae	CLIP-seq
MIRT861011	hsa-miR-548ah	CLIP-seq
MIRT861012	hsa-miR-548aj	CLIP-seq
MIRT861013	hsa-miR-548ak	CLIP-seq
MIRT861014	hsa-miR-548am	CLIP-seq
MIRT861015	hsa-miR-548an	CLIP-seq
MIRT861016	hsa-miR-548b-5p	CLIP-seq
MIRT861017	hsa-miR-548c-5p	CLIP-seq
MIRT861018	hsa-miR-548d-3p	CLIP-seq
MIRT861019	hsa-miR-548d-5p	CLIP-seq
MIRT861020	hsa-miR-548h	CLIP-seq
MIRT861021	hsa-miR-548i	CLIP-seq
MIRT861022	hsa-miR-548j	CLIP-seq
MIRT861023	hsa-miR-548w	CLIP-seq
MIRT861024	hsa-miR-548x	CLIP-seq
MIRT861025	hsa-miR-548y	CLIP-seq
MIRT861026	hsa-miR-548z	CLIP-seq
MIRT861027	hsa-miR-555	CLIP-seq
MIRT861028	hsa-miR-558	CLIP-seq
MIRT861029	hsa-miR-559	CLIP-seq
MIRT861030	hsa-miR-570	CLIP-seq
MIRT861031	hsa-miR-578	CLIP-seq
MIRT861032	hsa-miR-582-5p	CLIP-seq
MIRT861033	hsa-miR-586	CLIP-seq
MIRT861034	hsa-miR-589	CLIP-seq
MIRT861035	hsa-miR-622	CLIP-seq
MIRT861036	hsa-miR-641	CLIP-seq
MIRT861037	hsa-miR-668	CLIP-seq
MIRT861038	hsa-miR-720	CLIP-seq
MIRT861039	hsa-miR-764	CLIP-seq
MIRT861040	hsa-miR-889	CLIP-seq
MIRT861041	hsa-miR-92a	CLIP-seq
MIRT861042	hsa-miR-92b	CLIP-seq
MIRT861043	hsa-miR-93	CLIP-seq
MIRT861044	hsa-miR-99a	CLIP-seq
MIRT861045	hsa-miR-99b	CLIP-seq
MIRT1921542	hsa-miR-4263	CLIP-seq
MIRT1955512	hsa-miR-320a	CLIP-seq
MIRT1955513	hsa-miR-320b	CLIP-seq
MIRT1955514	hsa-miR-320c	CLIP-seq
MIRT1955515	hsa-miR-320d	CLIP-seq
MIRT1955516	hsa-miR-3614-5p	CLIP-seq
MIRT1955517	hsa-miR-3942-3p	CLIP-seq
MIRT860972	hsa-miR-4328	CLIP-seq
MIRT1955518	hsa-miR-4429	CLIP-seq
MIRT1955519	hsa-miR-4672	CLIP-seq
MIRT1955520	hsa-miR-4738-3p	CLIP-seq
MIRT1955521	hsa-miR-767-3p	CLIP-seq
MIRT1955512	hsa-miR-320a	CLIP-seq
MIRT1955513	hsa-miR-320b	CLIP-seq
MIRT1955514	hsa-miR-320c	CLIP-seq
MIRT1955515	hsa-miR-320d	CLIP-seq
MIRT860947	hsa-miR-3664-5p	CLIP-seq
MIRT1955517	hsa-miR-3942-3p	CLIP-seq
MIRT2193205	hsa-miR-431	CLIP-seq
MIRT1955518	hsa-miR-4429	CLIP-seq
MIRT2193206	hsa-miR-450b-5p	CLIP-seq
MIRT2193207	hsa-miR-507	CLIP-seq
MIRT2193208	hsa-miR-513b	CLIP-seq
MIRT2193209	hsa-miR-557	CLIP-seq
MIRT2193210	hsa-miR-579	CLIP-seq
MIRT2193210	hsa-miR-579	CLIP-seq
MIRT2496283	hsa-miR-1183	CLIP-seq
MIRT860944	hsa-miR-3617	CLIP-seq
MIRT2496284	hsa-miR-4684-3p	CLIP-seq
MIRT861009	hsa-miR-548ac	CLIP-seq
MIRT861010	hsa-miR-548ae	CLIP-seq
MIRT861012	hsa-miR-548aj	CLIP-seq
MIRT861014	hsa-miR-548am	CLIP-seq
MIRT861018	hsa-miR-548d-3p	CLIP-seq
MIRT861024	hsa-miR-548x	CLIP-seq
MIRT861026	hsa-miR-548z	CLIP-seq
MIRT2496285	hsa-miR-593	CLIP-seq
MIRT861036	hsa-miR-641	CLIP-seq
MIRT2496283	hsa-miR-1183	CLIP-seq
MIRT860944	hsa-miR-3617	CLIP-seq
MIRT861036	hsa-miR-641	CLIP-seq

Show/Hide all(8)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003690	Function	Double-stranded DNA binding	IBA	21873635
GO:0003712	Function	Transcription coregulator activity	IBA	21873635
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005730	Component	Nucleolus	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0035307	Process	Positive regulation of protein dephosphorylation	IMP	23853098
GO:0070886	Process	Positive regulation of calcineurin-NFAT signaling cascade	IMP	23853098

MIM	HGNC	e!Ensembl
611501	18806	ENSG00000171735

Protein

UniProt ID

Q9Y6Y1

Protein name

Calmodulin-binding transcription activator 1

Protein function

Transcriptional activator.

PDB

2CXK

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03859	CG-1	69 → 182	CG-1 domain	Domain
PF01833	TIG	872 → 952	IPT/TIG domain	Domain
PF00612	IQ	1594 → 1609	IQ calmodulin-binding motif	Motif

Tissue specificity

TISSUE SPECIFICITY: Normally expressed in non-neoplastic adult central nervous system tissues: detected in whole brain, cerebellum, brain cortex, occipital lobe, frontal lobe, temporal lobe, putamen. Expression levels are low in oligodendroglial tumors, a

Sequence

MWRAEGKWLPKTSRKSVSQSVFCGTSTYCVLNTVPPIEDDHGNSNSSHVKIFLPKKLLEC
LPKCSSLPKERHRWNTNEEIAAYLITFEKHEEWLTTSPKTRPQNGSMILYNRKKVKYRKD
GYCWKKRKDGKTTREDHMKLKVQGVECLYGCYVHSSIIPTFHRRCYWLLQNPDIVLVHYL
NVPAIEDCGKPCGPILCSINTDKKEWAKWTKEELIGQLKPMFHGIKWTCSNGNSSSGFSV
EQLVQQILDSHQTKPQPRTHNCLCTGSLGAGGSVHHKCNSAKHRIISPKVEPRTGGYGSH
SEVQHNDVSEGKHEHSHSKGSSREKRNGKVAKPVLLHQSSTEVSSTNQVEVPDTTQSSPV
SISSGLNSDPDMVDSPVVTGVSGMAVASVMGSLSQSATVFMSEVTNEAVYTMSPTAGPNH
HLLSPDASQGLVLAVSSDGHKFAFPTTGSSESLSMLPTNVSEELVLSTTLDGGRKIPETT
MNFDPDCFLNNPKQGQTYGGGGLKAEMVSSNIRHSPPGERSFSFTTVLTKEIKTEDTSFE
QQMAKEAYSSSAAAVAASSLTLTAGSSLLPSGGGLSPSTTLEQMDFSAIDSNKDYTSSFS
QTGHSPHIHQTPSPSFFLQDASKPLPVEQNTHSSLSDSGGTFVMPTVKTEASSQTSSCSG
HVETRIESTSSLHLMQFQANFQAMTAEGEVTMETSQAAEGSEVLLKSGELQACSSEHYLQ
PETNGVIRSAGGVPILPGNVVQGLYPVAQPSLGNASNMELSLDHFDISFSNQFSDLINDF
ISVEGGSSTIYGHQLVSGDSTALSQSEDGARAPFTQAEMCLPCCSPQQGSLQLSSSEGGA
STMAYMHVAEVVSAASAQGTLGMLQQSGRVFMVTDYSPEWSYPEGGVKVLITGPWQEASN
NYSCLFDQISVPASLIQPGVLRCYCPAHDTGLVTLQVAFNNQIISNSVVFEYKARALPTL
PSSQHDWLSLDDNQFRMSILERLEQMERRMAEMTGSQQHKQASGGGSSGGGSGSGNGGSQ
AQCASGTGALGSCFESRVVVVCEKMMSRACWAKSKHLIHSKTFRGMTLLHLAAAQGYATL
IQTLIKWRTKHADSIDLELEVDPLNVDHFSCTPLMWACALGHLEAAVVLYKWDRRAISIP
DSLGRLPLGIARSRGHVKLAECLEHLQRDEQAQLGQNPRIHCPASEEPSTESWMAQWHSE
AISSPEIPKGVTVIASTNPELRRPRSEPSNYYSSESHKDYPAPKKHKLNPEYFQTRQEKL
LPTALSLEEPNIRKQSPSSKQSVPETLSPSEGVRDFSRELSPPTPETAAFQASGSQPVGK
WNSKDLYIGVSTVQVTGNPKGTSVGKEAAPSQVRPREPMSVLMMANREVVNTELGSYRDS
AENEECGQPMDDIQVNMMTLAEHIIEATPDRIKQENFVPMESSGLERTDPATISSTMSWL
ASYLADADCLPSAAQIRSAYNEPLTPSSNTSLSPVGSPVSEIAFEKPNLPSAADWSEFLS
ASTSEKVENEFAQLTLSDHEQRELYEAARLVQTAFRKYKGRPLREQQEVAAAVIQRCYRK
YKQYALYKKMTQAAILIQSKFRSYYEQKKFQQSRRAAVLIQKYYRSYKKCGKRRQARRTA
VIVQQKLRSSLLTKKQDQAARKIMRFLRRCRHSPLVDHRLYKRSERIEKGQGT

Sequence length

1673

Interactions

View interactions

Show/Hide Causal Diseases (9)

Disease term	Disease name	dbSNP ID	References
Causal
Amyotrophic lateral sclerosis	AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder), AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE	rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733 View all (171 more)	27244217
Autism	Autistic behavior	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699 View all (8 more)
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237 View all (293 more)	17293876, 19184112
Lateral sclerosis	AMYOTROPHIC LATERAL SCLEROSIS 1, Amyotrophic Lateral Sclerosis, Sporadic	rs386134181, rs386134176, rs386134174, rs386134184, rs386134178, rs1693780539, rs1574698048	27244217
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Mental retardation	Mild Mental Retardation	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Hypotonia	Neonatal Hypotonia	rs141138948, rs397517172, rs869312824, rs1583169151
Prostate cancer	Prostate carcinoma	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	31095341

Show/Hide Unknown Diseases (6)

Disease term	Disease name	References	Source
Unknown
Mental depression	Major Depressive Disorder	29662059, 29942085	ClinVar
Neuroticism	Neuroticism		GWAS
Alzheimer disease	Alzheimer disease		GWAS
Metabolic Syndrome	Metabolic Syndrome		GWAS
Restless Legs Syndrome	Restless Legs Syndrome		GWAS
Insomnia	Insomnia		GWAS

Show/Hide Text Mining Associations (32)

Disease Name	Relationship Type	References
Associations from Text Mining
Amyotrophic Lateral Sclerosis	Associate	27244217
Amyotrophic lateral sclerosis 1	Associate	27244217
Ataxia	Associate	32157189
Breast Neoplasms	Associate	28550685
Carcinogenesis	Associate	21584898
Cardiovascular Diseases	Associate	21951953
Cataract Age Related Nuclear	Associate	21686326
Cataract posterior polar 1	Associate	21686326
Chemical and Drug Induced Liver Injury	Associate	31662570
Congenital Abnormalities	Associate	32157189
Diabetes Gestational	Associate	31757015
Diabetes Mellitus Type 2	Associate	21951953, 26634513
Epilepsy	Associate	31957018
Glioblastoma	Associate	23468990
Hemangioendothelioma	Associate	31662570
Hemangioendothelioma Epithelioid	Associate	21584898, 21948309, 22429593, 24986479, 25353289, 25963905, 26840265, 27515856, 31537895, 31577358, 32170768
Hypoxia	Associate	36785792
Intellectual Disability	Associate	32157189
Liver Neoplasms	Associate	37202167
Muscle Spasticity	Associate	32157189
Muscular Atrophy	Stimulate	35800215
Myasthenia Gravis	Associate	27833920
Myocardial Infarction	Associate	36785792
Neoplasms	Inhibit	23468990
Neoplasms	Associate	25110239, 28550685
Pheochromocytoma	Associate	26032282
Pregnancy Ectopic	Associate	34215268
Pulmonary Disease Chronic Obstructive	Associate	37466093
Spastic Ataxia	Associate	32157189
Spinocerebellar Degenerations	Associate	32157189
Stomach Diseases	Associate	25110239
Thymoma	Associate	27833920

CAMTA1 (calmodulin binding transcription activator 1)