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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	23261
Gene name	Calmodulin binding transcription activator 1
Gene symbol	CAMTA1
Synonyms (NCBI Gene)	CANPMRCECBA
Chromosome	1
Chromosome location	1p36.31-p36.23
Summary	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

203

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 assayqRT-PCRWestern 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 (11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0003690	Function	Double-stranded DNA binding	IBA
GO:0003712	Function	Transcription coregulator activity	IBA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0050885	Process	Neuromuscular process controlling balance	IEA
GO:0070886	Process	Positive regulation of calcineurin-NFAT signaling cascade	IMP	23853098

MIM	HGNC	e!Ensembl
611501	18806	ENSG00000171735

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
CAMTA1-related disorder	Pathogenic	rs2523920375, rs1577313897	RCV004550647 RCV003233923	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar dysfunction with variable cognitive and behavioral abnormalities	Likely pathogenic; Pathogenic	rs2096866859, rs2150160765, rs2149221667, rs2150160606, rs2148504421, rs2149303084, rs776553769, rs2149989087, rs754008719, rs2523729567, rs2523750276, rs863224853, rs2523751784, rs2149303175, rs1558085770 View all (21 more)	RCV001330627 RCV001724752 RCV001780712 RCV001814932 RCV001839060 View all (31 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Pathogenic	rs2095751954	RCV001260652	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of urinary bladder	Likely pathogenic	rs1417768010	RCV005931100	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental abnormality	Likely pathogenic; Pathogenic	rs2149303071	RCV005235644	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic	rs2523535627, rs2096136332	RCV003389152 RCV001171557	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (25)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (74)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	27244217		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	27244217	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	GWASCAT_DG	27244217		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	27244217	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE	Amyotrophic lateral sclerosis	GWASCAT_DG	27244217		★★★★★ ★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)	Amyotrophic lateral sclerosis	GWASCAT_DG	27244217		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	BEFREE	27244217		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	GWASCAT_DG	27244217		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	15709179		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	32157189	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal dominant compelling helio ophthalmic outburst syndrome	Achoo syndrome	GWASCAT_DG	27182965		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28550685		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28550685	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	21584898	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	21951953		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	21951953	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract posterior polar 1	Congenital cataract	Pubtator	21686326	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION	Cerebellar Ataxia With Mental Retardation	GENOMICS_ENGLAND_DG	22693284		★★★★★ ★☆☆☆☆ Found in Text Mining only
CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION	Cerebellar Ataxia With Mental Retardation	ORPHANET_DG	22693284		★★★★★ ★☆☆☆☆ Found in Text Mining only
CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION	Cerebellar Ataxia With Mental Retardation	CLINVAR_DG	24738973		★★★★★ ★☆☆☆☆ Found in Text Mining only
CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION	Cerebellar Ataxia With Mental Retardation	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	17087931		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	32157189	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	23813974, 25466412		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	31757015	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	21951953, 26634513	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	17293876, 19184112		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	21951953		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	16678093, 17470457, 17537720, 22031302, 22693284, 24145135, 24738973, 25049392		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphism	Dysmorphism	BEFREE	24738973		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	31957018	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epithelioid hemangioendothelioma	Epithelioid Hemangioendothelioma	BEFREE	21584898, 21885404, 22429593, 23737213, 24134632, 25353289, 25680571, 25817592, 25961935, 26050962, 26763770, 26811225, 26840265, 28009608, 28585251 View all (5 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelioid hemangioendothelioma	Epithelioid Hemangioendothelioma	ORPHANET_DG	24986479		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelioid hemangioendothelioma	Epithelioid Hemangioendothelioma	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	BEFREE	21857646		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	23468990	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21857646, 23468990		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	24738973		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	BEFREE	26763770, 31662570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplastic hippocampus	Hypoplastic hippocampus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	36785792	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	22693284, 24145135, 24738973		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	32157189	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Liposarcoma, Dedifferentiated	liposarcoma	BEFREE	30382607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27669232		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	37202167	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29662059, 29942085		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	28550685		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	BEFREE	24145135		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	GWASCAT_DG	29942085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	27833920	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	36785792	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12964007, 15709179, 17087931, 21385898, 21857646, 24134632, 25961935, 29372848, 30382607, 31537895		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	12964007, 15138581, 16397034, 17222547, 17667943, 18672103, 21385898		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-progressive cerebellar ataxia with intellectual disability	Cerebellar Ataxia With Mental Retardation	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	28530468		★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	25466412		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pheochromocytoma	Pheochromocytoma	Pubtator	26032282	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	GWASCAT_DG	31095341		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	37466093	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Ataxia	Spastic ataxia	Pubtator	32157189	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	25110239	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Supernumerary mesiodens tooth	Supernumerary Mesiodens Tooth	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

CAMTA1 (calmodulin binding transcription activator 1)