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	54805
Gene name	Cyclin and CBS domain divalent metal cation transport mediator 2
Gene symbol	CNNM2
Synonyms (NCBI Gene)	ACDP2HOMG6HOMGSMRSLC70A2
Chromosome	10
Chromosome location	10q24.32
Summary	This gene encodes a member of the ancient conserved domain containing protein family. Members of this protein family contain a cyclin box motif and have structural similarity to the cyclins. The encoded protein may play an important role in magnesium home

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SNP ID	Visualize variation	Clinical significance	Consequence
rs387906975	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant

170

Show/Hide all (170)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022053	hsa-miR-128-3p	Microarray	17612493
MIRT022806	hsa-miR-124-3p	Microarray	18668037
MIRT027164	hsa-miR-103a-3p	Sequencing	20371350
MIRT029773	hsa-miR-26b-5p	Microarray	19088304
MIRT031855	hsa-miR-16-5p	Sequencing	20371350
MIRT659449	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT659448	hsa-miR-4301	HITS-CLIP	23824327
MIRT668938	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT659446	hsa-miR-188-3p	HITS-CLIP	23824327
MIRT659445	hsa-miR-1260a	HITS-CLIP	23824327
MIRT659444	hsa-miR-1260b	HITS-CLIP	23824327
MIRT659443	hsa-miR-3156-3p	HITS-CLIP	23824327
MIRT659449	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT659448	hsa-miR-4301	HITS-CLIP	23824327
MIRT659447	hsa-miR-5186	HITS-CLIP	23824327
MIRT659446	hsa-miR-188-3p	HITS-CLIP	23824327
MIRT659445	hsa-miR-1260a	HITS-CLIP	23824327
MIRT659444	hsa-miR-1260b	HITS-CLIP	23824327
MIRT659443	hsa-miR-3156-3p	HITS-CLIP	23824327
MIRT027164	hsa-miR-103a-3p	PAR-CLIP	21572407
MIRT055242	hsa-miR-107	PAR-CLIP	21572407
MIRT558642	hsa-miR-503-5p	PAR-CLIP	21572407
MIRT558641	hsa-miR-646	PAR-CLIP	21572407
MIRT055249	hsa-miR-635	PAR-CLIP	21572407
MIRT055254	hsa-miR-6774-5p	PAR-CLIP	21572407
MIRT055251	hsa-miR-4524a-5p	PAR-CLIP	21572407
MIRT055253	hsa-miR-4524b-5p	PAR-CLIP	21572407
MIRT055252	hsa-miR-4642	PAR-CLIP	21572407
MIRT558640	hsa-miR-3940-5p	PAR-CLIP	21572407
MIRT558639	hsa-miR-4507	PAR-CLIP	21572407
MIRT558638	hsa-miR-6839-3p	PAR-CLIP	21572407
MIRT558637	hsa-miR-218-5p	PAR-CLIP	21572407
MIRT558636	hsa-miR-6768-5p	PAR-CLIP	21572407
MIRT558635	hsa-miR-4464	PAR-CLIP	21572407
MIRT558634	hsa-miR-4748	PAR-CLIP	21572407
MIRT558633	hsa-miR-329-5p	PAR-CLIP	21572407
MIRT558632	hsa-miR-616-3p	PAR-CLIP	21572407
MIRT558631	hsa-miR-636	PAR-CLIP	21572407
MIRT558630	hsa-miR-4672	PAR-CLIP	21572407
MIRT558629	hsa-miR-3924	PAR-CLIP	21572407
MIRT558628	hsa-miR-6509-5p	PAR-CLIP	21572407
MIRT558627	hsa-miR-2113	PAR-CLIP	21572407
MIRT538451	hsa-miR-216a-5p	PAR-CLIP	22012620
MIRT538450	hsa-miR-6165	PAR-CLIP	22012620
MIRT538449	hsa-miR-4762-5p	PAR-CLIP	22012620
MIRT538448	hsa-miR-214-3p	PAR-CLIP	22012620
MIRT538447	hsa-miR-3619-5p	PAR-CLIP	22012620
MIRT538446	hsa-miR-761	PAR-CLIP	22012620
MIRT538445	hsa-miR-6870-3p	PAR-CLIP	22012620
MIRT538443	hsa-miR-2277-3p	PAR-CLIP	22012620
MIRT538444	hsa-miR-4423-3p	PAR-CLIP	22012620
MIRT538442	hsa-miR-1272	PAR-CLIP	22012620
MIRT538440	hsa-miR-3682-3p	PAR-CLIP	22012620
MIRT538441	hsa-miR-765	PAR-CLIP	22012620
MIRT538439	hsa-miR-4709-3p	PAR-CLIP	22012620
MIRT449692	hsa-miR-4802-5p	PAR-CLIP	22100165
MIRT449691	hsa-miR-205-3p	PAR-CLIP	22100165
MIRT449690	hsa-miR-490-5p	PAR-CLIP	22100165
MIRT449689	hsa-miR-3689d	PAR-CLIP	22100165
MIRT449688	hsa-miR-6851-5p	PAR-CLIP	22100165
MIRT439168	hsa-let-7c-5p	3'LIFE	25074381
MIRT439168	hsa-let-7c-5p	3'LIFE	25074381
MIRT538451	hsa-miR-216a-5p	PAR-CLIP	26701625
MIRT538443	hsa-miR-2277-3p	PAR-CLIP	26701625
MIRT538444	hsa-miR-4423-3p	PAR-CLIP	26701625
MIRT538449	hsa-miR-4762-5p	PAR-CLIP	26701625
MIRT538445	hsa-miR-6870-3p	PAR-CLIP	26701625
MIRT659449	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT659448	hsa-miR-4301	HITS-CLIP	23824327
MIRT668938	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT659446	hsa-miR-188-3p	HITS-CLIP	23824327
MIRT659445	hsa-miR-1260a	HITS-CLIP	23824327
MIRT659444	hsa-miR-1260b	HITS-CLIP	23824327
MIRT659443	hsa-miR-3156-3p	HITS-CLIP	23824327
MIRT659449	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT659448	hsa-miR-4301	HITS-CLIP	23824327
MIRT659447	hsa-miR-5186	HITS-CLIP	23824327
MIRT659446	hsa-miR-188-3p	HITS-CLIP	23824327
MIRT659445	hsa-miR-1260a	HITS-CLIP	23824327
MIRT659444	hsa-miR-1260b	HITS-CLIP	23824327
MIRT659443	hsa-miR-3156-3p	HITS-CLIP	23824327
MIRT027164	hsa-miR-103a-3p	PAR-CLIP	21572407
MIRT055242	hsa-miR-107	PAR-CLIP	21572407
MIRT558642	hsa-miR-503-5p	PAR-CLIP	21572407
MIRT558641	hsa-miR-646	PAR-CLIP	21572407
MIRT055249	hsa-miR-635	PAR-CLIP	21572407
MIRT055254	hsa-miR-6774-5p	PAR-CLIP	21572407
MIRT055251	hsa-miR-4524a-5p	PAR-CLIP	21572407
MIRT055253	hsa-miR-4524b-5p	PAR-CLIP	21572407
MIRT055252	hsa-miR-4642	PAR-CLIP	21572407
MIRT558640	hsa-miR-3940-5p	PAR-CLIP	21572407
MIRT558639	hsa-miR-4507	PAR-CLIP	21572407
MIRT558638	hsa-miR-6839-3p	PAR-CLIP	21572407
MIRT558637	hsa-miR-218-5p	PAR-CLIP	21572407
MIRT558636	hsa-miR-6768-5p	PAR-CLIP	21572407
MIRT558635	hsa-miR-4464	PAR-CLIP	21572407
MIRT558634	hsa-miR-4748	PAR-CLIP	21572407
MIRT558633	hsa-miR-329-5p	PAR-CLIP	21572407
MIRT558632	hsa-miR-616-3p	PAR-CLIP	21572407
MIRT558631	hsa-miR-636	PAR-CLIP	21572407
MIRT558630	hsa-miR-4672	PAR-CLIP	21572407
MIRT558629	hsa-miR-3924	PAR-CLIP	21572407
MIRT558628	hsa-miR-6509-5p	PAR-CLIP	21572407
MIRT558627	hsa-miR-2113	PAR-CLIP	21572407
MIRT538451	hsa-miR-216a-5p	PAR-CLIP	22012620
MIRT538450	hsa-miR-6165	PAR-CLIP	22012620
MIRT538449	hsa-miR-4762-5p	PAR-CLIP	22012620
MIRT538448	hsa-miR-214-3p	PAR-CLIP	22012620
MIRT538447	hsa-miR-3619-5p	PAR-CLIP	22012620
MIRT538446	hsa-miR-761	PAR-CLIP	22012620
MIRT538445	hsa-miR-6870-3p	PAR-CLIP	22012620
MIRT538443	hsa-miR-2277-3p	PAR-CLIP	22012620
MIRT538444	hsa-miR-4423-3p	PAR-CLIP	22012620
MIRT538442	hsa-miR-1272	PAR-CLIP	22012620
MIRT538440	hsa-miR-3682-3p	PAR-CLIP	22012620
MIRT538441	hsa-miR-765	PAR-CLIP	22012620
MIRT538439	hsa-miR-4709-3p	PAR-CLIP	22012620
MIRT449692	hsa-miR-4802-5p	PAR-CLIP	22100165
MIRT449691	hsa-miR-205-3p	PAR-CLIP	22100165
MIRT449690	hsa-miR-490-5p	PAR-CLIP	22100165
MIRT449689	hsa-miR-3689d	PAR-CLIP	22100165
MIRT449688	hsa-miR-6851-5p	PAR-CLIP	22100165
MIRT899995	hsa-miR-101	CLIP-seq
MIRT899996	hsa-miR-1301	CLIP-seq
MIRT899997	hsa-miR-3126-5p	CLIP-seq
MIRT899998	hsa-miR-3154	CLIP-seq
MIRT899999	hsa-miR-3944-5p	CLIP-seq
MIRT900000	hsa-miR-4660	CLIP-seq
MIRT900001	hsa-miR-4715-5p	CLIP-seq
MIRT900002	hsa-miR-4779	CLIP-seq
MIRT900003	hsa-miR-4797-5p	CLIP-seq
MIRT900004	hsa-miR-493	CLIP-seq
MIRT900005	hsa-miR-5047	CLIP-seq
MIRT900006	hsa-miR-759	CLIP-seq
MIRT1966941	hsa-miR-1915	CLIP-seq
MIRT899997	hsa-miR-3126-5p	CLIP-seq
MIRT1966942	hsa-miR-3157-5p	CLIP-seq
MIRT1966943	hsa-miR-3202	CLIP-seq
MIRT1966944	hsa-miR-369-5p	CLIP-seq
MIRT1966945	hsa-miR-4691-3p	CLIP-seq
MIRT900002	hsa-miR-4779	CLIP-seq
MIRT2202716	hsa-miR-1909	CLIP-seq
MIRT2202717	hsa-miR-4252	CLIP-seq
MIRT1966945	hsa-miR-4691-3p	CLIP-seq
MIRT2447307	hsa-miR-106a	CLIP-seq
MIRT2447308	hsa-miR-106b	CLIP-seq
MIRT2447309	hsa-miR-17	CLIP-seq
MIRT2447310	hsa-miR-20a	CLIP-seq
MIRT2447311	hsa-miR-20b	CLIP-seq
MIRT2447312	hsa-miR-371-3p	CLIP-seq
MIRT2447313	hsa-miR-4438	CLIP-seq
MIRT2447314	hsa-miR-5095	CLIP-seq
MIRT2447315	hsa-miR-519d	CLIP-seq
MIRT2447316	hsa-miR-520g	CLIP-seq
MIRT2447317	hsa-miR-520h	CLIP-seq
MIRT2447318	hsa-miR-93	CLIP-seq
MIRT2447307	hsa-miR-106a	CLIP-seq
MIRT2447308	hsa-miR-106b	CLIP-seq
MIRT2447309	hsa-miR-17	CLIP-seq
MIRT2447310	hsa-miR-20a	CLIP-seq
MIRT2447311	hsa-miR-20b	CLIP-seq
MIRT2447312	hsa-miR-371-3p	CLIP-seq
MIRT2447313	hsa-miR-4438	CLIP-seq
MIRT2447314	hsa-miR-5095	CLIP-seq
MIRT2447315	hsa-miR-519d	CLIP-seq
MIRT2447316	hsa-miR-520g	CLIP-seq
MIRT2447317	hsa-miR-520h	CLIP-seq
MIRT2447318	hsa-miR-93	CLIP-seq
MIRT2447313	hsa-miR-4438	CLIP-seq
MIRT2447314	hsa-miR-5095	CLIP-seq

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005524	Function	ATP binding	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0010960	Process	Magnesium ion homeostasis	IBA
GO:0010960	Process	Magnesium ion homeostasis	IEA
GO:0010960	Process	Magnesium ion homeostasis	IMP	21397062
GO:0015095	Function	Magnesium ion transmembrane transporter activity	IBA
GO:0015095	Function	Magnesium ion transmembrane transporter activity	IEA
GO:0015693	Process	Magnesium ion transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IMP	21397062
GO:0045202	Component	Synapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:1903830	Process	Magnesium ion transmembrane transport	IEA

MIM	HGNC	e!Ensembl
607803	103	ENSG00000148842

Q9H8M5

Protein name

Metal transporter CNNM2 (Ancient conserved domain-containing protein 2) (Cyclin-M2)

Protein function

Divalent metal cation transporter. Mediates transport of divalent metal cations in an order of Mg(2+) > Co(2+) > Mn(2+) > Sr(2+) > Ba(2+) > Cu(2+) > Fe(2+) (By similarity).

PDB

4IY0 , 4IY2 , 4IY4 , 4IYS , 6DJ3 , 6N7E , 8F6D

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01595	DUF21	260 → 431	Cyclin M transmembrane N-terminal domain	Domain
PF00571	CBS	514 → 578	CBS domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Expressed at higher level in brain, kidney and placenta, while it is weakly expressed in skeletal muscle. In the kidney, it is expressed in the distal convoluted tubule and the thick ascending limb of Henle loop. {ECO

Sequence

MIGCGACEPKVKMAGGQAAAALPTWKMAARRSLSARGRGILQAAAGRLLPLLLLSCCCGA
GGCAAVGENEETVIIGLRLEDTNDVSFMEGGALRVSERTRVKLRVYGQNINNETWSRIAF
TEHERRRHSPGERGLGGPAPPEPDSGPQRCGIRTSDIIILPHIILNRRTSGIIEIEIKPL
RKMEKSKSYYLCTSLSTPALGAGGSGSTGGAVGGKGGSGVAGLPPPPWAETTWIYHDGED
TKMIVGEEKKFLLPFWLQVIFISLLLCLSGMFSGLNLGLMALDPMELRIVQNCGTEKEKN
YAKRIEPVRRQGNYLLCSLLLGNVLVNTTLTILLDDIAGSGLVAVVVSTIGIVIFGEIVP
QAICSRHGLAVGANTIFLTKFFMMMTFPASYPVSKLLDCVLGQEIGTVYNREKLLEMLRV
TDPYNDLVKEELNIIQGALELRTKTVEDVMTPLRDCFMITGEAILDFNTMSEIMESGYTR
IPVFEGERSNIVDLLFVKDLAFVDPDDCTPLKTITKFYNHPLHFVFNDTKLDAMLEEFKK
GKSHLAIVQRVNNEGEGDPFYEVLGIVTLEDVIEEIIKSEILDETDLYTDNRTKKKVAHR
ERKQDFSAFKQTDSEMKVKISPQLLLAMHRFLATEVEAFSPSQMSEKILLRLLKHPNVIQ
ELKYDEKNKKAPEYYLYQRNKPVDYFVLILQGKVEVEAGKEGMKFEASAFSYYGVMALTA
SPVPLSLSRTFVVSRTELLAAGSPGENKSPPRPCGLNHSDSLSRSDRIDAVTPTLGSSNN
QLNSSLLQVYIPDYSVRALSDLQFVKISRQQYQNALMASRMDKTPQSSDSENTKIELTLT
ELHDGLPDETANLLNEQNCVTHSKANHSLHNEGAI

Sequence length

875

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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hypomagnesemia	Pathogenic	rs1845550578	RCV001312193	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypomagnesemia, seizures, and intellectual disability 1	Likely pathogenic; Pathogenic	rs2134338484, rs2134149229, rs2134149603, rs2493375718, rs786205909, rs786205910, rs794726858, rs746369588, rs1845545378, rs1845510486, rs1845544924, rs1845545201, rs1845553116, rs2065263811, rs2065688398	RCV002488234 RCV001842263 RCV002266698 RCV002290139 RCV000172913 View all (11 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Moyamoya angiopathy	Likely pathogenic	rs1845547583	RCV004704483	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal hypomagnesemia 6	Likely pathogenic; Pathogenic	rs2134338484, rs2493375756, rs2493376631, rs2493376669, rs1564873187, rs1564803221, rs387906975	RCV002488234 RCV003327311 RCV003327312 RCV003327313 RCV003327314 RCV000023660 RCV000023661 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (33)

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.
ANOREXIA NERVOSA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMIAS, CARDIAC	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN ANEURYSM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC ARRHYTHMIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CNNM2-related disorder	Likely benign; Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CNNM2-related neurodevelopmental disorder and hypomagnesemia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF MAGNESIUM METABOLISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARGE ARTERY STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSTRUCTIVE SLEEP APNEA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal Hypomagnesemia, Dominant	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETANY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	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
Anxiety	Anxiety Disorder	GWASCAT_DG	29942085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	GWASCAT_DG	23453885		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	GWASDB_DG	23453885		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	23453885		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	26596365		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Calcium Metabolism Disorders	Calcium metabolism disorders	Pubtator	32997713	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	23453885		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	23027747		★★★★★ ★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	CTD_human_DG	23027747		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	24699222, 30026055		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	30180964		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	GWASDB_DG	24262325		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	25740055	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	BEFREE	30180964		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1	Coronary artery disease	GWASDB_DG	23202125		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	28843344	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21347282, 21378990		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASCAT_DG	21378990, 24262325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	30180964		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28224192		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28224192		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30026055		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	36300369	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	23027747		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	30026055		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial primary hypomagnesemia with normocalciuria and normocalcemia	Hypomagnesemia With Normocalciuria And Normocalcemia	ORPHANET_DG	21397062		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial primary hypomagnesemia with normocalciuria and normocalcemia	Hypomagnesemia With Normocalciuria And Normocalcemia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CTD_human_DG	23027747		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	35170241	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30180964		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	GWASCAT_DG	30487518		★★★★★ ★☆☆☆☆ Found in Text Mining only
HYPOMAGNESEMIA 6, RENAL	Renal Hypomagnesemia	UNIPROT_DG	21397062		★★★★★ ★☆☆☆☆ Found in Text Mining only
HYPOMAGNESEMIA 6, RENAL	Renal Hypomagnesemia	GENOMICS_ENGLAND_DG	27604308		★★★★★ ★☆☆☆☆ Found in Text Mining only
HYPOMAGNESEMIA 6, RENAL	Renal Hypomagnesemia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
HYPOMAGNESEMIA 6, RENAL	Renal Hypomagnesemia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION	Hypomagnesemia, Seizures, And Mental Retardation	GENOMICS_ENGLAND_DG	24699222, 27604308		★★★★★ ★☆☆☆☆ Found in Text Mining only
HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION	Hypomagnesemia, Seizures, And Mental Retardation	UNIPROT_DG	24699222		★★★★★ ★☆☆☆☆ Found in Text Mining only
HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION	Hypomagnesemia, Seizures, And Mental Retardation	CLINVAR_DG	24699222		★★★★★ ★☆☆☆☆ Found in Text Mining only
HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION	Hypomagnesemia, Seizures, And Mental Retardation	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	24699222, 30026055		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	35170241	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	GWASDB_DG	20364137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	GWASCAT_DG	20364137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	30994044	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	36300369	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	23027747		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	CTD_human_DG	23027747		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Language Disorders	Language development disorders	Pubtator	35170241	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	33883344	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	23453885		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation	Mental retardation	BEFREE	24699222		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	GWASDB_DG	23793025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	GWASCAT_DG	23793025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Moyamoya disease 1	Moyamoya disease	Pubtator	30994044	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	25738804		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	36408691	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	GWASDB_DG	19915575		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23810916	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASDB_DG	21926974		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	21926974, 23453885, 26198764, 28991256, 30285260		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	24160291, 24311551, 26596365, 27004590, 27401531		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	24160291, 24311551		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	35170241	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe intellectual disability	Mental retardation	BEFREE	24699222		★★★★★ ★☆☆☆☆ Found in Text Mining only
Single Seizure	Seizure	CTD_human_DG	23027747		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	23027747		★★★★★ ★☆☆☆☆ Found in Text Mining only
Visual seizure	Seizure	CTD_human_DG	23027747		★★★★★ ★☆☆☆☆ Found in Text Mining only

CNNM2 (cyclin and CBS domain divalent metal cation transport mediator 2)