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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9863
Gene name	Membrane associated guanylate kinase, WW and PDZ domain containing 2
Gene symbol	MAGI2
Synonyms (NCBI Gene)	ACVRIP1AIP-1AIP1ARIP1MAGI-2NPHS15SSCAM
Chromosome	7
Chromosome location	7q21.11
Summary	The protein encoded by this gene interacts with atrophin-1. Atrophin-1 contains a polyglutamine repeat, expansion of which is responsible for dentatorubral and pallidoluysian atrophy. This encoded protein is characterized by two WW domains, a guanylate ki

Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs144078604	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs144574076	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs148580718	G>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs587780386	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs1135402911	C>-	Pathogenic	Downstream transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1135402913	->GCCAGTCT	Pathogenic	Coding sequence variant, frameshift variant

149

Show/Hide all (149)

miRTarBase ID	miRNA	Experiments	Reference
MIRT438178	hsa-miR-134-5p	5.0	24258346
MIRT438178	hsa-miR-134-5p	5.0	24258346
MIRT438177	hsa-miR-487b-3p	5.0	24258346
MIRT438176	hsa-miR-655-3p	5.0	24258346
MIRT438178	hsa-miR-134-5p	5.0	24258346
MIRT438178	hsa-miR-134-5p	5.0	24258346
MIRT438177	hsa-miR-487b-3p	5.0	24258346
MIRT438176	hsa-miR-655-3p	5.0	24258346
MIRT527015	hsa-miR-4704-5p	PAR-CLIP	20371350
MIRT527013	hsa-miR-5690	PAR-CLIP	20371350
MIRT527014	hsa-miR-4660	PAR-CLIP	20371350
MIRT527012	hsa-miR-3944-5p	PAR-CLIP	20371350
MIRT527011	hsa-miR-1301-3p	PAR-CLIP	20371350
MIRT527010	hsa-miR-5047	PAR-CLIP	20371350
MIRT527015	hsa-miR-4704-5p	PAR-CLIP	20371350
MIRT527013	hsa-miR-5690	PAR-CLIP	20371350
MIRT527014	hsa-miR-4660	PAR-CLIP	20371350
MIRT527012	hsa-miR-3944-5p	PAR-CLIP	20371350
MIRT527011	hsa-miR-1301-3p	PAR-CLIP	20371350
MIRT527010	hsa-miR-5047	PAR-CLIP	20371350
MIRT570938	hsa-miR-3912-5p	PAR-CLIP	20371350
MIRT527015	hsa-miR-4704-5p	PAR-CLIP	22012620
MIRT527013	hsa-miR-5690	PAR-CLIP	22012620
MIRT527014	hsa-miR-4660	PAR-CLIP	22012620
MIRT527012	hsa-miR-3944-5p	PAR-CLIP	22012620
MIRT527011	hsa-miR-1301-3p	PAR-CLIP	22012620
MIRT527010	hsa-miR-5047	PAR-CLIP	22012620
MIRT527015	hsa-miR-4704-5p	PAR-CLIP	20371350
MIRT527013	hsa-miR-5690	PAR-CLIP	20371350
MIRT527014	hsa-miR-4660	PAR-CLIP	20371350
MIRT527012	hsa-miR-3944-5p	PAR-CLIP	20371350
MIRT527011	hsa-miR-1301-3p	PAR-CLIP	20371350
MIRT527010	hsa-miR-5047	PAR-CLIP	20371350
MIRT527015	hsa-miR-4704-5p	PAR-CLIP	20371350
MIRT527013	hsa-miR-5690	PAR-CLIP	20371350
MIRT527014	hsa-miR-4660	PAR-CLIP	20371350
MIRT527012	hsa-miR-3944-5p	PAR-CLIP	20371350
MIRT527011	hsa-miR-1301-3p	PAR-CLIP	20371350
MIRT527010	hsa-miR-5047	PAR-CLIP	20371350
MIRT570938	hsa-miR-3912-5p	PAR-CLIP	20371350
MIRT527015	hsa-miR-4704-5p	PAR-CLIP	22012620
MIRT527013	hsa-miR-5690	PAR-CLIP	22012620
MIRT527014	hsa-miR-4660	PAR-CLIP	22012620
MIRT527012	hsa-miR-3944-5p	PAR-CLIP	22012620
MIRT527011	hsa-miR-1301-3p	PAR-CLIP	22012620
MIRT527010	hsa-miR-5047	PAR-CLIP	22012620
MIRT1125921	hsa-miR-101	CLIP-seq
MIRT1125922	hsa-miR-106a	CLIP-seq
MIRT1125923	hsa-miR-106b	CLIP-seq
MIRT1125924	hsa-miR-130a	CLIP-seq
MIRT1125925	hsa-miR-130b	CLIP-seq
MIRT1125926	hsa-miR-140-5p	CLIP-seq
MIRT1125927	hsa-miR-144	CLIP-seq
MIRT1125928	hsa-miR-17	CLIP-seq
MIRT1125929	hsa-miR-19a	CLIP-seq
MIRT1125930	hsa-miR-19b	CLIP-seq
MIRT1125931	hsa-miR-20a	CLIP-seq
MIRT1125932	hsa-miR-20b	CLIP-seq
MIRT1125933	hsa-miR-216a	CLIP-seq
MIRT1125934	hsa-miR-216b	CLIP-seq
MIRT1125935	hsa-miR-301a	CLIP-seq
MIRT1125936	hsa-miR-301b	CLIP-seq
MIRT1125937	hsa-miR-30a	CLIP-seq
MIRT1125938	hsa-miR-30b	CLIP-seq
MIRT1125939	hsa-miR-30c	CLIP-seq
MIRT1125940	hsa-miR-30d	CLIP-seq
MIRT1125941	hsa-miR-30e	CLIP-seq
MIRT1125942	hsa-miR-3194-3p	CLIP-seq
MIRT1125943	hsa-miR-3545-5p	CLIP-seq
MIRT1125944	hsa-miR-3607-3p	CLIP-seq
MIRT1125945	hsa-miR-3646	CLIP-seq
MIRT1125946	hsa-miR-3666	CLIP-seq
MIRT1125947	hsa-miR-3686	CLIP-seq
MIRT1125948	hsa-miR-3973	CLIP-seq
MIRT1125949	hsa-miR-4295	CLIP-seq
MIRT1125950	hsa-miR-4460	CLIP-seq
MIRT1125951	hsa-miR-454	CLIP-seq
MIRT1125952	hsa-miR-4652-3p	CLIP-seq
MIRT1125953	hsa-miR-4775	CLIP-seq
MIRT1125954	hsa-miR-485-3p	CLIP-seq
MIRT1125955	hsa-miR-487a	CLIP-seq
MIRT1125956	hsa-miR-490-5p	CLIP-seq
MIRT1125957	hsa-miR-519a	CLIP-seq
MIRT1125958	hsa-miR-519b-3p	CLIP-seq
MIRT1125959	hsa-miR-519c-3p	CLIP-seq
MIRT1125960	hsa-miR-519d	CLIP-seq
MIRT1125961	hsa-miR-520g	CLIP-seq
MIRT1125962	hsa-miR-520h	CLIP-seq
MIRT1125963	hsa-miR-548n	CLIP-seq
MIRT1125964	hsa-miR-548t	CLIP-seq
MIRT1125965	hsa-miR-93	CLIP-seq
MIRT2035572	hsa-miR-1321	CLIP-seq
MIRT2035573	hsa-miR-1915	CLIP-seq
MIRT2035574	hsa-miR-205	CLIP-seq
MIRT2035575	hsa-miR-412	CLIP-seq
MIRT2035576	hsa-miR-4270	CLIP-seq
MIRT2035577	hsa-miR-4441	CLIP-seq
MIRT2035578	hsa-miR-4677-3p	CLIP-seq
MIRT2035579	hsa-miR-4679	CLIP-seq
MIRT2035580	hsa-miR-4739	CLIP-seq
MIRT2035581	hsa-miR-4756-5p	CLIP-seq
MIRT2035582	hsa-miR-548aa	CLIP-seq
MIRT2266065	hsa-miR-3688-3p	CLIP-seq
MIRT2453615	hsa-miR-2113	CLIP-seq
MIRT2453616	hsa-miR-218	CLIP-seq
MIRT2453617	hsa-miR-3140-3p	CLIP-seq
MIRT2453618	hsa-miR-636	CLIP-seq
MIRT2565333	hsa-miR-1	CLIP-seq
MIRT2565334	hsa-miR-1246	CLIP-seq
MIRT2565335	hsa-miR-1262	CLIP-seq
MIRT2565336	hsa-miR-141	CLIP-seq
MIRT2565337	hsa-miR-154	CLIP-seq
MIRT2565338	hsa-miR-200a	CLIP-seq
MIRT2565339	hsa-miR-206	CLIP-seq
MIRT2565340	hsa-miR-2392	CLIP-seq
MIRT2565341	hsa-miR-27a	CLIP-seq
MIRT2565342	hsa-miR-27b	CLIP-seq
MIRT2565343	hsa-miR-3134	CLIP-seq
MIRT2565344	hsa-miR-3591-3p	CLIP-seq
MIRT2565345	hsa-miR-3605-5p	CLIP-seq
MIRT2565346	hsa-miR-3673	CLIP-seq
MIRT2266065	hsa-miR-3688-3p	CLIP-seq
MIRT2035575	hsa-miR-412	CLIP-seq
MIRT2565347	hsa-miR-4261	CLIP-seq
MIRT2565348	hsa-miR-4480	CLIP-seq
MIRT2565349	hsa-miR-4701-3p	CLIP-seq
MIRT2565350	hsa-miR-4719	CLIP-seq
MIRT2565351	hsa-miR-4731-3p	CLIP-seq
MIRT2565352	hsa-miR-4760-5p	CLIP-seq
MIRT2565353	hsa-miR-4792	CLIP-seq
MIRT2565354	hsa-miR-4795-3p	CLIP-seq
MIRT2565355	hsa-miR-4801	CLIP-seq
MIRT2565356	hsa-miR-494	CLIP-seq
MIRT2565357	hsa-miR-513a-5p	CLIP-seq
MIRT2565358	hsa-miR-613	CLIP-seq
MIRT2565359	hsa-miR-626	CLIP-seq
MIRT2565360	hsa-miR-656	CLIP-seq
MIRT2565361	hsa-miR-887	CLIP-seq
MIRT2565333	hsa-miR-1	CLIP-seq
MIRT2565336	hsa-miR-141	CLIP-seq
MIRT2565338	hsa-miR-200a	CLIP-seq
MIRT2565339	hsa-miR-206	CLIP-seq
MIRT2565346	hsa-miR-3673	CLIP-seq
MIRT2565350	hsa-miR-4719	CLIP-seq
MIRT2565351	hsa-miR-4731-3p	CLIP-seq
MIRT2565354	hsa-miR-4795-3p	CLIP-seq
MIRT2565355	hsa-miR-4801	CLIP-seq
MIRT2565358	hsa-miR-613	CLIP-seq
MIRT2565360	hsa-miR-656	CLIP-seq

Show/Hide all (59)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0001750	Component	Photoreceptor outer segment	ISS
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0001917	Component	Photoreceptor inner segment	ISS
GO:0002092	Process	Positive regulation of receptor internalization	IDA	11526121
GO:0005515	Function	Protein binding	IPI	9647693, 10548487, 16316992, 16533813, 32296183
GO:0005634	Component	Nucleus	IDA	10760291
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	11526121
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005770	Component	Late endosome	IEA
GO:0005770	Component	Late endosome	ISS
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IEA
GO:0005814	Component	Centriole	ISS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA	10760291, 11526121
GO:0005886	Component	Plasma membrane	IEA
GO:0005911	Component	Cell-cell junction	IBA
GO:0005923	Component	Bicellular tight junction	IDA	10760291
GO:0005929	Component	Cilium	IEA
GO:0006897	Process	Endocytosis	IEA
GO:0007165	Process	Signal transduction	IBA
GO:0007399	Process	Nervous system development	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	ISS
GO:0010976	Process	Positive regulation of neuron projection development	ISS
GO:0014069	Component	Postsynaptic density	ISS
GO:0016020	Component	Membrane	IEA
GO:0019902	Function	Phosphatase binding	IPI	10760291
GO:0030159	Function	Signaling receptor complex adaptor activity	IBA
GO:0030159	Function	Signaling receptor complex adaptor activity	IDA	11526121
GO:0030336	Process	Negative regulation of cell migration	ISS
GO:0030425	Component	Dendrite	IBA
GO:0030425	Component	Dendrite	ISS
GO:0031697	Function	Beta-1 adrenergic receptor binding	IBA
GO:0031697	Function	Beta-1 adrenergic receptor binding	IPI	11526121
GO:0032926	Process	Negative regulation of activin receptor signaling pathway	ISS
GO:0032991	Component	Protein-containing complex	ISS
GO:0036057	Component	Slit diaphragm	ISS
GO:0038180	Process	Nerve growth factor signaling pathway	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043113	Process	Receptor clustering	IBA
GO:0043113	Process	Receptor clustering	ISS
GO:0045202	Component	Synapse	IEA
GO:0045202	Component	Synapse	ISS
GO:0046332	Function	SMAD binding	IBA
GO:0046332	Function	SMAD binding	ISS
GO:0048471	Component	Perinuclear region of cytoplasm	ISS
GO:0051898	Process	Negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	10760291
GO:0060071	Process	Wnt signaling pathway, planar cell polarity pathway	NAS	20534871
GO:0060395	Process	SMAD protein signal transduction	ISS
GO:0070699	Function	Type II activin receptor binding	IBA
GO:0070699	Function	Type II activin receptor binding	ISS
GO:0072015	Process	Podocyte development	ISS
GO:0072583	Process	Clathrin-dependent endocytosis	ISS
GO:0097546	Component	Ciliary base	ISS
GO:1990090	Process	Cellular response to nerve growth factor stimulus	ISS

MIM	HGNC	e!Ensembl
606382	18957	ENSG00000187391

Q86UL8

Protein name

Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 (Atrophin-1-interacting protein 1) (AIP-1) (Atrophin-1-interacting protein A) (Membrane-associated guanylate kinase inverted 2) (MAGI-2)

Protein function

Seems to act as a scaffold molecule at synaptic junctions by assembling neurotransmitter receptors and cell adhesion proteins (By similarity). Plays a role in nerve growth factor (NGF)-induced recruitment of RAPGEF2 to late endosomes and neurite

PDB

1UEP , 1UEQ , 1UEW , 1UJV , 1WFV

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00595	PDZ	17 → 98	PDZ domain	Domain
PF00625	Guanylate_kin	120 → 191	Guanylate kinase	Domain
PF16663	MAGI_u1	198 → 259		Disordered
PF00397	WW	304 → 333	WW domain	Domain
PF00595	PDZ	426 → 506	PDZ domain	Domain
PF00595	PDZ	605 → 679	PDZ domain	Domain
PF00595	PDZ	778 → 859	PDZ domain	Domain
PF00595	PDZ	920 → 1007	PDZ domain	Domain
PF00595	PDZ	1147 → 1226	PDZ domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Specifically expressed in brain. {ECO:0000269|PubMed:9647693}.

Sequence

MSKSLKKKSHWTSKVHESVIGRNPEGQLGFELKGGAENGQFPYLGEVKPGKVAYESGSKL
VSEELLLEVNETPVAGLTIRDVLAVIKHCKDPLRLKCVKQGGIVDKDLRHYLNLRFQKGS
VDHELQQIIRDNLYLRTVPCTTRPHKEGEVPGVDYIFITVEDFMELEKSGALLESGTYED
NYYGTPKPPAEPAPLLLNVTDQILPGATPSAEGKRKRNKSVSNMEKASIEPPEEEEEERP
VVNGNGVVVTPESSEHEDKSAGASGEMPSQPYPAPVYSQPEELKEQMDDTKPTKPEDNEE
PDPLPDNWEMAYTEKGEVYFIDHNTKTTSWLDPRLAKKAKPPEECKENELPYGWEKIDDP
IYGTYYVDHINRRTQFENPVLEAKRKLQQHNMPHTELGTKPLQAPGFREKPLFTRDASQL
KGTFLSTTLKKSNMGFGFTIIGGDEPDEFLQVKSVIPDGPAAQDGKMETGDVIVYINEVC
VLGHTHADVVKLFQSVPIGQSVNLVLCRGYPLPFDPEDPANSMVPPLAIMERPPPVMVNG
RHNYETYLEYISRTSQSVPDITDRPPHSLHSMPTDGQLDGTYPPPVHDDNVSMASSGATQ
AELMTLTIVKGAQGFGFTIADSPTGQRVKQILDIQGCPGLCEGDLIVEINQQNVQNLSHT
EVVDILKDCPIGSETSLIIHRGGFFSPWKTPKPIMDRWENQGSPQTSLSAPAIPQNLPFP
PALHRSSFPDSTEAFDPRKPDPYELYEKSRAIYESRQQVPPRTSFRMDSSGPDYKELDVH
LRRMESGFGFRILGGDEPGQPILIGAVIAMGSADRDGRLHPGDELVYVDGIPVAGKTHRY
VIDLMHHAARNGQVNLTVRRKVLCGGEPCPENGRSPGSVSTHHSSPRSDYATYTNSNHAA
PSSNASPPEGFASHSLQTSDVVIHRKENEGFGFVIISSLNRPESGSTITVPHKIGRIIDG
SPADRCAKLKVGDRILAVNGQSIINMPHADIVKLIKDAGLSVTLRIIPQEELNSPTSAPS
SEKQSPMAQQSPLAQQSPLAQPSPATPNSPIAQPAPPQPLQLQGHENSYRSEVKARQDVK
PDIRQPPFTDYRQPPLDYRQPPGGDYQQPPPLDYRQPPLLDYRQHSPDTRQYPLSDYRQP
QDFDYFTVDMEKGAKGFGFSIRGGREYKMDLYVLRLAEDGPAIRNGRMRVGDQIIEINGE
STRDMTHARAIELIKSGGRRVRLLLKRGTGQVPEYDEPAPWSSPAAAAPGLPEVGVSLDD
GLAPFSPSHPAPPSDPSHQISPGPTWDIKREHDVRKPKELSACGQKKQRLGEQRERSASP
QRAARPRLEEAPGGQGRPEAGRPASEARAPGLAAADAADAARAGGKEAPRAAAGSELCRR
EGPGAAPAFAGPGGGGSGALEAEGRAGARAGPRPGPRPPGGAPARKAAVAPGPWKVPGSD
KLPSVLKPGASAASR

Sequence length

1455

Interactions

View interactions

	KEGG
	Rap1 signaling pathway PI3K-Akt signaling pathway

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Nephrotic syndrome 15	Likely pathogenic; Pathogenic	rs2129210679, rs1135402911, rs1135402912, rs1135402913	RCV002244173 RCV000497254 RCV000497252 RCV000497253	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (44)

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.
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRONCHOPULMONARY DYSPLASIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANNABIS DEPENDENCE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, ADENOID CYSTIC	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ACUTE LYMPHOBLASTIC LEUKEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	ClinGen, Disgenet ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC STEROID-RESISTANT NEPHROTIC SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY STEROID-RESISTANT NEPHROTIC SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAGI2-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR AFFECTIVE DISORDER 2	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEMORY DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOYAMOYA DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME, TYPE 15	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Uncertain significance	ClinVar CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URETHRAL SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (124)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute pancreatitis	Pancreatitis	BEFREE	24386489		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	26980016, 29542165		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	23685749		★★★★★ ★☆☆☆☆ Found in Text Mining only
Age-Related Memory Disorders	Age-Related Memory Disorders	CTD_human_DG	25653350		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	19668339	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	27714968		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	CTD_human_DG	25653350		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anxiety States, Neurotic	Anxiety Disorder	CTD_human_DG	25653350		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	21700930, 25732743, 29731721, 30471213, 31619063		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	31924195	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	25732743, 29731721		★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	24985972, 26980016		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	22381734		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	22381734		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	26139244		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27019625, 31081100, 32143617, 32672418	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30883342	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32546442	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36359865, 36852700	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22046421		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	39519394	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	36139456	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	29185275		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	25732743		★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	17989107, 18720471		★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	GENOMICS_ENGLAND_DG	21143118		★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	24386489	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	28348580		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Kidney Diseases	Kidney Disease	BEFREE	30448842		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	25517131		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	22649501	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	18720471	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	32727450	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29114386		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32533587	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	18720471, 21515326		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	18720471	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	25792565		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	35299244	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dental Caries	Dental caries	Pubtator	15869869	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	35052345	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis Allergic Contact	Allergic contact dermatitis	Pubtator	31783056	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	23552671, 36528847	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	29221444		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	34087849	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	20096742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	29185275		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	29185275	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	18565486		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	Pubtator	18565486, 31056551	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic encephalopathy	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	27932480		★★★★★ ★☆☆☆☆ Found in Text Mining only
Genetic steroid-resistant nephrotic syndrome	Genetic Steroid-Resistant Nephrotic Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	31081100	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glomerulonephritis, Minimal Change	Glomerulonephritis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	28539383		★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	30535759		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	30535759		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoalbuminemia	Hypoalbuminemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	22649501		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	BEFREE	18565486, 20101691, 21880993, 25497044		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	18720471, 21515326, 28545409, 29114386		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	LHGDN	18720471		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	18720471, 24386489, 28545409	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GENOMICS_ENGLAND_DG	21143118		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	32143617	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	37102649	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	GENOMICS_ENGLAND_DG	21143118		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	30448842		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23754155		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	36852700, 37154150	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31539127, 36852700	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	BEFREE	22381734		★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	22381734		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	PSYGENET_DG	22381734		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	BEFREE	22381734		★★★★★ ★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	BEFREE	22381734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26139244		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	29185275		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22046421		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	29185275		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24985972, 26980016, 29542165		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23754155, 26980016, 29542165		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	26139244		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	34375487	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory Disorders	CTD_human_DG	25653350		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Moyamoya Disease	Moyamoya Disease	GWASCAT_DG	29273593		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Moyamoya disease 1	Moyamoya disease	GWASCAT_DG	29273593		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	33579893	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24985972, 26139244		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrosis congenital	Nephrotic syndrome	Pubtator	27932480	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	31010473		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
NEPHROTIC SYNDROME, TYPE 15	Nephrotic Syndrome	GENOMICS_ENGLAND_DG	25271328, 27932480, 29773874		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME, TYPE 15	Nephrotic Syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29922089		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ovarian neoplasm	Ovarian neoplasm	BEFREE	29185275		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	29185275	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32581010, 32681706	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	35043728	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	24985972, 26980016, 29542165		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21307934, 32953881	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	29542165		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	30110567		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	18186075, 22381734, 22649501, 26851141, 30184473		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizophrenia	Schizophrenia	PSYGENET_DG	22381734, 22649501, 25653350		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizophrenia	Schizophrenia	Pubtator	22649501, 30184473, 35052345	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizophrenia	Schizophrenia	CTD_human_DG	25653350		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764, 28991256		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Seizures	Seizures	Pubtator	32077592	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
SHORT STATURE, IDIOPATHIC, X-LINKED	SHORT STATURE, IDIOPATHIC, X-LINKED	BEFREE	21694734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	31199602	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	18565486, 21880993, 32077592	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	30464518		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	36852700	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Steroid resistant nephrotic syndrome of childhood	Steroid resistant nephrotic syndrome	BEFREE	30110567, 31010479		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33530176, 37457685	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	31734403		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	17989107, 18720471, 21515326		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	30170380, 31081100, 33231563	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	35126958	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	29731721		★★★★★ ★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	18565486, 20101691, 21880993, 25497044		★★★★★ ★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	GENOMICS_ENGLAND_DG	27932480		★★★★★ ★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams syndrome	Pubtator	32077592	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only

MAGI2 (membrane associated guanylate kinase, WW and PDZ domain containing 2)