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	3612
Gene name	Inositol monophosphatase 1
Gene symbol	IMPA1
Synonyms (NCBI Gene)	IMPIMPAMRT59
Chromosome	8
Chromosome location	8q21.13
Summary	This gene encodes an enzyme that dephosphorylates myo-inositol monophosphate to generate free myo-inositol, a precursor of phosphatidylinositol, and is therefore an important modulator of intracellular signal transduction via the production of the second

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1057519491	->GCCCA	Pathogenic	Frameshift variant, coding sequence variant, intron variant

222

Show/Hide all (222)

miRTarBase ID	miRNA	Experiments	Reference
MIRT006254	hsa-miR-34a-5p	Luciferase reporter assay	22301190
MIRT006254	hsa-miR-34a-5p	Luciferase reporter assay	22301190
MIRT006254	hsa-miR-34a-5p	Luciferase reporter assay	22301190
MIRT006254	hsa-miR-34a-5p	Luciferase reporter assay	22301190
MIRT006254	hsa-miR-34a-5p	Luciferase reporter assay	22301190
MIRT006254	hsa-miR-34a-5p	Luciferase reporter assay	22301190
MIRT021823	hsa-miR-132-3p	Microarray	17612493
MIRT024884	hsa-miR-215-5p	Microarray	19074876
MIRT026629	hsa-miR-192-5p	Microarray	19074876
MIRT050020	hsa-miR-27a-3p	CLASH	23622248
MIRT044020	hsa-miR-365a-3p	CLASH	23622248
MIRT517934	hsa-miR-4438	PAR-CLIP	23446348
MIRT124241	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT517933	hsa-miR-6889-3p	PAR-CLIP	23446348
MIRT517932	hsa-miR-548aj-5p	PAR-CLIP	23446348
MIRT517931	hsa-miR-548f-5p	PAR-CLIP	23446348
MIRT517930	hsa-miR-548g-5p	PAR-CLIP	23446348
MIRT517929	hsa-miR-548x-5p	PAR-CLIP	23446348
MIRT517928	hsa-miR-1468-3p	PAR-CLIP	23446348
MIRT517927	hsa-miR-4252	PAR-CLIP	23446348
MIRT517926	hsa-miR-5095	PAR-CLIP	23446348
MIRT517925	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT517924	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT517923	hsa-miR-548aw	PAR-CLIP	23446348
MIRT517934	hsa-miR-4438	PAR-CLIP	23446348
MIRT124241	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT517933	hsa-miR-6889-3p	PAR-CLIP	23446348
MIRT517932	hsa-miR-548aj-5p	PAR-CLIP	23446348
MIRT517931	hsa-miR-548f-5p	PAR-CLIP	23446348
MIRT517930	hsa-miR-548g-5p	PAR-CLIP	23446348
MIRT517929	hsa-miR-548x-5p	PAR-CLIP	23446348
MIRT517928	hsa-miR-1468-3p	PAR-CLIP	23446348
MIRT517927	hsa-miR-4252	PAR-CLIP	23446348
MIRT517926	hsa-miR-5095	PAR-CLIP	23446348
MIRT517925	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT517924	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT517923	hsa-miR-548aw	PAR-CLIP	23446348
MIRT1065730	hsa-miR-101	CLIP-seq
MIRT1065731	hsa-miR-1225-3p	CLIP-seq
MIRT1065732	hsa-miR-1233	CLIP-seq
MIRT1065733	hsa-miR-1245b-3p	CLIP-seq
MIRT1065734	hsa-miR-1283	CLIP-seq
MIRT1065735	hsa-miR-144	CLIP-seq
MIRT1065736	hsa-miR-1827	CLIP-seq
MIRT1065737	hsa-miR-2052	CLIP-seq
MIRT1065738	hsa-miR-24	CLIP-seq
MIRT1065739	hsa-miR-297	CLIP-seq
MIRT1065740	hsa-miR-298	CLIP-seq
MIRT1065741	hsa-miR-3120-5p	CLIP-seq
MIRT1065742	hsa-miR-3122	CLIP-seq
MIRT1065743	hsa-miR-3154	CLIP-seq
MIRT1065744	hsa-miR-3162-3p	CLIP-seq
MIRT1065745	hsa-miR-3200-3p	CLIP-seq
MIRT1065746	hsa-miR-34b	CLIP-seq
MIRT1065747	hsa-miR-3607-3p	CLIP-seq
MIRT1065748	hsa-miR-3614-5p	CLIP-seq
MIRT1065749	hsa-miR-361-5p	CLIP-seq
MIRT1065750	hsa-miR-3672	CLIP-seq
MIRT1065751	hsa-miR-3686	CLIP-seq
MIRT1065752	hsa-miR-3689a-3p	CLIP-seq
MIRT1065753	hsa-miR-3689c	CLIP-seq
MIRT1065754	hsa-miR-3713	CLIP-seq
MIRT1065755	hsa-miR-3913-5p	CLIP-seq
MIRT1065756	hsa-miR-3924	CLIP-seq
MIRT1065757	hsa-miR-3929	CLIP-seq
MIRT1065758	hsa-miR-4274	CLIP-seq
MIRT1065759	hsa-miR-4284	CLIP-seq
MIRT1065760	hsa-miR-4291	CLIP-seq
MIRT1065761	hsa-miR-4307	CLIP-seq
MIRT1065762	hsa-miR-4310	CLIP-seq
MIRT1065763	hsa-miR-4419b	CLIP-seq
MIRT1065764	hsa-miR-4478	CLIP-seq
MIRT1065765	hsa-miR-4484	CLIP-seq
MIRT1065766	hsa-miR-4519	CLIP-seq
MIRT1065767	hsa-miR-452	CLIP-seq
MIRT1065768	hsa-miR-4649-3p	CLIP-seq
MIRT1065769	hsa-miR-4668-3p	CLIP-seq
MIRT1065770	hsa-miR-4676-3p	CLIP-seq
MIRT1065771	hsa-miR-4684-5p	CLIP-seq
MIRT1065772	hsa-miR-4699-5p	CLIP-seq
MIRT1065773	hsa-miR-4728-3p	CLIP-seq
MIRT1065774	hsa-miR-4728-5p	CLIP-seq
MIRT1065775	hsa-miR-4778-5p	CLIP-seq
MIRT1065776	hsa-miR-4790-3p	CLIP-seq
MIRT1065777	hsa-miR-4793-5p	CLIP-seq
MIRT1065778	hsa-miR-483-3p	CLIP-seq
MIRT1065779	hsa-miR-501-5p	CLIP-seq
MIRT1065780	hsa-miR-548ae	CLIP-seq
MIRT1065781	hsa-miR-548aj	CLIP-seq
MIRT1065782	hsa-miR-548am	CLIP-seq
MIRT1065783	hsa-miR-548an	CLIP-seq
MIRT1065784	hsa-miR-548k	CLIP-seq
MIRT1065785	hsa-miR-548n	CLIP-seq
MIRT1065786	hsa-miR-548p	CLIP-seq
MIRT1065787	hsa-miR-548x	CLIP-seq
MIRT1065788	hsa-miR-567	CLIP-seq
MIRT1065789	hsa-miR-570	CLIP-seq
MIRT1065790	hsa-miR-583	CLIP-seq
MIRT1065791	hsa-miR-593	CLIP-seq
MIRT1065792	hsa-miR-944	CLIP-seq
MIRT2015627	hsa-miR-2114	CLIP-seq
MIRT2015628	hsa-miR-3664-3p	CLIP-seq
MIRT2015629	hsa-miR-4433	CLIP-seq
MIRT2015630	hsa-miR-4459	CLIP-seq
MIRT2015631	hsa-miR-4768-3p	CLIP-seq
MIRT2015632	hsa-miR-510	CLIP-seq
MIRT2015633	hsa-miR-512-5p	CLIP-seq
MIRT1065731	hsa-miR-1225-3p	CLIP-seq
MIRT1065732	hsa-miR-1233	CLIP-seq
MIRT2247980	hsa-miR-140-3p	CLIP-seq
MIRT1065736	hsa-miR-1827	CLIP-seq
MIRT2247981	hsa-miR-203	CLIP-seq
MIRT2247982	hsa-miR-3130-3p	CLIP-seq
MIRT2247983	hsa-miR-3148	CLIP-seq
MIRT1065743	hsa-miR-3154	CLIP-seq
MIRT2247984	hsa-miR-3200-5p	CLIP-seq
MIRT1065748	hsa-miR-3614-5p	CLIP-seq
MIRT2247985	hsa-miR-3622b-5p	CLIP-seq
MIRT2247986	hsa-miR-3688-3p	CLIP-seq
MIRT1065757	hsa-miR-3929	CLIP-seq
MIRT2247987	hsa-miR-4282	CLIP-seq
MIRT1065763	hsa-miR-4419b	CLIP-seq
MIRT2015630	hsa-miR-4459	CLIP-seq
MIRT1065764	hsa-miR-4478	CLIP-seq
MIRT2247988	hsa-miR-4502	CLIP-seq
MIRT2247989	hsa-miR-4639-5p	CLIP-seq
MIRT1065768	hsa-miR-4649-3p	CLIP-seq
MIRT2247990	hsa-miR-4666-5p	CLIP-seq
MIRT2247991	hsa-miR-4722-5p	CLIP-seq
MIRT2247992	hsa-miR-485-5p	CLIP-seq
MIRT2247993	hsa-miR-518a-5p	CLIP-seq
MIRT2247994	hsa-miR-527	CLIP-seq
MIRT2247995	hsa-miR-548c-3p	CLIP-seq
MIRT1065789	hsa-miR-570	CLIP-seq
MIRT2247996	hsa-miR-610	CLIP-seq
MIRT2247997	hsa-miR-767-5p	CLIP-seq
MIRT2247998	hsa-miR-940	CLIP-seq
MIRT1065731	hsa-miR-1225-3p	CLIP-seq
MIRT1065732	hsa-miR-1233	CLIP-seq
MIRT1065757	hsa-miR-3929	CLIP-seq
MIRT1065763	hsa-miR-4419b	CLIP-seq
MIRT1065764	hsa-miR-4478	CLIP-seq
MIRT1065776	hsa-miR-4790-3p	CLIP-seq
MIRT1065743	hsa-miR-3154	CLIP-seq
MIRT1065747	hsa-miR-3607-3p	CLIP-seq
MIRT1065751	hsa-miR-3686	CLIP-seq
MIRT1065757	hsa-miR-3929	CLIP-seq
MIRT1065763	hsa-miR-4419b	CLIP-seq
MIRT1065764	hsa-miR-4478	CLIP-seq
MIRT1065768	hsa-miR-4649-3p	CLIP-seq
MIRT2551720	hsa-miR-1276	CLIP-seq
MIRT2551721	hsa-miR-1285	CLIP-seq
MIRT2247981	hsa-miR-203	CLIP-seq
MIRT1065737	hsa-miR-2052	CLIP-seq
MIRT2551722	hsa-miR-28-3p	CLIP-seq
MIRT1065740	hsa-miR-298	CLIP-seq
MIRT2551723	hsa-miR-3140-5p	CLIP-seq
MIRT2247983	hsa-miR-3148	CLIP-seq
MIRT2551724	hsa-miR-3158-5p	CLIP-seq
MIRT2551725	hsa-miR-3187-5p	CLIP-seq
MIRT2247984	hsa-miR-3200-5p	CLIP-seq
MIRT2247985	hsa-miR-3622b-5p	CLIP-seq
MIRT2551726	hsa-miR-365	CLIP-seq
MIRT2551727	hsa-miR-3941	CLIP-seq
MIRT2551728	hsa-miR-3978	CLIP-seq
MIRT2247987	hsa-miR-4282	CLIP-seq
MIRT2551729	hsa-miR-4292	CLIP-seq
MIRT1065761	hsa-miR-4307	CLIP-seq
MIRT2551730	hsa-miR-4311	CLIP-seq
MIRT2551731	hsa-miR-4418	CLIP-seq
MIRT2551732	hsa-miR-4420	CLIP-seq
MIRT2551733	hsa-miR-4422	CLIP-seq
MIRT2247988	hsa-miR-4502	CLIP-seq
MIRT1065767	hsa-miR-452	CLIP-seq
MIRT2551734	hsa-miR-466	CLIP-seq
MIRT2551735	hsa-miR-4672	CLIP-seq
MIRT1065770	hsa-miR-4676-3p	CLIP-seq
MIRT2551736	hsa-miR-4725-5p	CLIP-seq
MIRT2551737	hsa-miR-4731-3p	CLIP-seq
MIRT2551738	hsa-miR-4738-3p	CLIP-seq
MIRT2551739	hsa-miR-4744	CLIP-seq
MIRT2551740	hsa-miR-4801	CLIP-seq
MIRT2551741	hsa-miR-504	CLIP-seq
MIRT2551742	hsa-miR-509-3-5p	CLIP-seq
MIRT2551743	hsa-miR-509-5p	CLIP-seq
MIRT2551744	hsa-miR-539	CLIP-seq
MIRT2247995	hsa-miR-548c-3p	CLIP-seq
MIRT2551745	hsa-miR-577	CLIP-seq
MIRT1065790	hsa-miR-583	CLIP-seq
MIRT2551746	hsa-miR-612	CLIP-seq
MIRT2551747	hsa-miR-630	CLIP-seq
MIRT2247981	hsa-miR-203	CLIP-seq
MIRT1065737	hsa-miR-2052	CLIP-seq
MIRT2551722	hsa-miR-28-3p	CLIP-seq
MIRT1065740	hsa-miR-298	CLIP-seq
MIRT2247983	hsa-miR-3148	CLIP-seq
MIRT1065743	hsa-miR-3154	CLIP-seq
MIRT2551724	hsa-miR-3158-5p	CLIP-seq
MIRT2247984	hsa-miR-3200-5p	CLIP-seq
MIRT2247985	hsa-miR-3622b-5p	CLIP-seq
MIRT2551726	hsa-miR-365	CLIP-seq
MIRT1065757	hsa-miR-3929	CLIP-seq
MIRT2551727	hsa-miR-3941	CLIP-seq
MIRT2551728	hsa-miR-3978	CLIP-seq
MIRT2247987	hsa-miR-4282	CLIP-seq
MIRT2551731	hsa-miR-4418	CLIP-seq
MIRT1065763	hsa-miR-4419b	CLIP-seq
MIRT2551732	hsa-miR-4420	CLIP-seq
MIRT2551733	hsa-miR-4422	CLIP-seq
MIRT1065764	hsa-miR-4478	CLIP-seq
MIRT2247988	hsa-miR-4502	CLIP-seq
MIRT1065767	hsa-miR-452	CLIP-seq
MIRT1065768	hsa-miR-4649-3p	CLIP-seq
MIRT2551734	hsa-miR-466	CLIP-seq
MIRT2551735	hsa-miR-4672	CLIP-seq
MIRT1065770	hsa-miR-4676-3p	CLIP-seq
MIRT2551737	hsa-miR-4731-3p	CLIP-seq
MIRT2551740	hsa-miR-4801	CLIP-seq
MIRT2551742	hsa-miR-509-3-5p	CLIP-seq
MIRT2551743	hsa-miR-509-5p	CLIP-seq
MIRT2551745	hsa-miR-577	CLIP-seq
MIRT2551747	hsa-miR-630	CLIP-seq

Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000287	Function	Magnesium ion binding	IDA	9462881, 23027737
GO:0004346	Function	Glucose-6-phosphatase activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183, 32814053, 35271311
GO:0005737	Component	Cytoplasm	IDA	1377913, 17068342
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006020	Process	Inositol metabolic process	IBA
GO:0006021	Process	Inositol biosynthetic process	IEA
GO:0006661	Process	Phosphatidylinositol biosynthetic process	IMP	1377913
GO:0006796	Process	Phosphate-containing compound metabolic process	IMP	1377913
GO:0007165	Process	Signal transduction	IBA
GO:0007165	Process	Signal transduction	IMP	1377913
GO:0008877	Function	Glucose-1-phosphatase activity	IEA
GO:0008934	Function	Inositol monophosphate 1-phosphatase activity	IBA
GO:0008934	Function	Inositol monophosphate 1-phosphatase activity	IDA	17068342
GO:0008934	Function	Inositol monophosphate 1-phosphatase activity	IEA
GO:0008934	Function	Inositol monophosphate 1-phosphatase activity	IMP	1377913
GO:0016787	Function	Hydrolase activity	IEA
GO:0030145	Function	Manganese ion binding	IDA	9462881
GO:0031403	Function	Lithium ion binding	IDA	9462881
GO:0042802	Function	Identical protein binding	IPI	16189514, 19447967, 21516116, 25416956, 32296183
GO:0042803	Function	Protein homodimerization activity	IDA	17068342
GO:0046854	Process	Phosphatidylinositol phosphate biosynthetic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0047954	Function	Glycerol-2-phosphatase activity	IEA
GO:0052832	Function	Inositol monophosphate 3-phosphatase activity	IEA
GO:0052833	Function	Inositol monophosphate 4-phosphatase activity	IEA
GO:0052834	Function	Inositol monophosphate phosphatase activity	IDA	9462881
GO:0052834	Function	Inositol monophosphate phosphatase activity	IEA
GO:0103026	Function	Fructose-1-phosphatase activity	IEA

MIM	HGNC	e!Ensembl
602064	6050	ENSG00000133731

P29218

Protein name

Inositol monophosphatase 1 (IMP 1) (IMPase 1) (EC 3.1.3.25) (D-galactose 1-phosphate phosphatase) (EC 3.1.3.94) (Inositol-1(or 4)-monophosphatase 1) (Lithium-sensitive myo-inositol monophosphatase A1)

Protein function

Phosphatase involved in the dephosphorylation of myo-inositol monophosphates to generate myo-inositol (PubMed:17068342, PubMed:8718889, PubMed:9462881). Is also able to dephosphorylate scyllo-inositol-phosphate, myo-inositol 1,4-diphosphate, scy

PDB

1AWB , 1IMA , 1IMB , 1IMC , 1IMD , 1IME , 1IMF , 2HHM , 4AS4 , 6GIU , 6GJ0 , 6ZK0 , 7VCE

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00459	Inositol_P	5 → 270	Inositol monophosphatase family	Family

Sequence

MADPWQECMDYAVTLARQAGEVVCEAIKNEMNVMLKSSPVDLVTATDQKVEKMLISSIKE
KYPSHSFIGEESVAAGEKSILTDNPTWIIDPIDGTTNFVHRFPFVAVSIGFAVNKKIEFG
VVYSCVEGKMYTARKGKGAFCNGQKLQVSQQEDITKSLLVTELGSSRTPETVRMVLSNME
KLFCIPVHGIRSVGTAAVNMCLVATGGADAYYEMGIHCWDVAGAGIIVTEAGGVLMDVTG
GPFDLMSRRVIAANNRILAERIAKEIQVIPLQRDDED

Sequence length

277

Interactions

View interactions

	KEGG		Reactome
	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system		Synthesis of IP2, IP, and Ins in the cytosol

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
Intellectual disability, autosomal recessive 59	Likely pathogenic; Pathogenic	rs1308325707, rs1057519491	RCV002226865 RCV000416531	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (10)

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.
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMPA1-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 59	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (50)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anemia, Sickle Cell	Anemia	BEFREE	30216759		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit and Disruptive Behavior Disorders	Attention deficit hyperactivity disorder	Pubtator	32839513	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	14699425, 26416544, 9322233		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	20153384, 9322233		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	1705812, 9042310		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	30616629	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	17255263		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	21618519		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	28978128		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	17460611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	21252116		★★★★★ ★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	CTD_human_DG	17460611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	20601097		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conjunctivitis	Conjunctivitis	BEFREE	28408304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystitis	Cystitis	BEFREE	28408304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	33165596	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	19429674		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	17460611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CTD_human_DG	17460611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	20484439, 27818246		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type VII	Glycogen Storage Disease	BEFREE	16670071		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	31125398		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30604625		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	30604625		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	30616629, 32839513	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	17460611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	27897064, 30075285, 31199036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	17255263		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	17546046, 21618519		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17255263, 23812426, 28699652		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	21252116, 30453893		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	29771420		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 59	Mental retardation	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	30075285, 31199036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Monoclonal B-Cell Lymphocytosis	B-Cell Lymphocytosis	BEFREE	26206691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	15373744		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	1705812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17255263, 17546046, 20484439		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	28207535	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	21618519		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paranoia	Paranoia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Personality Disorders	Personality Disorders	BEFREE	28826267		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal carnitine transport defect	Renal Carnitine Transport Defect	BEFREE	30216759		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	18600550		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	26416544, 30616629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Single Seizure	Seizure	CTD_human_DG	17460611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	17460611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	35796646	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Visual seizure	Seizure	CTD_human_DG	17460611		★★★★★ ★☆☆☆☆ Found in Text Mining only

IMPA1 (inositol monophosphatase 1)