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	3614
Gene name	Inosine monophosphate dehydrogenase 1
Gene symbol	IMPDH1
Synonyms (NCBI Gene)	IMPDIMPD1IMPDH-ILCA11RP10sWSS2608
Chromosome	7
Chromosome location	7q32.1
Summary	The protein encoded by this gene acts as a homotetramer to regulate cell growth. The encoded protein is an enzyme that catalyzes the synthesis of xanthine monophosphate (XMP) from inosine-5`-monophosphate (IMP). This is the rate-limiting step in the de no

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SNP ID	Visualize variation	Clinical significance	Consequence
rs121912550	C>T	Pathogenic	Missense variant, coding sequence variant
rs121912551	C>T	Pathogenic	Missense variant, coding sequence variant
rs121912552	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs121912553	G>A	Benign, pathogenic	Missense variant, intron variant, coding sequence variant
rs121912554	A>C,G	Pathogenic	Missense variant, synonymous variant, coding sequence variant
rs138502867	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs148875137	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs756851981	C>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs758909916	G>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs886037911	C>G	Pathogenic	Missense variant, coding sequence variant
rs1057518949	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1562998089	C>A,G	Likely-pathogenic	Splice donor variant
rs1584728088	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1584728115	A>G	Likely-pathogenic	Missense variant, coding sequence variant

248

Show/Hide all (248)

miRTarBase ID	miRNA	Experiments	Reference
MIRT003737	hsa-miR-29a-3p	Luciferase reporter assay	17724173
MIRT024021	hsa-miR-1-3p	Proteomics	18668040
MIRT025513	hsa-miR-34a-5p	Proteomics	21566225
MIRT025513	hsa-miR-34a-5p	Proteomics	21566225
MIRT027238	hsa-miR-29b-3p	Reporter assay	17724173
MIRT027855	hsa-miR-98-5p	Microarray	19088304
MIRT031290	hsa-miR-19b-3p	Sequencing	20371350
MIRT032495	hsa-let-7b-5p	Proteomics	18668040
MIRT049993	hsa-miR-28-5p	CLASH	23622248
MIRT027238	hsa-miR-29b-3p	CLASH	23622248
MIRT040148	hsa-miR-615-3p	CLASH	23622248
MIRT036018	hsa-miR-1301-3p	CLASH	23622248
MIRT053789	hsa-miR-19a-3p	Luciferase reporter assayqRT-PCRWestern blot	22952885
MIRT053789	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT031290	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT1065989	hsa-miR-100	CLIP-seq
MIRT1065990	hsa-miR-1234	CLIP-seq
MIRT1065991	hsa-miR-1273e	CLIP-seq
MIRT1065992	hsa-miR-1286	CLIP-seq
MIRT1065993	hsa-miR-130a	CLIP-seq
MIRT1065994	hsa-miR-130b	CLIP-seq
MIRT1065995	hsa-miR-1915	CLIP-seq
MIRT1065996	hsa-miR-19a	CLIP-seq
MIRT1065997	hsa-miR-19b	CLIP-seq
MIRT1065998	hsa-miR-301a	CLIP-seq
MIRT1065999	hsa-miR-301b	CLIP-seq
MIRT1066000	hsa-miR-3064-5p	CLIP-seq
MIRT1066001	hsa-miR-3138	CLIP-seq
MIRT1066002	hsa-miR-3150b-3p	CLIP-seq
MIRT1066003	hsa-miR-3652	CLIP-seq
MIRT1066004	hsa-miR-3666	CLIP-seq
MIRT1066005	hsa-miR-3691-3p	CLIP-seq
MIRT1066006	hsa-miR-374c	CLIP-seq
MIRT1066007	hsa-miR-378g	CLIP-seq
MIRT1066008	hsa-miR-4283	CLIP-seq
MIRT1066009	hsa-miR-4295	CLIP-seq
MIRT1066010	hsa-miR-4324	CLIP-seq
MIRT1066011	hsa-miR-4430	CLIP-seq
MIRT1066012	hsa-miR-4436b-3p	CLIP-seq
MIRT1066013	hsa-miR-4437	CLIP-seq
MIRT1066014	hsa-miR-4505	CLIP-seq
MIRT1066015	hsa-miR-454	CLIP-seq
MIRT1066016	hsa-miR-4671-3p	CLIP-seq
MIRT1066017	hsa-miR-4674	CLIP-seq
MIRT1066018	hsa-miR-4679	CLIP-seq
MIRT1066019	hsa-miR-4685-5p	CLIP-seq
MIRT1066020	hsa-miR-4689	CLIP-seq
MIRT1066021	hsa-miR-4726-3p	CLIP-seq
MIRT1066022	hsa-miR-4731-3p	CLIP-seq
MIRT1066023	hsa-miR-4762-5p	CLIP-seq
MIRT1066024	hsa-miR-4784	CLIP-seq
MIRT1066025	hsa-miR-4800-5p	CLIP-seq
MIRT1066026	hsa-miR-4801	CLIP-seq
MIRT1066027	hsa-miR-544b	CLIP-seq
MIRT1066028	hsa-miR-655	CLIP-seq
MIRT1066029	hsa-miR-939	CLIP-seq
MIRT1066030	hsa-miR-99a	CLIP-seq
MIRT1066031	hsa-miR-99b	CLIP-seq
MIRT2015719	hsa-miR-1207-5p	CLIP-seq
MIRT2015720	hsa-miR-1321	CLIP-seq
MIRT2015721	hsa-miR-1827	CLIP-seq
MIRT1065995	hsa-miR-1915	CLIP-seq
MIRT2015722	hsa-miR-3139	CLIP-seq
MIRT2015723	hsa-miR-3144-5p	CLIP-seq
MIRT1066002	hsa-miR-3150b-3p	CLIP-seq
MIRT2015724	hsa-miR-3191	CLIP-seq
MIRT2015725	hsa-miR-3622a-3p	CLIP-seq
MIRT2015726	hsa-miR-3622b-3p	CLIP-seq
MIRT2015727	hsa-miR-3918	CLIP-seq
MIRT2015728	hsa-miR-4640-5p	CLIP-seq
MIRT2015729	hsa-miR-4652-5p	CLIP-seq
MIRT2015730	hsa-miR-4667-5p	CLIP-seq
MIRT2015731	hsa-miR-4700-5p	CLIP-seq
MIRT2015732	hsa-miR-4710	CLIP-seq
MIRT2015733	hsa-miR-4726-5p	CLIP-seq
MIRT2015734	hsa-miR-4739	CLIP-seq
MIRT2015735	hsa-miR-4756-5p	CLIP-seq
MIRT1066023	hsa-miR-4762-5p	CLIP-seq
MIRT2015736	hsa-miR-4763-3p	CLIP-seq
MIRT2015737	hsa-miR-4768-3p	CLIP-seq
MIRT1066024	hsa-miR-4784	CLIP-seq
MIRT2015738	hsa-miR-4790-3p	CLIP-seq
MIRT2015739	hsa-miR-4792	CLIP-seq
MIRT2015740	hsa-miR-486-3p	CLIP-seq
MIRT2015741	hsa-miR-665	CLIP-seq
MIRT2015742	hsa-miR-708	CLIP-seq
MIRT2015743	hsa-miR-873	CLIP-seq
MIRT2015744	hsa-miR-940	CLIP-seq
MIRT2248157	hsa-miR-1184	CLIP-seq
MIRT2015719	hsa-miR-1207-5p	CLIP-seq
MIRT2015720	hsa-miR-1321	CLIP-seq
MIRT2015722	hsa-miR-3139	CLIP-seq
MIRT1066002	hsa-miR-3150b-3p	CLIP-seq
MIRT2248158	hsa-miR-3202	CLIP-seq
MIRT2248159	hsa-miR-4459	CLIP-seq
MIRT2015734	hsa-miR-4739	CLIP-seq
MIRT2248160	hsa-miR-4747-5p	CLIP-seq
MIRT2015735	hsa-miR-4756-5p	CLIP-seq
MIRT2015736	hsa-miR-4763-3p	CLIP-seq
MIRT2015737	hsa-miR-4768-3p	CLIP-seq
MIRT1066024	hsa-miR-4784	CLIP-seq
MIRT2248161	hsa-miR-4786-3p	CLIP-seq
MIRT2015740	hsa-miR-486-3p	CLIP-seq
MIRT1066027	hsa-miR-544b	CLIP-seq
MIRT2015741	hsa-miR-665	CLIP-seq
MIRT2015742	hsa-miR-708	CLIP-seq
MIRT2015744	hsa-miR-940	CLIP-seq
MIRT1065989	hsa-miR-100	CLIP-seq
MIRT2015719	hsa-miR-1207-5p	CLIP-seq
MIRT1065993	hsa-miR-130a	CLIP-seq
MIRT1065994	hsa-miR-130b	CLIP-seq
MIRT2015720	hsa-miR-1321	CLIP-seq
MIRT2015721	hsa-miR-1827	CLIP-seq
MIRT1065996	hsa-miR-19a	CLIP-seq
MIRT1065997	hsa-miR-19b	CLIP-seq
MIRT2248162	hsa-miR-29a	CLIP-seq
MIRT2248163	hsa-miR-29b	CLIP-seq
MIRT2248164	hsa-miR-29c	CLIP-seq
MIRT1065998	hsa-miR-301a	CLIP-seq
MIRT1065999	hsa-miR-301b	CLIP-seq
MIRT2248165	hsa-miR-3135b	CLIP-seq
MIRT1066001	hsa-miR-3138	CLIP-seq
MIRT2015722	hsa-miR-3139	CLIP-seq
MIRT2248166	hsa-miR-3619-3p	CLIP-seq
MIRT2248167	hsa-miR-3663-3p	CLIP-seq
MIRT1066004	hsa-miR-3666	CLIP-seq
MIRT1066005	hsa-miR-3691-3p	CLIP-seq
MIRT1066006	hsa-miR-374c	CLIP-seq
MIRT2015727	hsa-miR-3918	CLIP-seq
MIRT2248168	hsa-miR-3978	CLIP-seq
MIRT1066009	hsa-miR-4295	CLIP-seq
MIRT2248169	hsa-miR-4434	CLIP-seq
MIRT2248170	hsa-miR-4487	CLIP-seq
MIRT2248171	hsa-miR-4488	CLIP-seq
MIRT2248172	hsa-miR-4516	CLIP-seq
MIRT2248173	hsa-miR-4531	CLIP-seq
MIRT1066015	hsa-miR-454	CLIP-seq
MIRT2015728	hsa-miR-4640-5p	CLIP-seq
MIRT1066016	hsa-miR-4671-3p	CLIP-seq
MIRT2248174	hsa-miR-4697-5p	CLIP-seq
MIRT2015733	hsa-miR-4726-5p	CLIP-seq
MIRT1066022	hsa-miR-4731-3p	CLIP-seq
MIRT2248175	hsa-miR-4733-5p	CLIP-seq
MIRT2015734	hsa-miR-4739	CLIP-seq
MIRT2015735	hsa-miR-4756-5p	CLIP-seq
MIRT1066023	hsa-miR-4762-5p	CLIP-seq
MIRT2015736	hsa-miR-4763-3p	CLIP-seq
MIRT2015737	hsa-miR-4768-3p	CLIP-seq
MIRT2248176	hsa-miR-4776-5p	CLIP-seq
MIRT1066025	hsa-miR-4800-5p	CLIP-seq
MIRT1066026	hsa-miR-4801	CLIP-seq
MIRT2248177	hsa-miR-518a-5p	CLIP-seq
MIRT2248178	hsa-miR-527	CLIP-seq
MIRT2248179	hsa-miR-589	CLIP-seq
MIRT2248180	hsa-miR-595	CLIP-seq
MIRT2248181	hsa-miR-648	CLIP-seq
MIRT1066028	hsa-miR-655	CLIP-seq
MIRT2015741	hsa-miR-665	CLIP-seq
MIRT2015742	hsa-miR-708	CLIP-seq
MIRT2248182	hsa-miR-767-5p	CLIP-seq
MIRT2248183	hsa-miR-935	CLIP-seq
MIRT2015744	hsa-miR-940	CLIP-seq
MIRT1066030	hsa-miR-99a	CLIP-seq
MIRT1066031	hsa-miR-99b	CLIP-seq
MIRT2248159	hsa-miR-4459	CLIP-seq
MIRT2015740	hsa-miR-486-3p	CLIP-seq
MIRT2015719	hsa-miR-1207-5p	CLIP-seq
MIRT1066002	hsa-miR-3150b-3p	CLIP-seq
MIRT2015736	hsa-miR-4763-3p	CLIP-seq
MIRT2015737	hsa-miR-4768-3p	CLIP-seq
MIRT1066024	hsa-miR-4784	CLIP-seq
MIRT2015744	hsa-miR-940	CLIP-seq
MIRT1066002	hsa-miR-3150b-3p	CLIP-seq
MIRT1066024	hsa-miR-4784	CLIP-seq
MIRT2451813	hsa-miR-3184	CLIP-seq
MIRT2451814	hsa-miR-423-5p	CLIP-seq
MIRT2248169	hsa-miR-4434	CLIP-seq
MIRT2248159	hsa-miR-4459	CLIP-seq
MIRT2248172	hsa-miR-4516	CLIP-seq
MIRT2451815	hsa-miR-4700-3p	CLIP-seq
MIRT2015737	hsa-miR-4768-3p	CLIP-seq
MIRT2451816	hsa-miR-4779	CLIP-seq
MIRT2248161	hsa-miR-4786-3p	CLIP-seq
MIRT2015741	hsa-miR-665	CLIP-seq
MIRT2248157	hsa-miR-1184	CLIP-seq
MIRT2551878	hsa-miR-1205	CLIP-seq
MIRT1065990	hsa-miR-1234	CLIP-seq
MIRT1065992	hsa-miR-1286	CLIP-seq
MIRT2551879	hsa-miR-1909	CLIP-seq
MIRT1065995	hsa-miR-1915	CLIP-seq
MIRT1066002	hsa-miR-3150b-3p	CLIP-seq
MIRT2551880	hsa-miR-3158-5p	CLIP-seq
MIRT2551881	hsa-miR-3179	CLIP-seq
MIRT2551882	hsa-miR-3183	CLIP-seq
MIRT2451813	hsa-miR-3184	CLIP-seq
MIRT2248158	hsa-miR-3202	CLIP-seq
MIRT2551883	hsa-miR-3664-3p	CLIP-seq
MIRT2015727	hsa-miR-3918	CLIP-seq
MIRT2551884	hsa-miR-3937	CLIP-seq
MIRT2451814	hsa-miR-423-5p	CLIP-seq
MIRT2551885	hsa-miR-4271	CLIP-seq
MIRT2551886	hsa-miR-4274	CLIP-seq
MIRT2551887	hsa-miR-4435	CLIP-seq
MIRT2551888	hsa-miR-4436a	CLIP-seq
MIRT1066012	hsa-miR-4436b-3p	CLIP-seq
MIRT2551889	hsa-miR-4514	CLIP-seq
MIRT2551890	hsa-miR-4522	CLIP-seq
MIRT2551891	hsa-miR-4667-3p	CLIP-seq
MIRT1066019	hsa-miR-4685-5p	CLIP-seq
MIRT2551892	hsa-miR-4688	CLIP-seq
MIRT1066020	hsa-miR-4689	CLIP-seq
MIRT2551893	hsa-miR-4692	CLIP-seq
MIRT2551894	hsa-miR-4723-3p	CLIP-seq
MIRT2551895	hsa-miR-4725-3p	CLIP-seq
MIRT2248160	hsa-miR-4747-5p	CLIP-seq
MIRT1066024	hsa-miR-4784	CLIP-seq
MIRT2015740	hsa-miR-486-3p	CLIP-seq
MIRT1066027	hsa-miR-544b	CLIP-seq
MIRT2551896	hsa-miR-660	CLIP-seq
MIRT2551897	hsa-miR-711	CLIP-seq
MIRT1066029	hsa-miR-939	CLIP-seq
MIRT2015744	hsa-miR-940	CLIP-seq
MIRT2248157	hsa-miR-1184	CLIP-seq
MIRT2551878	hsa-miR-1205	CLIP-seq
MIRT1065990	hsa-miR-1234	CLIP-seq
MIRT1065992	hsa-miR-1286	CLIP-seq
MIRT2551879	hsa-miR-1909	CLIP-seq
MIRT1066002	hsa-miR-3150b-3p	CLIP-seq
MIRT2551880	hsa-miR-3158-5p	CLIP-seq
MIRT2451813	hsa-miR-3184	CLIP-seq
MIRT2551884	hsa-miR-3937	CLIP-seq
MIRT2451814	hsa-miR-423-5p	CLIP-seq
MIRT2551886	hsa-miR-4274	CLIP-seq
MIRT2551887	hsa-miR-4435	CLIP-seq
MIRT1066012	hsa-miR-4436b-3p	CLIP-seq
MIRT2551889	hsa-miR-4514	CLIP-seq
MIRT2551890	hsa-miR-4522	CLIP-seq
MIRT1066019	hsa-miR-4685-5p	CLIP-seq
MIRT2551892	hsa-miR-4688	CLIP-seq
MIRT1066020	hsa-miR-4689	CLIP-seq
MIRT2551893	hsa-miR-4692	CLIP-seq
MIRT1066024	hsa-miR-4784	CLIP-seq
MIRT2015740	hsa-miR-486-3p	CLIP-seq
MIRT1066027	hsa-miR-544b	CLIP-seq
MIRT2551896	hsa-miR-660	CLIP-seq
MIRT2551897	hsa-miR-711	CLIP-seq
MIRT1066029	hsa-miR-939	CLIP-seq
MIRT2015744	hsa-miR-940	CLIP-seq

Show/Hide all (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003676	Function	Nucleic acid binding	IDA	14766016
GO:0003677	Function	DNA binding	IDA	14766016
GO:0003677	Function	DNA binding	IEA
GO:0003723	Function	RNA binding	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0003938	Function	IMP dehydrogenase activity	IBA
GO:0003938	Function	IMP dehydrogenase activity	IEA
GO:0003938	Function	IMP dehydrogenase activity	TAS	1969416
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	TAS
GO:0005634	Component	Nucleus	IDA	14766016
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	14766016
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006164	Process	Purine nucleotide biosynthetic process	IEA
GO:0006164	Process	Purine nucleotide biosynthetic process	IEA
GO:0006177	Process	GMP biosynthetic process	IEA
GO:0006183	Process	GTP biosynthetic process	IBA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0034774	Component	Secretory granule lumen	TAS
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0046651	Process	Lymphocyte proliferation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0097294	Process	'de novo' XMP biosynthetic process	IEA
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

MIM	HGNC	e!Ensembl
146690	6052	ENSG00000106348

P20839

Protein name

Inosine-5'-monophosphate dehydrogenase 1 (IMP dehydrogenase 1) (IMPD 1) (IMPDH 1) (EC 1.1.1.205) (IMPDH-I)

Protein function

Catalyzes the conversion of inosine 5'-phosphate (IMP) to xanthosine 5'-phosphate (XMP), the first committed and rate-limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell

PDB

1JCN , 7RER , 7RES , 7RFE , 7RFF , 7RFG , 7RFH , 7RFI , 7RGD , 7RGI , 7RGL , 7RGM , 7RGQ , 8U7M , 8U7Q , 8U7V , 8U8O , 8U8Y

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00478	IMPDH	29 → 504	IMP dehydrogenase / GMP reductase domain	Domain
PF00571	CBS	107 → 166	CBS domain	Domain
PF00571	CBS	175 → 232	CBS domain	Domain

Tissue specificity

TISSUE SPECIFICITY: IMP type I is the main species in normal leukocytes and type II predominates over type I in the tumor.

Sequence

MADYLISGGTGYVPEDGLTAQQLFASADGLTYNDFLILPGFIDFIADEVDLTSALTRKIT
LKTPLISSPMDTVTEADMAIAMALMGGIGFIHHNCTPEFQANEVRKVKKFEQGFITDPVV
LSPSHTVGDVLEAKMRHGFSGIPITETGTMGSKLVGIVTSRDIDFLAEKDHTTLLSEVMT
PRIELVVAPAGVTLKEANEILQRSKKGKLPIVNDCDELVAIIARTDLKKNRDYPLASKDS
QKQLLCGAAVGTREDDKYRLDLLTQAGVDVIVLDSSQGNSVYQIAMVHYIKQKYPHLQVI
GGNVVTAAQAKNLIDAGVDGLRVGMGCGSICITQEVMACGRPQGTAVYKVAEYARRFGVP
IIADGGIQTVGHVVKALALGASTVMMGSLLAATTEAPGEYFFSDGVRLKKYRGMGSLDAM
EKSSSSQKRYFSEGDKVKIAQGVSGSIQDKGSIQKFVPYLIAGIQHGCQDIGARSLSVLR
SMMYSGELKFEKRTMSAQIEGGVHGLHSYEKRLY

Sequence length

514

Interactions

View interactions

	KEGG		Reactome
	Purine metabolism Drug metabolism - other enzymes Metabolic pathways Nucleotide metabolism		Neutrophil degranulation Purine ribonucleoside monophosphate biosynthesis

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
Leber congenital amaurosis 11	Pathogenic; Likely pathogenic	rs121912554, rs1057518949, rs1798086782	RCV000015963 RCV001198950 RCV004698350	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs1225476931, rs121912550, rs121912552, rs2535731868, rs2535731890, rs2535761770, rs1798216037	RCV004817145 RCV003887871 RCV003887872 RCV003891139 RCV003891140 RCV003891151 RCV001074747 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs1057518949, rs1562998089, rs1584728115, rs1238921380	RCV000415244 RCV000787617 RCV001003054 RCV001199478	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa 10	Pathogenic; Likely pathogenic	rs1798090540, rs886037911, rs2116601689, rs121912550, rs121912552, rs1798086782	RCV004798947 RCV000240659 RCV003389600 RCV000015959 RCV000015961 RCV005866859 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (12)

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.
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMPDH1-related disorder	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leber congenital amaurosis	Likely benign; Uncertain significance	ClinVar CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa, Dominant	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROIDITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (81)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Age related macular degeneration	Age-related macular degeneration	BEFREE	16384941		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amaurosis congenita of Leber, type 1	Leber congenital amaurosis	BEFREE	16384941, 16936083		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	22952885		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22952885	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36494680, 36524514, 36618420	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33221754	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	36401332	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Color Vision Defects	Color vision deficiency	Pubtator	16214101	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35114976	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Amaurosis of Retinal Origin	Dysgenesis Neuroepithelialis Retinae	CTD_human_DG	16384941		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital blindness	Congenital blindness	BEFREE	20238057		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic neutropenia	Pubtator	20679962	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deficiency of phosphoglycerate kinase	Deficiency Of Phosphoglycerate Kinase	BEFREE	16671097		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	23666569		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	23666569		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	23666569	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Geographic Atrophy	Geographic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	21745452	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	36401332	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	LHGDN	17001353		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber Congenital Amaurosis	BEFREE	16384941, 16936083, 24791140		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	CTD_human_DG	16384941		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	ORPHANET_DG	16384941, 25685757		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	16384941, 18936139, 24791140	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Leber congenital amaurosis	Leber Congenital Amaurosis	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	GENOMICS_ENGLAND_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LEBER CONGENITAL AMAUROSIS 11	Leber Congenital Amaurosis	UNIPROT_DG	16384941		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber Congenital Amaurosis 11	Leber congenital amaurosis	Pubtator	37569264	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LEBER CONGENITAL AMAUROSIS 11	Leber Congenital Amaurosis	GENOMICS_ENGLAND_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LEBER CONGENITAL AMAUROSIS 11	Leber Congenital Amaurosis	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LEBER CONGENITAL AMAUROSIS 11	Leber Congenital Amaurosis	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukemia Myeloid	Myeloid leukemia	Pubtator	2879579	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	28869324		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	26332308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular degeneration	Macular Degeneration	BEFREE	16384941		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22952885		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	30927276	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Neuritis	Optic neuritis	Pubtator	33524926	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Phosphoglycerate Kinase 1 Deficiency	Phosphoglycerate Kinase 1 Deficiency	BEFREE	16671097		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	16214101, 16384941, 28945494, 32821486	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	20238057	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	16799052	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	16936083, 18385099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	LHGDN	11875049, 11875050, 15465556, 16038673, 18552984		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	11875050, 15851576, 16272056, 18552984, 20238057, 20817636, 21791244, 22183375, 24791140, 31838626		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CTD_human_DG	11875050, 16384941		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	11875050, 15882147, 15994872, 16214101, 16384941, 16799052, 18295591, 20238057, 21791244, 23559859, 23950152, 24791140, 24940031, 26720483, 32795431, 32821486, 8723719 View all (2 more)	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RETINITIS PIGMENTOSA 1	Retinitis Pigmentosa	BEFREE	18552984		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa 10	Retinitis Pigmentosa	UNIPROT_DG	11875049, 11875050, 16384941		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 10	Retinitis Pigmentosa	BEFREE	16671097, 18385099		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 10	Retinitis pigmentosa	Pubtator	37569264	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 10	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 10	Retinitis Pigmentosa	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 10	Retinitis Pigmentosa	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa 7	Retinitis Pigmentosa	BEFREE	8571961		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stargardt Disease	Stargardt disease	Pubtator	24791140	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	35480865, 37215997	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

IMPDH1 (inosine monophosphate dehydrogenase 1)