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

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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

292

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Leber congenital amaurosis 11	Pathogenic; Likely pathogenic	rs121912554, rs1057518949, rs1798086782	RCV000015963 RCV001198950 RCV004698350
Retinal dystrophy	Pathogenic; Likely pathogenic	rs1225476931, rs121912550, rs121912552, rs2535731868, rs2535731890, rs2535761770, rs1798216037	RCV004817145 RCV003887871 RCV003887872 RCV003891139 RCV003891140 RCV003891151 RCV001074747
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs1057518949, rs1562998089, rs1584728115, rs1238921380	RCV000415244 RCV000787617 RCV001003054 RCV001199478
Retinitis pigmentosa 10	Pathogenic; Likely pathogenic	rs1798090540, rs886037911, rs2116601689, rs121912550, rs121912552, rs1798086782	RCV004798947 RCV000240659 RCV003389600 RCV000015959 RCV000015961 RCV005866859

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Familial cancer of breast	Conflicting classifications of pathogenicity	rs143796089	RCV005903240
IMPDH1-related disorder	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs371337802, rs72624951, rs932987662, rs149603914, rs1216059194, rs72624961, rs138502867, rs766762363, rs144659635, rs72624967, rs143796089, rs200403236, rs1191029159, rs372943232	RCV004540300 RCV004536189 RCV004538597 RCV004538669 RCV004736173 RCV004535194 RCV004734777 RCV004536540 RCV004544684 RCV004533626 RCV004735905 RCV004530967 RCV004735954 RCV004735953
Leber congenital amaurosis	Likely benign; Uncertain significance	rs183121204, rs1584727989	RCV000386090 RCV000787841
Malignant lymphoma, large B-cell, diffuse	Benign	rs28580600	RCV005923826
Melanoma	Uncertain significance	rs1584727593	RCV005923943
Retinitis Pigmentosa, Dominant	Likely benign	rs183121204	RCV000293909
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs143796089	RCV005903241
Uterine carcinosarcoma	Benign	rs28580600	RCV005923827
Uveal melanoma	Benign	rs28580600	RCV005923825

Show/Hide Text Mining Associations (31)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	22952885
Carcinoma Hepatocellular	Associate	36494680, 36524514, 36618420
Carcinoma Renal Cell	Associate	33221754
Cardiomyopathy Dilated	Associate	36401332
Color Vision Defects	Associate	16214101
Colorectal Neoplasms	Associate	35114976
Cyclic neutropenia	Associate	20679962
Diabetes Mellitus	Associate	23666569
Drug Related Side Effects and Adverse Reactions	Associate	30927276
Graft vs Host Disease	Associate	21745452
Heart Failure	Associate	36401332
Immunoglobulin G4 Related Disease	Associate	24791140
Leber Congenital Amaurosis	Associate	16384941, 18936139, 24791140
Leber Congenital Amaurosis 11	Associate	37569264
Leukemia Myeloid	Inhibit	2879579
Leukopenia	Associate	28869324, 32077136
Macular Edema	Associate	16214101
Neoplasm Metastasis	Associate	33918387
Neoplasms	Associate	36618420
Neuromyelitis Optica	Associate	33524926
Neutropenia	Associate	30927276
Optic Neuritis	Associate	33524926
Respiratory Distress Syndrome In Premature Infants	Associate	24791140
Retinal Degeneration	Associate	16214101, 16384941, 28945494, 32821486
Retinal Degeneration	Stimulate	20238057
Retinal Diseases	Associate	16799052
Retinal Dystrophies	Associate	24791140
Retinitis Pigmentosa	Associate	11875050, 15882147, 15994872, 16214101, 16384941, 16799052, 18295591, 20238057, 21791244, 23559859, 23950152, 24791140, 24940031, 26720483, 32795431, 32821486, 8723719 View all (2 more)
Retinitis Pigmentosa 10	Associate	37569264
Stargardt Disease	Associate	24791140
Urinary Bladder Neoplasms	Associate	35480865, 37215997

IMPDH1 (inosine monophosphate dehydrogenase 1)