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	9380
Gene name	Glyoxylate and hydroxypyruvate reductase
Gene symbol	GRHPR
Synonyms (NCBI Gene)	GLXRGLYDPH2
Chromosome	9
Chromosome location	9p13.2
Summary	This gene encodes an enzyme with hydroxypyruvate reductase, glyoxylate reductase, and D-glycerate dehydrogenase enzymatic activities. The enzyme has widespread tissue expression and has a role in metabolism. Type II hyperoxaluria is caused by mutations in

Show/Hide all (63)

SNP ID	Visualize variation	Clinical significance	Consequence
rs309458	A>C,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs34302950	TCTCTCTCTC>-,TC,TCTC,TCTCTC,TCTCTCTC,TCTCTCTCTCTC,TCTCTCTCTCTCTC,TCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTC	Conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs80356708	G>-	Likely-pathogenic, pathogenic	Frameshift variant, non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant
rs111256477	G>C,T	Likely-pathogenic, uncertain-significance	Splice donor variant
rs119490108	C>T	Pathogenic	Non coding transcript variant, 5 prime UTR variant, stop gained, intron variant, coding sequence variant
rs142835989	G>A,T	Likely-pathogenic	Missense variant, non coding transcript variant, intron variant, coding sequence variant
rs148049120	G>A	Likely-pathogenic	Splice donor variant, non coding transcript variant
rs180177304	G>A	Likely-pathogenic	5 prime UTR variant, intron variant, stop gained, non coding transcript variant, coding sequence variant
rs180177305	T>C	Pathogenic	5 prime UTR variant, intron variant, missense variant, non coding transcript variant, coding sequence variant
rs180177307	G>A,T	Likely-pathogenic	5 prime UTR variant, intron variant, stop gained, missense variant, non coding transcript variant, coding sequence variant
rs180177308	G>-	Pathogenic	5 prime UTR variant, intron variant, frameshift variant, non coding transcript variant, coding sequence variant
rs180177309	AAGT>-	Pathogenic-likely-pathogenic	5 prime UTR variant, intron variant, splice donor variant, non coding transcript variant, coding sequence variant
rs180177311	A>-	Pathogenic	Frameshift variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs180177312	G>A	Pathogenic	Missense variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs180177313	T>A,G	Likely-pathogenic	Splice donor variant, non coding transcript variant, 5 prime UTR variant
rs180177314	G>A	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs180177315	T>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs180177316	CT>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs180177317	G>A	Likely-pathogenic	Non coding transcript variant, splice acceptor variant
rs180177319	A>G	Pathogenic	Intron variant, splice acceptor variant
rs180177320	CCCC>-	Pathogenic	Intron variant
rs180177321	TG>-	Pathogenic-likely-pathogenic, pathogenic	Inframe indel, frameshift variant, stop gained, non coding transcript variant, coding sequence variant
rs180177322	C>T	Likely-pathogenic, pathogenic	Missense variant, non coding transcript variant, intron variant, coding sequence variant
rs180177323	G>A	Pathogenic	Missense variant, non coding transcript variant, intron variant, coding sequence variant
rs180177324	A>G	Pathogenic	Missense variant, non coding transcript variant, intron variant, coding sequence variant
rs180177325	T>C,G	Pathogenic	Missense variant, non coding transcript variant, intron variant, coding sequence variant
rs672601351	TG>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs751101495	G>-,GG	Likely-pathogenic	Frameshift variant, intron variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs757796926	G>A	Likely-pathogenic	Intron variant
rs771019056	->A	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, 5 prime UTR variant
rs779208888	G>A	Likely-pathogenic	Splice acceptor variant
rs796052077	GC>AT	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs796052078	G>A,T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, 5 prime UTR variant, intron variant
rs796052079	T>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs796052080	CC>-	Pathogenic	Intron variant
rs796052081	AGT>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, splice acceptor variant, intron variant
rs796052082	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs979727637	C>A,T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, stop gained, non coding transcript variant, synonymous variant
rs1057516292	T>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1057516299	A>-	Likely-pathogenic	5 prime UTR variant, intron variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1057516823	->A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1057516831	A>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, frameshift variant
rs1057516990	T>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1057517026	TG>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant
rs1057517238	->A	Likely-pathogenic	5 prime UTR variant, intron variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1057517333	GC>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant
rs1057517398	T>G	Likely-pathogenic	Splice donor variant, intron variant
rs1244822375	G>C,T	Likely-pathogenic	Intron variant, splice donor variant
rs1257080057	A>-	Likely-pathogenic	Non coding transcript variant, splice acceptor variant
rs1422977131	G>A,C	Likely-pathogenic	Splice acceptor variant
rs1554746094	A>G,T	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant, initiator codon variant
rs1554746097	T>G	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant, initiator codon variant
rs1554746565	TG>-	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs1554746793	AG>-	Likely-pathogenic	Splice acceptor variant, intron variant
rs1554746962	->TACTTACCACCTGC	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs1554747871	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1554747933	G>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, splice donor variant
rs1554748528	GG>TAC	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1554748534	->T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1554748574	->G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1554748598	G>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1564300888	CTGCCCAATCTGATTTCATCGTCGTGGCCTGCTCCTTAACACCTGCAACCGAGGG>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1588757756	AG>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant

Show/Hide all (65)

miRTarBase ID	miRNA	Experiments	Reference
MIRT040697	hsa-miR-92b-3p	CLASH	23622248
MIRT035939	hsa-miR-1180-3p	CLASH	23622248
MIRT1034150	hsa-miR-1228	CLIP-seq
MIRT1034151	hsa-miR-204	CLIP-seq
MIRT1034152	hsa-miR-211	CLIP-seq
MIRT1034153	hsa-miR-3194-3p	CLIP-seq
MIRT1034154	hsa-miR-4755-5p	CLIP-seq
MIRT1034155	hsa-miR-4780	CLIP-seq
MIRT1034156	hsa-miR-623	CLIP-seq
MIRT1034157	hsa-miR-760	CLIP-seq
MIRT1034150	hsa-miR-1228	CLIP-seq
MIRT1034151	hsa-miR-204	CLIP-seq
MIRT1034152	hsa-miR-211	CLIP-seq
MIRT1034153	hsa-miR-3194-3p	CLIP-seq
MIRT1034154	hsa-miR-4755-5p	CLIP-seq
MIRT1034155	hsa-miR-4780	CLIP-seq
MIRT1034156	hsa-miR-623	CLIP-seq
MIRT1034157	hsa-miR-760	CLIP-seq
MIRT2239103	hsa-miR-3591-3p	CLIP-seq
MIRT2239104	hsa-miR-3657	CLIP-seq
MIRT2239105	hsa-miR-4501	CLIP-seq
MIRT2239106	hsa-miR-4504	CLIP-seq
MIRT2239107	hsa-miR-4669	CLIP-seq
MIRT2239108	hsa-miR-542-3p	CLIP-seq
MIRT1034150	hsa-miR-1228	CLIP-seq
MIRT1034151	hsa-miR-204	CLIP-seq
MIRT1034152	hsa-miR-211	CLIP-seq
MIRT2543032	hsa-miR-2115	CLIP-seq
MIRT1034153	hsa-miR-3194-3p	CLIP-seq
MIRT2543033	hsa-miR-3675-3p	CLIP-seq
MIRT2543034	hsa-miR-3691-5p	CLIP-seq
MIRT2543035	hsa-miR-3977	CLIP-seq
MIRT2543036	hsa-miR-4290	CLIP-seq
MIRT2543037	hsa-miR-452	CLIP-seq
MIRT2543038	hsa-miR-4676-3p	CLIP-seq
MIRT2543039	hsa-miR-4684-5p	CLIP-seq
MIRT2543040	hsa-miR-4685-5p	CLIP-seq
MIRT2543041	hsa-miR-4752	CLIP-seq
MIRT1034154	hsa-miR-4755-5p	CLIP-seq
MIRT1034155	hsa-miR-4780	CLIP-seq
MIRT2543042	hsa-miR-516a-3p	CLIP-seq
MIRT2543043	hsa-miR-564	CLIP-seq
MIRT1034156	hsa-miR-623	CLIP-seq
MIRT2543044	hsa-miR-661	CLIP-seq
MIRT1034157	hsa-miR-760	CLIP-seq
MIRT1034150	hsa-miR-1228	CLIP-seq
MIRT1034151	hsa-miR-204	CLIP-seq
MIRT1034152	hsa-miR-211	CLIP-seq
MIRT2543032	hsa-miR-2115	CLIP-seq
MIRT1034153	hsa-miR-3194-3p	CLIP-seq
MIRT2543033	hsa-miR-3675-3p	CLIP-seq
MIRT2543034	hsa-miR-3691-5p	CLIP-seq
MIRT2543035	hsa-miR-3977	CLIP-seq
MIRT2543036	hsa-miR-4290	CLIP-seq
MIRT2543037	hsa-miR-452	CLIP-seq
MIRT2543038	hsa-miR-4676-3p	CLIP-seq
MIRT2543039	hsa-miR-4684-5p	CLIP-seq
MIRT2543040	hsa-miR-4685-5p	CLIP-seq
MIRT2543041	hsa-miR-4752	CLIP-seq
MIRT1034154	hsa-miR-4755-5p	CLIP-seq
MIRT1034155	hsa-miR-4780	CLIP-seq
MIRT2543042	hsa-miR-516a-3p	CLIP-seq
MIRT2543043	hsa-miR-564	CLIP-seq
MIRT1034156	hsa-miR-623	CLIP-seq
MIRT1034157	hsa-miR-760	CLIP-seq

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	23599041
GO:0005737	Component	Cytoplasm	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005782	Component	Peroxisomal matrix	TAS
GO:0005829	Component	Cytosol	IBA
GO:0008465	Function	Hydroxypyruvate reductase (NADH) activity	IBA
GO:0008465	Function	Hydroxypyruvate reductase (NADH) activity	IDA	10484776
GO:0008465	Function	Hydroxypyruvate reductase (NADH) activity	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016616	Function	Oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA
GO:0016618	Function	Hydroxypyruvate reductase [NAD(P)H] activity	IDA	10484776, 10524214, 17510093
GO:0016618	Function	Hydroxypyruvate reductase [NAD(P)H] activity	IEA
GO:0019752	Process	Carboxylic acid metabolic process	TAS
GO:0030267	Function	Glyoxylate reductase (NADPH) activity	IBA
GO:0030267	Function	Glyoxylate reductase (NADPH) activity	IDA	10484776, 10524214
GO:0030267	Function	Glyoxylate reductase (NADPH) activity	IEA
GO:0030267	Function	Glyoxylate reductase (NADPH) activity	TAS
GO:0031406	Function	Carboxylic acid binding	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	16756993
GO:0043648	Process	Dicarboxylic acid metabolic process	IEA
GO:0046487	Process	Glyoxylate metabolic process	IDA	10484776, 10524214
GO:0050661	Function	NADP binding	IEA
GO:0051287	Function	NAD binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337, 23533145
GO:0070402	Function	NADPH binding	IDA	16756993
GO:0120509	Function	Hydroxypyruvate reductase (NADPH) activity	IEA
GO:1902494	Component	Catalytic complex	IDA	16756993

MIM	HGNC	e!Ensembl
604296	4570	ENSG00000137106

Q9UBQ7

Protein name

Glyoxylate reductase/hydroxypyruvate reductase (EC 1.1.1.79) (EC 1.1.1.81)

Protein function

Enzyme with hydroxy-pyruvate reductase, glyoxylate reductase and D-glycerate dehydrogenase enzymatic activities. Reduces hydroxypyruvate to D-glycerate, glyoxylate to glycolate, oxidizes D-glycerate to hydroxypyruvate. {ECO:0000269|PubMed:104847

PDB

2GCG , 2H1S , 2Q50 , 2WWR

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00389	2-Hacid_dh	9 → 327	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	Domain
PF02826	2-Hacid_dh_C	116 → 295	D-isomer specific 2-hydroxyacid dehydrogenase, NAD binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. Most abundantly expressed in the liver. {ECO:0000269|PubMed:10679197}.

Sequence

MRPVRLMKVFVTRRIPAEGRVALARAADCEVEQWDSDEPIPAKELERGVAGAHGLLCLLS
DHVDKRILDAAGANLKVISTMSVGIDHLALDEIKKRGIRVGYTPDVLTDTTAELAVSLLL
TTCRRLPEAIEEVKNGGWTSWKPLWLCGYGLTQSTVGIIGLGRIGQAIARRLKPFGVQRF
LYTGRQPRPEEAAEFQAEFVSTPELAAQSDFIVVACSLTPATEGLCNKDFFQKMKETAVF
INISRGDVVNQDDLYQALASGKIAAAGLDVTSPEPLPTNHPLLTLKNCVILPHIGSATHR
TRNTMSLLAANNLLAGLRGEPMPSELKL

Sequence length

328

Interactions

View interactions

	KEGG		Reactome
	Glycine, serine and threonine metabolism Pyruvate metabolism Glyoxylate and dicarboxylate metabolism Metabolic pathways		Glyoxylate metabolism and glycine degradation

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 (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	Pathogenic	rs119490108	RCV005859454	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GRHPR-related disorder	Pathogenic; Likely pathogenic	rs180177314, rs774654020	RCV003927729 RCV003392593	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Likely pathogenic; Pathogenic	rs148049120	RCV005902004	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrocalcinosis	Pathogenic; Likely pathogenic	rs80356708, rs757796926	RCV000662321 RCV000662322	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrolithiasis	Pathogenic; Likely pathogenic	rs80356708, rs757796926	RCV000662321 RCV000662322	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary hyperoxaluria	Pathogenic	rs180177321, rs180177314, rs119490108	RCV000588010 RCV000585941 RCV000590094	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary hyperoxaluria, type II	Likely pathogenic; Pathogenic	rs1564300408, rs771990662, rs180177321, rs672601351, rs180177322, rs2489243310, rs2489242953, rs2489235986, rs2489235913, rs2489242940, rs2118880130, rs1455078314, rs180177307, rs796052077, rs180177311 View all (101 more)	RCV003469664 RCV001536058 RCV000149441 RCV000149442 RCV000149443 View all (120 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sarcoma	Likely pathogenic; Pathogenic	rs757796926	RCV005901427	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (27)

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.
BILIARY TRACT CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPEROXALURIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEROXALURIA, PRIMARY, TYPE II	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrolithiasis/nephrocalcinosis	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-HODGKINS LYMPHOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY HYPEROXALURIA TYPE 2	—	CTD, Disgenet, GenCC, Orphanet CTD, Disgenet, GenCC, Orphanet CTD, Disgenet, GenCC, Orphanet CTD, Disgenet, GenCC, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (35)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Atypical Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	30889567		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	30169827		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37952042	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	30889567		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperoxaluria	Hyperoxaluria	Pubtator	11135054, 12110000, 18951670, 28569194	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperoxaluria	Hyperoxaluria	BEFREE	15021200		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperoxaluria	Hyperoxaluria	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperoxaluria	Hyperoxaluria	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperoxaluria Primary	Hyperoxaluria	Pubtator	11135054, 32221050, 35661454, 36151119, 40225159	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	19296982		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	30169827		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17013881		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	CLINVAR_DG	28893421		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrocalcinosis	Nephrocalcinosis	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrolithiasis	Nephrolithiasis	BEFREE	19296982		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrolithiasis	Nephrolithiasis	CLINVAR_DG	28893421		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrolithiasis	Nephrolithiasis	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEPHROLITHIASIS, CALCIUM OXALATE	Nephronophthisis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	28274171	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Hyperoxaluria	Hyperoxaluria	LHGDN	17510093		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary Hyperoxaluria	Hyperoxaluria	BEFREE	18951670, 22688746, 30169827		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary Hyperoxaluria	Hyperoxaluria	CLINVAR_DG	24116921		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary Hyperoxaluria	Hyperoxaluria	GENOMICS_ENGLAND_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary hyperoxaluria type 1	Hyperoxaluria	Pubtator	20797690	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary hyperoxaluria type 2	Hyperoxaluria	BEFREE	10484776, 11030416, 11728965, 14635115, 16597637, 19296982, 24116921, 28569194, 28681512, 30889567		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary hyperoxaluria type 2	Hyperoxaluria	CLINVAR_DG	10484776, 11030416, 11477177, 12185464, 14635115, 15327387, 16306119, 17510093, 18560364, 24116921, 25525159, 25629080, 25644115		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary hyperoxaluria type 2	Hyperoxaluria	Pubtator	25410531, 28569194	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary hyperoxaluria type 2	Hyperoxaluria	GENOMICS_ENGLAND_DG	27604308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary hyperoxaluria type 2	Hyperoxaluria	Pubtator	28569194	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary hyperoxaluria type 2	Hyperoxaluria	ORPHANET_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary hyperoxaluria type 2	Hyperoxaluria	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary hyperoxaluria type 2	Hyperoxaluria	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary hyperoxaluria, type I	Hyperoxaluria	BEFREE	15327387, 22688746		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17013881		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

GRHPR (glyoxylate and hydroxypyruvate reductase)