MCID: PRM002
MIFTS: 53

Primary Hyperoxaluria

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Metabolic diseases

Aliases & Classifications for Primary Hyperoxaluria

MalaCards integrated aliases for Primary Hyperoxaluria:

Name: Primary Hyperoxaluria 12 72 24 55 36 28 14 69
Hyperoxaluria, Primary 72 24 41
Hyperoxaluria 41 69 28
Primary Oxalosis 24 69
Oxalosis 24 69
Peroxisomal Alanine:glyoxylate Aminotransferase Deficiency 24
D-Glycerate Dehydrogenase Deficiency 24
Primary Hyperoxaluria, Type I 69
Primary Hyperoxaluria Type 2 69
Hepatic Agt Deficiency 24
Hyperoxaluria Primary 51
Congenital Oxaluria 24
Glycolic Aciduria 24
Glyceric Aciduria 24
Oxaluria, Primary 24
Primary Oxaluria 24

Characteristics:

Orphanet epidemiological data:

55
primary hyperoxaluria
Inheritance: Autosomal recessive; Age of onset: All ages;

Classifications:



External Ids:

Disease Ontology 12 DOID:2977
ICD10 32 E72.53
NCIt 46 C123158
Orphanet 55 ORPHA416
MESH via Orphanet 42 D006959
UMLS via Orphanet 70 C0020500 C0020501
ICD10 via Orphanet 33 E74.8
KEGG 36 H00117

Summaries for Primary Hyperoxaluria

Genetics Home Reference : 24 Primary hyperoxaluria is a rare condition characterized by recurrent kidney and bladder stones. The condition often results in end stage renal disease (ESRD), which is a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively.

MalaCards based summary : Primary Hyperoxaluria, also known as hyperoxaluria, primary, is related to nephrolithiasis, calcium oxalate and nephrocalcinosis, and has symptoms including bone pain An important gene associated with Primary Hyperoxaluria is AGXT (Alanine-Glyoxylate Aminotransferase), and among its related pathways/superpathways are Glycine, serine and threonine metabolism and Glyoxylate and dicarboxylate metabolism. The drugs Bone Density Conservation Agents and Calcium, Dietary have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and bone, and related phenotype is renal/urinary system.

Related Diseases for Primary Hyperoxaluria

Diseases in the Primary Hyperoxaluria family:

Hyperoxaluria, Primary, Type I Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Primary, Type Iii

Diseases related to Primary Hyperoxaluria via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
# Related Disease Score Top Affiliating Genes
1 nephrolithiasis, calcium oxalate 32.1 AGXT GRHPR
2 nephrocalcinosis 30.3 AGXT GRHPR
3 nephrolithiasis 29.3 AGXT GRHPR
4 d-glyceric aciduria 12.7
5 hyperoxaluria, primary, type ii 12.1
6 hyperoxaluria, primary, type i 12.1
7 hyperoxaluria, primary, type iii 11.7
8 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.0
9 hydroxycarboxylic aciduria 11.0
10 hepatitis 10.3
11 blood group, i system 10.1
12 end stage renal failure 10.1
13 peroxisomal acyl-coa oxidase deficiency 10.0 AGXT PEX5
14 retinitis 10.0
15 kidney disease 10.0
16 peritonitis 10.0
17 peroxisomal disease 9.9 AGXT PEX5
18 hypothyroidism 9.9
19 cohen-gibson syndrome 9.8
20 pancytopenia 9.8
21 carbohydrate metabolic disorder 9.8 AGXT GRHPR HOGA1
22 hypercalcemia, infantile, 1 9.7
23 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 9.7
24 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.7
25 chromosome 2q37 deletion syndrome 9.7
26 patent ductus arteriosus 1 9.7
27 episodic pain syndrome, familial, 1 9.7
28 liver cirrhosis 9.7
29 liver disease 9.7
30 renal tubular acidosis 9.7
31 brachydactyly 9.7
32 autosomal recessive disease 9.7
33 thrombosis 9.7
34 choroiditis 9.7
35 calcinosis 9.7
36 thrombophilia 9.7
37 cerebritis 9.7
38 arthropathy 9.7
39 restrictive cardiomyopathy 9.7
40 polyradiculoneuropathy 9.7
41 calciphylaxis 9.7
42 adenosine deaminase deficiency 9.7
43 vasculitis 9.7
44 neuropathy 9.7
45 autosomal dominant polycystic kidney disease 9.7
46 polycystic kidney disease 9.7

Graphical network of the top 20 diseases related to Primary Hyperoxaluria:



Diseases related to Primary Hyperoxaluria

Symptoms & Phenotypes for Primary Hyperoxaluria

UMLS symptoms related to Primary Hyperoxaluria:


bone pain

MGI Mouse Phenotypes related to Primary Hyperoxaluria:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.02 AGXT AGXT2 GRHPR HOGA1 PEX5

Drugs & Therapeutics for Primary Hyperoxaluria

Drugs for Primary Hyperoxaluria (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 59)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Bone Density Conservation Agents Phase 2, Phase 3
2 Calcium, Dietary Phase 2, Phase 3,Phase 1
3 Protective Agents Phase 3
4
Vorinostat Approved, Investigational Phase 2 149647-78-9 5311
5
Pravastatin Approved Phase 2 81093-37-0 54687
6
Zoledronic acid Approved Phase 2 118072-93-8 68740
7
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
8
Pyridoxal Approved, Nutraceutical Phase 2 66-72-8 1050
9
Pyridoxal Phosphate Approved, Investigational, Nutraceutical Phase 2 54-47-7 1051
10
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 2 65-23-6 1054
11
Betaine Approved, Nutraceutical Phase 2 107-43-7 247
12 Micronutrients Phase 2
13 Pharmaceutical Solutions Phase 2,Phase 1
14 Trace Elements Phase 2
15 Vitamin B 6 Phase 2
16 Vitamin B Complex Phase 2
17 Vitamins Phase 2
18 Antimetabolites Phase 2
19 Gastrointestinal Agents Phase 2
20 Hypolipidemic Agents Phase 2
21 Lipid Regulating Agents Phase 2
22 Histone Deacetylase Inhibitors Phase 2
23 Anticholesteremic Agents Phase 2
24 Diphosphonates Phase 2
25 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
26 Folate Nutraceutical Phase 2
27 Vitamin B9 Nutraceutical Phase 2
28 leucine Nutraceutical Phase 1, Phase 2
29 Liver Extracts Phase 1
30
Iron Approved 7439-89-6 23925
31
Amoxicillin Approved, Vet_approved 26787-78-0 33613 2171
32
Clarithromycin Approved 81103-11-9 84029
33
Esomeprazole Approved, Investigational 161796-78-7, 119141-88-7 9579578 4594
34
Metronidazole Approved 443-48-1 4173
35
Tetracycline Approved, Vet_approved 60-54-8 5353990
36 Tocopherol Approved, Investigational, Nutraceutical
37
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
38 ferric gluconate
39 Hematinics
40 Anti-Bacterial Agents
41 Antibiotics, Antitubercular
42 Antioxidants
43 Tocopherols
44 Tocotrienols
45 Antacids
46 Anti-Infective Agents
47 Antiparasitic Agents
48 Antiprotozoal Agents
49 Anti-Ulcer Agents
50
Bismuth 7440-69-9 105143 16682734

Interventional clinical trials:

(show all 37)

# Name Status NCT ID Phase Drugs
1 Study to Evaluate the Efficacy and Safety of OxabactTM on Reduction of Urinary Oxalate in Primary Hyperoxaluria Patients Completed NCT00638703 Phase 2, Phase 3 Placebo
2 Phase 2/3 Oxabact Study Completed NCT01037231 Phase 2, Phase 3 Placebo
3 Low Salt Diet in Idiopathic Hypercalciuria Completed NCT01005082 Phase 2, Phase 3
4 A Study to Evaluate the Efficacy and Safety of Oxabact in Patients With Primary Hyperoxaluria Recruiting NCT03116685 Phase 3
5 Renal Protective Effect of ACEI and ARB in Primary Hyperoxaluria Withdrawn NCT00280215 Phase 3 ACEI / Angiotensin converting enzyme inhibitor;ARB /Angiotensin Receptor Blocker;Placebo
6 Trial on Treatment of Patients With Primary Hyperoxaluria Type I With Pyridoxal-phosphate Completed NCT01281878 Phase 2 Vitamin B 6
7 Study to Evaluate the Efficacy and Safety of Oxabact (OC5) in Patients With Primary Hyperoxaluria Completed NCT02012985 Phase 1, Phase 2 Placebo capsules
8 Efficacy of Betaine for Reduction of Urine Oxalate in Patients With Type 1 Primary Hyperoxaluria Completed NCT00283387 Phase 2 Betaine;Placebo
9 Hydroxyproline Influence on Oxalate Metabolism Completed NCT02038543 Phase 1, Phase 2 Hydroxyproline and Leucine
10 Vorinostat in Treating Patients With Metastatic or Unresectable Melanoma Completed NCT00121225 Phase 2 vorinostat
11 Study of ALN-GO1 in Healthy Adult Subjects and Patients With Primary Hyperoxaluria Type 1 Recruiting NCT02706886 Phase 1, Phase 2 ALN-GO1;Sterile Normal Saline (0.9% NaCl)
12 Study to Evaluate the Efficacy and Safety of Oxabact (OC5) in Primary Hyperoxaluria Patients Who Are on Dialysis Active, not recruiting NCT02000219 Phase 2
13 An Extension Study of an Investigational Drug, ALN-GO1, in Patients With Primary Hyperoxaluria Type 1 Enrolling by invitation NCT03350451 Phase 2 ALN-GO1
14 Study of Zoledronic Acid, Pravastatin, and Lonafarnib for Patients With Progeria Enrolling by invitation NCT00916747 Phase 2 Lonafarnib, Zoledronic Acid, and Pravastatin
15 Study of ALLN-177 in Patients Aged 12 Years or Older With Enteric or Primary Hyperoxaluria and Hyperoxalemia Not yet recruiting NCT03391804 Phase 2 ALLN-177
16 A Trial of Pyridoxamine to Lower Urine Oxalate in Subjects With Stone Disease or Hyperoxaluria Withdrawn NCT00490113 Phase 2 Pyridoxamine
17 Primary Hyperoxaluria Mutation Genotyping Completed NCT00589225 Phase 1
18 Study of DCR-PHXC-101 in Normal Healthy Volunteers and Patients With Primary Hyperoxaluria Recruiting NCT03392896 Phase 1 DCR-PHXC;Placebo
19 Enteric Oxalate Absorption Study in Unclassified Hyperoxaluria Active, not recruiting NCT00588120 Phase 1 C-13 labeled oxalate
20 A Study of DCR-PH1 in Patients With Primary Hyperoxaluria Type 1 (PH1) Terminated NCT02795325 Phase 1 DCR-PHXC
21 The Type of Hepatoglobin in IUGR Unknown status NCT02127385
22 Effects of Carnitine on Oxidative Stress to IVIR Administration to CKD Patients:Impact of Haptoglobin Genotype Unknown status NCT02312414 L-Canitine
23 Haptoglobin and Diabetes Complications in Pregnancy Unknown status NCT01758016
24 IDENTIFICATION OF A MULTI-ANALYTE PROFILE FOR PRIMARY HYPEROXALURIA AND COMPARISON WITH HEALTHY SIBLINGS AND IDIOPATHIC HYPERCALCIURIA Completed NCT02830009
25 Prevalence of Different Haptoglobin Phenotypes in Patients With COPD- Frequent Exacerbators Versus Non Exacerbators Completed NCT01745419
26 Haptoglobin Phenotype, Vitamin E and High-density Lipoprotein (HDL) Function in Type 1 Diabetes Completed NCT01098994
27 Five Days Quadruple and Clarithromycin Containing Triple Therapy as Treatment for Helicobacter Pylori Eradication Completed NCT01306786 Quadruple therapy;Triple therapy
28 Primary Hyperoxaluria Mutation Genotyping/Phenotyping Recruiting NCT02340689
29 Rare Kidney Stone Consortium Patient Registry Recruiting NCT00588562
30 Descriptive Analysis of Gut Microbiome Alterations in Hyperoxaluric Patients Recruiting NCT02794649
31 Rare Kidney Stone Consortium Biobank Recruiting NCT02026388
32 Prospective Research Rare Kidney Stones (ProRKS) Recruiting NCT02780297
33 Health-related Quality of Life in Rare Kidney Stone Recruiting NCT02124395
34 Monogenic Kidney Stone - Genetic Testing Recruiting NCT03305835
35 Proteomics of Primary Hyperoxaluria Type 1 Active, not recruiting NCT03067142
36 Associations Between Diabetes Care and Haptoglobin Genotype On outComes Active, not recruiting NCT00872456
37 International Registry for Primary Hyperoxaluria Withdrawn NCT00875823

Search NIH Clinical Center for Primary Hyperoxaluria

Cochrane evidence based reviews: hyperoxaluria, primary

Genetic Tests for Primary Hyperoxaluria

Genetic tests related to Primary Hyperoxaluria:

# Genetic test Affiliating Genes
1 Primary Hyperoxaluria 28
2 Hyperoxaluria 28

Anatomical Context for Primary Hyperoxaluria

MalaCards organs/tissues related to Primary Hyperoxaluria:

38
Kidney, Liver, Bone, Testes, Bone Marrow, Fetal Liver, Skin

Publications for Primary Hyperoxaluria

Articles related to Primary Hyperoxaluria:

(show top 50) (show all 628)
# Title Authors Year
1
Invited response to recurrence of oxalate nephropathy after isolated kidney transplantation for primary hyperoxaluria type 2. ( 29160959 )
2018
2
Recurrence of oxalate nephropathy after isolated kidney transplantation for primary hyperoxaluria type 2. ( 29068142 )
2018
3
Liver-kidney simultaneous transplantation in adult patients with primary hyperoxaluria. Experience at Hospital Universitario 12 de Octubre. ( 29106285 )
2018
4
Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow-up of primary hyperoxaluria type III. ( 28711958 )
2017
5
Correlation between the molecular effects of mutations at the dimer interface of alanine-glyoxylate aminotransferase leading to primary hyperoxaluria type I and the cellular response to vitamin B<sub>6</sub>. ( 29110180 )
2017
6
Primary hyperoxaluria detected by bone marrow biopsy: case report. ( 28943803 )
2017
7
Molecular therapy of primary hyperoxaluria. ( 28425073 )
2017
8
Unusual clinical outcome of primary Hyperoxaluria type 1 in Tunisian patients carrying 33_34InsC mutation. ( 28619084 )
2017
9
Combined Liver-Kidney Transplantation for Primary Hyperoxaluria Type 2: A Case Report. ( 28681512 )
2017
10
Crystal clear cerebral ultrasound images mimicking acute asphyxia in an infant with primary hyperoxaluria. ( 28651815 )
2017
11
Type 1 primary hyperoxaluria: A case report and focus on bone impairment of systemic oxalosis. ( 29102553 )
2017
12
Clinical and Genetic Profile of Indian Children with Primary Hyperoxaluria. ( 28553045 )
2017
13
Anemia in patient with primary hyperoxaluria and bone marrow involvement by oxalate crystals. ( 29066173 )
2017
14
Multidisciplinary Cooperation in a Simultaneous Combined Liver and Kidney Transplantation Patient of Primary Hyperoxaluria 1. ( 28598458 )
2017
15
Primary hyperoxaluria: spectrum of clinical and imaging findings. ( 27844104 )
2017
16
Bilateral native nephrectomy to reduce oxalate stores in children at the time of combined liver-kidney transplantation for primary hyperoxaluria type 1. ( 29243158 )
2017
17
Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism. ( 28569194 )
2017
18
Primary Hyperoxaluria Type 1 with Homozygosity for a Double-mutated AGXT Allele in a 2-year-old Child. ( 28904440 )
2017
19
Clinical spectrum of primary hyperoxaluria typeA 1: Experience of a tertiary center. ( 28161266 )
2017
20
Identification of compound heterozygous patients with primary hyperoxaluria type 1: clinical evaluations and in silico investigations. ( 28969594 )
2017
21
Primary hyperoxaluria in populations of Pakistan origin: results from a literature review and two major registries. ( 28660284 )
2017
22
A randomised Phase II/III study to evaluate the efficacy and safety of orally administered Oxalobacter formigenes to treat primary hyperoxaluria. ( 28718073 )
2017
23
Central nervous system involvement in primary hyperoxaluria demonstrated by brain ultrasonography. ( 28728813 )
2017
24
Folding Defects Leading to Primary Hyperoxaluria. ( 29071511 )
2017
25
Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1. ( 27935012 )
2017
26
ENDOCRINE MANIFESTATIONS OF PRIMARY HYPEROXALURIA. ( 29144803 )
2017
27
Re: A Randomised Phase I/II Trial to Evaluate the Efficacy and Safety of Orally Administered Oxalobacter formigenes to Treat Primary Hyperoxaluria. ( 28505910 )
2017
28
Genotype-phenotype variability of retinal manifestation in primary hyperoxaluria type 1. ( 29244539 )
2017
29
Combined liver and kidney transplantation in two women with primary hyperoxaluria: Different roads led to different outcomes. ( 28209444 )
2017
30
Late diagnosis of primary hyperoxaluria type III. ( 27742850 )
2017
31
Plasma oxalate in relation to eGFR in patients with primary hyperoxaluria, enteric hyperoxaluria and urinary stone disease. ( 28764885 )
2017
32
Opposite effect of polymorphic mutations on the electrostatic aggregation of human alanine:glyoxylate aminotransferase: implications for the pathogenesis of Primary Hyperoxaluria Type I. ( 28906061 )
2017
33
Primary Hyperoxaluria. ( 28402768 )
2017
34
Type 1 primary hyperoxaluria in a male infant. ( 29285432 )
2017
35
Re: Use of Polymer Conjugates for the Intraperoxisomal Delivery of Engineered Humanalanine:Glyoxylate Aminotransferase as a Protein Therapy for Primary Hyperoxaluria Type I. ( 29370645 )
2017
36
Inhibition of Glycolate Oxidase With Dicer-substrate siRNA Reduces Calcium Oxalate Deposition in a Mouse Model of Primary Hyperoxaluria Type 1. ( 26758691 )
2016
37
Natural and unnatural compounds rescue folding defects of human alanine:glyoxylate aminotransferase leading to Primary Hyperoxaluria Type I. ( 26931357 )
2016
38
Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria. ( 26946417 )
2016
39
Complexity of pre-emptive liver transplantation in children with primary hyperoxaluria type 1. ( 27292943 )
2016
40
Re: Glycolate Oxidase is a Safe and Efficient Target for Substrate Reduction Therapy in a Mouse Model of Primary Hyperoxaluria Type I. ( 27321540 )
2016
41
Primary hyperoxaluria in an adult male: A rare cause of end-stage kidney disease yet potentially fatal if misdiagnosed. ( 27215260 )
2016
42
Helper-dependent adenoviral vectors for liver-directed gene therapy of primary hyperoxaluria type 1. ( 26609667 )
2016
43
HOGA1 Gene Mutations of Primary Hyperoxaluria Type 3 in Tunisian Patients. ( 27561601 )
2016
44
Metabolism of (13)C5-hydroxyproline in mouse models of Primary Hyperoxaluria and its inhibition by RNAi therapeutics targeting liver glycolate oxidase and hydroxyproline dehydrogenase. ( 26655602 )
2016
45
Identification of a novel AGXT gene mutation in primary hyperoxaluria after kidney transplantation failure. ( 27568336 )
2016
46
Calcium oxalate crystalluria points to primary hyperoxaluria type 1. ( 26759051 )
2016
47
Re: Surgical Management of Stone Disease in Patients with Primary Hyperoxaluria. ( 26699967 )
2016
48
Use of polymer conjugates for the intraperoxisomal delivery of engineered human alanine:glyoxylate aminotransferase as a protein therapy for primary hyperoxaluria type I. ( 27993722 )
2016
49
Generation and characterization of human iPSC lines derived from a Primary Hyperoxaluria Type I patient with p.I244T mutation. ( 27345794 )
2016
50
The first experience of sequential liver-kidney transplantation for the treatment of primary hyperoxaluria type-1 in Iran as a developing country. ( 27424700 )
2016

Variations for Primary Hyperoxaluria

ClinVar genetic disease variations for Primary Hyperoxaluria:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HOGA1 NM_138413.3(HOGA1): c.107C> T (p.Ala36Val) single nucleotide variant Pathogenic/Likely pathogenic rs201803986 GRCh38 Chromosome 10, 97584810: 97584810

Expression for Primary Hyperoxaluria

Search GEO for disease gene expression data for Primary Hyperoxaluria.

Pathways for Primary Hyperoxaluria

Pathways related to Primary Hyperoxaluria according to KEGG:

36
# Name Kegg Source Accession
1 Glycine, serine and threonine metabolism hsa00260
2 Glyoxylate and dicarboxylate metabolism hsa00630

Pathways related to Primary Hyperoxaluria according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.54 AGXT AGXT2 GRHPR HAO1 HOGA1 PRODH
2
Show member pathways
13.24 AGXT AGXT2 GRHPR HAO1 PRODH
3 11.42 AGXT HAO1 PEX5
4
Show member pathways
11.19 HOGA1 PRODH PRODH2
5
Show member pathways
11.05 AGXT AGXT2 GRHPR
6 10.95 AGXT AGXT2
7
Show member pathways
10.87 AGXT AGXT2 GRHPR HAO1
8 10.37 AGXT GRHPR HAO1 HOGA1

GO Terms for Primary Hyperoxaluria

Cellular components related to Primary Hyperoxaluria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.46 AGXT AGXT2 HOGA1 PRODH
2 peroxisome GO:0005777 9.43 AGXT HAO1 PEX5
3 mitochondrion GO:0005739 9.43 AGXT AGXT2 HOGA1 PEX5 PRODH PRODH2
4 peroxisomal matrix GO:0005782 8.8 AGXT GRHPR HAO1

Biological processes related to Primary Hyperoxaluria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.78 GRHPR HAO1 PRODH PRODH2
2 pyruvate biosynthetic process GO:0042866 9.46 AGXT HOGA1
3 4-hydroxyproline catabolic process GO:0019470 9.43 HOGA1 PRODH
4 proline catabolic process GO:0006562 9.4 PRODH PRODH2
5 proline metabolic process GO:0006560 9.37 PRODH PRODH2
6 cellular nitrogen compound metabolic process GO:0034641 9.33 AGXT GRHPR HAO1
7 proline catabolic process to glutamate GO:0010133 9.32 PRODH PRODH2
8 glycine biosynthetic process, by transamination of glyoxylate GO:0019265 9.26 AGXT AGXT2
9 glyoxylate catabolic process GO:0009436 9.13 AGXT AGXT2 HOGA1
10 glyoxylate metabolic process GO:0046487 8.92 AGXT AGXT2 HOGA1 PRODH2

Molecular functions related to Primary Hyperoxaluria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.56 GRHPR HAO1 PRODH PRODH2
2 pyridoxal phosphate binding GO:0030170 9.37 AGXT AGXT2
3 transaminase activity GO:0008483 9.32 AGXT AGXT2
4 FAD binding GO:0071949 9.16 PRODH PRODH2
5 alanine-glyoxylate transaminase activity GO:0008453 8.96 AGXT AGXT2
6 proline dehydrogenase activity GO:0004657 8.62 PRODH PRODH2

Sources for Primary Hyperoxaluria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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