HMBS, hydroxymethylbilane synthase, 3145

N. diseases: 140; N. variants: 66
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0235950
Disease: Zinc deficiency
Zinc deficiency 		0.010 AlteredExpression disease BEFREE Related to the herein used experimental setup, the use ofGAPDH to study gene expression upon zinc deficiency and PBGD to study gene expression after zinc supplementation is recommended. 31513994 2019
CUI: C1262477
Disease: Weight decreased
Weight decreased 		0.100 Biomarker phenotype HPO
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.100 GeneticVariation phenotype GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
CUI: C0042963
Disease: Vomiting
Vomiting 		0.100 CausalMutation phenotype CLINVAR
CUI: C0042963
Disease: Vomiting
Vomiting 		0.100 Biomarker phenotype HPO
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.040 GeneticVariation disease BEFREE Variegate porphyria (VP) and acute intermittent porphyria (AIP), the two most common types of acute porphyrias (AHPs), result from a partial deficiency of protoporphyrinogen oxidase (PPOX) and hydroxymethylbilane synthase (HMBS), respectively. 25445397 2015
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.040 GeneticVariation disease BEFREE We have so far identified 50 different mutations among 4 genes associated with the most common porphyrias showing a high molecular heterogeneity: 22 in the hydroxymethylbilane synthase (HMBS) gene (AIP), 7 in the protoporphyrinogen oxidase (PPOX) gene (VP), 16 in the uroporphyrinogen decarboxylase (UROD) gene (PCT) and 5 in the ferrochelatase (FECH) gene (EPP). 12699245 2002
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.040 AlteredExpression disease BEFREE Mean porphobilinogen deaminase activity in the erythrocytes of twenty-one patients with variegate porphyria was 8.37 +/- 1.99 nmol of uroporphyrin 1 erythrocytes-1 s-1, a 28% reduction (P less than 0.001) from normal (11.98 +/- 2.11). 3015635 1986
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.040 AlteredExpression disease BEFREE Studies of the enzymes of haem biosynthesis in peripheral blood cells showed a dual enzyme deficiency, with reduced activity of both porphobilinogen deaminase, as seen in acute intermittent porphyria, and protoporphyrinogen oxidase, as seen in variegate porphyria. 2864531 1985
CUI: C0338113
Disease: Uterine Corpus Sarcoma
Uterine Corpus Sarcoma 		0.010 Biomarker disease BEFREE We used RNA extracts from 75 tissue samples, representing 50 tumors and 25 fragments of normal uterine tissues obtained from 50 patients treated for mixed tumors, smooth muscle sarcoma and stromal sarcoma of the uterus. qRT-PCR for five potential reference (housekeeping) genes, namely B2M, HMBS, HPRT1, TBP and UBC, was performed. 22266404 2012
CUI: C0522153
Disease: Urine Discoloration
Urine Discoloration 		0.100 Biomarker phenotype HPO
CUI: C0080274
Disease: Urinary Retention
Urinary Retention 		0.100 CausalMutation phenotype CLINVAR
CUI: C0080274
Disease: Urinary Retention
Urinary Retention 		0.100 Biomarker phenotype HPO
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		0.100 Biomarker phenotype HPO
CUI: C2188153
Disease: Undifferentiated/Unclassified Sarcoma
Undifferentiated/Unclassified Sarcoma 		0.010 Biomarker disease BEFREE In the present study, tumor resected from 4 patients with a biopsy-proven USTS (2 undifferentiated pleomorphic sarcoma [UPS], 1 undifferentiated sarcoma not otherwise specified [NOS] and 1 undifferentiated spindle cell sarcoma [USS]) were grown orthotopically in the biceps femoris muscle of mice to establish PDOX models. 29481803 2018
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.010 GeneticVariation disease BEFREE The question of genetic heterogeneity in tuberous sclerosis (TSC) was addressed by genetic linkage studies in eight affected families using nine polymorphic markers (EFD126.3, MCT136, ABO, ABL, AK1, and MCOA12 from distal 9q, and PBGD, MCT128.1, and 1CJ52.208M from distal 11q). 2769723 1989
CUI: C0039231
Disease: Tachycardia
Tachycardia 		0.100 Biomarker phenotype HPO
CUI: C0039231
Disease: Tachycardia
Tachycardia 		0.100 CausalMutation phenotype CLINVAR
CUI: C1370723
Disease: Stromal sarcoma
Stromal sarcoma 		0.010 Biomarker disease BEFREE We used RNA extracts from 75 tissue samples, representing 50 tumors and 25 fragments of normal uterine tissues obtained from 50 patients treated for mixed tumors, smooth muscle sarcoma and stromal sarcoma of the uterus. qRT-PCR for five potential reference (housekeeping) genes, namely B2M, HMBS, HPRT1, TBP and UBC, was performed. 22266404 2012
CUI: C0917801
Disease: Sleeplessness
Sleeplessness 		0.100 Biomarker phenotype HPO
CUI: C2712360
Disease: Severe hypoxic ischemic encephalopathy
Severe hypoxic ischemic encephalopathy 		0.010 AlteredExpression disease BEFREE In human placental tIssue, significantly higher levels of ADM/PBGD mRNA were present in asphyxiated newborn infants with severe hypoxic-ischemic encephalopathy (HIE) (n=5) compared with patients with mild or no HIE (n=15). 12444904 2002
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C0036631
Disease: Seminoma
Seminoma 		0.010 AlteredExpression disease BEFREE Ubiquitin C (protein degradation) was down-regulated, GAPDH (carbohydrate metabolism), beta-actin (cytoskeleton), 18S rRNA (ribosome) and PBGD (porphyrin metabolism) were up-regulated in seminoma. 15823405 2005
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 CausalMutation phenotype CLINVAR