PRODH, proline dehydrogenase 1, 5625

N. diseases: 85; N. variants: 17
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 GeneticVariation disease BEFREE Here, we report on the expression of wild-type and L441P variants of human PO in a U87 glioblastoma human cell line in an attempt to assess their effect on glutamate metabolism. 29694413 2018
CUI: C0220620
Disease: Gastrointestinal Carcinoid Tumor
Gastrointestinal Carcinoid Tumor 		0.010 AlteredExpression disease BEFREE We used GCT derived cell lines of varying differentiation stages to analyze expression of HERVK and PRODH. 29963023 2018
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 GeneticVariation disease BEFREE Here, we report on the expression of wild-type and L441P variants of human PO in a U87 glioblastoma human cell line in an attempt to assess their effect on glutamate metabolism. 29694413 2018
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 GeneticVariation disease BEFREE Here, we report on the expression of wild-type and L441P variants of human PO in a U87 glioblastoma human cell line in an attempt to assess their effect on glutamate metabolism. 29694413 2018
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 GeneticVariation disease BEFREE Here, we report on the expression of wild-type and L441P variants of human PO in a U87 glioblastoma human cell line in an attempt to assess their effect on glutamate metabolism. 29694413 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 Biomarker disease BEFREE We generated a constitutively knocked-down PRODH/POX MCF-7 breast cancer cell line (MCF-7shPRODH/POX) as a model to analyze the functional consequences of impaired intracellular proline levels. 28942439 2017
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.010 Biomarker disease BEFREE Finally, we show that proline oxidase (PRODH1) is required for PDAC cell proliferation in vitro and in vivo. 28685754 2017
CUI: C4082937
Disease: Necrotizing enterocolitis in fetus OR newborn
Necrotizing enterocolitis in fetus OR newborn 		0.010 AlteredExpression disease BEFREE Our results showed that expressions of arginine synthesizing enzymes ALDH18A1, ASL, ASS1, CPS1, GLS, OAT and PRODH were significantly decreased in NEC compared with Surg-CTL or SIP tissues. 26895666 2016
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 GeneticVariation group BEFREE In the TOF patients, we found four copy number gains affecting three genes, of which two are important regulators of heart development (NOTCH1, ISL1) and one is located in a region associated with cardiac malformations (PRODH at 22q11). 24400131 2014
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.010 Biomarker disease BEFREE PRODH maps to chromosome 22q11, a region conferring the highest known genetic risk of schizophrenia, and encodes proline oxidase, which catalyzes proline catabolism. l-Proline is a neuromodulator at glutamatergic synapses, and peripheral hyperprolinemia has been associated with decreased IQ, cognitive impairment, schizoaffective disorder, and schizophrenia. 24787057 2014
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.010 GeneticVariation group BEFREE Association between autism spectrum disorder in individuals with velocardiofacial (22q11.2 deletion) syndrome and PRODH and COMT genotypes. 25325218 2014
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.010 Biomarker disease BEFREE Our results suggest that PRODH and COMT may interact to contribute to the ASD phenotype in individuals with VCFS. 25325218 2014
CUI: C0007398
Disease: Catatonia
Catatonia 		0.010 GeneticVariation disease BEFREE Medical conditions associated with catatonia included auto-immune encephalitis (systemic lupus erythematosus [N=3] and anti-NMDA-receptor encephalitis [N=1]), seizures (N=1), ciclosporin encephalitis (N=1), post hypoglycaemic coma encephalitis (N=1), and genetic or metabolic conditions (chorea [N=2], 5HT cerebrospinal fluid deficit [N=1], storage disease [N=1], fatal familial insomnia [FFI; N=1], and PRODH mutations [N=1]). 22401837 2012
CUI: C0008489
Disease: Chorea
Chorea 		0.010 GeneticVariation phenotype BEFREE Medical conditions associated with catatonia included auto-immune encephalitis (systemic lupus erythematosus [N=3] and anti-NMDA-receptor encephalitis [N=1]), seizures (N=1), ciclosporin encephalitis (N=1), post hypoglycaemic coma encephalitis (N=1), and genetic or metabolic conditions (chorea [N=2], 5HT cerebrospinal fluid deficit [N=1], storage disease [N=1], fatal familial insomnia [FFI; N=1], and PRODH mutations [N=1]). 22401837 2012
CUI: C0014038
Disease: Encephalitis
Encephalitis 		0.010 GeneticVariation disease BEFREE Medical conditions associated with catatonia included auto-immune encephalitis (systemic lupus erythematosus [N=3] and anti-NMDA-receptor encephalitis [N=1]), seizures (N=1), ciclosporin encephalitis (N=1), post hypoglycaemic coma encephalitis (N=1), and genetic or metabolic conditions (chorea [N=2], 5HT cerebrospinal fluid deficit [N=1], storage disease [N=1], fatal familial insomnia [FFI; N=1], and PRODH mutations [N=1]). 22401837 2012
CUI: C0020617
Disease: Hypoglycemic coma
Hypoglycemic coma 		0.010 GeneticVariation disease BEFREE Medical conditions associated with catatonia included auto-immune encephalitis (systemic lupus erythematosus [N=3] and anti-NMDA-receptor encephalitis [N=1]), seizures (N=1), ciclosporin encephalitis (N=1), post hypoglycaemic coma encephalitis (N=1), and genetic or metabolic conditions (chorea [N=2], 5HT cerebrospinal fluid deficit [N=1], storage disease [N=1], fatal familial insomnia [FFI; N=1], and PRODH mutations [N=1]). 22401837 2012
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 GeneticVariation disease BEFREE Medical conditions associated with catatonia included auto-immune encephalitis (systemic lupus erythematosus [N=3] and anti-NMDA-receptor encephalitis [N=1]), seizures (N=1), ciclosporin encephalitis (N=1), post hypoglycaemic coma encephalitis (N=1), and genetic or metabolic conditions (chorea [N=2], 5HT cerebrospinal fluid deficit [N=1], storage disease [N=1], fatal familial insomnia [FFI; N=1], and PRODH mutations [N=1]). 22401837 2012
CUI: C2986717
Disease: Anti-N-Methyl-D-Aspartate Receptor Encephalitis
Anti-N-Methyl-D-Aspartate Receptor Encephalitis 		0.010 GeneticVariation disease BEFREE Medical conditions associated with catatonia included auto-immune encephalitis (systemic lupus erythematosus [N=3] and anti-NMDA-receptor encephalitis [N=1]), seizures (N=1), ciclosporin encephalitis (N=1), post hypoglycaemic coma encephalitis (N=1), and genetic or metabolic conditions (chorea [N=2], 5HT cerebrospinal fluid deficit [N=1], storage disease [N=1], fatal familial insomnia [FFI; N=1], and PRODH mutations [N=1]). 22401837 2012
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney 		0.010 Biomarker disease BEFREE In this study, we identified the upregulated miR-23b in renal cancer as an important regulator of POX. 20562915 2010
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma 		0.010 Biomarker disease BEFREE In this study, we identified the upregulated miR-23b in renal cancer as an important regulator of POX. 20562915 2010
CUI: C0003467
Disease: Anxiety
Anxiety 		0.010 GeneticVariation disease BEFREE A risk PRODH haplotype affects sensorimotor gating, memory, schizotypy, and anxiety in healthy male subjects. 19232576 2009
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		0.010 GeneticVariation group BEFREE A risk PRODH haplotype affects sensorimotor gating, memory, schizotypy, and anxiety in healthy male subjects. 19232576 2009
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.010 GeneticVariation disease BEFREE Individual significance (P = .02 without correction for multiple testing) was reached for the association between autism and a 350-kilobase deletion located at 22q11 and spanning the PRODH and DGCR6 genes. 19736351 2009
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.010 Biomarker group LHGDN Proline oxidase, a p53-induced gene, targets COX-2/PGE2 signaling to induce apoptosis and inhibit tumor growth in colorectal cancers. 18794809 2008
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.010 GeneticVariation disease LHGDN We screened four Italian children with HPI presenting epilepsy, mental retardation, and behavioral disorders for PRODH gene mutations, and attempted a genotype-phenotype correlation. 18197084 2008