Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.100 Biomarker HPO

Entrez Id: 3606
Gene Symbol: IL18
IL18
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.010 AlteredExpression LHGDN Levels of interleukin-18 (IL-18), a pleiotropic cytokines expressed in the brain and many other tissues, are highly sensitive to pathophysiological changes to raise the possibility that IL-18 may provide a useful indicator of PVL. 11895335

2002

Entrez Id: 3558
Gene Symbol: IL2
IL2
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.010 Biomarker LHGDN These results suggest that interleukin-2, reported to be toxic to oligodendrocytes and myelin, could play a role in the molecular cascade leading to white matter damage in periventricular leukomalacia. 11940709

2002

Entrez Id: 4661
Gene Symbol: MYT1
MYT1
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.010 Biomarker LHGDN Therefore, MyT1 may play an important role in the myelin repair in PVL regions. 12524179

2003

Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.010 GeneticVariation BEFREE Secondary outcomes (intraventricular hemorrhage and periventricular leukomalacia) similarly were not influenced by the ACE ID polymorphism. 15610555

2004

Entrez Id: 7124
Gene Symbol: TNF
TNF
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.220 Biomarker RGD Consistent with reports that progenitor cells are preferentially injured in PVL, our results may further support the role of TNF-alpha as a potential mediator of PVL. 15765524

2005

Entrez Id: 6506
Gene Symbol: SLC1A2
SLC1A2
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.010 AlteredExpression LHGDN EAAT2 mRNA was abundant in human fetal white matter during the period of peak incidence of PVL and virtually disappeared by 2 postnatal months. 17311320

2007

Entrez Id: 6506
Gene Symbol: SLC1A2
SLC1A2
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.010 AlteredExpression BEFREE EAAT2 mRNA was abundant in human fetal white matter during the period of peak incidence of PVL and virtually disappeared by 2 postnatal months. 17311320

2007

Entrez Id: 2056
Gene Symbol: EPO
EPO
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.010 AlteredExpression LHGDN Erythropoietin levels were not different between those with and those without periventricular leukomalacia. 18160550

2008

Entrez Id: 3569
Gene Symbol: IL6
IL6
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.050 GeneticVariation BEFREE Interleukin-6 G(--174)C polymorphism is associated with mental retardation in cystic periventricular leucomalacia in preterm infants. 19147624

2009

Entrez Id: 1401
Gene Symbol: CRP
CRP
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.010 Biomarker BEFREE CRP > or = 10 mg/dL was more likely in pvl+ infections than in pvl- infections (P = 0.05). 19820424

2009

Entrez Id: 3569
Gene Symbol: IL6
IL6
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.050 GeneticVariation BEFREE Maternal interleukin-6 (-174) C/C polymorphism is associated with chorioamnionitis and cystic periventricular leucomalacia of the preterm infant. 20237486

2010

Entrez Id: 7124
Gene Symbol: TNF
TNF
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.220 AlteredExpression BEFREE Antioxidant enzyme gene expression levels (Superoxide Dismutase-SOD1, SOD2, and SOD3) were increased and Tumor Necrosis Factor (TNF)α expression levels were decreased in the PC+PVL group when compared with the PVL group. 23063716

2012

Entrez Id: 7124
Gene Symbol: TNF
TNF
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.220 GeneticVariation BEFREE Maternal and infant IL-10 (-1082, -819) and TNF-α (-308) genotypes are not indicative for an increased risk of preterm birth or the development of PVL in premature newborns. 21527907

2012

Entrez Id: 3586
Gene Symbol: IL10
IL10
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.010 GeneticVariation BEFREE Maternal and infant IL-10 (-1082, -819) and TNF-α (-308) genotypes are not indicative for an increased risk of preterm birth or the development of PVL in premature newborns. 21527907

2012

Entrez Id: 6648
Gene Symbol: SOD2
SOD2
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.010 AlteredExpression BEFREE Antioxidant enzyme gene expression levels (Superoxide Dismutase-SOD1, SOD2, and SOD3) were increased and Tumor Necrosis Factor (TNF)α expression levels were decreased in the PC+PVL group when compared with the PVL group. 23063716

2012

Entrez Id: 6649
Gene Symbol: SOD3
SOD3
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.010 AlteredExpression BEFREE Antioxidant enzyme gene expression levels (Superoxide Dismutase-SOD1, SOD2, and SOD3) were increased and Tumor Necrosis Factor (TNF)α expression levels were decreased in the PC+PVL group when compared with the PVL group. 23063716

2012

Entrez Id: 4155
Gene Symbol: MBP
MBP
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.210 Biomarker RGD Protective effects of pentoxifylline on lipopolysaccharide-induced white matter injury in a rat model of periventricular leukomalasia. 23614640

2013

Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.010 GeneticVariation BEFREE She also had periventricular leukomalacia and abnormal electroencephalography results and a PEX 1 gene mutation. 23327810

2013

Entrez Id: 339324
Gene Symbol: ZNF260
ZNF260
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.010 GeneticVariation BEFREE She also had periventricular leukomalacia and abnormal electroencephalography results and a PEX 1 gene mutation. 23327810

2013

Entrez Id: 7097
Gene Symbol: TLR2
TLR2
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.010 GeneticVariation BEFREE Toll-like receptors, especially TLRs 2 and 4, are associated with necrotizing enterocolitis, periventricular leukomalacia and sepsis. 23419040

2013

Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.010 GeneticVariation BEFREE COL4A1 mutations disrupt the integrity of vascular basement membranes, so predisposing to a broad spectrum of disorders including periventricular leucomalacia, haemorrhagic stroke, aneurysm formation, epilepsy and developmental delay. 24864020

2014

Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.010 Biomarker BEFREE These findings provide an animal model that reproduces the temporal and spatial specificities of PVL and indicate that damage to VEGF-dependent, immature periventricular vessels contributes to PVL development. 25689256

2015

Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.010 Biomarker BEFREE Neurobehavioral analysis in the PVL mice model at P60 showed that the HI group had a significant decrease in hind limb strength, worsening rotarod testing and worsening performance in the open field test. 28406931

2017

Entrez Id: 8066
Gene Symbol: ANC
ANC
CUI: C0023529
Disease: Leukomalacia, Periventricular
Leukomalacia, Periventricular
0.010 Biomarker BEFREE Moderate to low quality evidence indicates that exposure to ANC is associated with reduction in mortality and IVH/or PVL in neonates born before 25 weeks. 28486556

2017