Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1001179
rs1001179
CAT
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.010 GeneticVariation BEFREE CAT rs1001179 polymorphism could be used to identify children that have a higher susceptibility to cerebral palsy after perinatal HIE. 27302388

2016

dbSNP: rs1005573
rs1005573
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.010 GeneticVariation BEFREE The haplotype CTTG for rs6517135-rs1005573-rs6517137-rs9653711 in OLIG2 was also significantly associated with the occurrence of CP in infants with HIE (p = 0.01, OR = 0.521). 30178266

2019

dbSNP: rs1042714
rs1042714
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.010 GeneticVariation BEFREE In white non-Hispanic children, beta-2 adrenergic receptor gln27glu was associated with CP risk; in Hispanic children, plasminogen activator inhibitor-1 (PAI-1) 4G(-675)5G and G11053T were associated with risk of CP. 15718364

2005

dbSNP: rs10431386
rs10431386
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.010 GeneticVariation BEFREE The results of in vitro studies suggest that C alleles of rs10431386 and rs7964786 on MLEC promotes CP by inhibiting M1 to M2 macrophage polarization. 28972276

2018

dbSNP: rs1057519583
rs1057519583
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.010 GeneticVariation BEFREE Free energy landscape analysis revealed the presence of multiple energy minima, suggesting that R135T and D157Y mutations destabilize and alter the conformational dynamics of STN1 and thus may be associated with the CP syndrome. 31245382

2019

dbSNP: rs1060499939
rs1060499939
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1060499939
rs1060499939
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
T 0.700 GeneticVariation CLINVAR

dbSNP: rs10774909
rs10774909
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.010 GeneticVariation BEFREE Subgroup analysis revealed differences in genotype frequencies between the CP with neonatal encephalopathy group (CP + NE) and control group for rs10774909, rs3741475, and rs2682826 (after SNPSpD correction, p = 0.004, 0.012, and 0.002, respectively). 29940959

2018

dbSNP: rs1126616
rs1126616
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.010 GeneticVariation BEFREE We found an association between rs1126616 and global CP (corrected allelic P = 0.0006 and genotypic P = 0.0011 after Bonferroni correction). 27114095

2016

dbSNP: rs1131692230
rs1131692230
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
G 0.700 GeneticVariation CLINVAR

dbSNP: rs11728697
rs11728697
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.010 GeneticVariation BEFREE To explore the genetic association between OPN gene single nucleotide polymorphisms (SNPs) and CP in the Chinese Han population, five SNPs (rs2853744, rs2853749, rs11728697, rs4754, and rs1126616) were genotyped among 715 CP patients and 658 healthy controls using the MassArray platform. 27114095

2016

dbSNP: rs1191926239
rs1191926239
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.010 GeneticVariation BEFREE This study investigates associations between selected inflammatory mediator and cytokine gene polymorphisms (Toll-like receptor-4 (TLR-4) Asp299Gly, interleukin-6 G-174C and interleukin-4 C-589T) and CP from 443 CP infants and 883 control infants. 19566553

2009

dbSNP: rs1217401
rs1217401
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.010 GeneticVariation BEFREE Subgroup analysis showed that rs1217401 of AP4B1 was significantly associated with CP as a sequela of hypoxic-ischemic encephalopathy (HIE) (CP + HIE) (allele: p = 0.042151; genotype: p = 4.46 × 10(-6)). 24065543

2013

dbSNP: rs1217691063
rs1217691063
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.010 GeneticVariation BEFREE MTHFR C677T approximately doubles the risk of CP in preterm infants. 16202738

2005

dbSNP: rs121918399
rs121918399
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.010 GeneticVariation BEFREE A haplotype consisting of the five SNPs rs769446(C), rs405509(C), rs121918399(C), rs429358(T), and rs190853081(G) was associated with a decreased risk of CP (P = 0.002 after Bonferroni correction). 24522486

2014

dbSNP: rs121918455
rs121918455
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
G 0.700 CausalMutation CLINVAR

dbSNP: rs1345176461
rs1345176461
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1411040
rs1411040
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.010 GeneticVariation BEFREE Significant association was found for an association between CP and rs1961495 (allele: p = 0.008, odds ratio (OR) = 1.387, 95% confidence interval (CI) = 1.088-1.767) and rs1411040 (allele: p = 0.009, OR = 1.746, 95% CI = 1.148-2.656) SNPs of the COL4A1 gene. 26748532

2016

dbSNP: rs1476413
rs1476413
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.020 GeneticVariation BEFREE Subgroup analysis found statistically significant difference in allele and genotype frequencies between cases with both CP and MR (CP + MR) compared with both CP-only cases and controls at rs4846049, rs1476413 and rs1801131. 20962791

2011

dbSNP: rs1476413
rs1476413
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.020 GeneticVariation BEFREE This study aims to examine whether the presence of polymorphisms in TNF-α (rs361525 and rs1799724) and MTHFR (rs1476413 and rs9651118) genes is associated with the pathogenesis of cerebral palsy (CP). 26646537

2016

dbSNP: rs1477816966
rs1477816966
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.010 GeneticVariation BEFREE Single nucleotide polymorphisms (SNPs) showing evidence of association with development of CP were endothelial nitric oxide synthase (eNOS) A(-922)G, factor 7 (F7) arg353gln and del(-323)10bp-ins, and lymphotoxin A (LTA) thr26asn. 15718364

2005

dbSNP: rs1553630279
rs1553630279
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
T 0.700 CausalMutation CLINVAR Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. 27915094

2017

dbSNP: rs1553630279
rs1553630279
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
T 0.700 CausalMutation CLINVAR [Intraoperative echocardiographic assessment of left ventricular muscle volume changes after intracardiac operation under cardiopulmonary bypass]. 2614104

1989

dbSNP: rs1553630279
rs1553630279
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
T 0.700 CausalMutation CLINVAR A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency. 24668549

2014

dbSNP: rs1554208945
rs1554208945
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
C 0.700 GeneticVariation CLINVAR