Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs937726878
rs937726878
PMM2 ; TMEM186
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs80338700
rs80338700
PMM2
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		T 0.700 CausalMutation CLINVAR

dbSNP: rs780533096
rs780533096
MIPEP
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs767399782
rs767399782
TUBB4A
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs756421370
rs756421370
MECR
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		TA 0.700 CausalMutation CLINVAR

dbSNP: rs61749721
rs61749721
MECP2
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		A 0.700 CausalMutation CLINVAR

dbSNP: rs606231435
rs606231435
ATP1A3
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		T 0.700 CausalMutation CLINVAR

dbSNP: rs564185858
rs564185858
ADD3
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		A 0.700 CausalMutation CLINVAR

dbSNP: rs28936415
rs28936415
PMM2
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1555377415
rs1555377415
IRF2BPL ; LOC107984638
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555303073
rs1555303073
COL4A1
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555247672
rs1555247672
MED13L
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1554208945
rs1554208945
ZNF292
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs121918455
rs121918455
PTPN11
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1131692230
rs1131692230
PDHA1
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		G 0.700 GeneticVariation CLINVAR

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

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

dbSNP: rs1553630279
rs1553630279
CTNNB1
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: rs28934906
rs28934906
MECP2
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		A 0.700 GeneticVariation CLINVAR Chronic osteomyelitis in patients with sickle cell disease. 10944834

2000
dbSNP: rs28934906
rs28934906
MECP2
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		A 0.700 GeneticVariation CLINVAR Prenatal diagnosis in Rett syndrome. 12065946

2003
dbSNP: rs1477816966
rs1477816966
NOS3
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: rs1217691063
rs1217691063
MTHFR
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: rs1042714
rs1042714
ADRB2
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: rs28934906
rs28934906
MECP2
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		A 0.700 GeneticVariation CLINVAR MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. 17089071

2007