Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12602950
rs12602950
CNP
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		A 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576

2018
dbSNP: rs2070106
rs2070106
CNP
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.050 GeneticVariation BEFREE Additionally, we found the loss-of-function allele of a myelin-specific gene (CNP rs2070106-AA) associated with catatonia in 2 independent schizophrenia cohorts and also associated with white matter hyperintensities in a general population sample. 29252214

2018
dbSNP: rs2070106
rs2070106
CNP
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.050 GeneticVariation BEFREE We found that genetic polymorphisms in CNP (rs2070106) and OLIG2 (rs1059004 and rs9653711), previously associated with schizophrenia, predicted low expression of these genes. 17964117

2008
dbSNP: rs2070106
rs2070106
CNP
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.050 GeneticVariation BEFREE The A-allele of rs2070106 within the 2',3'-cyclic nucleotide 3'-phosphodiesterase (CNP), an oligodendrocyte-related gene, was reported to show reduced expression compared with the G-allele, and proposed to be associated with schizophrenia. 18289148

2008
dbSNP: rs2070106
rs2070106
CNP
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.050 GeneticVariation BEFREE The CNP SNP (rs2070106) was potentially associated with schizophrenia (P=0.027). 18496213

2008
dbSNP: rs2070106
rs2070106
CNP
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.050 GeneticVariation BEFREE A synonymous genetic variation in the CNP gene, rs2070106, has recently been shown to be associated with schizophrenia in Caucasians. 17306456

2007
dbSNP: rs1345128632
rs1345128632
CNP
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 GeneticVariation BEFREE The superoxide dismutase 1(G93A G1H) (SOD1(G93A G1H)) transgenic mouse is a model of familial human amyotrophic lateral sclerosis (ALS) that has progressive neurodegeneration within the spinal cord and brainstem. 17439705

2007
dbSNP: rs1345128632
rs1345128632
CNP
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.010 GeneticVariation BEFREE Increased number and differentiation of neural precursor cells in the brainstem of superoxide dismutase 1(G93A) (G1H) transgenic mouse model of amyotrophic lateral sclerosis. 17439705

2007
dbSNP: rs2070106
rs2070106
CNP
CUI: C0007398
Disease: Catatonia
Catatonia 		0.010 GeneticVariation BEFREE Additionally, we found the loss-of-function allele of a myelin-specific gene (CNP rs2070106-AA) associated with catatonia in 2 independent schizophrenia cohorts and also associated with white matter hyperintensities in a general population sample. 29252214

2018
dbSNP: rs2070106
rs2070106
CNP
CUI: C0004936
Disease: Mental disorders
Mental disorders 		0.010 GeneticVariation BEFREE This phenotype is strikingly similar in Cnp heterozygous mice and patients with mental disease carrying the AA genotype at CNP SNP rs2070106. 22473874

2012
dbSNP: rs2070106
rs2070106
CNP
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		0.010 GeneticVariation BEFREE We investigated the role of variation in putative psychosis genes coding for elements of the white matter system by examining the contribution of genotypic variation in three single-nucleotide polymorphisms (SNPs) neuregulin 1 (NRG1) SNP8NRG221533, myelin oligodendrocytes glycoprotein (MOG) rs2857766 and CNP (rs2070106) and one haplotype HAP(ICE) (deCODE) to white matter volume in patients with psychotic disorder and their unaffected relatives. 23032943

2012