PNKP, polynucleotide kinase 3'-phosphatase, 11284

N. diseases: 163; N. variants: 17
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786203983
rs786203983
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C0026650
Disease:
Movement Disorders
A 0.700 CausalMutation CLINVAR Interface between psychoanalysis and family therapy. 7165045 1982
dbSNP: rs1247055716
rs1247055716
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C3150667
Disease:
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555810613
rs1555810613
Entrez Id: 11284;101928378
Gene Symbol: PNKP;PTOV1-AS2
PNKP;PTOV1-AS2
CUI: C4225397
Disease:
ATAXIA-OCULOMOTOR APRAXIA 4
TGCAGTACA 0.700 CausalMutation CLINVAR
dbSNP: rs199919568
rs199919568
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C3150667
Disease:
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY
G 0.700 CausalMutation CLINVAR
dbSNP: rs199919568
rs199919568
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C3150667
Disease:
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY
G 0.700 GeneticVariation CLINVAR
dbSNP: rs372148913
rs372148913
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C3150667
Disease:
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY
A 0.700 GeneticVariation CLINVAR
dbSNP: rs539286945
rs539286945
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C3150988
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
A 0.700 CausalMutation CLINVAR
dbSNP: rs587784365
rs587784365
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C3150667
Disease:
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY
TGTTGTCGATGGCGACCC 0.700 CausalMutation CLINVAR
dbSNP: rs587784365
rs587784365
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C4225397
Disease:
ATAXIA-OCULOMOTOR APRAXIA 4
TGTTGTCGATGGCGACCC 0.700 CausalMutation CLINVAR
dbSNP: rs587784366
rs587784366
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C3150667
Disease:
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY
A 0.700 CausalMutation CLINVAR
dbSNP: rs587784366
rs587784366
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C1859598
Disease:
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
A 0.700 GeneticVariation CLINVAR
dbSNP: rs730882224
rs730882224
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C0740279
Disease:
Cerebellar atrophy
GTGTCGATGGCGACCCGT 0.700 GeneticVariation CLINVAR
dbSNP: rs730882224
rs730882224
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C0557874
Disease:
Global developmental delay
GTGTCGATGGCGACCCGT 0.700 GeneticVariation CLINVAR
dbSNP: rs730882224
rs730882224
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C0431350
Disease:
Primary microcephaly
GTGTCGATGGCGACCCGT 0.700 GeneticVariation CLINVAR
dbSNP: rs752902474
rs752902474
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C3150667
Disease:
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY
A 0.700 CausalMutation CLINVAR
dbSNP: rs766530579
rs766530579
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C3150988
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
T 0.700 CausalMutation CLINVAR
dbSNP: rs786205207
rs786205207
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C3150667
Disease:
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY
C 0.700 GeneticVariation CLINVAR
dbSNP: rs796052859
rs796052859
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C3150988
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
TA 0.700 CausalMutation CLINVAR
dbSNP: rs886037744
rs886037744
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C4225397
Disease:
ATAXIA-OCULOMOTOR APRAXIA 4
CCGGCT 0.700 CausalMutation CLINVAR
dbSNP: rs267606956
rs267606956
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
CUI: C0008073
Disease:
Developmental Disabilities
0.010 GeneticVariation BEFREE A mutation on this surface (E326K) causes the hereditary neuro-developmental disorder, MCSZ. 28453785 2017