rs786203983
|
Entrez Id: |
11284 |
Gene Symbol: |
PNKP |
PNKP
|
Movement Disorders
|
A |
0.700 |
CausalMutation |
CLINVAR |
Interface between psychoanalysis and family therapy.
|
7165045 |
1982 |
rs786205207
|
Entrez Id: |
11284 |
Gene Symbol: |
PNKP |
PNKP
|
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs786205207
|
Entrez Id: |
11284 |
Gene Symbol: |
PNKP |
PNKP
|
ATAXIA-OCULOMOTOR APRAXIA 4
|
C |
0.700 |
CausalMutation |
CLINVAR |
Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.
|
25728773 |
2015 |
rs886037744
|
Entrez Id: |
11284 |
Gene Symbol: |
PNKP |
PNKP
|
ATAXIA-OCULOMOTOR APRAXIA 4
|
CCGGCT |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs199919568
|
Entrez Id: |
11284 |
Gene Symbol: |
PNKP |
PNKP
|
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs199919568
|
Entrez Id: |
11284 |
Gene Symbol: |
PNKP |
PNKP
|
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs730882224
|
Entrez Id: |
11284 |
Gene Symbol: |
PNKP |
PNKP
|
Cerebellar atrophy
|
GTGTCGATGGCGACCCGT |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs730882224
|
Entrez Id: |
11284 |
Gene Symbol: |
PNKP |
PNKP
|
Global developmental delay
|
GTGTCGATGGCGACCCGT |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs730882224
|
Entrez Id: |
11284 |
Gene Symbol: |
PNKP |
PNKP
|
Primary microcephaly
|
GTGTCGATGGCGACCCGT |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs267606956
|
Entrez Id: |
11284 |
Gene Symbol: |
PNKP |
PNKP
|
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs766530579
|
Entrez Id: |
11284 |
Gene Symbol: |
PNKP |
PNKP
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs796052859
|
Entrez Id: |
11284 |
Gene Symbol: |
PNKP |
PNKP
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
|
TA |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1555810613
|
PNKP;PTOV1-AS2
|
ATAXIA-OCULOMOTOR APRAXIA 4
|
TGCAGTACA |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs587784365
|
Entrez Id: |
11284 |
Gene Symbol: |
PNKP |
PNKP
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
|
TGTTGTCGATGGCGACCC |
0.700 |
CausalMutation |
CLINVAR |
Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.
|
25728773 |
2015 |
rs587784365
|
Entrez Id: |
11284 |
Gene Symbol: |
PNKP |
PNKP
|
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY
|
TGTTGTCGATGGCGACCC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs587784365
|
Entrez Id: |
11284 |
Gene Symbol: |
PNKP |
PNKP
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
|
TGTTGTCGATGGCGACCC |
0.700 |
CausalMutation |
CLINVAR |
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
|
25558065 |
2015 |
rs587784365
|
Entrez Id: |
11284 |
Gene Symbol: |
PNKP |
PNKP
|
ATAXIA-OCULOMOTOR APRAXIA 4
|
TGTTGTCGATGGCGACCC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs587784365
|
Entrez Id: |
11284 |
Gene Symbol: |
PNKP |
PNKP
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
|
TGTTGTCGATGGCGACCC |
0.700 |
CausalMutation |
CLINVAR |
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.
|
20118933 |
2010 |
rs587784365
|
Entrez Id: |
11284 |
Gene Symbol: |
PNKP |
PNKP
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
|
TGTTGTCGATGGCGACCC |
0.700 |
CausalMutation |
CLINVAR |
Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations.
|
23224214 |
2013 |
rs587784365
|
Entrez Id: |
11284 |
Gene Symbol: |
PNKP |
PNKP
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
|
TGTTGTCGATGGCGACCC |
0.700 |
CausalMutation |
CLINVAR |
Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair.
|
22508754 |
2012 |