×
Entrez Id:
51227
Gene Symbol:
PIGP
PIGP
0.100
Biomarker
disease
HPO
×
Entrez Id:
4537
Gene Symbol:
ND3
ND3
0.100
Biomarker
disease
HPO
×
Entrez Id:
4538
Gene Symbol:
ND4
ND4
0.100
Biomarker
disease
HPO
×
Entrez Id:
55768
Gene Symbol:
NGLY1
NGLY1
0.100
Biomarker
disease
HPO
×
Entrez Id:
547
Gene Symbol:
KIF1A
KIF1A
0.100
Biomarker
disease
HPO
×
Entrez Id:
51807
Gene Symbol:
TUBA8
TUBA8
0.100
Biomarker
disease
HPO
×
Entrez Id:
4578
Gene Symbol:
TRNW
TRNW
0.100
Biomarker
disease
HPO
×
Entrez Id:
91869
Gene Symbol:
RFT1
RFT1
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
9326
Gene Symbol:
ZNHIT3
ZNHIT3
0.100
Biomarker
disease
HPO
×
Entrez Id:
4536
Gene Symbol:
ND2
ND2
0.100
Biomarker
disease
HPO
×
Entrez Id:
26275
Gene Symbol:
HIBCH
HIBCH
0.100
Biomarker
disease
HPO
×
Entrez Id:
4567
Gene Symbol:
TRNL1
TRNL1
0.100
Biomarker
disease
HPO
×
Entrez Id:
11284
Gene Symbol:
PNKP
PNKP
0.100
Biomarker
disease
HPO
SLC25A22
0.100
Biomarker
disease
HPO
×
Entrez Id:
4761
Gene Symbol:
NEUROD2
NEUROD2
0.100
Biomarker
disease
HPO
×
Entrez Id:
4508
Gene Symbol:
ATP6
ATP6
0.100
Biomarker
disease
HPO
×
Entrez Id:
9091
Gene Symbol:
PIGQ
PIGQ
0.100
Biomarker
disease
HPO
×
Entrez Id:
3736
Gene Symbol:
KCNA1
KCNA1
0.100
Biomarker
disease
HPO
×
Entrez Id:
4541
Gene Symbol:
ND6
ND6
0.100
Biomarker
disease
HPO
×
Entrez Id:
80704
Gene Symbol:
SLC19A3
SLC19A3
0.100
Biomarker
disease
HPO
×
Entrez Id:
2775
Gene Symbol:
GNAO1
GNAO1
0.100
Biomarker
disease
HPO
×
Entrez Id:
4577
Gene Symbol:
TRNV
TRNV
0.100
Biomarker
disease
HPO
×
Entrez Id:
3458
Gene Symbol:
IFNG
IFNG
0.100
Biomarker
disease
HPO
×
Entrez Id:
221692
Gene Symbol:
PHACTR1
PHACTR1
0.410
GeneticVariation
disease
BEFREE
(Asn479Ile )] in PHACTR1 , encoding a molecule critical for the regulation of protein phosphatase 1 (PP1) and the actin cytoskeleton, in unrelated Japanese individuals with West syndrome (infantile spasms with intellectual disability).
30256902
2018
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
0.010
GeneticVariation
disease
BEFREE
(Asn479Ile )] in PHACTR1, encoding a molecule critical for the regulation of protein phosphatase 1 (PP1) and the actin cytoskeleton, in unrelated Japanese individuals with West syndrome (infantile spasms with intellectual disability).
30256902
2018