×
Entrez Id:
55777
Gene Symbol:
MBD5
MBD5
0.110
Biomarker
phenotype
BEFREE
MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes.
25271084
2015
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
0.110
Biomarker
phenotype
HPO
×
Entrez Id:
120892
Gene Symbol:
LRRK2
LRRK2
0.110
GeneticVariation
phenotype
BEFREE
Neuropsychiatric, dysautonomic and sleep disturbances occur as frequently in patients with LRRK2 -G2019S -PD as in IPD but smell loss was less frequent in LRRK2-PD.
25330404
2014
×
Entrez Id:
5621
Gene Symbol:
PRNP
PRNP
0.110
GeneticVariation
phenotype
BEFREE
A missense mutation in codon 200 (E200K ) of the PRNP was identified in this patient; CSF 14-3-3 protein was positive; sleep disturbance was the initial sign and the other symptoms gradually appeared, including memory loss, dizziness and ataxia.
20514992
2010
×
Entrez Id:
2290
Gene Symbol:
FOXG1
FOXG1
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
126
Gene Symbol:
ADH1C
ADH1C
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
9091
Gene Symbol:
PIGQ
PIGQ
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
124512
Gene Symbol:
METTL23
METTL23
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
9091
Gene Symbol:
PIGQ
PIGQ
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
9101
Gene Symbol:
USP8
USP8
0.100
Biomarker
phenotype
HPO
IRAK1BP1
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
2009
Gene Symbol:
EML1
EML1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
6197
Gene Symbol:
RPS6KA3
RPS6KA3
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
57680
Gene Symbol:
CHD8
CHD8
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
150094
Gene Symbol:
SIK1
SIK1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
84896
Gene Symbol:
ATAD1
ATAD1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
443
Gene Symbol:
ASPA
ASPA
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
166378
Gene Symbol:
SPATA5
SPATA5
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
10243
Gene Symbol:
GPHN
GPHN
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
9627
Gene Symbol:
SNCAIP
SNCAIP
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
28960
Gene Symbol:
DCPS
DCPS
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
7466
Gene Symbol:
WFS1
WFS1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
9915
Gene Symbol:
ARNT2
ARNT2
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.100
GeneticVariation
phenotype
CLINVAR
×
Entrez Id:
55737
Gene Symbol:
VPS35
VPS35
0.100
Biomarker
phenotype
HPO