Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
Entrez Id: 134728
Gene Symbol: IRAK1BP1
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