Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
0.400 GeneticVariation phenotype CLINVAR
Entrez Id: 11154
Gene Symbol: AP4S1
AP4S1
0.300 Biomarker phenotype GENOMICS_ENGLAND
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.190 GeneticVariation phenotype CLINVAR
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.190 CausalMutation phenotype CLINVAR
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.180 CausalMutation phenotype CLINVAR
Entrez Id: 1801
Gene Symbol: DPH1
DPH1
0.140 GeneticVariation phenotype CLINVAR
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
0.130 GeneticVariation phenotype CLINVAR
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A
0.130 GeneticVariation phenotype CLINVAR
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A
0.130 CausalMutation phenotype CLINVAR
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
0.110 GeneticVariation phenotype CLINVAR
Entrez Id: 8021
Gene Symbol: NUP214
NUP214
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 585
Gene Symbol: BBS4
BBS4
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 9611
Gene Symbol: NCOR1
NCOR1
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 6328
Gene Symbol: SCN3A
SCN3A
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 104472715
Gene Symbol: SNHG14
SNHG14
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 104472715
Gene Symbol: SNHG14
SNHG14
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 145508
Gene Symbol: CEP128
CEP128
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 22884
Gene Symbol: WDR37
WDR37
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 9179
Gene Symbol: AP4M1
AP4M1
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 3458
Gene Symbol: IFNG
IFNG
0.020 AlteredExpression phenotype BEFREE <b>Conclusions</b>: Being sexually abused in the context of emotional abuse and neglect is related to an increase in activation of the left IFG, which may indicate a delayed development of mirroring other people's thoughts and emotions. 28326160 2017
Entrez Id: 23531
Gene Symbol: MMD
MMD
0.010 Biomarker phenotype BEFREE <b>Methods:</b> We reviewed the literature for MMA patients undergoing LT/CKLT published since 2006, and data on metabolic decompensation status, protein dietary, neurological damage, renal insufficiency, and developmental delay before and after transplantations were compared to evaluate the clinical value of the procedure in the treatment of MMA. 30949461 2019
Entrez Id: 9061
Gene Symbol: PAPSS1
PAPSS1
0.010 Biomarker phenotype BEFREE <i>In vivo</i>, PAPSS1 suppression and low-dose cisplatin treatment inhibited proliferation of lung tumor cells in zebrafish xenografts and significantly delayed development of subcutaneous tumors in mice. 28790117 2017
Entrez Id: 55777
Gene Symbol: MBD5
MBD5
0.020 GeneticVariation phenotype BEFREE 2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features. 21271666 2011