Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
0.010 GeneticVariation disease BEFREE Co-occurrence of mutations in FOXP1 and PTCH1 in a girl with extreme megalencephaly, callosal dysgenesis and profound intellectual disability. 30181650 2018
Entrez Id: 22941
Gene Symbol: SHANK2
SHANK2
0.310 GeneticVariation disease BEFREE Copy-number variants and truncating mutations in SHANK genes were present in ∼1% of patients with ASD: mutations in SHANK1 were rare (0.04%) and present in males with normal IQ and autism; mutations in SHANK2 were present in 0.17% of patients with ASD and mild intellectual disability; mutations in SHANK3 were present in 0.69% of patients with ASD and up to 2.12% of the cases with moderate to profound intellectual disability. 25188300 2014
Entrez Id: 50944
Gene Symbol: SHANK1
SHANK1
0.010 GeneticVariation disease BEFREE Copy-number variants and truncating mutations in SHANK genes were present in ∼1% of patients with ASD: mutations in SHANK1 were rare (0.04%) and present in males with normal IQ and autism; mutations in SHANK2 were present in 0.17% of patients with ASD and mild intellectual disability; mutations in SHANK3 were present in 0.69% of patients with ASD and up to 2.12% of the cases with moderate to profound intellectual disability. 25188300 2014
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
0.320 GeneticVariation disease BEFREE Copy-number variants and truncating mutations in SHANK genes were present in ∼1% of patients with ASD: mutations in SHANK1 were rare (0.04%) and present in males with normal IQ and autism; mutations in SHANK2 were present in 0.17% of patients with ASD and mild intellectual disability; mutations in SHANK3 were present in 0.69% of patients with ASD and up to 2.12% of the cases with moderate to profound intellectual disability. 25188300 2014
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
0.300 Biomarker disease CTD_human De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627 2015
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
0.300 Biomarker disease CTD_human De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 20436468 2010
Entrez Id: 81704
Gene Symbol: DOCK8
DOCK8
0.300 Biomarker disease CTD_human Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities. 18060736 2008
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
0.310 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 835
Gene Symbol: CASP2
CASP2
0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 116115
Gene Symbol: ZNF526
ZNF526
0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 56270
Gene Symbol: WDR45B
WDR45B
0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 23135
Gene Symbol: KDM6B
KDM6B
0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 890
Gene Symbol: CCNA2
CCNA2
0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 2194
Gene Symbol: FASN
FASN
0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 55180
Gene Symbol: LINS1
LINS1
0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 55212
Gene Symbol: BBS7
BBS7
0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 5927
Gene Symbol: KDM5A
KDM5A
0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 11253
Gene Symbol: MAN1B1
MAN1B1
0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 79644
Gene Symbol: SRD5A3
SRD5A3
0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 8290
Gene Symbol: H3-4
H3-4
0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 142
Gene Symbol: PARP1
PARP1
0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 10256
Gene Symbol: CNKSR1
CNKSR1
0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 2348
Gene Symbol: FOLR1
FOLR1
0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011