Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 10743
Gene Symbol: RAI1
RAI1 		0.300 Biomarker disease CTD_human Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay. 19752160 2010
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: 8364
Gene Symbol: H4C3
H4C3 		0.300 Biomarker disease CTD_human Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control. 28920961 2017
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
Entrez Id: 80155
Gene Symbol: NAA15
NAA15 		0.300 Biomarker disease CTD_human Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
Entrez Id: 55596
Gene Symbol: ZCCHC8
ZCCHC8 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 84320
Gene Symbol: ACBD6
ACBD6 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 84274
Gene Symbol: COQ5
COQ5 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 5582
Gene Symbol: PRKCG
PRKCG 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		0.300 Biomarker disease CTD_human Spectrum of NSD1 mutations in Sotos and Weaver syndromes. 12807965 2003
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1 		0.300 Biomarker disease CTD_human A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha. 18057082 2008
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 84735
Gene Symbol: CNDP1
CNDP1 		0.300 Biomarker disease CTD_human Histopathology of the nervous system in carnosinase enzyme deficiency with mental retardation. 4673339 1972
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 55250
Gene Symbol: ELP2
ELP2 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 9179
Gene Symbol: AP4M1
AP4M1 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 80781
Gene Symbol: COL18A1
COL18A1 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 8575
Gene Symbol: PRKRA
PRKRA 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 49855
Gene Symbol: SCAPER
SCAPER 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 2593
Gene Symbol: GAMT
GAMT 		0.300 Biomarker disease CTD_human Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation. 15651030 2005
Entrez Id: 131669
Gene Symbol: UROC1
UROC1 		0.300 Biomarker disease CTD_human Mutations in the urocanase gene UROC1 are associated with urocanic aciduria. 19304569 2009