Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 132
Gene Symbol: ADK
ADK
0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 151
Gene Symbol: ADRA2B
ADRA2B
0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 186
Gene Symbol: AGTR2
AGTR2
0.010 GeneticVariation disease BEFREE The patients with AGTR2 sequence variants had severe/profound mental retardation, epileptic seizures, restlessness, hyperactivity, and disturbed development of speech. 14598163 2004
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
0.300 Biomarker disease CTD_human A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family. 23825041 2013
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1
0.010 Biomarker disease BEFREE βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy. 29861105 2018
Entrez Id: 23431
Gene Symbol: AP4E1
AP4E1
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: 324
Gene Symbol: APC
APC
0.300 Biomarker disease CTD_human Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion. 8071957 1994
Entrez Id: 120534
Gene Symbol: ARL14EP
ARL14EP
0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 10973
Gene Symbol: ASCC3
ASCC3
0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 429
Gene Symbol: ASCL1
ASCL1
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: 627
Gene Symbol: BDNF
BDNF
0.300 Biomarker disease CTD_human Neuropeptides and neurotrophins in neonatal blood of children with autism or mental retardation. 11357950 2001
Entrez Id: 128408
Gene Symbol: BHLHE23
BHLHE23
0.010 Biomarker disease BEFREE βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy. 29861105 2018
Entrez Id: 113246
Gene Symbol: C12orf57
C12orf57
0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 767
Gene Symbol: CA8
CA8
0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 8913
Gene Symbol: CACNA1G
CACNA1G
0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 796
Gene Symbol: CALCA
CALCA
0.300 Biomarker disease CTD_human Neuropeptides and neurotrophins in neonatal blood of children with autism or mental retardation. 11357950 2001
Entrez Id: 11132
Gene Symbol: CAPN10
CAPN10
0.300 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: 147372
Gene Symbol: CCBE1
CCBE1
0.300 Biomarker disease CTD_human Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. 19935664 2009
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: 952
Gene Symbol: CD38
CD38
0.010 Biomarker disease BEFREE A girl with a 46,X,t(X;21) (q13.3;p11.1) karyotype presented with skin redundancy, especially in the neck, prominent occiput and micrognathia, and later developed hypotonia, hypopigmentation, sparse scalp hair, and profound mental retardation characteristic of Menkes disease. 9788559 1998