Source: CTD_human

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 84735
Gene Symbol: CNDP1
CNDP1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.300 Biomarker CTD_human Histopathology of the nervous system in carnosinase enzyme deficiency with mental retardation. 4673339

1972

Entrez Id: 84735
Gene Symbol: CNDP1
CNDP1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.300 Biomarker CTD_human Serum carnosinase deficiency concomitant with mental retardation. 4718759

1973

Entrez Id: 324
Gene Symbol: APC
APC
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.310 Biomarker CTD_human Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion. 8071957

1994

Entrez Id: 4163
Gene Symbol: MCC
MCC
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.300 Biomarker CTD_human Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion. 8071957

1994

Entrez Id: 627
Gene Symbol: BDNF
BDNF
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 Biomarker CTD_human Neonatal concentrations of VIP, CGRP, BDNF, and NT4/5 were higher (ANOVA, all p values < 0.0001 by Scheffe test for pairwise differences) in children in the autistic spectrum and in those with mental retardation without autism than in control children. 11357950

2001

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.450 Biomarker CTD_human PTEN mutation in a family with Cowden syndrome and autism. 11496368

2001

Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.410 Biomarker CTD_human Genetic variation of the extra-large stimulatory G protein alpha-subunit leads to Gs hyperfunction in platelets and is a risk factor for bleeding. 11583302

2001

Entrez Id: 796
Gene Symbol: CALCA
CALCA
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.300 Biomarker CTD_human In archived neonatal blood of children with autistic spectrum disorders (n = 69), mental retardation without autism (n = 60), or cerebral palsy (CP, n = 63) and of control children (n = 54), we used recycling immunoaffinity chromatography to measure the neuropeptides substance P (SP), vasoactive intestinal peptide (VIP), pituitary adenylate cyclase-activating polypeptide (PACAP), calcitonin gene-related peptide (CGRP), and the neurotrophins nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), neurotrophin 3 (NT3), and neurotrophin 4/5 (NT4/5). 11357950

2001

Entrez Id: 7432
Gene Symbol: VIP
VIP
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.300 Biomarker CTD_human Neonatal concentrations of VIP, CGRP, BDNF, and NT4/5 were higher (ANOVA, all p values < 0.0001 by Scheffe test for pairwise differences) in children in the autistic spectrum and in those with mental retardation without autism than in control children. 11357950

2001

Entrez Id: 4909
Gene Symbol: NTF4
NTF4
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.300 Biomarker CTD_human In archived neonatal blood of children with autistic spectrum disorders (n = 69), mental retardation without autism (n = 60), or cerebral palsy (CP, n = 63) and of control children (n = 54), we used recycling immunoaffinity chromatography to measure the neuropeptides substance P (SP), vasoactive intestinal peptide (VIP), pituitary adenylate cyclase-activating polypeptide (PACAP), calcitonin gene-related peptide (CGRP), and the neurotrophins nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), neurotrophin 3 (NT3), and neurotrophin 4/5 (NT4/5). 11357950

2001

Entrez Id: 6309
Gene Symbol: SC5D
SC5D
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.510 Biomarker CTD_human Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase. 12189593

2002

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.450 Biomarker CTD_human Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases. 14574156

2003

Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.440 Biomarker CTD_human Interestingly, mental retardation was consistently more severe in patients with NSD1 deletions. 12807965

2003

Entrez Id: 10752
Gene Symbol: CHL1
CHL1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.320 Biomarker CTD_human This suggests that the CALL gene at 3p26.3 is a prime candidate for an autosomal form of mental retardation. 12812975

2003

Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 Biomarker CTD_human Although uncommon, point mutations in the FMR1 gene may be a cause of autism and mental retardation in Japanese patients. 15000256

2004

Entrez Id: 3954
Gene Symbol: LETM1
LETM1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.320 Biomarker CTD_human The leucine zipper-, EF-hand-containing transmembrane protein 1 (LETM1) has recently been cloned in an attempt to identify genes deleted in Wolf-Hirschhorn syndrome (WHS), a microdeletion syndrome characterized by severe growth and mental retardation, hypotonia, seizures, and typical facial dysmorphic features. 14706454

2004

Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.600 Biomarker CTD_human Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation. 15651030

2005

Entrez Id: 26128
Gene Symbol: KIFBP
KIFBP
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 Biomarker CTD_human Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. 15883926

2005

Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.670 Biomarker CTD_human Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation. 16236810

2006

Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 Biomarker CTD_human Three cases with a common breakpoint within SHANK3 share a number of common phenotypic features, such as mental retardation and developmental delay with severely delayed or absent expressive speech. 16284256

2006

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.410 Biomarker CTD_human Syndromic craniosynostosis with elbow joint contracture. 16465081

2006

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.450 Biomarker CTD_human Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. 17427195

2007

Entrez Id: 64220
Gene Symbol: STRA6
STRA6
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.420 Biomarker CTD_human Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. 17273977

2007

Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 Biomarker CTD_human Pax6 3' deletion results in aniridia, autism and mental retardation. 18322702

2008

Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.410 Biomarker CTD_human A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features. 18627055

2008