Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 2593
Gene Symbol: GAMT
GAMT
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.600 Biomarker GENOMICS_ENGLAND Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. 8651275

1996

Entrez Id: 7372
Gene Symbol: UMPS
UMPS
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.300 Biomarker GENOMICS_ENGLAND Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families. 9042911

1997

Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.300 Biomarker GENOMICS_ENGLAND Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency. 11129331

2000

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: 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: 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: 64219
Gene Symbol: PJA1
PJA1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.300 Biomarker GENOMICS_ENGLAND Identification of genes expressed in the amygdala during the formation of fear memory. 11533224

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: 11279
Gene Symbol: KLF8
KLF8
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.310 Biomarker GENOMICS_ENGLAND Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation. 11836360

2002

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: 8724
Gene Symbol: SNX3
SNX3
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.300 Biomarker GENOMICS_ENGLAND Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype. 12471201

2002

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: 58499
Gene Symbol: ZNF462
ZNF462
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.310 Biomarker GENOMICS_ENGLAND Temtamy-like syndrome associated with translocation of 2p24 and 9q32. 14564155

2003

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: 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: 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: 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: 4330
Gene Symbol: MN1
MN1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.310 Biomarker GENOMICS_ENGLAND Targeted disruption of the Mn1 oncogene results in severe defects in development of membranous bones of the cranial skeleton. 15870292

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: 2530
Gene Symbol: FUT8
FUT8
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 Biomarker GENOMICS_ENGLAND Core fucosylation of N-linked glycans in leukocyte adhesion deficiency/congenital disorder of glycosylation IIc fibroblasts. 15917429

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