Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 84735
Gene Symbol: CNDP1
CNDP1
0.300 Biomarker disease CTD_human Serum carnosinase deficiency concomitant with mental retardation. 4718759 1973
Entrez Id: 4163
Gene Symbol: MCC
MCC
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: 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: 2481
Gene Symbol: FRAXE
FRAXE
0.010 GeneticVariation disease BEFREE These results suggest that FRAXE GCC-repeat expansion is not a common cause of developmental disability in institutionalized persons with mild to profound mental retardation. 8844096 1996
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
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
0.300 Biomarker disease 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: 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: 4909
Gene Symbol: NTF4
NTF4
0.300 Biomarker disease CTD_human Neuropeptides and neurotrophins in neonatal blood of children with autism or mental retardation. 11357950 2001
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: 5728
Gene Symbol: PTEN
PTEN
0.300 Biomarker disease CTD_human PTEN mutation in a family with Cowden syndrome and autism. 11496368 2001
Entrez Id: 7432
Gene Symbol: VIP
VIP
0.300 Biomarker disease CTD_human Neuropeptides and neurotrophins in neonatal blood of children with autism or mental retardation. 11357950 2001
Entrez Id: 6309
Gene Symbol: SC5D
SC5D
0.300 Biomarker disease CTD_human Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase. 12189593 2002
Entrez Id: 57799
Gene Symbol: RAB40C
RAB40C
0.010 GeneticVariation disease BEFREE The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation. 12145744 2002
Entrez Id: 6638
Gene Symbol: SNRPN
SNRPN
0.010 Biomarker disease BEFREE The molecular investigation of 75 institutionalized individuals with severe to profound mental retardation resulted in the detection of 1 case with an abnormal methylation pattern of the SNRPN gene, corresponding to AS. 12215253 2002
Entrez Id: 282808
Gene Symbol: RAB40AL
RAB40AL
0.010 Biomarker disease BEFREE We speculate that disruption of RLGP was responsible for the patient's profound mental retardation. 12145744 2002
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: 5728
Gene Symbol: PTEN
PTEN
0.300 Biomarker disease CTD_human Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases. 14574156 2003
Entrez Id: 10752
Gene Symbol: CHL1
CHL1
0.300 Biomarker disease CTD_human CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behavior. 12812975 2003
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
0.300 Biomarker disease CTD_human Single-strand conformation polymorphism analysis of the FMR1 gene in autistic and mentally retarded children in Japan. 15000256 2004
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
0.300 Biomarker disease CTD_human LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein. 14706454 2004
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: 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: 26128
Gene Symbol: KIFBP
KIFBP
0.300 Biomarker disease CTD_human Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. 15883926 2005
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
0.320 Biomarker disease CTD_human Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. 16284256 2006