Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 100131208
Gene Symbol: SNAP25-AS1
SNAP25-AS1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 6616
Gene Symbol: SNAP25
SNAP25 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 84735
Gene Symbol: CNDP1
CNDP1 		0.300 Biomarker phenotype 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 phenotype CTD_human Serum carnosinase deficiency concomitant with mental retardation. 4718759 1973
Entrez Id: 324
Gene Symbol: APC
APC 		0.300 Biomarker phenotype 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 		0.300 Biomarker phenotype 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 		0.300 Biomarker phenotype CTD_human Neuropeptides and neurotrophins in neonatal blood of children with autism or mental retardation. 11357950 2001
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		0.300 Biomarker phenotype 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: 5728
Gene Symbol: PTEN
PTEN 		0.300 Biomarker phenotype CTD_human PTEN mutation in a family with Cowden syndrome and autism. 11496368 2001
Entrez Id: 796
Gene Symbol: CALCA
CALCA 		0.300 Biomarker phenotype CTD_human Neuropeptides and neurotrophins in neonatal blood of children with autism or mental retardation. 11357950 2001
Entrez Id: 7432
Gene Symbol: VIP
VIP 		0.300 Biomarker phenotype 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 phenotype 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 phenotype 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 		0.300 Biomarker phenotype 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 		0.300 Biomarker phenotype CTD_human Spectrum of NSD1 mutations in Sotos and Weaver syndromes. 12807965 2003
Entrez Id: 10752
Gene Symbol: CHL1
CHL1 		0.300 Biomarker phenotype 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: 3954
Gene Symbol: LETM1
LETM1 		0.300 Biomarker phenotype CTD_human LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein. 14706454 2004
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		0.300 Biomarker phenotype CTD_human Single-strand conformation polymorphism analysis of the FMR1 gene in autistic and mentally retarded children in Japan. 15000256 2004
Entrez Id: 2593
Gene Symbol: GAMT
GAMT 		0.300 Biomarker phenotype 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 phenotype 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 		0.300 Biomarker phenotype 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 		0.300 Biomarker phenotype CTD_human Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. 16284256 2006
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.300 Biomarker phenotype CTD_human Syndromic craniosynostosis with elbow joint contracture. 16465081 2006
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.300 Biomarker phenotype 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 		0.300 Biomarker phenotype 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