×
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