×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
Intellectual Disability
0.670
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
55690
Gene Symbol:
PACS1
PACS1
Intellectual Disability
0.440
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
7204
Gene Symbol:
TRIO
TRIO
Intellectual Disability
0.420
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Intellectual Disability
0.400
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
5813
Gene Symbol:
PURA
PURA
Intellectual Disability
0.400
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
51322
Gene Symbol:
WAC
WAC
Intellectual Disability
0.350
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
27315
Gene Symbol:
PGAP2
PGAP2
Intellectual Disability
0.330
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
1656
Gene Symbol:
DDX6
DDX6
Intellectual Disability
0.310
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
55074
Gene Symbol:
OXR1
OXR1
Intellectual Disability
0.310
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
200424
Gene Symbol:
TET3
TET3
Intellectual Disability
0.300
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
55904
Gene Symbol:
KMT2E
KMT2E
Intellectual Disability
0.300
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
64216
Gene Symbol:
TFB2M
TFB2M
Intellectual Disability
0.300
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
390168
Gene Symbol:
OR5M1
OR5M1
Intellectual Disability
0.300
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
51294
Gene Symbol:
PCDH12
PCDH12
Intellectual Disability
0.300
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
11198
Gene Symbol:
SUPT16H
SUPT16H
Intellectual Disability
0.310
Biomarker
GENOMICS_ENGLAND
The oral hypoglycemic controversy. Stay as sweet as you are.
106193
1979
×
Entrez Id:
4929
Gene Symbol:
NR4A2
NR4A2
Intellectual Disability
0.310
Biomarker
GENOMICS_ENGLAND
[Transudative bile peritonitis in the elderly].
516625
1979
×
Entrez Id:
2555
Gene Symbol:
GABRA2
GABRA2
Intellectual Disability
0.300
Biomarker
GENOMICS_ENGLAND
Amino acid uptake by the mammary gland of the lactating ewe.
678219
1978
×
Entrez Id:
2517
Gene Symbol:
FUCA1
FUCA1
Intellectual Disability
0.400
Biomarker
GENOMICS_ENGLAND
A mutation generating a stop codon in the alpha-L-fucosidase gene of a fucosidosis patient.
1281988
1992
×
Entrez Id:
760
Gene Symbol:
CA2
CA2
Intellectual Disability
0.430
Biomarker
GENOMICS_ENGLAND
Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His----Tyr): complete structure of the normal human CA II gene.
1928091
1991
×
Entrez Id:
79649
Gene Symbol:
MAP7D3
MAP7D3
Intellectual Disability
0.300
Biomarker
GENOMICS_ENGLAND
[Research in mixed amalgam-composite restorations].
2635020
1989
×
Entrez Id:
55275
Gene Symbol:
VPS53
VPS53
Intellectual Disability
0.300
Biomarker
GENOMICS_ENGLAND
The acute presentation of intestinal nonrotation.
2920088
1989
×
Entrez Id:
3149
Gene Symbol:
HMGB3
HMGB3
Intellectual Disability
0.400
Biomarker
GENOMICS_ENGLAND
X-linked colobomatous microphthalmos and other congenital anomalies. A disorder resembling Lenz's dysmorphogenetic syndrome.
4998085
1971
×
Entrez Id:
2593
Gene Symbol:
GAMT
GAMT
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
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
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