Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.670 Biomarker GENOMICS_ENGLAND

Entrez Id: 55690
Gene Symbol: PACS1
PACS1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.440 Biomarker GENOMICS_ENGLAND

Entrez Id: 7204
Gene Symbol: TRIO
TRIO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 Biomarker GENOMICS_ENGLAND

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker GENOMICS_ENGLAND

Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker GENOMICS_ENGLAND

Entrez Id: 51322
Gene Symbol: WAC
WAC
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.350 Biomarker GENOMICS_ENGLAND

Entrez Id: 27315
Gene Symbol: PGAP2
PGAP2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.330 Biomarker GENOMICS_ENGLAND

Entrez Id: 1656
Gene Symbol: DDX6
DDX6
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 55074
Gene Symbol: OXR1
OXR1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 200424
Gene Symbol: TET3
TET3
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 64216
Gene Symbol: TFB2M
TFB2M
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 390168
Gene Symbol: OR5M1
OR5M1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 51294
Gene Symbol: PCDH12
PCDH12
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 3149
Gene Symbol: HMGB3
HMGB3
CUI: C3714756
Disease: Intellectual Disability
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: 2555
Gene Symbol: GABRA2
GABRA2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker GENOMICS_ENGLAND Amino acid uptake by the mammary gland of the lactating ewe. 678219

1978
Entrez Id: 4929
Gene Symbol: NR4A2
NR4A2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker GENOMICS_ENGLAND [Transudative bile peritonitis in the elderly]. 516625

1979
Entrez Id: 11198
Gene Symbol: SUPT16H
SUPT16H
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker GENOMICS_ENGLAND The oral hypoglycemic controversy. Stay as sweet as you are. 106193

1979
Entrez Id: 55275
Gene Symbol: VPS53
VPS53
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker GENOMICS_ENGLAND The acute presentation of intestinal nonrotation. 2920088

1989
Entrez Id: 79649
Gene Symbol: MAP7D3
MAP7D3
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker GENOMICS_ENGLAND [Research in mixed amalgam-composite restorations]. 2635020

1989
Entrez Id: 760
Gene Symbol: CA2
CA2
CUI: C3714756
Disease: Intellectual Disability
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: 2517
Gene Symbol: FUCA1
FUCA1
CUI: C3714756
Disease: Intellectual Disability
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: 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