Source: HPO

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 HPO

Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.650 Biomarker HPO

Entrez Id: 80155
Gene Symbol: NAA15
NAA15
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.630 Biomarker HPO

Entrez Id: 11160
Gene Symbol: ERLIN2
ERLIN2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.610 Biomarker HPO

Entrez Id: 3340
Gene Symbol: NDST1
NDST1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.610 Biomarker HPO

Entrez Id: 55023
Gene Symbol: PHIP
PHIP
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.610 Biomarker HPO

Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.600 Biomarker HPO

Entrez Id: 7528
Gene Symbol: YY1
YY1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.600 Biomarker HPO

Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 Biomarker HPO

Entrez Id: 627
Gene Symbol: BDNF
BDNF
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 Biomarker HPO

Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 Biomarker HPO

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 Biomarker HPO

Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 Biomarker HPO

Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 Biomarker HPO

Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 Biomarker HPO

Entrez Id: 57680
Gene Symbol: CHD8
CHD8
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.490 Biomarker HPO

Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.480 Biomarker HPO

Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 Biomarker HPO

Entrez Id: 23040
Gene Symbol: MYT1L
MYT1L
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 Biomarker HPO

Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 Biomarker HPO

Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 Biomarker HPO

Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 Biomarker HPO

Entrez Id: 51317
Gene Symbol: PHF21A
PHF21A
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 Biomarker HPO

Entrez Id: 51114
Gene Symbol: ZDHHC9
ZDHHC9
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.460 Biomarker HPO

Entrez Id: 116442
Gene Symbol: RAB39B
RAB39B
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.460 Biomarker HPO