Source: HPO

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23236
Gene Symbol: PLCB1
PLCB1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker HPO

Entrez Id: 191
Gene Symbol: AHCY
AHCY
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker HPO

Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker HPO

Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker HPO

Entrez Id: 23345
Gene Symbol: SYNE1
SYNE1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker HPO

Entrez Id: 27030
Gene Symbol: MLH3
MLH3
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker HPO

Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker HPO

Entrez Id: 55788
Gene Symbol: LMBRD1
LMBRD1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker HPO

Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker HPO

Entrez Id: 8892
Gene Symbol: EIF2B2
EIF2B2
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker HPO

Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker HPO

Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker HPO

Entrez Id: 1203
Gene Symbol: CLN5
CLN5
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker HPO

Entrez Id: 7305
Gene Symbol: TYROBP
TYROBP
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker HPO

Entrez Id: 2512
Gene Symbol: FTL
FTL
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker HPO

Entrez Id: 4668
Gene Symbol: NAGA
NAGA
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker HPO

Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker HPO

Entrez Id: 8302
Gene Symbol: KLRC4
KLRC4
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker HPO

Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker HPO

Entrez Id: 4513
Gene Symbol: COX2
COX2
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker HPO

Entrez Id: 60684
Gene Symbol: TRAPPC11
TRAPPC11
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker HPO

Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker HPO

Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker HPO

Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker HPO

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker HPO