Source: HPO

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1643
Gene Symbol: DDB2
DDB2
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker HPO

Entrez Id: 2071
Gene Symbol: ERCC3
ERCC3
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker HPO

Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker HPO

Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker HPO

Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker HPO

Entrez Id: 4536
Gene Symbol: ND2
ND2
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker HPO

Entrez Id: 7466
Gene Symbol: WFS1
WFS1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker HPO

Entrez Id: 8799
Gene Symbol: PEX11B
PEX11B
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker HPO

Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker HPO

Entrez Id: 29926
Gene Symbol: GMPPA
GMPPA
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker HPO

Entrez Id: 55315
Gene Symbol: SLC29A3
SLC29A3
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker HPO

Entrez Id: 55768
Gene Symbol: NGLY1
NGLY1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker HPO

Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker HPO

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