Source: HPO

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8021
Gene Symbol: NUP214
NUP214
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.400 Biomarker HPO

Entrez Id: 7343
Gene Symbol: UBTF
UBTF
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.400 Biomarker HPO

Entrez Id: 8869
Gene Symbol: ST3GAL5
ST3GAL5
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.400 Biomarker HPO

Entrez Id: 54936
Gene Symbol: ADPRS
ADPRS
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.400 Biomarker HPO

Entrez Id: 774
Gene Symbol: CACNA1B
CACNA1B
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.400 Biomarker HPO

Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.130 Biomarker HPO

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.120 Biomarker HPO

Entrez Id: 410
Gene Symbol: ARSA
ARSA
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.110 Biomarker HPO

Entrez Id: 2348
Gene Symbol: FOLR1
FOLR1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.110 Biomarker HPO

Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.110 Biomarker HPO

Entrez Id: 388962
Gene Symbol: BOLA3
BOLA3
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.110 Biomarker HPO

Entrez Id: 23334
Gene Symbol: SZT2
SZT2
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.110 Biomarker HPO

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