Source: HPO

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.400 Biomarker HPO

Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.400 Biomarker HPO

Entrez Id: 7468
Gene Symbol: NSD2
NSD2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.400 Biomarker HPO

Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.110 Biomarker HPO

Entrez Id: 9581
Gene Symbol: PREPL
PREPL
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.110 Biomarker HPO

Entrez Id: 5250
Gene Symbol: SLC25A3
SLC25A3
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.110 Biomarker HPO

Entrez Id: 2731
Gene Symbol: GLDC
GLDC
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.110 Biomarker HPO

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.110 Biomarker HPO

Entrez Id: 9702
Gene Symbol: CEP57
CEP57
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 Biomarker HPO

Entrez Id: 23189
Gene Symbol: KANK1
KANK1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 Biomarker HPO

Entrez Id: 650
Gene Symbol: BMP2
BMP2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 Biomarker HPO

Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 Biomarker HPO

Entrez Id: 4633
Gene Symbol: MYL2
MYL2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 Biomarker HPO

Entrez Id: 10128
Gene Symbol: LRPPRC
LRPPRC
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 Biomarker HPO

Entrez Id: 9657
Gene Symbol: IQCB1
IQCB1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 Biomarker HPO

Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 Biomarker HPO

Entrez Id: 120227
Gene Symbol: CYP2R1
CYP2R1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 Biomarker HPO

Entrez Id: 6496
Gene Symbol: SIX3
SIX3
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 Biomarker HPO

Entrez Id: 6341
Gene Symbol: SCO1
SCO1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 Biomarker HPO

Entrez Id: 6601
Gene Symbol: SMARCC2
SMARCC2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 Biomarker HPO

Entrez Id: 7421
Gene Symbol: VDR
VDR
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 Biomarker HPO

Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 Biomarker HPO

Entrez Id: 7317
Gene Symbol: UBA1
UBA1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 Biomarker HPO

Entrez Id: 254065
Gene Symbol: BRWD3
BRWD3
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 Biomarker HPO

Entrez Id: 6016
Gene Symbol: RIT1
RIT1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 Biomarker HPO