Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
myelin protein zero 0.503 0.846 0.27
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.110 None 1.000 0 0 1999 1999
Entrez Id: 4038
Gene Symbol: LRP4
LRP4
LDL receptor related protein 4 0.568 0.692 1.4E-06
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.110 None 1.000 0 0 2018 2018
Entrez Id: 8074
Gene Symbol: FGF23
FGF23
fibroblast growth factor 23 0.460 0.731 3.1E-02
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.110 None 1.000 0 0 2019 2019
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1
tRNA 0.534 0.731
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.110 None 1.000 0 0 2009 2009
Entrez Id: 55154
Gene Symbol: MSTO1
MSTO1
misato mitochondrial distribution and morphology regulator 1 0.582 0.692 1.6E-09
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.110 None 1.000 0 0 2018 2018
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
acyl-CoA dehydrogenase family member 9 0.722 0.269 4.5E-08
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.110 None 1.000 0 0 2019 2019
Entrez Id: 26092
Gene Symbol: TOR1AIP1
TOR1AIP1
torsin 1A interacting protein 1 0.729 0.346 1.3E-09
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.110 None 1.000 0 0 2020 2020
Entrez Id: 4982
Gene Symbol: TNFRSF11B
TNFRSF11B
TNF receptor superfamily member 11b 0.422 0.808 0.16
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.110 None 1.000 0 0 2019 2019
Entrez Id: 1760
Gene Symbol: DMPK
DMPK
DM1 protein kinase 0.603 0.692 3.8E-02
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.110 None 1.000 0 0 2010 2010
Entrez Id: 5922
Gene Symbol: RASA2
RASA2
RAS p21 protein activator 2 0.579 0.769 7.4E-31
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.100 None 0 0
Entrez Id: 6337
Gene Symbol: SCNN1A
SCNN1A
sodium channel epithelial 1 subunit alpha 0.601 0.577 1.1E-11
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.100 None 0 0
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
sodium channel epithelial 1 subunit beta 0.628 0.577 5.8E-08
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.100 None 0 0
Entrez Id: 6340
Gene Symbol: SCNN1G
SCNN1G
sodium channel epithelial 1 subunit gamma 0.633 0.577 0.48
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.100 None 0 0
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
succinate dehydrogenase complex flavoprotein subunit A 0.517 0.731 2.6E-10
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.100 None 0 0
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
succinate dehydrogenase complex subunit D 0.472 0.885 0.34
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.100 None 0 0
Entrez Id: 55717
Gene Symbol: WDR11
WDR11
WD repeat domain 11 0.524 0.808 1.4E-08
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.100 None 0 0
Entrez Id: 64132
Gene Symbol: XYLT2
XYLT2
xylosyltransferase 2 0.566 0.808 0.93
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.100 None 0 0
Entrez Id: 5371
Gene Symbol: PML
PML
promyelocytic leukemia 0.477 0.846 0.21
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.100 None 0 0
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
sodium voltage-gated channel alpha subunit 4 0.554 0.731 1.3E-02
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.100 None 0 0
Entrez Id: 57817
Gene Symbol: HAMP
HAMP
hepcidin antimicrobial peptide 0.433 0.846 8.2E-03
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.100 None 0 0
Entrez Id: 60386
Gene Symbol: SLC25A19
SLC25A19
solute carrier family 25 member 19 0.653 0.577 0.65
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.100 None 0 0
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
Ras like without CAAX 1 0.527 0.808 0.13
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.100 None 0 0
Entrez Id: 60675
Gene Symbol: PROK2
PROK2
prokineticin 2 0.555 0.769 1.4E-02
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.100 None 0 0
Entrez Id: 5914
Gene Symbol: RARA
RARA
retinoic acid receptor alpha 0.470 0.846 0.96
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.100 None 0 0
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 0.534 0.808 4.7E-13
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.100 None 0 0