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: 18
Gene Symbol: ABAT
ABAT
4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.400 None 1.000 0 0 1999 2010
Entrez Id: 6314
Gene Symbol: ATXN7
ATXN7
ataxin 7 0.581 0.654 0.96
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.400 None 1.000 0 0 2014 2014
Entrez Id: 57082
Gene Symbol: KNL1
KNL1
kinetochore scaffold 1 0.644 0.615 0.78
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 57165
Gene Symbol: GJC2
GJC2
gap junction protein gamma 2 0.593 0.692 1.0E-02
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 57192
Gene Symbol: MCOLN1
MCOLN1
mucolipin 1 0.601 0.654 5.8E-04
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 57338
Gene Symbol: JPH3
JPH3
junctophilin 3 0.608 0.538 1.00
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 57410
Gene Symbol: SCYL1
SCYL1
SCY1 like pseudokinase 1 0.582 0.769 2.5E-08
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 57462
Gene Symbol: MYORG
MYORG
myogenesis regulating glycosidase (putative) 0.805 0.269 1.1E-11
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220
kinase D interacting substrate 220 0.534 0.769 7.4E-02
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 57570
Gene Symbol: TRMT5
TRMT5
tRNA methyltransferase 5 0.769 0.231 5.0E-02
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 57670
Gene Symbol: KIAA1549
KIAA1549
KIAA1549 0.615 0.346 0.99
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
alsin Rho guanine nucleotide exchange factor ALS2 0.647 0.423 8.7E-12
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 57697
Gene Symbol: FANCM
FANCM
FA complementation group M 0.543 0.731 2.4E-15
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 57704
Gene Symbol: GBA2
GBA2
glucosylceramidase beta 2 0.636 0.654 2.0E-20
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 57709
Gene Symbol: SLC7A14
SLC7A14
solute carrier family 7 member 14 0.695 0.308 2.2E-02
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 55835
Gene Symbol: CENPJ
CENPJ
centromere protein J 0.546 0.846 2.1E-27
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 57017
Gene Symbol: COQ9
COQ9
coenzyme Q9 0.700 0.423 5.5E-06
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 55857
Gene Symbol: KIZ
KIZ
kizuna centrosomal protein 0.722 0.308
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 55967
Gene Symbol: NDUFA12
NDUFA12
NADH:ubiquinone oxidoreductase subunit A12 0.659 0.462 7.4E-05
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
kelch like family member 7 0.581 0.731 4.6E-05
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
prion protein 0.445 0.923 6.3E-04
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 5630
Gene Symbol: PRPH
PRPH
peripherin 0.623 0.462 4.8E-14
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 5654
Gene Symbol: HTRA1
HTRA1
HtrA serine peptidase 1 0.532 0.692 4.9E-04
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 5660
Gene Symbol: PSAP
PSAP
prosaposin 0.532 0.846 0.99
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0