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: 57038
Gene Symbol: RARS2
RARS2
arginyl-tRNA synthetase 2, mitochondrial 0.663 0.462 7.7E-14
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
inositol polyphosphate-5-phosphatase E 0.561 0.615 3.1E-03
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
presenilin 1 0.469 0.846 0.97
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1
methylcrotonoyl-CoA carboxylase 1 0.700 0.308 4.0E-12
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 56947
Gene Symbol: MFF
MFF
mitochondrial fission factor 0.705 0.462 6.5E-02
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 56978
Gene Symbol: PRDM8
PRDM8
PR/SET domain 8 0.678 0.462 0.78
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
coenzyme Q8A 0.674 0.385 9.3E-11
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 5805
Gene Symbol: PTS
PTS
6-pyruvoyltetrahydropterin synthase 0.636 0.654 6.5E-06
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 5824
Gene Symbol: PEX19
PEX19
peroxisomal biogenesis factor 19 0.585 0.731 3.2E-04
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.582 0.654 2.6E-04
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 6101
Gene Symbol: RP1
RP1
RP1 axonemal microtubule associated 0.663 0.462 4.4E-13
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 6102
Gene Symbol: RP2
RP2
RP2 activator of ARL3 GTPase 0.670 0.346 0.96
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 6103
Gene Symbol: RPGR
RPGR
retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
retinoid isomerohydrolase RPE65 0.417 0.808 6.5E-14
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
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: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 6253
Gene Symbol: RTN2
RTN2
reticulon 2 0.711 0.385 0.42
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 6295
Gene Symbol: SAG
SAG
S-antigen visual arrestin 0.570 0.731 1.5E-16
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 6310
Gene Symbol: ATXN1
ATXN1
ataxin 1 0.534 0.769 0.97
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 6315
Gene Symbol: ATXN8OS
ATXN8OS
ATXN8 opposite strand lncRNA 0.650 0.423
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
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: C0151889
Disease: Hyperreflexia
Hyperreflexia
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: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
methylcrotonoyl-CoA carboxylase 2 0.674 0.423 4.5E-11
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8
solute carrier family 39 member 8 0.584 0.769 0.67
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 64218
Gene Symbol: SEMA4A
SEMA4A
semaphorin 4A 0.569 0.692 1.8E-05
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0
Entrez Id: 6100
Gene Symbol: RP9
RP9
RP9 pre-mRNA splicing factor 0.670 0.500 1.9E-02
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype 0.100 None 0 0