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: 5376
Gene Symbol: PMP22
PMP22
peripheral myelin protein 22 0.471 0.885 0.91
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.400 None 1.000 0 0 2002 2002
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.400 strong 1.000 0 0 2014 2014
Entrez Id: 57688
Gene Symbol: ZSWIM6
ZSWIM6
zinc finger SWIM-type containing 6 0.626 0.577 1.00
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 57716
Gene Symbol: PRX
PRX
periaxin 0.650 0.577 2.1E-14
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
actin alpha 1, skeletal muscle 0.540 0.769 1.1E-06
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
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: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 59345
Gene Symbol: GNB4
GNB4
G protein subunit beta 4 0.751 0.346 2.4E-03
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 57570
Gene Symbol: TRMT5
TRMT5
tRNA methyltransferase 5 0.769 0.231 5.0E-02
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 6572
Gene Symbol: SLC18A3
SLC18A3
solute carrier family 18 member A3 0.608 0.654 0.45
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
TBC1 domain family member 24 0.530 0.808 1.3E-08
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
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: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 57231
Gene Symbol: SNX14
SNX14
sorting nexin 14 0.659 0.423 6.1E-17
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
selenoprotein N 0.575 0.692 9.8E-10
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
twinkle mtDNA helicase 0.516 0.692 3.2E-03
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 5660
Gene Symbol: PSAP
PSAP
prosaposin 0.532 0.846 0.99
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 56203
Gene Symbol: LMOD3
LMOD3
leiomodin 3 0.700 0.423 1.6E-07
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 55775
Gene Symbol: TDP1
TDP1
tyrosyl-DNA phosphodiesterase 1 0.612 0.538 1.3E-17
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 5981
Gene Symbol: RFC1
RFC1
replication factor C subunit 1 0.541 0.808 0.97
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
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: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 65260
Gene Symbol: COA7
COA7
cytochrome c oxidase assembly factor 7 (putative) 0.792 0.231 6.0E-02
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 65125
Gene Symbol: WNK1
WNK1
WNK lysine deficient protein kinase 1 0.416 0.846 1.00
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 6506
Gene Symbol: SLC1A2
SLC1A2
solute carrier family 1 member 2 0.511 0.731 0.71
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 65057
Gene Symbol: ACD
ACD
ACD shelterin complex subunit and telomerase recruitment factor 0.603 0.731 1.1E-12
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0