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: C0234146
Disease: Absent reflex
Absent reflex
phenotype 0.400 None 1.000 0 0 2002 2002
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
alpha tocopherol transfer protein 0.612 0.577 1.4E-03
CUI: C0234146
Disease: Absent reflex
Absent reflex
phenotype 0.400 None 1.000 0 0 2000 2000
Entrez Id: 6843
Gene Symbol: VAMP1
VAMP1
vesicle associated membrane protein 1 0.628 0.538 3.9E-03
CUI: C0234146
Disease: Absent reflex
Absent reflex
phenotype 0.100 None 0 0
Entrez Id: 64374
Gene Symbol: SIL1
SIL1
SIL1 nucleotide exchange factor 0.584 0.731 1.2E-02
CUI: C0234146
Disease: Absent reflex
Absent reflex
phenotype 0.100 None 0 0
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C0234146
Disease: Absent reflex
Absent reflex
phenotype 0.100 None 0 0
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
sodium voltage-gated channel alpha subunit 9 0.543 0.615 4.8E-19
CUI: C0234146
Disease: Absent reflex
Absent reflex
phenotype 0.100 None 0 0
Entrez Id: 6310
Gene Symbol: ATXN1
ATXN1
ataxin 1 0.534 0.769 0.97
CUI: C0234146
Disease: Absent reflex
Absent reflex
phenotype 0.100 None 0 0
Entrez Id: 6305
Gene Symbol: SBF1
SBF1
SET binding factor 1 0.700 0.500 1.00
CUI: C0234146
Disease: Absent reflex
Absent reflex
phenotype 0.100 None 0 0
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C0234146
Disease: Absent reflex
Absent reflex
phenotype 0.100 None 0 0
Entrez Id: 60482
Gene Symbol: SLC5A7
SLC5A7
solute carrier family 5 member 7 0.597 0.654 1.5E-02
CUI: C0234146
Disease: Absent reflex
Absent reflex
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: C0234146
Disease: Absent reflex
Absent reflex
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: C0234146
Disease: Absent reflex
Absent reflex
phenotype 0.100 None 0 0
Entrez Id: 64419
Gene Symbol: MTMR14
MTMR14
myotubularin related protein 14 0.674 0.615 1.4E-07
CUI: C0234146
Disease: Absent reflex
Absent reflex
phenotype 0.100 None 0 0
Entrez Id: 64423
Gene Symbol: INF2
INF2
inverted formin, FH2 and WH2 domain containing 0.644 0.423 0.97
CUI: C0234146
Disease: Absent reflex
Absent reflex
phenotype 0.100 None 0 0
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
SURF1 cytochrome c oxidase assembly factor 0.578 0.654 1.6E-13
CUI: C0234146
Disease: Absent reflex
Absent reflex
phenotype 0.100 None 0 0
Entrez Id: 667
Gene Symbol: DST
DST
dystonin 0.552 0.846 1.00
CUI: C0234146
Disease: Absent reflex
Absent reflex
phenotype 0.100 None 0 0
Entrez Id: 6663
Gene Symbol: SOX10
SOX10
SRY-box transcription factor 10 0.461 0.808 0.99
CUI: C0234146
Disease: Absent reflex
Absent reflex
phenotype 0.100 None 0 0
Entrez Id: 6616
Gene Symbol: SNAP25
SNAP25
synaptosome associated protein 25 0.489 0.808 0.99
CUI: C0234146
Disease: Absent reflex
Absent reflex
phenotype 0.100 None 0 0
Entrez Id: 6606
Gene Symbol: SMN1
SMN1
survival of motor neuron 1, telomeric 0.454 0.769 1.6E-02
CUI: C0234146
Disease: Absent reflex
Absent reflex
phenotype 0.100 None 1.000 0 0 2013 2013
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
solute carrier family 25 member 1 0.553 0.731 5.9E-02
CUI: C0234146
Disease: Absent reflex
Absent reflex
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: C0234146
Disease: Absent reflex
Absent reflex
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: C0234146
Disease: Absent reflex
Absent reflex
phenotype 0.100 None 0 0
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
receptor accessory protein 1 0.653 0.423 0.99
CUI: C0234146
Disease: Absent reflex
Absent reflex
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: C0234146
Disease: Absent reflex
Absent reflex
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: C0234146
Disease: Absent reflex
Absent reflex
phenotype 0.100 None 0 0