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: 4771
Gene Symbol: NF2
NF2
neurofibromin 2 0.468 0.885 1.00
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 5980
Gene Symbol: REV3L
REV3L
REV3 like, DNA directed polymerase zeta catalytic subunit 0.588 0.654 1.00
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 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: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
receptor associated protein of the synapse 0.593 0.731 1.5E-03
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.582 0.654 2.6E-04
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 5824
Gene Symbol: PEX19
PEX19
peroxisomal biogenesis factor 19 0.585 0.731 3.2E-04
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 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: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 57731
Gene Symbol: SPTBN4
SPTBN4
spectrin beta, non-erythrocytic 4 0.686 0.462 1.00
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 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: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
ribosomal protein S6 kinase A3 0.491 0.846 1.00
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 65109
Gene Symbol: UPF3B
UPF3B
UPF3B regulator of nonsense mediated mRNA decay 0.619 0.615 0.98
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 6495
Gene Symbol: SIX1
SIX1
SIX homeobox 1 0.496 0.692 0.65
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 6444
Gene Symbol: SGCD
SGCD
sarcoglycan delta 0.641 0.615 2.1E-03
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 64419
Gene Symbol: MTMR14
MTMR14
myotubularin related protein 14 0.674 0.615 1.4E-07
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
nucleotide binding oligomerization domain containing 2 0.423 0.923 2.0E-30
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 63932
Gene Symbol: CXorf56
CXorf56
chromosome X open reading frame 56 0.705 0.385 0.95
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 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: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
selenoprotein N 0.575 0.692 9.8E-10
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 57167
Gene Symbol: SALL4
SALL4
spalt like transcription factor 4 0.489 0.769 1.00
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
peroxisomal biogenesis factor 12 0.601 0.615 9.5E-16
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
peroxisomal biogenesis factor 10 0.584 0.654 5.4E-04
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
peroxisomal biogenesis factor 6 0.547 0.731 6.3E-06
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0