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: 7040
Gene Symbol: TGFB1
TGFB1
transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
major histocompatibility complex, class II, DR beta 1 0.333 0.923 1.1E-03
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 1756
Gene Symbol: DMD
DMD
dystrophin 0.423 0.923 1.00
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: 8878
Gene Symbol: SQSTM1
SQSTM1
sequestosome 1 0.428 0.885 8.6E-04
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 0.434 0.846 1.00
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.120 None 1.000 0 0 2010 2011
Entrez Id: 8600
Gene Symbol: TNFSF11
TNFSF11
TNF superfamily member 11 0.453 0.846 4.9E-03
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
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: 1674
Gene Symbol: DES
DES
desmin 0.460 0.846 8.8E-03
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
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: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 50964
Gene Symbol: SOST
SOST
sclerostin 0.474 0.808 0.87
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.110 None < 0.001 0 0 2019 2019
Entrez Id: 2934
Gene Symbol: GSN
GSN
gelsolin 0.475 0.885 3.9E-11
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.110 None 1.000 0 0 2011 2011
Entrez Id: 9968
Gene Symbol: MED12
MED12
mediator complex subunit 12 0.476 0.769 1.00
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 6855
Gene Symbol: SYP
SYP
synaptophysin 0.481 0.808 0.92
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 79581
Gene Symbol: SLC52A2
SLC52A2
solute carrier family 52 member 2 0.483 0.808 2.5E-03
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 4041
Gene Symbol: LRP5
LRP5
LDL receptor related protein 5 0.485 0.846 0.51
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 5155
Gene Symbol: PDGFB
PDGFB
platelet derived growth factor subunit B 0.488 0.846 0.77
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: 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