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: 35
Gene Symbol: ACADS
ACADS
acyl-CoA dehydrogenase short chain 0.663 0.538 2.8E-06
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 2182
Gene Symbol: ACSL4
ACSL4
acyl-CoA synthetase long chain family member 4 0.561 0.769 0.98
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: 51816
Gene Symbol: ADA2
ADA2
adenosine deaminase 2 0.545 0.846 8.1E-08
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 122622
Gene Symbol: ADSS1
ADSS1
adenylosuccinate synthase 1 0.722 0.385 2.8E-07
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 375790
Gene Symbol: AGRN
AGRN
agrin 0.626 0.538 5.5E-07
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 186
Gene Symbol: AGTR2
AGTR2
angiotensin II receptor type 2 0.496 0.808 8.2E-03
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 221264
Gene Symbol: AK9
AK9
adenylate kinase 9 0.751 0.346 3.7E-26
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 79868
Gene Symbol: ALG13
ALG13
ALG13 UDP-N-acetylglucosaminyltransferase subunit 0.631 0.577 1.00
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 199857
Gene Symbol: ALG14
ALG14
ALG14 UDP-N-acetylglucosaminyltransferase subunit 0.722 0.308 9.4E-04
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 85365
Gene Symbol: ALG2
ALG2
ALG2 alpha-1,3/1,6-mannosyltransferase 0.670 0.423 8.0E-05
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 139285
Gene Symbol: AMER1
AMER1
APC membrane recruitment protein 1 0.570 0.654 0.85
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 56172
Gene Symbol: ANKH
ANKH
ANKH inorganic pyrophosphate transport regulator 0.606 0.692 0.28
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
anoctamin 5 0.619 0.538 2.9E-22
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 9459
Gene Symbol: ARHGEF6
ARHGEF6
Rac/Cdc42 guanine nucleotide exchange factor 6 0.678 0.462 1.00
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 170302
Gene Symbol: ARX
ARX
aristaless related homeobox 0.516 0.654 0.91
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1
N-acylsphingosine amidohydrolase 1 0.526 0.808 1.3E-12
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
BAG cochaperone 3 0.498 0.846 0.62
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 274
Gene Symbol: BIN1
BIN1
bridging integrator 1 0.550 0.692 0.78
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 9790
Gene Symbol: BMS1
BMS1
BMS1 ribosome biogenesis factor 0.499 0.846 1.8E-04
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 56244
Gene Symbol: BTNL2
BTNL2
butyrophilin like 2 0.546 0.808 8.6E-11
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 400916
Gene Symbol: CHCHD10
CHCHD10
coiled-coil-helix-coiled-coil-helix domain containing 10 0.623 0.462 5.4E-06
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: 1120
Gene Symbol: CHKB
CHKB
choline kinase beta 0.663 0.423 3.8E-07
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
cholinergic receptor nicotinic alpha 1 subunit 0.615 0.577 2.1E-08
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
disease 0.100 None 0 0