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: 410
Gene Symbol: ARSA
ARSA
arylsulfatase A 0.448 0.923 1.1E-11
CUI: C0278134
Disease: Absence of sensation
Absence of sensation
phenotype 0.100 None 1.000 13 0 2017 2019
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
BAG cochaperone 3 0.498 0.846 0.62
CUI: C0278134
Disease: Absence of sensation
Absence of sensation
phenotype 0.050 None 1.000 5 0 2017 2019
Entrez Id: 100379198
Gene Symbol: ECT
ECT
centralopathic epilepsy 0.626 0.423
CUI: C0278134
Disease: Absence of sensation
Absence of sensation
phenotype 0.040 None 1.000 4 0 2017 2019
Entrez Id: 10558
Gene Symbol: SPTLC1
SPTLC1
serine palmitoyltransferase long chain base subunit 1 0.650 0.538 4.2E-11
CUI: C0278134
Disease: Absence of sensation
Absence of sensation
phenotype 0.030 None 1.000 3 0 2002 2011
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C0278134
Disease: Absence of sensation
Absence of sensation
phenotype 0.030 None 1.000 3 0 1995 2009
Entrez Id: 213
Gene Symbol: ALB
ALB
albumin 0.317 0.962 0.64
CUI: C0278134
Disease: Absence of sensation
Absence of sensation
phenotype 0.020 None 1.000 2 0 2017 2018
Entrez Id: 154
Gene Symbol: ADRB2
ADRB2
adrenoceptor beta 2 0.442 0.923 0.53
CUI: C0278134
Disease: Absence of sensation
Absence of sensation
phenotype 0.020 None 1.000 2 0 2012 2014
Entrez Id: 627
Gene Symbol: BDNF
BDNF
brain derived neurotrophic factor 0.345 0.923 0.66
CUI: C0278134
Disease: Absence of sensation
Absence of sensation
phenotype 0.020 None 1.000 2 0 2017 2019
Entrez Id: 6285
Gene Symbol: S100B
S100B
S100 calcium binding protein B 0.383 0.923 4.4E-02
CUI: C0278134
Disease: Absence of sensation
Absence of sensation
phenotype 0.020 None 1.000 2 0 2017 2019
Entrez Id: 7124
Gene Symbol: TNF
TNF
tumor necrosis factor 0.231 0.962 0.80
CUI: C0278134
Disease: Absence of sensation
Absence of sensation
phenotype 0.020 None 1.000 2 0 2003 2018
Entrez Id: 27352
Gene Symbol: SGSM3
SGSM3
small G protein signaling modulator 3 0.469 0.808 3.4E-15
CUI: C0278134
Disease: Absence of sensation
Absence of sensation
phenotype 0.020 None 1.000 2 0 2017 2018
Entrez Id: 4907
Gene Symbol: NT5E
NT5E
5'-nucleotidase ecto 0.436 0.885 2.3E-11
CUI: C0278134
Disease: Absence of sensation
Absence of sensation
phenotype 0.020 None 1.000 2 0 2018 2018
Entrez Id: 3060
Gene Symbol: HCRT
HCRT
hypocretin neuropeptide precursor 0.500 0.808 2.9E-02
CUI: C0278134
Disease: Absence of sensation
Absence of sensation
phenotype 0.020 None 1.000 2 0 2018 2019
Entrez Id: 5987
Gene Symbol: TRIM27
TRIM27
tripartite motif containing 27 0.572 0.808 1.00
CUI: C0278134
Disease: Absence of sensation
Absence of sensation
phenotype 0.010 None 1.000 1 0 2019 2019
Entrez Id: 590
Gene Symbol: BCHE
BCHE
butyrylcholinesterase 0.447 0.923 1.1E-13
CUI: C0278134
Disease: Absence of sensation
Absence of sensation
phenotype 0.010 None 1.000 1 0 1993 1993
Entrez Id: 6419
Gene Symbol: SETMAR
SETMAR
SET domain and mariner transposase fusion gene 0.617 0.692 1.0E-04
CUI: C0278134
Disease: Absence of sensation
Absence of sensation
phenotype 0.010 None 1.000 1 0 2019 2019
Entrez Id: 6347
Gene Symbol: CCL2
CCL2
C-C motif chemokine ligand 2 0.321 0.962 0.61
CUI: C0278134
Disease: Absence of sensation
Absence of sensation
phenotype 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5670
Gene Symbol: PSG2
PSG2
pregnancy specific beta-1-glycoprotein 2 0.492 0.731 1.4E-30
CUI: C0278134
Disease: Absence of sensation
Absence of sensation
phenotype 0.010 None 1.000 1 0 2017 2017
Entrez Id: 57716
Gene Symbol: PRX
PRX
periaxin 0.650 0.577 2.1E-14
CUI: C0278134
Disease: Absence of sensation
Absence of sensation
phenotype 0.010 None 1.000 1 0 2008 2008
Entrez Id: 55835
Gene Symbol: CENPJ
CENPJ
centromere protein J 0.546 0.846 2.1E-27
CUI: C0278134
Disease: Absence of sensation
Absence of sensation
phenotype 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5641
Gene Symbol: LGMN
LGMN
legumain 0.579 0.731 4.1E-04
CUI: C0278134
Disease: Absence of sensation
Absence of sensation
phenotype 0.010 None 1.000 1 0 2019 2019
Entrez Id: 4968
Gene Symbol: OGG1
OGG1
8-oxoguanine DNA glycosylase 0.453 0.808 3.9E-12
CUI: C0278134
Disease: Absence of sensation
Absence of sensation
phenotype 0.010 None 1.000 1 0 2018 2018
Entrez Id: 51109
Gene Symbol: RDH11
RDH11
retinol dehydrogenase 11 0.769 0.346 1.1E-07
CUI: C0278134
Disease: Absence of sensation
Absence of sensation
phenotype 0.010 None 1.000 1 0 2019 2019
Entrez Id: 51237
Gene Symbol: MZB1
MZB1
marginal zone B and B1 cell specific protein 0.565 0.769 3.2E-04
CUI: C0278134
Disease: Absence of sensation
Absence of sensation
phenotype 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5173
Gene Symbol: PDYN
PDYN
prodynorphin 0.535 0.577 1.7E-04
CUI: C0278134
Disease: Absence of sensation
Absence of sensation
phenotype 0.010 None 1.000 1 0 2014 2014