Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 10715
Gene Symbol: CERS1
CERS1
P27544 ceramide synthase 1 49 0.638 0.385 9.7E-02 0.300 None 0 0
Entrez Id: 9570
Gene Symbol: GOSR2
GOSR2
O14653 golgi SNAP receptor complex member 2 Transporter 55 0.653 0.423 4.7E-07 0.300 None 0 0
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
O14647 chromodomain helicase DNA binding protein 2 99 0.585 0.577 1.00 0.300 None 0 0
Entrez Id: 56978
Gene Symbol: PRDM8
PRDM8
Q9NQV8 PR/SET domain 8 39 0.678 0.462 0.78 0.300 None 0 0
Entrez Id: 84823
Gene Symbol: LMNB2
LMNB2
Q03252 lamin B2 74 0.636 0.615 1.00 0.300 None 0 0
Entrez Id: 2481
Gene Symbol: FRAXE
FRAXE
fragile site, folic acid type, rare, fra(X)(q28) E 50 0.636 0.462 0.010 None 1.000 1 0 1994 1994
Entrez Id: 2477
Gene Symbol: FRAXA
FRAXA
fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) 50 0.641 0.462 0.010 None 1.000 1 0 1994 1994
Entrez Id: 1822
Gene Symbol: ATN1
ATN1
P54259 atrophin 1 499 0.409 0.885 1.00 0.700 limited 1.000 45 0 1995 2020
Entrez Id: 5173
Gene Symbol: PDYN
PDYN
P01213 prodynorphin Signaling 197 0.535 0.577 1.7E-04 0.010 None 1.000 1 0 1995 1995
Entrez Id: 6310
Gene Symbol: ATXN1
ATXN1
P54253 ataxin 1 218 0.534 0.769 0.97 0.100 None 1.000 24 0 1996 2016
Entrez Id: 4287
Gene Symbol: ATXN3
ATXN3
P54252 ataxin 3 Enzyme 207 0.521 0.808 0.11 0.100 None 1.000 19 0 1996 2016
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2
Q99700 ataxin 2 Nucleic acid binding 341 0.482 0.808 0.85 0.100 None 1.000 17 0 1996 2016
Entrez Id: 4061
Gene Symbol: LY6E
LY6E
Q16553 lymphocyte antigen 6 family member E 115 0.563 0.808 0.32 0.100 None 1.000 14 0 1996 2010
Entrez Id: 6314
Gene Symbol: ATXN7
ATXN7
O15265 ataxin 7 162 0.581 0.654 0.96 0.100 None 0.909 11 0 1996 2016
Entrez Id: 367
Gene Symbol: AR
AR
P10275 androgen receptor Nuclear receptor 854 0.351 0.846 0.99 0.040 None 1.000 4 0 1996 2014
Entrez Id: 2395
Gene Symbol: FXN
FXN
Q16595 frataxin Enzyme 220 0.510 0.654 0.34 0.030 None 1.000 3 0 1996 2019
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
O15020 spectrin beta, non-erythrocytic 2 79 0.619 0.731 9.9E-05 0.020 None 1.000 2 0 1996 1996
Entrez Id: 25894
Gene Symbol: PLEKHG4
PLEKHG4
Q58EX7 pleckstrin homology and RhoGEF domain containing G4 23 0.769 0.154 1.1E-16 0.010 None 1.000 1 0 1996 1996
Entrez Id: 5744
Gene Symbol: PTHLH
PTHLH
P12272 parathyroid hormone like hormone 321 0.453 0.846 0.81 0.010 None 1.000 1 0 1996 1996
Entrez Id: 7450
Gene Symbol: VWF
VWF
P04275 von Willebrand factor Enzyme modulator 498 0.408 0.885 3.2E-25 0.010 None 1.000 1 0 1996 1996
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 320 0.489 0.769 1.00 0.100 None 1.000 16 0 1998 2016
Entrez Id: 3064
Gene Symbol: HTT
HTT
P42858 huntingtin 188 0.548 0.654 1.00 0.030 None 1.000 3 0 1999 2011
Entrez Id: 3497
Gene Symbol: IGHE
IGHE
P01854 immunoglobulin heavy constant epsilon 55 0.626 0.538 0.010 None 1.000 1 0 1999 1999
Entrez Id: 5905
Gene Symbol: RANGAP1
RANGAP1
P46060 Ran GTPase activating protein 1 Enzyme modulator 49 0.617 0.538 2.6E-02 0.010 None < 0.001 1 0 1999 1999
Entrez Id: 5521
Gene Symbol: PPP2R2B
PPP2R2B
Q00005 protein phosphatase 2 regulatory subunit Bbeta Enzyme 86 0.601 0.577 0.98 0.040 None 1.000 4 0 2000 2012