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: 2632
Gene Symbol: GBE1
GBE1
Q04446 1,4-alpha-glucan branching enzyme 1 Enzyme 102 0.612 0.654 1.1E-12 0.100 None 0 0
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1
P68032 actin alpha cardiac muscle 1 Cellular structure 69 0.610 0.538 0.74 0.100 None 0 0
Entrez Id: 88
Gene Symbol: ACTN2
ACTN2
P35609 actinin alpha 2 35 0.686 0.462 1.00 0.100 None 0 0
Entrez Id: 112
Gene Symbol: ADCY6
ADCY6
O43306 adenylate cyclase 6 28 0.729 0.500 5.8E-03 0.100 None 0 0
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
Q96Q42 alsin Rho guanine nucleotide exchange factor ALS2 84 0.647 0.423 8.7E-12 0.100 None 0 0
Entrez Id: 27063
Gene Symbol: ANKRD1
ANKRD1
Q15327 ankyrin repeat domain 1 65 0.628 0.692 2.6E-10 0.100 None 0 0
Entrez Id: 55129
Gene Symbol: ANO10
ANO10
Q9NW15 anoctamin 10 62 0.663 0.500 1.0E-14 0.100 None 0 0
Entrez Id: 335
Gene Symbol: APOA1
APOA1
P02647 apolipoprotein A1 416 0.429 0.885 5.5E-04 0.100 None 0 0
Entrez Id: 4287
Gene Symbol: ATXN3
ATXN3
P54252 ataxin 3 Enzyme 207 0.521 0.808 0.11 0.100 None 0 0
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
O95477 ATP binding cassette subfamily A member 1 Transporter 291 0.467 0.846 1.5E-13 0.100 None 0 0
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
O60706 ATP binding cassette subfamily C member 9 Transporter 175 0.552 0.692 9.4E-09 0.100 None 0 0
Entrez Id: 4509
Gene Symbol: ATP8
ATP8
P03928 ATP synthase F0 subunit 8 Transporter 43 0.666 0.615 0.100 None 0 0
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
O95817 BAG cochaperone 3 223 0.498 0.846 0.62 0.100 None 0 0
Entrez Id: 148789
Gene Symbol: B3GALNT2
B3GALNT2
Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 124 0.578 0.577 2.8E-07 0.100 None 0 0
Entrez Id: 846
Gene Symbol: CASR
CASR
P41180 calcium sensing receptor G-protein coupled receptor 517 0.410 0.846 4.7E-02 0.100 None 0 0
Entrez Id: 779
Gene Symbol: CACNA1S
CACNA1S
Q13698 calcium voltage-gated channel subunit alpha1 S Ion channel 118 0.595 0.692 6.3E-12 0.100 None 0 0
Entrez Id: 823
Gene Symbol: CAPN1
CAPN1
P07384 calpain 1 Enzyme 165 0.539 0.808 5.9E-10 0.100 None 0 1
Entrez Id: 126129
Gene Symbol: CPT1C
CPT1C
Q8TCG5 carnitine palmitoyltransferase 1C Enzyme 51 0.691 0.500 2.2E-09 0.100 None 0 0
Entrez Id: 859
Gene Symbol: CAV3
CAV3
P56539 caveolin 3 Enzyme modulator 163 0.564 0.692 5.5E-03 0.100 None 0 0
Entrez Id: 57562
Gene Symbol: CEP126
CEP126
Q9P2H0 centrosomal protein 126 12 0.839 0.192 5.2E-18 0.100 None 0 0
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
P35523 chloride voltage-gated channel 1 Ion channel 67 0.641 0.423 3.3E-20 0.100 None 0 0
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
Q9H799 ciliogenesis and planar polarity effector 1 120 0.575 0.692 5.9E-36 0.100 None 0 0
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
Q8NI60 coenzyme Q8A Kinase 64 0.674 0.385 9.3E-11 0.100 None 0 0
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
P12109 collagen type VI alpha 1 chain Receptor 164 0.587 0.731 1.00 0.100 None 0 1
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
P12110 collagen type VI alpha 2 chain Receptor 124 0.599 0.692 6.5E-08 0.100 None 0 0