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: 1106
Gene Symbol: CHD2
CHD2
O14647 chromodomain helicase DNA binding protein 2 99 0.585 0.577 1.00 0.100 None 0 0
Entrez Id: 5805
Gene Symbol: PTS
PTS
Q03393 6-pyruvoyltetrahydropterin synthase 89 0.636 0.654 6.5E-06 0.100 None 0 0
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 206 0.551 0.769 8.1E-04 0.100 None 0 0
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 287 0.477 0.808 1.00 0.100 None 0 0
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1
P43699 NK2 homeobox 1 Transcription factor 319 0.457 0.808 0.36 0.100 None 0 0
Entrez Id: 7273
Gene Symbol: TTN
TTN
Q8WZ42 titin Kinase 366 0.470 0.885 2.6E-96 0.100 None 0 0
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
Q7L5A8 fatty acid 2-hydroxylase Enzyme 131 0.573 0.654 0.15 0.100 None 0 0
Entrez Id: 8139
Gene Symbol: GAN
GAN
Q9H2C0 gigaxonin 71 0.674 0.500 2.5E-02 0.100 None 0 0
Entrez Id: 84876
Gene Symbol: ORAI1
ORAI1
Q96D31 ORAI calcium release-activated calcium modulator 1 Ion channel 195 0.520 0.808 1.9E-05 0.100 None 0 0
Entrez Id: 8996
Gene Symbol: NOL3
NOL3
O60936 nucleolar protein 3 100 0.575 0.808 2.0E-04 0.100 None 0 0
Entrez Id: 5602
Gene Symbol: MAPK10
MAPK10
P53779 mitogen-activated protein kinase 10 Kinase 75 0.606 0.692 0.28 0.100 None 0 0
Entrez Id: 5575
Gene Symbol: PRKAR1B
PRKAR1B
P31321 protein kinase cAMP-dependent type I regulatory subunit beta 45 0.716 0.385 0.18 0.100 None 0 0
Entrez Id: 1600
Gene Symbol: DAB1
DAB1
O75553 DAB adaptor protein 1 Signaling 81 0.626 0.615 1.00 0.100 None 0 0
Entrez Id: 1756
Gene Symbol: DMD
DMD
P11532 dystrophin 484 0.423 0.923 1.00 0.100 None 0 0
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
Q05193 dynamin 1 Enzyme modulator 114 0.595 0.692 1.00 0.100 None 0 0
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 174 0.547 0.769 1.00 0.100 None 0 0
Entrez Id: 23316
Gene Symbol: CUX2
CUX2
O14529 cut like homeobox 2 Transcription factor 87 0.644 0.500 1.00 0.100 None 0 0
Entrez Id: 2395
Gene Symbol: FXN
FXN
Q16595 frataxin Enzyme 220 0.510 0.654 0.34 0.100 None 0 0
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
P28472 gamma-aminobutyric acid type A receptor subunit beta3 Ion channel 139 0.546 0.615 0.95 0.100 None 0 0
Entrez Id: 26278
Gene Symbol: SACS
SACS
Q9NZJ4 sacsin molecular chaperone 106 0.606 0.654 1.1E-23 0.100 None 0 0
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
P10636 microtubule associated protein tau 469 0.446 0.923 6.0E-03 0.100 None 0 0
Entrez Id: 9227
Gene Symbol: LRAT
LRAT
O95237 lecithin retinol acyltransferase 84 0.608 0.654 2.8E-02 0.100 None 0 0