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: 4927
Gene Symbol: NUP88
NUP88
Q99567 nucleoporin 88 Transporter 58 0.659 0.577 2.0E-08 0.100 None 0 0
Entrez Id: 6689
Gene Symbol: SPIB
SPIB
Q01892 Spi-B transcription factor Transcription factor 58 0.628 0.538 0.91 0.100 None 0 0
Entrez Id: 22891
Gene Symbol: ZNF365
ZNF365
Q70YC4 Q70YC5 zinc finger protein 365 60 0.641 0.654 4.7E-04 0.100 None 0 0
Entrez Id: 84334
Gene Symbol: COA8
COA8
Q96IL0 cytochrome c oxidase assembly factor 8 61 0.682 0.538 2.1E-04 0.100 None 0 0
Entrez Id: 1807
Gene Symbol: DPYS
DPYS
Q14117 dihydropyrimidinase Enzyme 63 0.621 0.577 2.8E-11 0.100 None 0 0
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
Q9Y5L0 transportin 3 Transporter 66 0.663 0.577 1.8E-06 0.100 None 0 0
Entrez Id: 5450
Gene Symbol: POU2AF1
POU2AF1
Q16633 POU class 2 homeobox associating factor 1 70 0.608 0.615 0.57 0.100 None 0 0
Entrez Id: 79258
Gene Symbol: MMEL1
MMEL1
Q495T6 membrane metalloendopeptidase like 1 Enzyme 74 0.606 0.692 1.2E-22 0.100 None 0 0
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL
P35914 3-hydroxy-3-methylglutaryl-CoA lyase Enzyme 75 0.691 0.462 2.6E-06 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: 6584
Gene Symbol: SLC22A5
SLC22A5
O76082 solute carrier family 22 member 5 Transporter 103 0.608 0.731 5.3E-16 0.100 None 0 0
Entrez Id: 4654
Gene Symbol: MYOD1
MYOD1
P15172 myogenic differentiation 1 Transcription factor 106 0.569 0.654 0.15 0.100 None 0 0
Entrez Id: 285489
Gene Symbol: DOK7
DOK7
Q18PE1 docking protein 7 108 0.615 0.615 1.0E-04 0.100 None 0 0
Entrez Id: 3594
Gene Symbol: IL12RB1
IL12RB1
P42701 interleukin 12 receptor subunit beta 1 Signaling 118 0.555 0.731 9.4E-15 0.100 None 0 0
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
Q13702 receptor associated protein of the synapse 121 0.593 0.731 1.5E-03 0.100 None 0 0
Entrez Id: 2203
Gene Symbol: FBP1
FBP1
P09467 fructose-bisphosphatase 1 Enzyme 125 0.575 0.692 7.9E-02 0.100 None 0 0
Entrez Id: 9966
Gene Symbol: TNFSF15
TNFSF15
O95150 TNF superfamily member 15 Signaling 143 0.531 0.692 2.8E-03 0.100 None 0 0
Entrez Id: 4593
Gene Symbol: MUSK
MUSK
O15146 muscle associated receptor tyrosine kinase Kinase 146 0.570 0.769 4.2E-08 0.100 None 0 0
Entrez Id: 5631
Gene Symbol: PRPS1
PRPS1
P60891 phosphoribosyl pyrophosphate synthetase 1 Kinase 151 0.584 0.731 0.92 0.100 None 0 0
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
P24752 acetyl-CoA acetyltransferase 1 Enzyme 176 0.538 0.692 9.9E-08 0.100 None 0 0
Entrez Id: 8260
Gene Symbol: NAA10
NAA10
P41227 N-alpha-acetyltransferase 10, NatA catalytic subunit Enzyme 199 0.535 0.692 0.76 0.100 None 0 0
Entrez Id: 4287
Gene Symbol: ATXN3
ATXN3
P54252 ataxin 3 Enzyme 207 0.521 0.808 0.11 0.010 None 1.000 1 0 2017 2017
Entrez Id: 6310
Gene Symbol: ATXN1
ATXN1
P54253 ataxin 1 218 0.534 0.769 0.97 0.010 None 1.000 1 0 2010 2010
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
P08034 gap junction protein beta 1 Cell-cell junction 224 0.514 0.731 0.85 0.100 None 0 0
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
Q13568 interferon regulatory factor 5 Transcription factor 226 0.489 0.731 9.0E-03 0.100 None 0 0