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: 7528
Gene Symbol: YY1
YY1
P25490 YY1 transcription factor Transcription factor 245 0.481 0.808 0.99 0.100 None 0 0
Entrez Id: 7415
Gene Symbol: VCP
VCP
P55072 valosin containing protein 376 0.469 0.923 1.00 0.100 None 0 0
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA
A4D126 CDP-L-ribitol pyrophosphorylase A 134 0.566 0.654 2.5E-04 0.100 None 0 0
Entrez Id: 7084
Gene Symbol: TK2
TK2
O00142 thymidine kinase 2 Kinase 143 0.585 0.615 3.9E-07 0.100 None 0 0
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 419 0.436 0.885 2.0E-36 0.100 None 0 0
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
Q9BYX4 interferon induced with helicase C domain 1 319 0.471 0.808 7.0E-44 0.100 None 0 1
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 136 0.593 0.654 1.00 0.100 None 0 0
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
P51787 potassium voltage-gated channel subfamily Q member 1 Ion channel 281 0.485 0.769 4.5E-08 0.100 None 0 1
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
Q15046 lysyl-tRNA synthetase 1 Enzyme 62 0.636 0.577 4.2E-09 0.100 None 0 2
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
O75072 fukutin 211 0.511 0.692 8.7E-07 0.100 None 0 0
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
P33897 ATP binding cassette subfamily D member 1 Transporter 154 0.563 0.731 1.00 0.100 None 0 0
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72
Q96LT7 C9orf72-SMCR8 complex subunit 258 0.496 0.769 1.1E-06 0.100 None 0 0
Entrez Id: 1890
Gene Symbol: TYMP
TYMP
P19971 thymidine phosphorylase Enzyme 246 0.495 0.769 1.2E-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: 1786
Gene Symbol: DNMT1
DNMT1
P26358 DNA methyltransferase 1 Epigenetic regulator 496 0.406 0.885 1.00 0.100 None 0 0
Entrez Id: 165918
Gene Symbol: RNF168
RNF168
Q8IYW5 ring finger protein 168 64 0.653 0.731 2.1E-13 0.100 None 0 0
Entrez Id: 22907
Gene Symbol: DHX30
DHX30
Q7L2E3 DExH-box helicase 30 Enzyme 47 0.722 0.500 1.00 0.100 None 0 1
Entrez Id: 1497
Gene Symbol: CTNS
CTNS
O60931 cystinosin, lysosomal cystine transporter 88 0.628 0.538 3.1E-04 0.100 None 0 0
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
P07333 colony stimulating factor 1 receptor Kinase 356 0.448 0.808 0.13 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
Q92793 CREB binding protein 438 0.428 0.808 1.00 0.100 None 0 1
Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT
Q96DP5 mitochondrial methionyl-tRNA formyltransferase Enzyme 101 0.595 0.808 1.5E-07 0.100 None 0 0
Entrez Id: 10749
Gene Symbol: KIF1C
KIF1C
O43896 kinesin family member 1C Cellular structure 49 0.700 0.500 0.72 0.100 None 0 0
Entrez Id: 10585
Gene Symbol: POMT1
POMT1
Q9Y6A1 protein O-mannosyltransferase 1 223 0.525 0.615 4.2E-17 0.100 None 0 0
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
NPHP3-ACAD11 readthrough (NMD candidate) 82 0.663 0.577 0.100 None 0 2
Entrez Id: 23332
Gene Symbol: CLASP1
CLASP1
Q7Z460 cytoplasmic linker associated protein 1 Cellular structure 27 0.751 0.500 1.00 0.100 None 0 2