Source: ALL
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: 54187
Gene Symbol: NANS
NANS 		Q9NR45 N-acetylneuraminate synthase Enzyme 153 0.545 0.692 0.100 None 0 0
Entrez Id: 6023
Gene Symbol: RMRP
RMRP 		RNA component of mitochondrial RNA processing endoribonuclease 239 0.519 0.731 0.100 None 0 0
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		P21817 ryanodine receptor 1 Ion channel 320 0.489 0.808 1.6E-29 0.100 None 0 0
Entrez Id: 9652
Gene Symbol: TTC37
TTC37 		Q6PGP7 tetratricopeptide repeat domain 37 91 0.626 0.654 1.7E-29 0.100 None 0 0
Entrez Id: 9742
Gene Symbol: IFT140
IFT140 		Q96RY7 intraflagellar transport 140 Cellular structure 124 0.572 0.692 9.9E-24 0.100 None 0 0
Entrez Id: 6499
Gene Symbol: SKIV2L
SKIV2L 		Q15477 Ski2 like RNA helicase 96 0.615 0.654 1.3E-22 0.100 None 0 0
Entrez Id: 374654
Gene Symbol: KIF7
KIF7 		Q2M1P5 kinesin family member 7 195 0.528 0.731 2.3E-22 0.100 None 0 0
Entrez Id: 4621
Gene Symbol: MYH3
MYH3 		P11055 myosin heavy chain 3 160 0.563 0.654 6.7E-21 0.100 None 0 0
Entrez Id: 471
Gene Symbol: ATIC
ATIC 		P31939 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase Enzyme 100 0.576 0.731 3.0E-19 0.100 None 0 0
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		O15305 phosphomannomutase 2 Enzyme 214 0.535 0.769 1.4E-17 0.100 None 0 0
Entrez Id: 57231
Gene Symbol: SNX14
SNX14 		Q9Y5W7 sorting nexin 14 Enzyme modulator 59 0.659 0.423 6.1E-17 0.100 None 0 0
Entrez Id: 145173
Gene Symbol: B3GLCT
B3GLCT 		Q6Y288 beta 3-glucosyltransferase Enzyme 157 0.554 0.731 7.1E-17 0.100 None 0 0
Entrez Id: 1801
Gene Symbol: DPH1
DPH1 		Q9BZG8 diphthamide biosynthesis 1 51 0.653 0.538 8.0E-17 0.100 None 0 0
Entrez Id: 10020
Gene Symbol: GNE
GNE 		Q9Y223 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Enzyme 118 0.610 0.692 2.5E-16 0.100 None 0 0
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD 		Q5T6L9 ER membrane associated RNA degradation 65 0.647 0.538 5.8E-16 0.100 None 0 0
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		O75844 zinc metallopeptidase STE24 Enzyme 265 0.517 0.731 8.9E-16 0.100 None 0 0
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1 		Q8IXJ9 ASXL transcriptional regulator 1 296 0.482 0.808 1.3E-14 0.100 None 0 0
Entrez Id: 5184
Gene Symbol: PEPD
PEPD 		P12955 peptidase D Enzyme 113 0.621 0.769 1.5E-14 0.100 None 0 0
Entrez Id: 259232
Gene Symbol: NALCN
NALCN 		Q8IZF0 sodium leak channel, non-selective Ion channel 143 0.587 0.615 8.5E-14 0.100 None 0 0
Entrez Id: 56006
Gene Symbol: SMG9
SMG9 		Q9H0W8 SMG9 nonsense mediated mRNA decay factor 48 0.729 0.346 3.5E-13 0.100 None 0 0
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11 		Q15643 thyroid hormone receptor interactor 11 148 0.595 0.654 1.7E-12 0.100 None 0 0
Entrez Id: 28981
Gene Symbol: IFT81
IFT81 		Q8WYA0 intraflagellar transport 81 37 0.700 0.385 9.1E-12 0.100 None 0 0
Entrez Id: 2733
Gene Symbol: GLE1
GLE1 		Q53GS7 GLE1 RNA export mediator Transporter 93 0.628 0.577 2.1E-10 0.100 None 0 0
Entrez Id: 10128
Gene Symbol: LRPPRC
LRPPRC 		P42704 leucine rich pentatricopeptide repeat containing 220 0.493 0.769 2.3E-10 0.100 None 0 0
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6 		O60733 phospholipase A2 group VI Enzyme modulator 350 0.476 0.846 2.5E-10 0.100 None 0 0