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: 4287
Gene Symbol: ATXN3
ATXN3 		P54252 ataxin 3 Enzyme 207 0.521 0.808 0.11 0.010 None 1.000 1 0 2008 2008
Entrez Id: 146057
Gene Symbol: TTBK2
TTBK2 		Q6IQ55 tau tubulin kinase 2 Kinase 46 0.682 0.423 1.00 0.100 None 0 0
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		O95427 phosphatidylinositol glycan anchor biosynthesis class N Extracellular structure 173 0.558 0.615 2.3E-21 0.100 None 0 0
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.100 None 0 1
Entrez Id: 4361
Gene Symbol: MRE11
MRE11 		P49959 MRE11 homolog, double strand break repair nuclease 171 0.527 0.808 1.3E-12 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		O43933 peroxisomal biogenesis factor 1 235 0.538 0.769 1.1E-14 0.100 None 0 1
Entrez Id: 5830
Gene Symbol: PEX5
PEX5 		P50542 peroxisomal biogenesis factor 5 Transporter 174 0.561 0.731 5.6E-05 0.100 None 0 0
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 320 0.489 0.769 1.00 0.110 None 1.000 1 0 2008 2008
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1 		Q96KN7 RPGR interacting protein 1 Enzyme modulator 121 0.553 0.654 1.3E-23 0.300 None 1.000 1 0 2001 2001