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: 51324
Gene Symbol: SPG21
SPG21 		Q9NZD8 SPG21 abhydrolase domain containing, maspardin 46 0.695 0.500 6.6E-04 0.100 None 0 0
Entrez Id: 64837
Gene Symbol: KLC2
KLC2 		Q9H0B6 kinesin light chain 2 31 0.736 0.346 0.98 0.100 None 0 0
Entrez Id: 23431
Gene Symbol: AP4E1
AP4E1 		Q9UPM8 adaptor related protein complex 4 subunit epsilon 1 Receptor 72 0.656 0.385 2.8E-03 0.100 None 0 1
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2 		Q9NQ11 ATPase cation transporting 13A2 160 0.566 0.577 9.0E-09 0.100 None 0 0
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1 		P61764 syntaxin binding protein 1 Transporter 213 0.532 0.692 1.00 0.100 None 0 0
Entrez Id: 84668
Gene Symbol: FAM126A
FAM126A 		Q9BYI3 family with sequence similarity 126 member A 50 0.682 0.423 0.12 0.100 None 0 1
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: 23064
Gene Symbol: SETX
SETX 		Q7Z333 senataxin Enzyme 133 0.570 0.731 0.95 0.100 None 0 0
Entrez Id: 776
Gene Symbol: CACNA1D
CACNA1D 		Q01668 calcium voltage-gated channel subunit alpha1 D Ion channel 116 0.582 0.577 1.00 0.100 None 0 0
Entrez Id: 22948
Gene Symbol: CCT5
CCT5 		P48643 chaperonin containing TCP1 subunit 5 Chaperone 50 0.663 0.462 1.00 0.100 None 0 0
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6 		O95255 ATP binding cassette subfamily C member 6 Transporter 181 0.540 0.654 5.6E-35 0.100 None 0 1
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 1
Entrez Id: 25778
Gene Symbol: DSTYK
DSTYK 		Q6XUX3 dual serine/threonine and tyrosine protein kinase Kinase 42 0.700 0.462 0.51 0.100 None 0 0
Entrez Id: 64097
Gene Symbol: EPB41L4A
EPB41L4A 		Q9HCS5 erythrocyte membrane protein band 4.1 like 4A 5 0.890 0.231 3.5E-21 0.100 None 0 1
Entrez Id: 3912
Gene Symbol: LAMB1
LAMB1 		P07942 laminin subunit beta 1 Enzyme modulator 75 0.615 0.654 5.1E-22 0.100 None 0 0
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		O60313 OPA1 mitochondrial dynamin like GTPase Enzyme modulator 236 0.510 0.846 0.99 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		P23760 paired box 3 257 0.481 0.769 0.24 0.100 None 0 0
Entrez Id: 51271
Gene Symbol: UBAP1
UBAP1 		Q9NZ09 ubiquitin associated protein 1 29 0.716 0.500 0.91 0.100 None 0 0
Entrez Id: 51308
Gene Symbol: REEP2
REEP2 		Q9BRK0 receptor accessory protein 2 Transporter 26 0.792 0.269 0.44 0.100 None 0 0
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		Q04446 1,4-alpha-glucan branching enzyme 1 Enzyme 102 0.612 0.654 1.1E-12 0.100 None 0 0
Entrez Id: 546
Gene Symbol: ATRX
ATRX 		P46100 ATRX chromatin remodeler 412 0.452 0.808 1.00 0.100 None 0 0
Entrez Id: 55080
Gene Symbol: TAPBPL
TAPBPL 		Q9BX59 TAP binding protein like Receptor 8 0.861 0.154 2.3E-10 0.100 None 0 1
Entrez Id: 2583
Gene Symbol: B4GALNT1
B4GALNT1 		Q00973 beta-1,4-N-acetyl-galactosaminyltransferase 1 67 0.644 0.615 3.9E-05 0.100 None 0 0
Entrez Id: 56270
Gene Symbol: WDR45B
WDR45B 		Q5MNZ6 WD repeat domain 45B 19 0.760 0.269 0.16 0.100 None 0 0
Entrez Id: 57679
Gene Symbol: ALS2
ALS2 		Q96Q42 alsin Rho guanine nucleotide exchange factor ALS2 84 0.647 0.423 8.7E-12 0.100 None 0 1