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: 5149
Gene Symbol: PDE6H
PDE6H 		Q13956 phosphodiesterase 6H Enzyme 33 0.700 0.269 8.3E-03 0.100 None 0 0
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB 		P09619 platelet derived growth factor receptor beta Kinase 492 0.416 0.846 0.90 0.100 None 0 0
Entrez Id: 51604
Gene Symbol: PIGT
PIGT 		Q969N2 phosphatidylinositol glycan anchor biosynthesis class T 79 0.633 0.615 7.3E-10 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: 523
Gene Symbol: ATP6V1A
ATP6V1A 		P38606 ATPase H+ transporting V1 subunit A Transporter 147 0.579 0.615 0.87 0.100 None 0 0
Entrez Id: 537
Gene Symbol: ATP6AP1
ATP6AP1 		Q15904 ATPase H+ transporting accessory protein 1 38 0.691 0.577 0.99 0.100 None 0 0
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		Q9UJ55 MAGE family member L2 Cell adhesion 184 0.560 0.654 0.98 0.100 None 0 0
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM 		Q9NXG6 prolyl 4-hydroxylase, transmembrane 59 0.666 0.500 3.9E-09 0.100 None 0 0
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3 		Q9NQW8 cyclic nucleotide gated channel subunit beta 3 Ion channel 67 0.633 0.192 7.8E-19 0.100 None 0 0
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 121 0.595 0.769 1.00 0.100 None 0 1
Entrez Id: 51098
Gene Symbol: IFT52
IFT52 		Q9Y366 intraflagellar transport 52 67 0.653 0.538 2.0E-06 0.100 None 0 0
Entrez Id: 63901
Gene Symbol: FAM111A
FAM111A 		Q96PZ2 family with sequence similarity 111 member A 64 0.663 0.462 2.2E-03 0.100 None 0 0
Entrez Id: 8239
Gene Symbol: USP9X
USP9X 		Q93008 ubiquitin specific peptidase 9 X-linked 255 0.502 0.846 1.00 0.100 None 0 0
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C 		P41229 lysine demethylase 5C 119 0.581 0.538 1.00 0.100 None 0 0
Entrez Id: 84162
Gene Symbol: KIAA1109
KIAA1109 		Q2LD37 KIAA1109 86 0.603 0.654 3.3E-21 0.100 None 0 0
Entrez Id: 84720
Gene Symbol: PIGO
PIGO 		Q8TEQ8 phosphatidylinositol glycan anchor biosynthesis class O 87 0.636 0.615 6.1E-11 0.100 None 0 0
Entrez Id: 8493
Gene Symbol: PPM1D
PPM1D 		O15297 protein phosphatase, Mg2+/Mn2+ dependent 1D Enzyme 177 0.513 0.808 2.2E-11 0.100 None 0 0
Entrez Id: 84992
Gene Symbol: PIGY
PIGY 		Q3MUY2 phosphatidylinositol glycan anchor biosynthesis class Y 99 0.628 0.577 9.7E-02 0.100 None 0 0
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3 		Q9BYB0 SH3 and multiple ankyrin repeat domains 3 169 0.550 0.731 1.00 0.100 None 0 0
Entrez Id: 8726
Gene Symbol: EED
EED 		O75530 embryonic ectoderm development 123 0.588 0.615 1.00 0.100 None 0 1
Entrez Id: 8913
Gene Symbol: CACNA1G
CACNA1G 		O43497 calcium voltage-gated channel subunit alpha1 G Ion channel 111 0.590 0.577 1.00 0.100 None 0 0
Entrez Id: 8924
Gene Symbol: HERC2
HERC2 		O95714 HECT and RLD domain containing E3 ubiquitin protein ligase 2 143 0.568 0.692 1.00 0.100 None 0 0
Entrez Id: 9230
Gene Symbol: RAB11B
RAB11B 		Q15907 RAB11B, member RAS oncogene family 55 0.691 0.538 0.44 0.100 None 0 0
Entrez Id: 93210
Gene Symbol: PGAP3
PGAP3 		Q96FM1 post-GPI attachment to proteins phospholipase 3 102 0.628 0.731 1.9E-03 0.100 None 0 0
Entrez Id: 9451
Gene Symbol: EIF2AK3
EIF2AK3 		Q9NZJ5 eukaryotic translation initiation factor 2 alpha kinase 3 Kinase 231 0.501 0.808 2.8E-03 0.100 None 0 0