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: 80184
Gene Symbol: CEP290
CEP290 		O15078 centrosomal protein 290 196 0.517 0.769 1.1E-60 0.100 None 0 2
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		Q9Y6A1 protein O-mannosyltransferase 1 223 0.525 0.615 4.2E-17 0.100 None 0 1
Entrez Id: 93627
Gene Symbol: TBCK
TBCK 		Q8TEA7 TBC1 domain containing kinase Kinase 85 0.650 0.654 2.1E-15 0.100 None 0 1
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		O15553 MEFV innate immuity regulator, pyrin 410 0.440 0.885 1.0E-14 0.100 None 0 1
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1 		Q8IXJ9 ASXL transcriptional regulator 1 296 0.482 0.808 1.3E-14 0.100 None 0 1
Entrez Id: 23334
Gene Symbol: SZT2
SZT2 		Q5T011 SZT2 subunit of KICSTOR complex 72 0.670 0.423 2.3E-14 0.100 None 0 2
Entrez Id: 1305
Gene Symbol: COL13A1
COL13A1 		Q5TAT6 collagen type XIII alpha 1 chain 139 0.608 0.654 3.7E-14 0.100 None 0 0
Entrez Id: 1103
Gene Symbol: CHAT
CHAT 		P28329 choline O-acetyltransferase Enzyme 230 0.520 0.808 5.6E-11 0.100 None 0 0
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A 		Q8NI60 coenzyme Q8A Kinase 64 0.674 0.385 9.3E-11 0.100 None 0 0
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B 		Q5TBB1 ribonuclease H2 subunit B 115 0.595 0.615 3.3E-09 0.100 None 0 1
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM 		Q9NXG6 prolyl 4-hydroxylase, transmembrane 59 0.666 0.500 3.9E-09 0.300 strong 1.000 1 0 2014 2014
Entrez Id: 375790
Gene Symbol: AGRN
AGRN 		O00468 agrin 124 0.626 0.538 5.5E-07 0.100 None 0 0
Entrez Id: 7054
Gene Symbol: TH
TH 		P07101 tyrosine hydroxylase 321 0.462 0.885 1.7E-06 0.100 None 0 0
Entrez Id: 55823
Gene Symbol: VPS11
VPS11 		Q9H270 VPS11 core subunit of CORVET and HOPS complexes Transporter 79 0.633 0.654 1.9E-05 0.100 None 0 1
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1 		P78357 contactin associated protein 1 166 0.554 0.577 3.4E-05 0.100 None 0 1
Entrez Id: 5194
Gene Symbol: PEX13
PEX13 		Q92968 peroxisomal biogenesis factor 13 132 0.597 0.654 5.9E-05 0.100 None 0 0
Entrez Id: 5824
Gene Symbol: PEX19
PEX19 		P40855 peroxisomal biogenesis factor 19 Storage 134 0.585 0.731 3.2E-04 0.100 None 0 0
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		O75398 DEAF1 transcription factor 156 0.575 0.615 3.4E-04 0.100 None 1.000 1 1 2017 2017
Entrez Id: 6487
Gene Symbol: ST3GAL3
ST3GAL3 		Q11203 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 95 0.606 0.654 2.6E-03 0.100 None 0 0
Entrez Id: 6843
Gene Symbol: VAMP1
VAMP1 		P23763 vesicle associated membrane protein 1 124 0.628 0.538 3.9E-03 0.100 None 0 0
Entrez Id: 23221
Gene Symbol: RHOBTB2
RHOBTB2 		Q9BYZ6 Rho related BTB domain containing 2 Enzyme modulator 76 0.631 0.615 1.3E-02 0.100 None 0 1
Entrez Id: 60482
Gene Symbol: SLC5A7
SLC5A7 		Q9GZV3 solute carrier family 5 member 7 Transporter 127 0.597 0.654 1.5E-02 0.100 None 0 0
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1 		P53007 solute carrier family 25 member 1 Transporter 168 0.553 0.731 5.9E-02 0.100 None 0 0
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A 		P04350 tubulin beta 4A class IVa Cellular structure 107 0.608 0.615 0.11 0.100 None 1.000 1 1 2014 2014
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A 		P84243 H3.3 histone A 134 0.559 0.692 0.12 0.100 None 0 1