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: 100287722
Gene Symbol: AP4B1-AS1
AP4B1-AS1
AP4B1 antisense RNA 1 13 0.805 0.231 0.100 None 1.000 3 1 2011 2012
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
NPHP3-ACAD11 readthrough (NMD candidate) 82 0.663 0.577 0.100 None 0 2
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
Q9BYX4 interferon induced with helicase C domain 1 319 0.471 0.808 7.0E-44 0.100 None 0 0
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
Q1MSJ5 centrosome and spindle pole associated protein 1 170 0.544 0.769 3.3E-29 0.100 None 0 0
Entrez Id: 56992
Gene Symbol: KIF15
KIF15
Q9NS87 kinesin family member 15 Cellular structure 98 0.617 0.654 9.5E-25 0.100 None 0 0
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
Q5HYA8 transmembrane protein 67 215 0.512 0.769 2.1E-24 0.100 None 0 2
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: 84162
Gene Symbol: KIAA1109
KIAA1109
Q2LD37 KIAA1109 86 0.603 0.654 3.3E-21 0.100 None 0 0
Entrez Id: 55250
Gene Symbol: ELP2
ELP2
Q6IA86 elongator acetyltransferase complex subunit 2 30 0.716 0.538 4.2E-20 0.100 None 0 0
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5
Q8NB90 spermatogenesis associated 5 75 0.670 0.654 9.1E-20 0.100 None 0 0
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
Q9BT22 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase Enzyme 95 0.610 0.808 3.6E-19 0.100 None 0 3
Entrez Id: 26005
Gene Symbol: C2CD3
C2CD3
Q4AC94 C2 domain containing 3 centriole elongation regulator 59 0.636 0.538 4.4E-19 0.100 None 0 0
Entrez Id: 10585
Gene Symbol: POMT1
POMT1
Q9Y6A1 protein O-mannosyltransferase 1 223 0.525 0.615 4.2E-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: 9786
Gene Symbol: KIAA0586
KIAA0586
Q9BVV6 KIAA0586 157 0.565 0.731 5.1E-16 0.100 None 0 0
Entrez Id: 114034
Gene Symbol: TOE1
TOE1
Q96GM8 target of EGR1, exonuclease Nucleic acid binding 51 0.682 0.462 6.0E-16 0.100 None 0 0
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: 54872
Gene Symbol: PIGG
PIGG
Q5H8A4 phosphatidylinositol glycan anchor biosynthesis class G 21 0.792 0.231 5.4E-15 0.100 None 0 1
Entrez Id: 79867
Gene Symbol: TCTN2
TCTN2
Q96GX1 tectonic family member 2 109 0.578 0.654 1.8E-14 0.100 None 0 0
Entrez Id: 9894
Gene Symbol: TELO2
TELO2
Q9Y4R8 telomere maintenance 2 37 0.695 0.500 7.2E-14 0.100 None 0 0
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
Q5T160 arginyl-tRNA synthetase 2, mitochondrial 57 0.663 0.462 7.7E-14 0.100 None 0 0
Entrez Id: 55768
Gene Symbol: NGLY1
NGLY1
Q96IV0 N-glycanase 1 Enzyme 149 0.601 0.654 1.5E-13 0.100 None 0 0
Entrez Id: 50628
Gene Symbol: GEMIN4
GEMIN4
P57678 gem nuclear organelle associated protein 4 101 0.565 0.808 5.9E-13 0.100 None 0 0
Entrez Id: 221927
Gene Symbol: BRAT1
BRAT1
Q6PJG6 BRCA1 associated ATM activator 1 61 0.695 0.231 7.4E-13 0.100 None 0 0
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
Q6PI48 aspartyl-tRNA synthetase 2, mitochondrial Enzyme 92 0.638 0.577 9.8E-13 0.100 None 0 0