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: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		NPHP3-ACAD11 readthrough (NMD candidate) 82 0.663 0.577 0.100 None 0 2
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1 		Q8TCU4 ALMS1 centrosome and basal body associated protein 147 0.559 0.808 4.5E-60 0.100 None 0 0
Entrez Id: 1063
Gene Symbol: CENPF
CENPF 		P49454 centromere protein F 76 0.601 0.654 1.9E-36 0.100 None 0 0
Entrez Id: 178
Gene Symbol: AGL
AGL 		P35573 amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase Enzyme 59 0.644 0.615 2.8E-27 0.100 None 0 0
Entrez Id: 23065
Gene Symbol: EMC1
EMC1 		Q8N766 ER membrane protein complex subunit 1 38 0.700 0.462 6.7E-26 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 0
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A 		O14802 RNA polymerase III subunit A Enzyme 219 0.538 0.769 1.3E-23 0.100 None 0 0
Entrez Id: 374654
Gene Symbol: KIF7
KIF7 		Q2M1P5 kinesin family member 7 195 0.528 0.731 2.3E-22 0.100 None 0 0
Entrez Id: 1806
Gene Symbol: DPYD
DPYD 		Q12882 dihydropyrimidine dehydrogenase Enzyme 249 0.493 0.846 3.4E-22 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 257 0.507 0.808 5.2E-22 0.100 None 0 0
Entrez Id: 84083
Gene Symbol: ZRANB3
ZRANB3 		Q5FWF4 zinc finger RANBP2-type containing 3 19 0.780 0.577 4.2E-21 0.100 None 0 1
Entrez Id: 4621
Gene Symbol: MYH3
MYH3 		P11055 myosin heavy chain 3 160 0.563 0.654 6.7E-21 0.100 None 0 0
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2 		P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 499 0.420 0.846 7.1E-20 0.100 None 0 0
Entrez Id: 84570
Gene Symbol: COL25A1
COL25A1 		Q9BXS0 collagen type XXV alpha 1 chain 84 0.599 0.538 1.6E-18 0.100 None 0 0
Entrez Id: 23418
Gene Symbol: CRB1
CRB1 		P82279 crumbs cell polarity complex component 1 116 0.570 0.654 5.6E-16 0.100 None 0 0
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP 		Q99797 mitochondrial intermediate peptidase Enzyme 69 0.666 0.615 1.6E-15 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 0
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8 		Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 175 0.551 0.885 2.8E-15 0.100 None 0 3
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7 		Q9NVM4 protein arginine methyltransferase 7 Epigenetic regulator 65 0.674 0.538 5.5E-15 0.100 None 0 2
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94 		Q12767 transmembrane protein 94 103 0.628 0.654 2.8E-14 0.100 None 0 2
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: 259232
Gene Symbol: NALCN
NALCN 		Q8IZF0 sodium leak channel, non-selective Ion channel 143 0.587 0.615 8.5E-14 0.100 None 0 0
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		Q92889 ERCC excision repair 4, endonuclease catalytic subunit Enzyme 325 0.468 0.846 1.4E-12 0.100 None 0 0
Entrez Id: 65062
Gene Symbol: TMEM237
TMEM237 		Q96Q45 transmembrane protein 237 91 0.612 0.538 1.9E-12 0.100 None 0 0
Entrez Id: 2314
Gene Symbol: FLII
FLII 		Q13045 FLII actin remodeling protein 198 0.520 0.808 5.5E-12 0.100 None 0 0