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: 6023
Gene Symbol: RMRP
RMRP 		RNA component of mitochondrial RNA processing endoribonuclease 239 0.519 0.731 0.100 None 0 0
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		P08F94 PKHD1 ciliary IPT domain containing fibrocystin/polyductin 115 0.576 0.654 1.2E-47 0.100 None 0 0
Entrez Id: 199221
Gene Symbol: DZIP1L
DZIP1L 		Q8IYY4 DAZ interacting zinc finger protein 1 like Nucleic acid binding 21 0.769 0.308 2.4E-25 0.100 None 0 0
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		Q09428 ATP binding cassette subfamily C member 8 Transporter 317 0.474 0.846 8.0E-24 0.100 None 0 2
Entrez Id: 3694
Gene Symbol: ITGB6
ITGB6 		P18564 integrin subunit beta 6 Receptor 92 0.597 0.692 1.6E-22 0.100 None 0 0
Entrez Id: 348180
Gene Symbol: CTU2
CTU2 		Q2VPK5 cytosolic thiouridylase subunit 2 38 0.695 0.423 4.0E-22 0.100 None 0 0
Entrez Id: 4125
Gene Symbol: MAN2B1
MAN2B1 		O00754 mannosidase alpha class 2B member 1 66 0.674 0.462 4.8E-22 0.100 None 0 0
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		O15305 phosphomannomutase 2 Enzyme 214 0.535 0.769 1.4E-17 0.100 None 0 0
Entrez Id: 4683
Gene Symbol: NBN
NBN 		O60934 nibrin Nucleic acid binding 291 0.467 0.808 2.2E-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: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		O75844 zinc metallopeptidase STE24 Enzyme 265 0.517 0.731 8.9E-16 0.100 None 0 0
Entrez Id: 153241
Gene Symbol: CEP120
CEP120 		Q8N960 centrosomal protein 120 153 0.564 0.731 4.1E-15 0.100 None 0 0
Entrez Id: 2006
Gene Symbol: ELN
ELN 		P15502 elastin 545 0.415 0.885 2.1E-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: 25974
Gene Symbol: MMACHC
MMACHC 		Q9Y4U1 metabolism of cobalamin associated C 76 0.644 0.615 1.1E-13 0.100 None 0 0
Entrez Id: 92949
Gene Symbol: ADAMTSL1
ADAMTSL1 		Q8N6G6 ADAMTS like 1 Enzyme 40 0.682 0.654 3.1E-12 0.100 None 0 0
Entrez Id: 165
Gene Symbol: AEBP1
AEBP1 		Q8IUX7 AE binding protein 1 69 0.631 0.654 7.3E-11 0.100 None 0 0
Entrez Id: 197
Gene Symbol: AHSG
AHSG 		P02765 alpha 2-HS glycoprotein Enzyme modulator 204 0.506 0.846 3.2E-10 0.100 None 0 0
Entrez Id: 10195
Gene Symbol: ALG3
ALG3 		Q92685 ALG3 alpha-1,3- mannosyltransferase Enzyme 61 0.644 0.500 3.7E-10 0.100 None 0 0
Entrez Id: 5052
Gene Symbol: PRDX1
PRDX1 		Q06830 peroxiredoxin 1 Enzyme 237 0.485 0.846 7.7E-10 0.100 None 0 0
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 221 0.545 0.692 1.1E-09 0.100 None 0 0
Entrez Id: 57122
Gene Symbol: NUP107
NUP107 		P57740 nucleoporin 107 Transporter 98 0.595 0.500 2.6E-09 0.100 None 0 0
Entrez Id: 84942
Gene Symbol: WDR73
WDR73 		Q6P4I2 WD repeat domain 73 98 0.610 0.500 2.8E-09 0.100 None 0 0
Entrez Id: 8720
Gene Symbol: MBTPS1
MBTPS1 		Q14703 membrane bound transcription factor peptidase, site 1 Enzyme 148 0.532 0.692 7.6E-09 0.100 None 0 0
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1 		Q9Y617 phosphoserine aminotransferase 1 285 0.478 0.846 1.1E-08 0.100 None 0 0