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: 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 0
Entrez Id: 9742
Gene Symbol: IFT140
IFT140 		Q96RY7 intraflagellar transport 140 Cellular structure 124 0.572 0.692 9.9E-24 0.100 None 0 0
Entrez Id: 26278
Gene Symbol: SACS
SACS 		Q9NZJ4 sacsin molecular chaperone 106 0.606 0.654 1.1E-23 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: 55703
Gene Symbol: POLR3B
POLR3B 		Q9NW08 RNA polymerase III subunit B Enzyme 71 0.628 0.654 1.7E-23 0.100 None 0 0
Entrez Id: 284403
Gene Symbol: WDR62
WDR62 		O43379 WD repeat domain 62 83 0.597 0.615 2.4E-23 0.100 None 0 0
Entrez Id: 55755
Gene Symbol: CDK5RAP2
CDK5RAP2 		Q96SN8 CDK5 regulatory subunit associated protein 2 42 0.682 0.577 4.6E-23 0.100 None 0 0
Entrez Id: 55120
Gene Symbol: FANCL
FANCL 		Q9NW38 FA complementation group L Enzyme 137 0.551 0.731 5.9E-23 0.100 None 0 0
Entrez Id: 5053
Gene Symbol: PAH
PAH 		P00439 phenylalanine hydroxylase 219 0.516 0.769 6.4E-23 0.100 None 0 0
Entrez Id: 84464
Gene Symbol: SLX4
SLX4 		Q8IY92 SLX4 structure-specific endonuclease subunit 123 0.565 0.731 1.6E-22 0.100 None 0 0
Entrez Id: 8842
Gene Symbol: PROM1
PROM1 		O43490 prominin 1 Transporter 477 0.410 0.846 1.9E-22 0.100 None 0 0
Entrez Id: 9662
Gene Symbol: CEP135
CEP135 		Q66GS9 centrosomal protein 135 Enzyme modulator 31 0.695 0.615 3.6E-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: 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: 92211
Gene Symbol: CDHR1
CDHR1 		Q96JP9 cadherin related family member 1 48 0.670 0.308 2.8E-21 0.100 None 0 0
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1 		Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 188 0.537 0.538 1.9E-20 0.100 None 0 0
Entrez Id: 57704
Gene Symbol: GBA2
GBA2 		Q9HCG7 glucosylceramidase beta 2 79 0.636 0.654 2.0E-20 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: 79728
Gene Symbol: PALB2
PALB2 		Q86YC2 partner and localizer of BRCA2 260 0.485 0.769 3.0E-19 0.100 None 0 0
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1 		Q02318 cytochrome P450 family 27 subfamily A member 1 Enzyme 167 0.538 0.731 5.3E-19 0.100 None 0 0
Entrez Id: 4117
Gene Symbol: MAK
MAK 		P20794 male germ cell associated kinase Kinase 41 0.695 0.346 8.6E-19 0.100 None 0 0
Entrez Id: 388939
Gene Symbol: PCARE
PCARE 		A6NGG8 photoreceptor cilium actin regulator 49 0.674 0.346 3.0E-18 0.100 None 0 0
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5 		Q12768 WASH complex subunit 5 Transporter 129 0.572 0.615 8.3E-18 0.100 None 0 0
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		Q9BXC9 Bardet-Biedl syndrome 2 128 0.565 0.654 1.0E-17 0.100 None 0 0
Entrez Id: 9179
Gene Symbol: AP4M1
AP4M1 		O00189 adaptor related protein complex 4 subunit mu 1 Extracellular structure 78 0.638 0.500 4.5E-17 0.100 None 0 0