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: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.020 None 1.000 2 0 2010 2013
Entrez Id: 57760
Gene Symbol: SPG16
SPG16 		spastic paraplegia 16 (complicated, X-linked recessive) 18 0.722 0.423 0.010 None 1.000 1 0 2017 2017
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		RNA, U4atac small nuclear (U12-dependent splicing) 199 0.556 0.808 0.100 None 0 0
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: 150094
Gene Symbol: SIK1
SIK1 		A0A0B4J2F2 P57059 salt inducible kinase 1 Kinase 157 0.544 0.731 0.94 0.100 None 0 0
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA 		A4D126 CDP-L-ribitol pyrophosphorylase A 134 0.566 0.654 2.5E-04 0.100 None 0 0
Entrez Id: 3796
Gene Symbol: KIF2A
KIF2A 		O00139 kinesin family member 2A Cellular structure 81 0.590 0.731 1.00 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 1
Entrez Id: 5296
Gene Symbol: PIK3R2
PIK3R2 		O00459 phosphoinositide-3-kinase regulatory subunit 2 Enzyme modulator 120 0.551 0.808 1.6E-02 0.100 None 0 0
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X 		O00571 DEAD-box helicase 3 X-linked 180 0.537 0.769 1.00 0.100 None 0 1
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A 		O14497 AT-rich interaction domain 1A 341 0.455 0.846 1.00 0.100 None 0 1
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A 		O14802 RNA polymerase III subunit A Enzyme 219 0.538 0.769 1.3E-23 0.110 None 1.000 1 0 2015 2015
Entrez Id: 8825
Gene Symbol: LIN7A
LIN7A 		O14910 lin-7 homolog A, crumbs cell polarity complex component Cell-cell junction 24 0.736 0.385 1.1E-07 0.010 None 1.000 1 0 2014 2014
Entrez Id: 8573
Gene Symbol: CASK
CASK 		O14936 calcium/calmodulin dependent serine protein kinase Kinase 193 0.538 0.808 1.00 0.100 None 0 0
Entrez Id: 9895
Gene Symbol: TECPR2
TECPR2 		O15040 tectonin beta-propeller repeat containing 2 51 0.663 0.423 0.58 0.100 None 0 0
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		O15078 centrosomal protein 290 196 0.517 0.769 1.1E-60 0.100 None 0 0
Entrez Id: 9533
Gene Symbol: POLR1C
POLR1C 		O15160 RNA polymerase I and III subunit C Enzyme 86 0.595 0.615 6.3E-10 0.100 None 0 0
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH 		O43175 phosphoglycerate dehydrogenase Enzyme 288 0.484 0.885 1.3E-04 0.100 None 0 0
Entrez Id: 9907
Gene Symbol: AP5Z1
AP5Z1 		O43299 adaptor related protein complex 5 subunit zeta 1 47 0.700 0.346 7.3E-31 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 0.110 None 1.000 1 0 2010 2010
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1 		O43426 synaptojanin 1 Enzyme 128 0.576 0.577 0.43 0.100 None 0 0
Entrez Id: 51360
Gene Symbol: MBTPS2
MBTPS2 		O43462 membrane bound transcription factor peptidase, site 2 Enzyme 205 0.513 0.769 1.00 0.100 None 0 0
Entrez Id: 27429
Gene Symbol: HTRA2
HTRA2 		O43464 HtrA serine peptidase 2 151 0.542 0.692 3.6E-03 0.100 None 0 0
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 175 0.537 0.654 1.00 0.100 None 0 0
Entrez Id: 11342
Gene Symbol: RNF13
RNF13 		O43567 ring finger protein 13 33 0.722 0.346 4.0E-04 0.100 None 0 0