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: 1254
Gene Symbol: CMTX3
CMTX3 		Charcot-Marie-Tooth neuropathy, X-linked 3 (dominant) 8 0.821 0.154 0.040 None 1.000 4 0 2006 2018
Entrez Id: 6012
Gene Symbol: RIEG2
RIEG2 		Rieger syndrome 2 38 0.674 0.462 0.020 None 1.000 2 0 2010 2016
Entrez Id: 11039
Gene Symbol: GUSBP14
GUSBP14 		GUSB pseudogene 14 8 0.839 0.077 0.010 None 1.000 1 0 2008 2008
Entrez Id: 1253
Gene Symbol: CMTX2
CMTX2 		Charcot-Marie-Tooth neuropathy, X-linked 2 (recessive) 1 1.000 0.077 0.010 None 1.000 1 0 1995 1995
Entrez Id: 1689
Gene Symbol: DFNA7
DFNA7 		deafness, autosomal dominant 7 5 0.861 0.154 0.010 None 1.000 1 0 2008 2008
Entrez Id: 2630
Gene Symbol: GBAP1
GBAP1 		glucosylceramidase beta pseudogene 1 64 0.623 0.538 0.010 None 1.000 1 0 2008 2008
Entrez Id: 2728
Gene Symbol: GLC3B
GLC3B 		glaucoma 3, primary infantile, B 11 0.769 0.154 0.010 None 1.000 1 0 1996 1996
Entrez Id: 317664
Gene Symbol: DFNA49
DFNA49 		deafness, autosomal dominant 49 5 0.861 0.154 0.010 None 1.000 1 0 2008 2008
Entrez Id: 3258
Gene Symbol: HPT
HPT 		hypoparathyroidism 71 0.593 0.692 0.010 None 1.000 1 0 2017 2017
Entrez Id: 407021
Gene Symbol: MIR29A
MIR29A 		microRNA 29a 278 0.459 0.808 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5640
Gene Symbol: PRS
PRS 		Prieto X-linked mental retardation syndrome 42 0.663 0.615 0.010 None 1.000 1 0 2018 2018
Entrez Id: 653188
Gene Symbol: GUSBP3
GUSBP3 		GUSB pseudogene 3 5 0.861 0.077 0.010 None 1.000 1 0 2008 2008
Entrez Id: 7824
Gene Symbol: D1S111
D1S111 		Minisatellite 33.6 2 0.931 0.115 0.010 None 1.000 1 0 1992 1992
Entrez Id: 7880
Gene Symbol: MBS2
MBS2 		Moebius syndrome 2 3 0.931 0.115 0.010 None 1.000 1 0 2000 2000
Entrez Id: 9542
Gene Symbol: NRG2
NRG2 		O14511 neuregulin 2 Signaling 15 0.780 0.308 1.00 0.010 None 1.000 1 0 1999 1999
Entrez Id: 9639
Gene Symbol: ARHGEF10
ARHGEF10 		O15013 Rho guanine nucleotide exchange factor 10 Enzyme 29 0.729 0.577 6.8E-30 0.130 None 1.000 4 4 2014 2017
Entrez Id: 8864
Gene Symbol: PER2
PER2 		O15055 period circadian regulator 2 Transcription factor 238 0.488 0.846 0.71 0.010 None 1.000 1 0 2016 2016
Entrez Id: 11079
Gene Symbol: RER1
RER1 		O15258 retention in endoplasmic reticulum sorting receptor 1 14 0.821 0.231 0.38 0.010 None 1.000 1 0 2014 2014
Entrez Id: 10558
Gene Symbol: SPTLC1
SPTLC1 		O15269 serine palmitoyltransferase long chain base subunit 1 Enzyme 63 0.650 0.538 4.2E-11 0.310 strong 1.000 2 0 2004 2018
Entrez Id: 9517
Gene Symbol: SPTLC2
SPTLC2 		O15270 serine palmitoyltransferase long chain base subunit 2 Enzyme 29 0.736 0.346 0.78 0.300 strong 1.000 1 0 2010 2010
Entrez Id: 8731
Gene Symbol: RNMT
RNMT 		O43148 RNA guanine-7 methyltransferase 46 0.647 0.500 5.7E-05 0.100 None 1.000 62 0 1988 2018
Entrez Id: 10018
Gene Symbol: BCL2L11
BCL2L11 		O43521 BCL2 like 11 173 0.510 0.731 0.89 0.010 None < 0.001 1 0 2017 2017
Entrez Id: 9997
Gene Symbol: SCO2
SCO2 		O43819 synthesis of cytochrome C oxidase 2 Enzyme 294 0.479 0.846 7.5E-07 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		O60260 parkin RBR E3 ubiquitin protein ligase Enzyme 409 0.431 0.846 6.9E-07 0.030 None 1.000 3 0 2005 2017
Entrez Id: 8888
Gene Symbol: MCM3AP
MCM3AP 		O60318 minichromosome maintenance complex component 3 associated protein 58 0.647 0.654 5.2E-09 0.020 None 1.000 2 0 2008 2017