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: 4747
Gene Symbol: NEFL
NEFL 		P07196 neurofilament light 247 0.488 0.769 0.300 None 0.972 36 9 2002 2019
Entrez Id: 338382
Gene Symbol: RAB7B
RAB7B 		Q96AH8 RAB7B, member RAS oncogene family 65 0.615 0.731 0.100 None 1.000 11 0 2003 2019
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: 4508
Gene Symbol: ATP6
ATP6 		P00846 ATP synthase F0 subunit 6 Transporter 226 0.541 0.731 0.140 None 1.000 4 1 2007 2017
Entrez Id: 158506
Gene Symbol: CBLL2
CBLL2 		Q8N7E2 Cbl proto-oncogene like 2 Enzyme 235 0.476 0.808 0.030 None 1.000 3 0 2005 2017
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: 6736
Gene Symbol: SRY
SRY 		Q05066 sex determining region Y Transcription factor 315 0.456 0.808 0.010 None 1.000 1 0 2009 2009
Entrez Id: 728411
Gene Symbol: GUSBP1
GUSBP1 		Q15486 GUSB pseudogene 1 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: 7273
Gene Symbol: TTN
TTN 		Q8WZ42 titin Kinase 366 0.470 0.885 2.6E-96 0.100 None 0 0
Entrez Id: 51168
Gene Symbol: MYO15A
MYO15A 		Q9UKN7 myosin XVA Cellular structure 26 0.722 0.346 1.3E-56 0.010 None 1.000 1 0 1999 1999
Entrez Id: 4640
Gene Symbol: MYO1A
MYO1A 		Q9UBC5 myosin IA Cellular structure 16 0.769 0.269 8.9E-46 0.010 None 1.000 1 0 2016 2016
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		Q96JI7 SPG11 vesicle trafficking associated, spatacsin 139 0.576 0.538 1.6E-39 0.020 None 1.000 2 0 2016 2016
Entrez Id: 1636
Gene Symbol: ACE
ACE 		P12821 angiotensin I converting enzyme Enzyme 1082 0.328 0.923 1.0E-37 0.010 None 1.000 1 0 2019 2019