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: 170474
Gene Symbol: HFM
HFM 		Hemifacial microsomia 22 0.722 0.385 0.030 None 1.000 3 0 2001 2019
Entrez Id: 791121
Gene Symbol: SHFL1
SHFL1 		Split-hand/foot malformation with long bone deficiency 1 3 1.000 0.038 0.020 None 1.000 2 0 2013 2014
Entrez Id: 100049542
Gene Symbol: SHFM3
SHFM3 		Split-hand/foot malformation 3 13 0.780 0.115 0.010 None 1.000 1 0 2006 2006
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		RNA, U4atac small nuclear (U12-dependent splicing) 199 0.556 0.808 0.010 None 1.000 1 0 2011 2011
Entrez Id: 100528016
Gene Symbol: TMX2-CTNND1
TMX2-CTNND1 		TMX2-CTNND1 readthrough (NMD candidate) 138 0.538 0.769 0.010 None 1.000 1 0 2019 2019
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		NPHP3-ACAD11 readthrough (NMD candidate) 82 0.663 0.577 0.010 None 1.000 1 0 2013 2013
Entrez Id: 102724560
Gene Symbol: CBSL
CBSL 		P0DN79 P35520 cystathionine beta-synthase like 129 0.540 0.808 0.010 None 1.000 1 0 2008 2008
Entrez Id: 115482684
Gene Symbol: H3P9
H3P9 		H3 histone pseudogene 9 177 0.505 0.731 0.010 None 1.000 1 0 2018 2018
Entrez Id: 115482706
Gene Symbol: H3P47
H3P47 		H3 histone pseudogene 47 65 0.603 0.538 0.010 None 1.000 1 0 2011 2011
Entrez Id: 115482713
Gene Symbol: H3P10
H3P10 		H3 histone pseudogene 10 769 0.350 0.846 0.010 None 1.000 1 0 2018 2018
Entrez Id: 170
Gene Symbol: AFA
AFA 		ankyloblepharon filiforme adnatum 12 0.792 0.462 0.010 None 1.000 1 0 2010 2010
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.010 None 1.000 1 0 2016 2016
Entrez Id: 339476
Gene Symbol: ERVMER61-1
ERVMER61-1 		endogenous retrovirus group MER61 member 1 6 0.890 0.115 0.010 None < 0.001 1 0 2013 2013
Entrez Id: 470
Gene Symbol: ATHS
ATHS 		atherosclerosis susceptibility (lipoprotein associated) 112 0.551 0.769 0.010 None 1.000 1 0 2019 2019
Entrez Id: 4964
Gene Symbol: OFC2
OFC2 		orofacial cleft 2 4 0.931 0.115 0.010 None 1.000 1 0 1998 1998
Entrez Id: 5175
Gene Symbol: PECAM1
PECAM1 		P16284 platelet and endothelial cell adhesion molecule 1 Cell adhesion 396 0.426 0.846 0.010 None 1.000 1 0 2015 2015
Entrez Id: 55384
Gene Symbol: MEG3
MEG3 		maternally expressed 3 239 0.471 0.846 0.010 None 1.000 1 0 2002 2002
Entrez Id: 791229
Gene Symbol: MACOM
MACOM 		macrophthalmia, colobomatous, with microcornea 3 1.000 0.077 0.010 None 1.000 1 0 2007 2007
Entrez Id: 9994
Gene Symbol: CASP8AP2
CASP8AP2 		Q9UKL3 caspase 8 associated protein 2 Transcription factor 50 0.659 0.500 0.010 None 1.000 1 0 2018 2018
Entrez Id: 6098
Gene Symbol: ROS1
ROS1 		P08922 ROS proto-oncogene 1, receptor tyrosine kinase Kinase 356 0.439 0.885 1.6E-72 0.020 None 1.000 2 0 2017 2018
Entrez Id: 7038
Gene Symbol: TG
TG 		P01266 thyroglobulin Enzyme modulator 240 0.480 0.808 2.9E-59 0.010 None 1.000 1 0 2017 2017
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		P13569 CF transmembrane conductance regulator Ion channel 476 0.424 0.885 2.2E-58 0.010 None 1.000 1 0 2019 2019
Entrez Id: 259266
Gene Symbol: ASPM
ASPM 		Q8IZT6 abnormal spindle microtubule assembly 159 0.526 0.769 3.4E-49 0.010 None 1.000 1 0 2005 2005
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		P08F94 PKHD1 ciliary IPT domain containing fibrocystin/polyductin 115 0.576 0.654 1.2E-47 0.010 None 1.000 1 0 2017 2017
Entrez Id: 9381
Gene Symbol: OTOF
OTOF 		Q9HC10 otoferlin Transporter 34 0.691 0.385 5.4E-39 0.010 None 1.000 1 0 2015 2015