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: 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: 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: 23347
Gene Symbol: SMCHD1
SMCHD1
A6NHR9 structural maintenance of chromosomes flexible hinge domain containing 1 80 0.631 0.615 1.00 0.010 None 1.000 1 0 2017 2017
Entrez Id: 402569
Gene Symbol: KPNA7
KPNA7
A9QM74 karyopherin subunit alpha 7 13 0.805 0.308 3.4E-15 0.010 None 1.000 1 0 2014 2014
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
F7VJQ1 P04156 prion protein 426 0.445 0.923 6.3E-04 0.010 None 1.000 1 0 2013 2013
Entrez Id: 3796
Gene Symbol: KIF2A
KIF2A
O00139 kinesin family member 2A Cellular structure 81 0.590 0.731 1.00 0.010 None 1.000 1 0 2017 2017
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B
O00238 bone morphogenetic protein receptor type 1B Kinase 145 0.573 0.615 1.00 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5293
Gene Symbol: PIK3CD
PIK3CD
O00329 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta Kinase 1119 0.319 0.885 1.00 0.010 None 1.000 1 0 2018 2018
Entrez Id: 2009
Gene Symbol: EML1
EML1
O00423 EMAP like 1 31 0.705 0.462 1.00 0.010 None 1.000 1 0 2017 2017
Entrez Id: 889
Gene Symbol: KRIT1
KRIT1
O00522 KRIT1 ankyrin repeat containing 201 0.500 0.808 6.9E-04 0.010 None 1.000 1 0 2019 2019
Entrez Id: 7476
Gene Symbol: WNT7A
WNT7A
O00755 Wnt family member 7A Signaling 182 0.531 0.692 3.6E-02 0.010 None 1.000 1 0 2017 2017