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: 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: 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: 4225
Gene Symbol: MEP1B
MEP1B 		Q16820 meprin A subunit beta Enzyme 4 0.931 0.115 1.9E-24 0.010 None 1.000 1 0 2017 2017
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: 10618
Gene Symbol: TGOLN2
TGOLN2 		O43493 trans-golgi network protein 2 Transporter 6 2.8E-03 0.010 None 1.000 1 0 2017 2017
Entrez Id: 283659
Gene Symbol: PRTG
PRTG 		Q2VWP7 protogenin 6 0.861 0.154 1.2E-07 0.010 None 1.000 1 0 2013 2013
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: 5161
Gene Symbol: PDHA2
PDHA2 		P29803 pyruvate dehydrogenase E1 subunit alpha 2 6 0.890 0.154 3.9E-09 0.010 None 1.000 1 0 2018 2018
Entrez Id: 54543
Gene Symbol: TOMM7
TOMM7 		Q9P0U1 translocase of outer mitochondrial membrane 7 6 1.000 0.077 9.8E-03 0.010 None 1.000 1 0 2018 2018
Entrez Id: 53820
Gene Symbol: RIPPLY3
RIPPLY3 		P57055 ripply transcriptional repressor 3 8 0.839 0.192 8.4E-02 0.020 None 0.500 2 0 2011 2018
Entrez Id: 22824
Gene Symbol: HSPA4L
HSPA4L 		O95757 heat shock protein family A (Hsp70) member 4 like 10 0.805 0.192 6.9E-07 0.010 None 1.000 1 0 2019 2019
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: 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: 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: 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 2018 2018
Entrez Id: 6543
Gene Symbol: SLC8A2
SLC8A2 		Q9UPR5 solute carrier family 8 member A2 Transporter 15 0.780 0.154 1.00 0.010 None 1.000 1 0 2009 2009
Entrez Id: 10286
Gene Symbol: BCAS2
BCAS2 		O75934 BCAS2 pre-mRNA processing factor Nucleic acid binding 17 0.769 0.269 2.8E-08 0.010 None 1.000 1 0 2016 2016
Entrez Id: 1005
Gene Symbol: CDH7
CDH7 		Q9ULB5 cadherin 7 18 0.769 0.231 0.60 0.010 None 1.000 1 0 2008 2008
Entrez Id: 255758
Gene Symbol: TCTEX1D2
TCTEX1D2 		Q8WW35 Tctex1 domain containing 2 Cellular structure 19 0.751 0.346 3.2E-04 0.010 None 1.000 1 0 2017 2017
Entrez Id: 79035
Gene Symbol: NABP2
NABP2 		Q9BQ15 nucleic acid binding protein 2 Nucleic acid binding 19 0.751 0.500 0.97 0.010 None 1.000 1 0 2013 2013
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: 84445
Gene Symbol: LZTS2
LZTS2 		Q9BRK4 leucine zipper tumor suppressor 2 22 0.743 0.346 4.6E-02 0.010 None 1.000 1 0 2007 2007
Entrez Id: 3310
Gene Symbol: HSPA6
HSPA6 		P17066 heat shock protein family A (Hsp70) member 6 23 0.743 0.423 6.8E-06 0.010 None 1.000 1 0 2019 2019
Entrez Id: 9807
Gene Symbol: IP6K1
IP6K1 		Q92551 inositol hexakisphosphate kinase 1 Kinase 23 0.792 0.269 0.93 0.010 None 1.000 1 0 2018 2018
Entrez Id: 25923
Gene Symbol: ATL3
ATL3 		Q6DD88 atlastin GTPase 3 Enzyme modulator 25 0.736 0.462 1.3E-09 0.010 None 1.000 1 1 2019 2019