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: 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: 401498
Gene Symbol: TMEM215
TMEM215
Q68D42 transmembrane protein 215 2 4.1E-03 0.010 None 1.000 1 0 2019 2019
Entrez Id: 57062
Gene Symbol: DDX24
DDX24
Q9GZR7 DEAD-box helicase 24 2 0.68 0.010 None 1.000 1 0 2019 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: 283298
Gene Symbol: OLFML1
OLFML1
Q6UWY5 olfactomedin like 1 Cellular structure 2 1.000 0.038 1.6E-08 0.010 None 1.000 1 0 2018 2018
Entrez Id: 8228
Gene Symbol: PNPLA4
PNPLA4
P41247 patatin like phospholipase domain containing 4 5 0.890 0.038 2.6E-03 0.010 None < 0.001 1 0 2019 2019
Entrez Id: 129804
Gene Symbol: FBLN7
FBLN7
Q53RD9 fibulin 7 14 0.780 0.077 8.4E-06 0.010 None 1.000 1 0 2014 2014
Entrez Id: 359845
Gene Symbol: RFLNB
RFLNB
Q8N5W9 refilin B 3 0.931 0.077 0.27 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: 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: 9363
Gene Symbol: RAB33A
RAB33A
Q14088 RAB33A, member RAS oncogene family 3 0.931 0.077 0.82 0.010 None < 0.001 1 0 2019 2019
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: 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: 399565
Gene Symbol: GLC3C
GLC3C
glaucoma 3, primary congenital, C 2 1.000 0.115 0.010 None < 0.001 1 0 2011 2011
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: 6157
Gene Symbol: RPL27A
RPL27A
P46776 ribosomal protein L27a Nucleic acid binding 11 0.890 0.115 0.91 0.010 None 1.000 1 0 2016 2016
Entrez Id: 84034
Gene Symbol: EMILIN2
EMILIN2
Q9BXX0 elastin microfibril interfacer 2 9 0.861 0.115 1.6E-14 0.010 None 1.000 1 0 2015 2015
Entrez Id: 84071
Gene Symbol: ARMC2
ARMC2
Q8NEN0 armadillo repeat containing 2 21 0.805 0.115 2.5E-09 0.010 None 1.000 1 0 2019 2019
Entrez Id: 84910
Gene Symbol: TMEM87B
TMEM87B
Q96K49 transmembrane protein 87B 16 0.861 0.115 3.7E-13 0.010 None 1.000 1 0 2014 2014
Entrez Id: 8830
Gene Symbol: PTLAH
PTLAH
patella aplasia-hypoplasia 3 0.931 0.115 0.010 None 1.000 1 0 1999 1999
Entrez Id: 11101
Gene Symbol: ATE1
ATE1
O95260 arginyltransferase 1 14 0.821 0.154 4.1E-02 0.010 None 1.000 1 0 2016 2016
Entrez Id: 26164
Gene Symbol: MTG2
MTG2
Q9H4K7 mitochondrial ribosome associated GTPase 2 5 0.931 0.154 3.3E-04 0.010 None 1.000 1 0 2011 2011
Entrez Id: 266719
Gene Symbol: RRDX
RRDX
Radial ray deficiency 10 0.805 0.154 0.010 None 1.000 1 0 2013 2013
Entrez Id: 2728
Gene Symbol: GLC3B
GLC3B
glaucoma 3, primary infantile, B 11 0.769 0.154 0.010 None < 0.001 1 0 2011 2011