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: 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: 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: 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: 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: 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: 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: 84172
Gene Symbol: POLR1B
POLR1B 		Q9H9Y6 RNA polymerase I subunit B Enzyme 4 0.931 0.192 1.00 0.010 None 1.000 1 0 2020 2020
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: 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: 145282
Gene Symbol: MIPOL1
MIPOL1 		Q8TD10 mirror-image polydactyly 1 11 0.890 0.192 2.1E-11 0.010 None 1.000 1 0 2020 2020
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: 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: 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: 11198
Gene Symbol: SUPT16H
SUPT16H 		Q9Y5B9 SPT16 homolog, facilitates chromatin remodeling subunit Transcription factor 11 0.861 0.192 1.00 0.010 None 1.000 1 0 2019 2019
Entrez Id: 2016
Gene Symbol: EMX1
EMX1 		Q04741 empty spiracles homeobox 1 Transcription factor 9 0.861 0.231 0.90 0.010 None 1.000 1 0 2019 2019
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: 4736
Gene Symbol: RPL10A
RPL10A 		P62906 ribosomal protein L10a Nucleic acid binding 8 0.861 0.192 0.85 0.010 None 1.000 1 0 2019 2019
Entrez Id: 6152
Gene Symbol: RPL24
RPL24 		P83731 ribosomal protein L24 Nucleic acid binding 8 0.861 0.192 0.64 0.010 None 1.000 1 0 2009 2009
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: 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: 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