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: 11253
Gene Symbol: MAN1B1
MAN1B1
Q9UKM7 mannosidase alpha class 1B member 1 Chaperone 115 0.606 0.577 1.2E-08 0.100 None 0 0
Entrez Id: 55777
Gene Symbol: MBD5
MBD5
Q9P267 methyl-CpG binding domain protein 5 120 0.581 0.808 1.00 0.010 None 1.000 1 0 2019 2019
Entrez Id: 9056
Gene Symbol: SLC7A7
SLC7A7
Q9UM01 solute carrier family 7 member 7 Transporter 122 0.603 0.654 8.0E-07 0.100 None 0 0
Entrez Id: 8195
Gene Symbol: MKKS
MKKS
Q9NPJ1 McKusick-Kaufman syndrome 123 0.566 0.692 2.1E-09 0.010 None 1.000 1 0 2005 2005
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
A2RRP1 NBAS subunit of NRZ tethering complex 123 0.566 0.692 5.0E-43 0.100 None 0 0
Entrez Id: 64919
Gene Symbol: BCL11B
BCL11B
Q9C0K0 BAF chromatin remodeling complex subunit BCL11B Transcription factor 123 0.568 0.731 0.99 0.100 None 0 0
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1
P32322 pyrroline-5-carboxylate reductase 1 126 0.570 0.654 2.0E-04 0.660 limited 1.000 10 5 2009 2019
Entrez Id: 30008
Gene Symbol: EFEMP2
EFEMP2
O95967 EGF containing fibulin extracellular matrix protein 2 Calcium-binding protein 126 0.559 0.692 8.2E-03 0.650 limited 1.000 6 0 2010 2016
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10
O95528 solute carrier family 2 member 10 Transporter 135 0.550 0.615 1.6E-08 0.100 None 0 0
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
Q8NEZ3 WD repeat domain 19 143 0.554 0.769 4.6E-11 0.100 None 0 0
Entrez Id: 10516
Gene Symbol: FBLN5
FBLN5
Q9UBX5 fibulin 5 Calcium-binding protein 150 0.546 0.692 1.00 0.700 limited 1.000 15 5 2002 2018
Entrez Id: 23545
Gene Symbol: ATP6V0A2
ATP6V0A2
Q9Y487 ATPase H+ transporting V0 subunit a2 Transporter 158 0.570 0.692 2.6E-11 0.200 None 1.000 10 0 2008 2019
Entrez Id: 51085
Gene Symbol: MLXIPL
MLXIPL
Q9NP71 MLX interacting protein like 165 0.554 0.731 4.8E-02 0.100 None 0 0
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
P23352 anosmin 1 166 0.537 0.769 1.00 0.010 None 1.000 1 0 2005 2005
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
O95255 ATP binding cassette subfamily C member 6 Transporter 181 0.540 0.654 5.6E-35 0.100 None 0 1
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
Q9P2L0 WD repeat domain 35 188 0.525 0.692 1.0E-22 0.100 None 0 0
Entrez Id: 2042
Gene Symbol: EPHA3
EPHA3
P29320 EPH receptor A3 Kinase 193 0.497 0.692 1.2E-05 0.010 None 1.000 1 0 2018 2018
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1
P20908 collagen type V alpha 1 chain 199 0.536 0.769 1.00 0.100 None 0 1
Entrez Id: 8260
Gene Symbol: NAA10
NAA10
P41227 N-alpha-acetyltransferase 10, NatA catalytic subunit Enzyme 199 0.535 0.692 0.76 0.100 None 0 0
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 206 0.551 0.769 8.1E-04 0.140 None 1.000 4 1 2011 2018
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
O15305 phosphomannomutase 2 Enzyme 214 0.535 0.769 1.4E-17 0.010 None 1.000 1 0 2014 2014
Entrez Id: 9469
Gene Symbol: CHST3
CHST3
Q7LGC8 carbohydrate sulfotransferase 3 214 0.517 0.846 7.2E-03 0.100 None 0 0
Entrez Id: 4321
Gene Symbol: MMP12
MMP12
P39900 matrix metallopeptidase 12 Enzyme 216 0.484 0.885 0.010 None 1.000 1 0 2008 2008
Entrez Id: 2934
Gene Symbol: GSN
GSN
P06396 gelsolin Cellular structure 262 0.475 0.885 3.9E-11 0.130 None 1.000 3 1 2009 2019
Entrez Id: 22915
Gene Symbol: MMRN1
MMRN1
Q13201 multimerin 1 272 0.465 0.846 2.1E-25 0.010 None 1.000 1 0 2005 2005