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: 7390
Gene Symbol: UROS
UROS 		P10746 uroporphyrinogen III synthase Enzyme 58 0.678 0.462 3.2E-02 0.100 None 0 0
Entrez Id: 79587
Gene Symbol: CARS2
CARS2 		Q9HA77 cysteinyl-tRNA synthetase 2, mitochondrial Enzyme 49 0.700 0.423 9.6E-08 0.100 None 0 0
Entrez Id: 2629
Gene Symbol: GBA
GBA 		P04062 glucosylceramidase beta 319 0.500 0.808 1.4E-06 0.100 None 0 0
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2 		P08686 cytochrome P450 family 21 subfamily A member 2 166 0.525 0.769 2.6E-04 0.100 None 0 1
Entrez Id: 2623
Gene Symbol: GATA1
GATA1 		P15976 GATA binding protein 1 264 0.483 0.808 0.95 0.100 None 0 0
Entrez Id: 3930
Gene Symbol: LBR
LBR 		Q14739 lamin B receptor Enzyme 307 0.473 0.808 0.18 0.100 None 0 0
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		P08123 collagen type I alpha 2 chain 271 0.486 0.846 1.00 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		P02452 collagen type I alpha 1 chain 487 0.430 0.808 1.00 0.100 None 0 0
Entrez Id: 441151
Gene Symbol: TMEM151B
TMEM151B 		Q8IW70 transmembrane protein 151B 12 0.792 0.346 0.14 0.100 None 0 1
Entrez Id: 54345
Gene Symbol: SOX18
SOX18 		P35713 SRY-box transcription factor 18 Transcription factor 112 0.578 0.692 0.15 0.100 None 0 0
Entrez Id: 3039
Gene Symbol: HBA1
HBA1 		P69905 hemoglobin subunit alpha 1 200 0.508 0.808 6.7E-03 0.300 strong 1.000 1 0 2013 2013
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1 		Q13510 N-acylsphingosine amidohydrolase 1 Enzyme 176 0.526 0.808 1.3E-12 0.300 strong 1.000 1 0 1996 1996
Entrez Id: 147372
Gene Symbol: CCBE1
CCBE1 		Q6UXH8 collagen and calcium binding EGF domains 1 Calcium-binding protein 127 0.585 0.769 1.5E-07 0.300 None 1.000 1 0 2010 2010
Entrez Id: 3040
Gene Symbol: HBA2
HBA2 		P69905 hemoglobin subunit alpha 2 182 0.512 0.808 3.1E-03 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		Q5JTZ9 alanyl-tRNA synthetase 2, mitochondrial Nucleic acid binding 64 0.644 0.500 5.0E-17 0.110 None 1.000 1 2 2018 2018
Entrez Id: 4758
Gene Symbol: NEU1
NEU1 		Q99519 neuraminidase 1 Enzyme 207 0.513 0.769 7.3E-05 0.110 None 1.000 1 2 2005 2005
Entrez Id: 79623
Gene Symbol: GALNT14
GALNT14 		Q96FL9 polypeptide N-acetylgalactosaminyltransferase 14 Enzyme 48 0.631 0.538 7.1E-17 0.100 None 1.000 1 1 2015 2015
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1 		P02708 cholinergic receptor nicotinic alpha 1 subunit Ion channel 109 0.615 0.577 2.1E-08 0.100 None 1.000 1 1 2015 2015
Entrez Id: 92346
Gene Symbol: C1orf105
C1orf105 		O95561 chromosome 1 open reading frame 105 7 0.931 0.192 1.1E-05 0.100 None 1.000 1 1 2015 2015
Entrez Id: 5476
Gene Symbol: CTSA
CTSA 		P10619 cathepsin A Enzyme 73 0.619 0.731 5.9E-09 0.100 None 1.000 1 1 2015 2015
Entrez Id: 4703
Gene Symbol: NEB
NEB 		P20929 nebulin 148 0.608 0.692 4.6E-41 0.100 None 1.000 1 1 2015 2015
Entrez Id: 8736
Gene Symbol: MYOM1
MYOM1 		P52179 myomesin 1 5 0.839 0.269 1.7E-40 0.100 None 1.000 1 1 2015 2015
Entrez Id: 8323
Gene Symbol: FZD6
FZD6 		O60353 frizzled class receptor 6 G-protein coupled receptor 57 0.623 0.615 2.0E-12 0.100 None 1.000 1 1 2015 2015
Entrez Id: 29855
Gene Symbol: UBN1
UBN1 		Q9NPG3 ubinuclein 1 11 0.839 0.385 1.00 0.100 None 1.000 1 1 2015 2015
Entrez Id: 5279
Gene Symbol: PIGC
PIGC 		Q92535 phosphatidylinositol glycan anchor biosynthesis class C Enzyme 55 0.691 0.346 5.5E-03 0.100 None 1.000 1 1 2015 2015