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: 2632
Gene Symbol: GBE1
GBE1
Q04446 1,4-alpha-glucan branching enzyme 1 Enzyme 102 0.612 0.654 1.1E-12 0.020 None 1.000 2 0 2012 2013
Entrez Id: 18
Gene Symbol: ABAT
ABAT
P80404 4-aminobutyrate aminotransferase Enzyme 127 0.628 0.538 6.3E-03 0.100 None 0 0
Entrez Id: 51
Gene Symbol: ACOX1
ACOX1
Q15067 acyl-CoA oxidase 1 Enzyme 95 0.610 0.731 6.2E-02 0.110 None 1.000 1 0 2019 2019
Entrez Id: 134526
Gene Symbol: ACOT12
ACOT12
Q8WYK0 acyl-CoA thioesterase 12 Enzyme 9 0.805 0.192 2.7E-14 0.010 None 1.000 1 0 2009 2009
Entrez Id: 103
Gene Symbol: ADAR
ADAR
P55265 adenosine deaminase RNA specific Enzyme 256 0.501 0.808 2.6E-02 0.100 None 0 0
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
Q5JTZ9 alanyl-tRNA synthetase 2, mitochondrial Nucleic acid binding 64 0.644 0.500 5.0E-17 0.090 None 1.000 9 1 2014 2019
Entrez Id: 55331
Gene Symbol: ACER3
ACER3
Q9NUN7 alkaline ceramidase 3 31 0.743 0.423 0.87 0.110 None 1.000 1 1 2016 2016
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
Q8TCU4 ALMS1 centrosome and basal body associated protein 147 0.559 0.808 4.5E-60 0.100 None 0 1
Entrez Id: 9255
Gene Symbol: AIMP1
AIMP1
Q12904 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 Enzyme 125 0.566 0.769 3.0E-07 0.110 None 1.000 1 0 2019 2019
Entrez Id: 7965
Gene Symbol: AIMP2
AIMP2
Q13155 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 555 0.393 0.923 8.0E-03 0.100 None 0 0
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1
O95831 apoptosis inducing factor mitochondria associated 1 Enzyme 205 0.527 0.769 1.00 0.100 None 0 1
Entrez Id: 361
Gene Symbol: AQP4
AQP4
P55087 aquaporin 4 Ion channel 311 0.456 0.885 2.3E-03 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5917
Gene Symbol: RARS1
RARS1
P54136 arginyl-tRNA synthetase 1 94 0.604 0.538 3.3E-08 0.120 None 1.000 2 0 2018 2020
Entrez Id: 410
Gene Symbol: ARSA
ARSA
P15289 arylsulfatase A Enzyme 376 0.448 0.923 1.1E-11 0.110 None 1.000 1 1 2016 2016
Entrez Id: 443
Gene Symbol: ASPA
ASPA
P45381 aspartoacylase 123 0.564 0.731 4.1E-04 0.040 None 1.000 4 0 1993 2016
Entrez Id: 1615
Gene Symbol: DARS1
DARS1
P14868 aspartyl-tRNA synthetase 1 Enzyme 40 0.711 0.500 8.5E-06 0.120 None 1.000 2 1 2017 2018
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
Q6PI48 aspartyl-tRNA synthetase 2, mitochondrial Enzyme 92 0.638 0.577 9.8E-13 0.010 None 1.000 1 0 2017 2017
Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
Q9NP58 ATP binding cassette subfamily B member 6 (Langereis blood group) Transporter 400 0.431 0.885 8.6E-19 0.030 None 1.000 3 0 2017 2019
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
P33897 ATP binding cassette subfamily D member 1 Transporter 154 0.563 0.731 1.00 0.100 None 0 1
Entrez Id: 514
Gene Symbol: ATP5F1E
ATP5F1E
P56381 ATP synthase F1 subunit epsilon Transporter 37 0.686 0.500 8.9E-03 0.010 None 1.000 1 0 2007 2007
Entrez Id: 1822
Gene Symbol: ATN1
ATN1
P54259 atrophin 1 499 0.409 0.885 1.00 0.010 None 1.000 1 0 1999 1999
Entrez Id: 8455
Gene Symbol: ATRN
ATRN
O75882 attractin Enzyme modulator 17 0.751 0.462 1.00 0.010 None 1.000 1 0 2017 2017
Entrez Id: 388962
Gene Symbol: BOLA3
BOLA3
Q53S33 bolA family member 3 26 0.760 0.231 0.15 0.110 None 1.000 1 0 2018 2018
Entrez Id: 1373
Gene Symbol: CPS1
CPS1
P31327 carbamoyl-phosphate synthase 1 Enzyme 133 0.590 0.615 1.1E-09 0.010 None 1.000 1 0 2018 2018
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
P51788 chloride voltage-gated channel 2 Ion channel 67 0.626 0.462 5.5E-12 0.250 None 1.000 5 0 2014 2019