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: 8621
Gene Symbol: CDK13
CDK13
Q14004 cyclin dependent kinase 13 Kinase 141 0.606 0.692 0.91 0.100 None 1.000 1 1 2017 2017
Entrez Id: 10243
Gene Symbol: GPHN
GPHN
Q9NQX3 gephyrin 104 0.608 0.538 1.00 0.100 None 0 0
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
O60313 OPA1 mitochondrial dynamin like GTPase Enzyme modulator 236 0.510 0.846 0.99 0.100 None 0 0
Entrez Id: 53
Gene Symbol: ACP2
ACP2
P11117 acid phosphatase 2, lysosomal Enzyme 16 0.780 0.346 6.2E-05 0.100 None 0 0
Entrez Id: 54820
Gene Symbol: NDE1
NDE1
Q9NXR1 nudE neurodevelopment protein 1 92 0.608 0.462 6.7E-03 0.100 None 0 0
Entrez Id: 55275
Gene Symbol: VPS53
VPS53
Q5VIR6 VPS53 subunit of GARP complex 49 0.659 0.654 1.4E-07 0.100 None 0 0
Entrez Id: 56922
Gene Symbol: MCCC1
MCCC1
Q96RQ3 methylcrotonoyl-CoA carboxylase 1 Enzyme 42 0.700 0.308 4.0E-12 0.100 None 0 0
Entrez Id: 5805
Gene Symbol: PTS
PTS
Q03393 6-pyruvoyltetrahydropterin synthase 89 0.636 0.654 6.5E-06 0.100 None 0 0
Entrez Id: 64087
Gene Symbol: MCCC2
MCCC2
Q9HCC0 methylcrotonoyl-CoA carboxylase 2 Enzyme 50 0.674 0.423 4.5E-11 0.100 None 0 0
Entrez Id: 7284
Gene Symbol: TUFM
TUFM
P49411 Tu translation elongation factor, mitochondrial Enzyme 45 0.678 0.615 4.2E-03 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: 80025
Gene Symbol: PANK2
PANK2
Q9BZ23 pantothenate kinase 2 Kinase 171 0.559 0.808 7.4E-07 0.100 None 0 0
Entrez Id: 80746
Gene Symbol: TSEN2
TSEN2
Q8NCE0 tRNA splicing endonuclease subunit 2 Enzyme 44 0.705 0.423 1.0E-11 0.100 None 0 0
Entrez Id: 81570
Gene Symbol: CLPB
CLPB
Q9H078 caseinolytic mitochondrial matrix peptidase chaperone subunit B 72 0.631 0.654 5.0E-04 0.100 None 0 0
Entrez Id: 9244
Gene Symbol: CRLF1
CRLF1
O75462 cytokine receptor like factor 1 Signaling 97 0.597 0.654 4.0E-05 0.100 None 0 0
Entrez Id: 443
Gene Symbol: ASPA
ASPA
P45381 aspartoacylase 123 0.564 0.731 4.1E-04 0.100 None 0 0
Entrez Id: 440138
Gene Symbol: ALG11
ALG11
Q2TAA5 ALG11 alpha-1,2-mannosyltransferase 47 0.722 0.346 6.2E-09 0.100 None 0 0
Entrez Id: 132158
Gene Symbol: GLYCTK
GLYCTK
Q8IVS8 glycerate kinase Kinase 23 0.751 0.308 9.7E-11 0.100 None 0 0
Entrez Id: 158
Gene Symbol: ADSL
ADSL
P30566 adenylosuccinate lyase Enzyme 84 0.631 0.654 8.9E-12 0.100 None 0 0
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
P00387 cytochrome b5 reductase 3 73 0.638 0.654 1.9E-04 0.100 None 0 0
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
Q9Y6X0 SET binding protein 1 257 0.503 0.808 1.00 0.100 None 0 0
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
O43175 phosphoglycerate dehydrogenase Enzyme 288 0.484 0.885 1.3E-04 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: 2639
Gene Symbol: GCDH
GCDH
Q92947 glutaryl-CoA dehydrogenase 72 0.691 0.385 4.9E-03 0.100 None 0 0
Entrez Id: 283989
Gene Symbol: TSEN54
TSEN54
Q7Z6J9 tRNA splicing endonuclease subunit 54 72 0.659 0.500 1.8E-07 0.100 None 0 0