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: 8242
Gene Symbol: KDM5C
KDM5C
P41229 lysine demethylase 5C 119 0.581 0.538 1.00 0.300 None 1.000 2 0 2008 2016
Entrez Id: 84706
Gene Symbol: GPT2
GPT2
Q8TD30 glutamic--pyruvic transaminase 2 Enzyme 63 0.650 0.577 3.4E-04 0.300 strong 1.000 1 0 2015 2015
Entrez Id: 6904
Gene Symbol: TBCD
TBCD
Q9BTW9 tubulin folding cofactor D Cellular structure 129 0.599 0.615 1.0E-07 0.100 None 0 0
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
P51812 ribosomal protein S6 kinase A3 Kinase 315 0.491 0.846 1.00 0.100 None 0 0
Entrez Id: 84504
Gene Symbol: NKX6-2
NKX6-2
Q9C056 NK6 homeobox 2 Transcription factor 47 0.695 0.500 2.9E-02 0.100 None 0 0
Entrez Id: 57165
Gene Symbol: GJC2
GJC2
Q5T442 gap junction protein gamma 2 Cell-cell junction 115 0.593 0.692 1.0E-02 0.100 None 0 0
Entrez Id: 85465
Gene Symbol: SELENOI
SELENOI
Q9C0D9 selenoprotein I Enzyme 29 0.769 0.385 0.64 0.100 None 0 0
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
Q6PI48 aspartyl-tRNA synthetase 2, mitochondrial Enzyme 92 0.638 0.577 9.8E-13 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
P54098 DNA polymerase gamma, catalytic subunit Enzyme 462 0.457 0.846 2.1E-09 0.100 None 0 0
Entrez Id: 51218
Gene Symbol: GLRX5
GLRX5
Q86SX6 glutaredoxin 5 Enzyme 70 0.659 0.538 0.75 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: 4204
Gene Symbol: MECP2
MECP2
P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.100 None 0 0
Entrez Id: 3329
Gene Symbol: HSPD1
HSPD1
P10809 heat shock protein family D (Hsp60) member 1 398 0.432 0.808 0.99 0.100 None 0 0
Entrez Id: 2581
Gene Symbol: GALC
GALC
P54803 galactosylceramidase 99 0.604 0.615 5.2E-15 0.100 None 0 0
Entrez Id: 8560
Gene Symbol: DEGS1
DEGS1
O15121 delta 4-desaturase, sphingolipid 1 73 0.621 0.731 0.14 0.100 None 0 0
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 1.000 1 1 1998 1998
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
P49768 presenilin 1 Enzyme 369 0.469 0.846 0.97 0.100 None 1.000 1 1 2014 2014
Entrez Id: 5915
Gene Symbol: RARB
RARB
P10826 retinoic acid receptor beta Nuclear receptor 254 0.478 0.846 1.00 0.100 None 0 1
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
Q5T160 arginyl-tRNA synthetase 2, mitochondrial 57 0.663 0.462 7.7E-14 0.100 None 0 2