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: 540
Gene Symbol: ATP7B
ATP7B 		P35670 ATPase copper transporting beta Transporter 182 0.529 0.654 4.8E-30 1.000 definitive 0.980 494 326 1983 2020
Entrez Id: 2098
Gene Symbol: ESD
ESD 		P10768 esterase D Enzyme 48 0.656 0.615 5.4E-07 0.100 None 0.923 13 0 1985 2019
Entrez Id: 1356
Gene Symbol: CP
CP 		P00450 ceruloplasmin Enzyme 283 0.466 0.846 4.2E-10 0.400 None 0.906 53 1 1987 2020
Entrez Id: 213
Gene Symbol: ALB
ALB 		P02768 albumin Transporter 1198 0.317 0.962 0.64 0.030 None 1.000 3 0 1987 2019
Entrez Id: 5925
Gene Symbol: RB1
RB1 		P06400 RB transcriptional corepressor 1 Nucleic acid binding 339 0.444 0.885 1.00 0.010 None 1.000 1 0 1988 1988
Entrez Id: 1594
Gene Symbol: CYP27B1
CYP27B1 		O15528 cytochrome P450 family 27 subfamily B member 1 Enzyme 229 0.502 0.769 1.9E-07 0.200 None 1.000 1 0 1988 1988
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		Q04656 ATPase copper transporting alpha Transporter 348 0.494 0.769 1.00 0.290 None 1.000 10 0 1993 2019
Entrez Id: 4015
Gene Symbol: LOX
LOX 		P28300 lysyl oxidase 328 0.447 0.846 0.99 0.320 None 1.000 2 0 1997 2005
Entrez Id: 475
Gene Symbol: ATOX1
ATOX1 		O00244 antioxidant 1 copper chaperone 40 0.656 0.500 0.59 0.100 None 0.846 13 0 1999 2019
Entrez Id: 1317
Gene Symbol: SLC31A1
SLC31A1 		O15431 solute carrier family 31 member 1 Transporter 71 0.612 0.577 6.5E-02 0.030 None 1.000 3 0 1999 2017
Entrez Id: 410
Gene Symbol: ARSA
ARSA 		P15289 arylsulfatase A Enzyme 376 0.448 0.923 1.1E-11 0.020 None 1.000 2 0 1999 2004
Entrez Id: 1756
Gene Symbol: DMD
DMD 		P11532 dystrophin 484 0.423 0.923 1.00 0.010 None 1.000 1 0 1999 1999
Entrez Id: 1318
Gene Symbol: SLC31A2
SLC31A2 		O15432 solute carrier family 31 member 2 Transporter 13 0.780 0.423 8.5E-05 0.010 None 1.000 1 0 1999 1999
Entrez Id: 7439
Gene Symbol: BEST1
BEST1 		O76090 bestrophin 1 Ion channel 292 0.465 0.885 1.8E-12 0.010 None 1.000 1 0 1999 1999
Entrez Id: 348
Gene Symbol: APOE
APOE 		P02649 apolipoprotein E 1049 0.338 0.962 1.9E-03 0.360 None 1.000 6 3 2000 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53 		P04637 tumor protein p53 Transcription factor 2494 0.236 0.962 0.53 0.030 None 1.000 3 0 2000 2013
Entrez Id: 60502
Gene Symbol: CPAT1
CPAT1 		cerebral palsy, ataxic 1 34 0.674 0.654 0.010 None 1.000 1 0 2000 2000
Entrez Id: 4706
Gene Symbol: NDUFAB1
NDUFAB1 		O14561 NADH:ubiquinone oxidoreductase subunit AB1 Transporter 45 0.656 0.692 0.53 0.010 None 1.000 1 0 2000 2000
Entrez Id: 2395
Gene Symbol: FXN
FXN 		Q16595 frataxin Enzyme 220 0.510 0.654 0.34 0.020 None 1.000 2 0 2001 2003
Entrez Id: 6687
Gene Symbol: SPG7
SPG7 		Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 419 0.436 0.885 2.0E-36 0.010 None 1.000 1 0 2001 2001
Entrez Id: 5368
Gene Symbol: PNOC
PNOC 		Q13519 prepronociceptin Signaling 103 0.603 0.577 1.5E-02 0.020 None 1.000 2 0 2002 2002
Entrez Id: 7520
Gene Symbol: XRCC5
XRCC5 		P13010 X-ray repair cross complementing 5 Enzyme 113 0.554 0.808 1.00 0.010 None 1.000 1 0 2002 2002
Entrez Id: 3077
Gene Symbol: HFE
HFE 		Q30201 homeostatic iron regulator 415 0.436 0.846 2.6E-08 0.070 None 1.000 7 0 2003 2012
Entrez Id: 9973
Gene Symbol: CCS
CCS 		O14618 copper chaperone for superoxide dismutase Enzyme 56 0.628 0.423 8.6E-08 0.010 None 1.000 1 0 2003 2003
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		O60313 OPA1 mitochondrial dynamin like GTPase Enzyme modulator 236 0.510 0.846 0.99 0.010 None 1.000 1 0 2003 2003