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: 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: 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: 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: 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: 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: 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: 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: 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
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: 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: 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: 4017
Gene Symbol: LOXL2
LOXL2 		Q9Y4K0 lysyl oxidase like 2 149 0.527 0.731 3.4E-07 0.310 None 1.000 1 0 2005 2005
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1 		P17405 sphingomyelin phosphodiesterase 1 Enzyme 247 0.499 0.885 3.9E-10 0.200 None 1.000 1 0 2007 2007
Entrez Id: 3156
Gene Symbol: HMGCR
HMGCR 		P04035 3-hydroxy-3-methylglutaryl-CoA reductase 154 0.529 0.692 1.00 0.200 None 1.000 1 0 2007 2007
Entrez Id: 51280
Gene Symbol: GOLM1
GOLM1 		Q8NBJ4 golgi membrane protein 1 100 0.560 0.692 9.6E-09 0.010 None 1.000 1 0 2009 2009
Entrez Id: 7068
Gene Symbol: THRB
THRB 		P10828 thyroid hormone receptor beta Nuclear receptor 142 0.554 0.769 1.00 0.010 None 1.000 1 0 2009 2009
Entrez Id: 331
Gene Symbol: XIAP
XIAP 		P98170 X-linked inhibitor of apoptosis Enzyme modulator 321 0.447 0.808 0.92 0.010 None 1.000 1 0 2010 2010
Entrez Id: 308
Gene Symbol: ANXA5
ANXA5 		P08758 annexin A5 283 0.458 0.769 3.8E-15 0.500 None 1.000 1 0 2011 2011
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		P42898 methylenetetrahydrofolate reductase 985 0.337 0.885 3.2E-10 0.010 None 1.000 1 1 2011 2011
Entrez Id: 3552
Gene Symbol: IL1A
IL1A 		P01583 interleukin 1 alpha 1002 0.333 0.962 1.6E-04 0.010 None 1.000 1 0 2011 2011
Entrez Id: 3554
Gene Symbol: IL1R1
IL1R1 		P14778 interleukin 1 receptor type 1 Receptor 184 0.509 0.769 0.15 0.010 None 1.000 1 1 2011 2011