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: 5743
Gene Symbol: PTGS2
PTGS2 		P35354 prostaglandin-endoperoxide synthase 2 Enzyme 1234 0.314 0.962 1.00 0.010 None 1.000 1 0 1996 1996
Entrez Id: 2481
Gene Symbol: FRAXE
FRAXE 		fragile site, folic acid type, rare, fra(X)(q28) E 50 0.636 0.462 0.020 None 1.000 2 0 1997 1998
Entrez Id: 4763
Gene Symbol: NF1
NF1 		P21359 neurofibromin 1 Enzyme modulator 380 0.440 0.885 0.90 0.010 None 1.000 1 0 1998 1998
Entrez Id: 9318
Gene Symbol: COPS2
COPS2 		P61201 COP9 signalosome subunit 2 10 0.792 0.231 1.00 0.010 None 1.000 1 0 1998 1998
Entrez Id: 551
Gene Symbol: AVP
AVP 		P01185 arginine vasopressin Signaling 454 0.437 0.846 7.4E-02 0.010 None 1.000 1 0 1998 1998
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		O15305 phosphomannomutase 2 Enzyme 214 0.535 0.769 1.4E-17 0.010 None 1.000 1 0 1999 1999
Entrez Id: 4329
Gene Symbol: ALDH6A1
ALDH6A1 		Q02252 aldehyde dehydrogenase 6 family member A1 Enzyme 41 0.716 0.462 7.6E-10 0.010 None 1.000 1 0 2000 2000
Entrez Id: 9997
Gene Symbol: SCO2
SCO2 		O43819 synthesis of cytochrome C oxidase 2 Enzyme 294 0.479 0.846 7.5E-07 0.010 None 1.000 1 0 2001 2001
Entrez Id: 760
Gene Symbol: CA2
CA2 		P00918 carbonic anhydrase 2 210 0.506 0.808 1.7E-06 0.010 None 1.000 1 0 2001 2001
Entrez Id: 1406
Gene Symbol: CRX
CRX 		O43186 cone-rod homeobox Transcription factor 128 0.565 0.692 0.51 0.010 None < 0.001 1 0 2001 2001
Entrez Id: 2477
Gene Symbol: FRAXA
FRAXA 		fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) 50 0.641 0.462 0.020 None 1.000 2 0 1998 2002
Entrez Id: 6473
Gene Symbol: SHOX
SHOX 		O15266 short stature homeobox 138 0.561 0.654 0.67 0.010 None 1.000 1 0 2002 2002
Entrez Id: 1182
Gene Symbol: CLCN3
CLCN3 		P51790 chloride voltage-gated channel 3 Ion channel 67 0.621 0.615 1.00 0.010 None 1.000 1 0 2002 2002
Entrez Id: 7503
Gene Symbol: XIST
XIST 		X inactive specific transcript 146 0.522 0.808 0.010 None 1.000 1 0 2002 2002
Entrez Id: 10085
Gene Symbol: EDIL3
EDIL3 		O43854 EGF like repeats and discoidin domains 3 Enzyme 104 0.564 0.769 1.5E-04 0.010 None 1.000 1 0 2003 2003
Entrez Id: 152330
Gene Symbol: CNTN4
CNTN4 		Q8IWV2 contactin 4 Receptor 58 0.653 0.577 3.3E-06 0.010 None 1.000 1 0 2004 2004
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1 		P43699 NK2 homeobox 1 Transcription factor 319 0.457 0.808 0.36 0.010 None 1.000 1 0 2004 2004
Entrez Id: 8050
Gene Symbol: PDHX
PDHX 		O00330 pyruvate dehydrogenase complex component X Enzyme 93 0.595 0.692 9.7E-05 0.010 None 1.000 1 0 2004 2004
Entrez Id: 9254
Gene Symbol: CACNA2D2
CACNA2D2 		Q9NY47 calcium voltage-gated channel auxiliary subunit alpha2delta 2 Ion channel 78 0.626 0.615 1.00 0.300 strong 1.000 1 0 2004 2004
Entrez Id: 79796
Gene Symbol: ALG9
ALG9 		Q9H6U8 ALG9 alpha-1,2-mannosyltransferase Enzyme 80 0.644 0.654 6.4E-04 0.010 None 1.000 1 0 2004 2004
Entrez Id: 80207
Gene Symbol: OPA3
OPA3 		Q9H6K4 outer mitochondrial membrane lipid metabolism regulator OPA3 77 0.653 0.385 0.57 0.010 None 1.000 1 0 2005 2005
Entrez Id: 79139
Gene Symbol: DERL1
DERL1 		Q9BUN8 derlin 1 Receptor 85 0.576 0.654 2.1E-04 0.010 None 1.000 1 0 2005 2005
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		P42898 methylenetetrahydrofolate reductase 985 0.337 0.885 3.2E-10 0.010 None 1.000 1 0 2005 2005
Entrez Id: 4300
Gene Symbol: MLLT3
MLLT3 		P42568 MLLT3 super elongation complex subunit Nucleic acid binding 37 0.674 0.500 1.00 0.010 None 1.000 1 0 2005 2005
Entrez Id: 4070
Gene Symbol: TACSTD2
TACSTD2 		P09758 tumor associated calcium signal transducer 2 130 0.537 0.731 4.7E-03 0.010 None 1.000 1 0 2005 2005