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: 1121
Gene Symbol: CHM
CHM
P24386 CHM Rab escort protein Enzyme 82 0.592 0.654 1.00 0.010 None 1.000 1 0 2002 2002
Entrez Id: 1183
Gene Symbol: CLCN4
CLCN4
P51793 chloride voltage-gated channel 4 Ion channel 114 0.587 0.654 1.00 0.010 None 1.000 1 0 1996 1996
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
Q13620 cullin 4B Enzyme 162 0.556 0.769 1.00 0.080 None 1.000 8 0 2007 2012
Entrez Id: 1616
Gene Symbol: DAXX
DAXX
Q9UER7 death domain associated protein 137 0.544 0.692 9.9E-02 0.010 None 1.000 1 0 2015 2015
Entrez Id: 79742
Gene Symbol: DIPK2B
DIPK2B
Q9H7Y0 divergent protein kinase domain 2B 5 0.861 0.269 3.3E-05 0.310 None 1.000 1 0 2011 2011
Entrez Id: 1741
Gene Symbol: DLG3
DLG3
Q92796 discs large MAGUK scaffold protein 3 144 0.544 0.615 1.00 0.400 None 1.000 11 1 1984 2011
Entrez Id: 1756
Gene Symbol: DMD
DMD
P11532 dystrophin 484 0.423 0.923 1.00 0.010 None 1.000 1 0 2003 2003
Entrez Id: 51514
Gene Symbol: DTL
DTL
Q9NZJ0 denticleless E3 ubiquitin protein ligase homolog 53 0.650 0.577 3.3E-03 0.010 None 1.000 1 0 1998 1998
Entrez Id: 2002
Gene Symbol: ELK1
ELK1
P19419 ETS transcription factor ELK1 Transcription factor 114 0.537 0.692 0.94 0.010 None 1.000 1 0 2007 2007
Entrez Id: 2158
Gene Symbol: F9
F9
P00740 coagulation factor IX Enzyme 276 0.465 0.885 1.00 0.020 None 1.000 2 0 1985 1987
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
P98174 FYVE, RhoGEF and PH domain containing 1 Enzyme modulator 131 0.573 0.731 1.00 0.310 None 1.000 1 1 2002 2002
Entrez Id: 2258
Gene Symbol: FGF13
FGF13
Q92913 fibroblast growth factor 13 Signaling 167 0.514 0.808 0.89 0.010 None 1.000 1 0 1999 1999
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
Q06787 FMRP translational regulator 1 Nucleic acid binding 346 0.473 0.769 0.65 0.090 None 1.000 9 0 1992 2006
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 0.010 None < 0.001 1 0 2000 2000
Entrez Id: 2481
Gene Symbol: FRAXE
FRAXE
fragile site, folic acid type, rare, fra(X)(q28) E 50 0.636 0.462 0.070 None 0.857 7 0 1993 2006
Entrez Id: 24140
Gene Symbol: FTSJ1
FTSJ1
Q9UET6 FtsJ RNA 2'-O-methyltransferase 1 57 0.659 0.577 0.99 0.030 None 1.000 3 0 2004 2008
Entrez Id: 2539
Gene Symbol: G6PD
G6PD
P11413 glucose-6-phosphate dehydrogenase Enzyme 410 0.424 0.846 0.97 0.020 None < 0.001 2 0 1983 1984
Entrez Id: 2664
Gene Symbol: GDI1
GDI1
P31150 GDP dissociation inhibitor 1 Enzyme 102 0.572 0.654 0.99 0.320 None 1.000 4 0 1996 2002
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
P14136 glial fibrillary acidic protein 447 0.421 0.885 1.5E-06 0.010 None 1.000 1 0 2018 2018
Entrez Id: 2688
Gene Symbol: GH1
GH1
P01241 growth hormone 1 Signaling 686 0.373 0.923 3.0E-02 0.010 None 1.000 1 0 2002 2002
Entrez Id: 10243
Gene Symbol: GPHN
GPHN
Q9NQX3 gephyrin 104 0.608 0.538 1.00 0.010 None 1.000 1 0 2011 2011
Entrez Id: 2892
Gene Symbol: GRIA3
GRIA3
P42263 glutamate ionotropic receptor AMPA type subunit 3 Ion channel 127 0.566 0.692 1.00 0.030 None 1.000 3 2 1999 2009
Entrez Id: 3054
Gene Symbol: HCFC1
HCFC1
P51610 host cell factor C1 100 0.601 0.692 1.00 0.010 None 1.000 1 0 1991 1991
Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10
Q99714 hydroxysteroid 17-beta dehydrogenase 10 Enzyme 65 0.656 0.538 0.94 0.030 None 1.000 3 0 2007 2008
Entrez Id: 3342
Gene Symbol: HTC2
HTC2
hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.010 None 1.000 1 0 2005 2005