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: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.100 None 1.000 40 0 2003 2014
Entrez Id: 2481
Gene Symbol: FRAXE
FRAXE 		fragile site, folic acid type, rare, fra(X)(q28) E 50 0.636 0.462 0.100 None 0.970 33 0 1993 2011
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 0.100 None 0.875 32 0 1992 2009
Entrez Id: 100528024
Gene Symbol: DEL11P13
DEL11P13 		Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome 24 0.716 0.538 0.100 None 1.000 10 0 1989 2011
Entrez Id: 106478973
Gene Symbol: FMR1-IT1
FMR1-IT1 		FMR1 intronic transcript 1 29 0.716 0.385 0.090 None 1.000 9 0 1992 2008
Entrez Id: 7503
Gene Symbol: XIST
XIST 		X inactive specific transcript 146 0.522 0.808 0.040 None 0.500 4 0 2000 2004
Entrez Id: 1637
Gene Symbol: DCR
DCR 		Down syndrome chromosome region 32 0.674 0.538 0.030 None 1.000 3 0 1993 1994
Entrez Id: 4412
Gene Symbol: MRX49
MRX49 		mental retardation, X-linked 49 7 0.821 0.385 0.030 None 1.000 3 0 1999 2008
Entrez Id: 7502
Gene Symbol: XIC
XIC 		X chromosome inactivation center 9 0.821 0.462 0.030 None 0.667 3 0 1992 1997
Entrez Id: 8422
Gene Symbol: MEHMO
MEHMO 		mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly and obesity syndrome 7 0.890 0.269 0.030 None 1.000 3 0 1998 2018
Entrez Id: 2448
Gene Symbol: FRA12A
FRA12A 		fragile site, folic acid type, rare, fra(12)(q13.1) 2 1.000 0.192 0.020 None 1.000 2 0 2007 2009
Entrez Id: 102724560
Gene Symbol: CBSL
CBSL 		P0DN79 P35520 cystathionine beta-synthase like 129 0.540 0.808 0.010 None 1.000 1 0 2009 2009
Entrez Id: 115482693
Gene Symbol: H3P8
H3P8 		H3 histone pseudogene 8 116 0.544 0.808 0.010 None 1.000 1 0 1998 1998
Entrez Id: 158506
Gene Symbol: CBLL2
CBLL2 		Q8N7E2 Cbl proto-oncogene like 2 Enzyme 235 0.476 0.808 0.010 None 1.000 1 0 2008 2008
Entrez Id: 2667
Gene Symbol: GDI2P1
GDI2P1 		GDP dissociation inhibitor 2 pseudogene 1 3 0.931 0.192 0.010 None 1.000 1 0 1998 1998
Entrez Id: 4156
Gene Symbol: MBS1
MBS1 		Moebius syndrome 1 12 0.805 0.308 0.010 None 1.000 1 0 1993 1993
Entrez Id: 4519
Gene Symbol: CYTB
CYTB 		P00156 cytochrome b 166 0.529 0.808 0.010 None 1.000 1 0 2001 2001
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		P07196 neurofilament light 247 0.488 0.769 0.010 None 1.000 1 0 2001 2001
Entrez Id: 50971
Gene Symbol: ENFL2
ENFL2 		Epilepsy, nocturnal frontal lobe, type 2 6 0.839 0.346 0.010 None 1.000 1 0 2001 2001
Entrez Id: 51352
Gene Symbol: WT1-AS
WT1-AS 		Q06250 WT1 antisense RNA 71 0.597 0.615 0.010 None 1.000 1 0 1993 1993
Entrez Id: 5640
Gene Symbol: PRS
PRS 		Prieto X-linked mental retardation syndrome 42 0.663 0.615 0.010 None 1.000 1 0 1992 1992
Entrez Id: 9084
Gene Symbol: VCY
VCY 		O14598 variable charge Y-linked 4 0.890 0.231 0.010 None 1.000 1 0 2005 2005
Entrez Id: 147429
Gene Symbol: AQP4-AS1
AQP4-AS1 		AQP4 antisense RNA 1 23 0.751 0.577 0.100 None 0 1
Entrez Id: 259266
Gene Symbol: ASPM
ASPM 		Q8IZT6 abnormal spindle microtubule assembly 159 0.526 0.769 3.4E-49 0.010 None 1.000 1 0 2003 2003
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		P24043 laminin subunit alpha 2 Enzyme modulator 167 0.553 0.692 2.4E-47 0.010 None 1.000 1 0 2000 2000