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 60 0 2003 2019
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 0.974 39 0 1993 2014
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 0.879 33 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: 406928
Gene Symbol: MIR137
MIR137
microRNA 137 171 0.513 0.846 0.050 None 1.000 5 0 2011 2018
Entrez Id: 158506
Gene Symbol: CBLL2
CBLL2
Q8N7E2 Cbl proto-oncogene like 2 Enzyme 235 0.476 0.808 0.040 None 1.000 4 0 2008 2019
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: 8422
Gene Symbol: MEHMO
MEHMO
mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly and obesity syndrome 7 0.890 0.269 0.040 None 1.000 4 0 1998 2018
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: 102724560
Gene Symbol: CBSL
CBSL
P0DN79 P35520 cystathionine beta-synthase like 129 0.540 0.808 0.020 None 1.000 2 0 2009 2014
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: 261
Gene Symbol: AMCN
AMCN
arthrogryposis multiplex congenita, neurogenic 42 0.682 0.615 0.020 None 1.000 2 0 2019 2019
Entrez Id: 554313
Gene Symbol: H4C15
H4C15
P62805 H4 clustered histone 15 121 0.541 0.692 0.020 None 1.000 2 0 2017 2019
Entrez Id: 8370
Gene Symbol: H4C14
H4C14
P62805 H4 clustered histone 14 121 0.541 0.692 0.020 None 1.000 2 0 2017 2019
Entrez Id: 100009675
Gene Symbol: MRT4
MRT4
mental retardation, non-syndromic, autosomal recessive, 4 1 0.010 None 1.000 1 0 2011 2011
Entrez Id: 100038247
Gene Symbol: PTLS
PTLS
Potocki-Lupski syndrome 17 0.780 0.308 0.010 None 1.000 1 0 2014 2014
Entrez Id: 101928437
Gene Symbol: LOC101928437
LOC101928437
uncharacterized LOC101928437 1 0.010 None 1.000 1 0 2015 2015
Entrez Id: 105372556
Gene Symbol: LINC00237
LINC00237
long intergenic non-protein coding RNA 237 4 0.931 0.385 0.010 None 1.000 1 0 2012 2012
Entrez Id: 106480993
Gene Symbol: RN7SL263P
RN7SL263P
RNA, 7SL, cytoplasmic 263, pseudogene 189 0.496 0.808 0.010 None 1.000 1 0 2019 2019
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: 1218
Gene Symbol: CMD1B
CMD1B
cardiomyopathy, dilated 1B (autosomal dominant) 20 0.722 0.500 0.010 None 1.000 1 0 2003 2003
Entrez Id: 140821
Gene Symbol: RSS
RSS
Russell Silver syndrome 103 0.578 0.692 0.010 None 1.000 1 0 2017 2017