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: 212
Gene Symbol: ALAS2
ALAS2
P22557 5'-aminolevulinate synthase 2 Enzyme 79 0.606 0.577 1.00 0.010 None 1.000 1 0 2007 2007
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
Q06787 FMRP translational regulator 1 Nucleic acid binding 346 0.473 0.769 0.65 0.010 None < 0.001 1 0 2000 2000
Entrez Id: 57187
Gene Symbol: THOC2
THOC2
Q8NI27 THO complex 2 Transcription factor 59 0.650 0.538 1.00 0.010 None < 0.001 1 0 1998 1998
Entrez Id: 3730
Gene Symbol: ANOS1
ANOS1
P23352 anosmin 1 166 0.537 0.769 1.00 0.010 None 1.000 1 0 1998 1998
Entrez Id: 5456
Gene Symbol: POU3F4
POU3F4
P49335 POU class 3 homeobox 4 65 0.633 0.654 0.57 0.010 None 1.000 1 0 1999 1999
Entrez Id: 27330
Gene Symbol: RPS6KA6
RPS6KA6
Q9UK32 ribosomal protein S6 kinase A6 Kinase 37 0.686 0.385 0.99 0.010 None 1.000 1 0 1999 1999
Entrez Id: 5267
Gene Symbol: SERPINA4
SERPINA4
P29622 serpin family A member 4 Enzyme modulator 45 0.641 0.654 9.7E-09 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: 4983
Gene Symbol: OPHN1
OPHN1
O60890 oligophrenin 1 Enzyme modulator 81 0.633 0.538 1.00 0.020 None 1.000 2 0 2000 2005
Entrez Id: 412
Gene Symbol: STS
STS
P08842 steroid sulfatase Enzyme 382 0.431 0.846 0.81 0.020 None 0.500 2 0 1996 1998
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
Q9UNQ0 ATP binding cassette subfamily G member 2 (Junior blood group) Transporter 420 0.419 0.885 2.1E-32 0.030 None 1.000 3 0 1998 2008
Entrez Id: 2334
Gene Symbol: AFF2
AFF2
P51816 AF4/FMR2 family member 2 Transcription factor 66 0.636 0.538 1.00 0.030 None 1.000 3 0 2000 2001
Entrez Id: 2481
Gene Symbol: FRAXE
FRAXE
fragile site, folic acid type, rare, fra(X)(q28) E 50 0.636 0.462 0.030 None 1.000 3 0 2000 2001
Entrez Id: 65109
Gene Symbol: UPF3B
UPF3B
Q9BZI7 UPF3B regulator of nonsense mediated mRNA decay 99 0.619 0.615 0.98 0.300 None 1.000 2 0 2007 2010
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1
Q96NR3 patched domain containing 1 Receptor 62 0.678 0.385 0.98 0.300 None 1.000 2 0 2010 2011
Entrez Id: 7552
Gene Symbol: ZNF711
ZNF711
Q9Y462 zinc finger protein 711 52 0.691 0.423 0.98 0.300 None 1.000 1 0 2009 2009
Entrez Id: 9758
Gene Symbol: FRMPD4
FRMPD4
Q14CM0 FERM and PDZ domain containing 4 68 0.674 0.423 1.00 0.300 None 1.000 1 0 2016 2016
Entrez Id: 9459
Gene Symbol: ARHGEF6
ARHGEF6
Q15052 Rac/Cdc42 guanine nucleotide exchange factor 6 52 0.678 0.462 1.00 0.300 None 1.000 1 0 2000 2000
Entrez Id: 84679
Gene Symbol: SLC9A7
SLC9A7
Q96T83 solute carrier family 9 member A7 Transporter 52 0.695 0.577 0.99 0.300 None 1.000 1 0 2019 2019
Entrez Id: 8239
Gene Symbol: USP9X
USP9X
Q93008 ubiquitin specific peptidase 9 X-linked 255 0.502 0.846 1.00 0.300 None 1.000 1 0 2014 2014
Entrez Id: 63932
Gene Symbol: CXorf56
CXorf56
Q9H5V9 chromosome X open reading frame 56 50 0.705 0.385 0.95 0.300 None 1.000 1 0 2018 2018
Entrez Id: 79868
Gene Symbol: ALG13
ALG13
Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 98 0.631 0.577 1.00 0.300 None 1.000 1 0 2014 2014
Entrez Id: 6855
Gene Symbol: SYP
SYP
P08247 synaptophysin Transporter 243 0.481 0.808 0.92 0.300 None 1.000 1 0 2009 2009
Entrez Id: 389856
Gene Symbol: USP27X
USP27X
A6NNY8 ubiquitin specific peptidase 27 X-linked 49 0.705 0.462 0.92 0.300 None 1.000 1 0 2016 2016
Entrez Id: 11043
Gene Symbol: MID2
MID2
Q9UJV3 midline 2 48 0.695 0.500 0.18 0.300 None 1.000 1 0 2014 2014