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 19 0 2005 2019
Entrez Id: 101927895
Gene Symbol: EMC1-AS1
EMC1-AS1
EMC1 antisense RNA 1 15 0.792 0.385 0.100 None 1.000 2 1 2016 2017
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: 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: 107075310
Gene Symbol: MTCO2P12
MTCO2P12
MT-CO2 pseudogene 12 703 0.368 0.962 0.010 None 1.000 1 0 1996 1996
Entrez Id: 115482693
Gene Symbol: H3P8
H3P8
H3 histone pseudogene 8 116 0.544 0.808 0.010 None 1.000 1 0 1980 1980
Entrez Id: 115482713
Gene Symbol: H3P10
H3P10
H3 histone pseudogene 10 769 0.350 0.846 0.010 None 1.000 1 0 2017 2017
Entrez Id: 140821
Gene Symbol: RSS
RSS
Russell Silver syndrome 103 0.578 0.692 0.010 None 1.000 1 0 2020 2020
Entrez Id: 3210
Gene Symbol: HOXB@
HOXB@
homeobox B cluster 49 0.631 0.538 0.010 None 1.000 1 0 2007 2007
Entrez Id: 3438
Gene Symbol: IFN1@
IFN1@
interferon, type 1, cluster 109 0.565 0.731 0.010 None 1.000 1 0 2017 2017
Entrez Id: 345611
Gene Symbol: IRGM
IRGM
A1A4Y4 immunity related GTPase M 57 0.617 0.538 0.010 None 1.000 1 0 2016 2016
Entrez Id: 4513
Gene Symbol: COX2
COX2
P00403 cytochrome c oxidase subunit II Enzyme 875 0.352 0.962 0.010 None 1.000 1 0 1996 1996
Entrez Id: 4514
Gene Symbol: COX3
COX3
P00414 cytochrome c oxidase III Enzyme 195 0.546 0.808 0.100 None 1.000 1 1 2017 2017
Entrez Id: 54187
Gene Symbol: NANS
NANS
Q9NR45 N-acetylneuraminate synthase Enzyme 153 0.545 0.692 0.010 None 1.000 1 0 2016 2016
Entrez Id: 619553
Gene Symbol: MIR484
MIR484
microRNA 484 48 0.638 0.577 0.010 None 1.000 1 0 2018 2018
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: 104472715
Gene Symbol: SNHG14
SNHG14
small nucleolar RNA host gene 14 44 0.656 0.577 0.100 None 0 2
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 2019 2019
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B
Q7Z7G8 vacuolar protein sorting 13 homolog B 158 0.579 0.769 2.5E-45 0.010 None 1.000 1 0 2020 2020
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
A2RRP1 NBAS subunit of NRZ tethering complex 123 0.566 0.692 5.0E-43 0.420 strong 1.000 3 2 2015 2017
Entrez Id: 55655
Gene Symbol: NLRP2
NLRP2
Q9NX02 NLR family pyrin domain containing 2 155 0.515 0.731 1.4E-38 0.010 None 1.000 1 0 2006 2006
Entrez Id: 65065
Gene Symbol: NBEAL1
NBEAL1
Q6ZS30 neurobeachin like 1 60 0.638 0.692 5.1E-33 0.010 None 1.000 1 0 2017 2017
Entrez Id: 27255
Gene Symbol: CNTN6
CNTN6
Q9UQ52 contactin 6 Receptor 36 0.678 0.462 9.0E-31 0.020 None 1.000 2 0 2018 2019
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
Q9BXW9 FA complementation group D2 272 0.479 0.885 1.1E-30 0.010 None 1.000 1 0 2011 2011
Entrez Id: 23065
Gene Symbol: EMC1
EMC1
Q8N766 ER membrane protein complex subunit 1 38 0.700 0.462 6.7E-26 0.110 None 1.000 2 1 2016 2017