Source: BEFREE

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 554188
Gene Symbol: FCMTE2
FCMTE2
familial cortical myoclonic tremor with epilepsy 2 0.743 0.231
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.030 None 1.000 3 0 1999 2013
Entrez Id: 6736
Gene Symbol: SRY
SRY
sex determining region Y 0.456 0.808
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.030 None 1.000 3 0 1996 2007
Entrez Id: 7012
Gene Symbol: TERC
TERC
telomerase RNA component 0.471 0.846
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.030 None 1.000 3 0 2012 2016
Entrez Id: 110806263
Gene Symbol: LOC110806263
LOC110806263
TERT 5' regulatory region 0.464 0.731
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.020 None 1.000 2 0 2013 2017
Entrez Id: 115482713
Gene Symbol: H3P10
H3P10
H3 histone pseudogene 10 0.350 0.846
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.020 None 1.000 2 0 1996 2002
Entrez Id: 115482723
Gene Symbol: H3P40
H3P40
H3 histone pseudogene 40 0.506 0.846
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.020 None 1.000 2 0 2007 2012
Entrez Id: 2477
Gene Symbol: FRAXA
FRAXA
fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) 0.641 0.462
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.020 None 1.000 2 0 1999 2008
Entrez Id: 338399
Gene Symbol: TAS2R62P
TAS2R62P
taste 2 receptor member 62 pseudogene 0.729 0.192
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.020 None 1.000 2 0 2001 2017
Entrez Id: 4549
Gene Symbol: RNR1
RNR1
s-rRNA 0.626 0.769
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.020 None 1.000 2 0 2002 2014
Entrez Id: 7361
Gene Symbol: UGT1A
UGT1A
UDP glucuronosyltransferase family 1 member A complex locus 0.540 0.654
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.020 None 1.000 2 0 1992 1997
Entrez Id: 8151
Gene Symbol: WT4
WT4
Wilms tumor-4 0.821 0.154
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.020 None 0.500 2 0 1998 2004
Entrez Id: 100008589
Gene Symbol: RNA28SN5
RNA28SN5
RNA, 28S ribosomal N5 0.705 0.346
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 100048912
Gene Symbol: CDKN2B-AS1
CDKN2B-AS1
CDKN2B antisense RNA 1 0.491 0.769
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 1 2013 2013
Entrez Id: 100505887
Gene Symbol: LINC01672
LINC01672
long intergenic non-protein coding RNA 1672 0.462 0.846
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 1998 1998
Entrez Id: 100529262
Gene Symbol: MIA-RAB4B
MIA-RAB4B
MIA-RAB4B readthrough (NMD candidate) 0.821 0.385
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 101054525
Gene Symbol: PGR-AS1
PGR-AS1
PGR antisense RNA 1 0.514 0.808
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 1988 1988
Entrez Id: 105259599
Gene Symbol: H19-ICR
H19-ICR
H19/IGF2 imprinting control region 0.631 0.615
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 105375847
Gene Symbol: CERNA3
CERNA3
competing endogenous lncRNA 3 for miR-645 0.531 0.808
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 105804841
Gene Symbol: ZRS
ZRS
ZPA regulatory sequence 0.722 0.269
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 106480993
Gene Symbol: RN7SL263P
RN7SL263P
RNA, 7SL, cytoplasmic 263, pseudogene 0.496 0.808
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 2000 2000
Entrez Id: 107075310
Gene Symbol: MTCO2P12
MTCO2P12
MT-CO2 pseudogene 12 0.368 0.962
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 116093
Gene Symbol: DIRC1
DIRC1
disrupted in renal carcinoma 1 0.861 0.154
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 1243
Gene Symbol: CMM
CMM
cutaneous malignant melanoma/dysplastic nevus 0.670 0.385
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 1992 1992
Entrez Id: 126
Gene Symbol: ADH1C
ADH1C
alcohol dehydrogenase 1C (class I), gamma polypeptide 0.547 0.731
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 158506
Gene Symbol: CBLL2
CBLL2
Cbl proto-oncogene like 2 0.476 0.808
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 2013 2013