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: 171221
Gene Symbol: DNAJB1P1
DNAJB1P1
DnaJ heat shock protein family (Hsp40) member B1 pseudogene 1 0.650 0.654
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 1866
Gene Symbol: DYT7
DYT7
dystonia 7, torsion (autosomal dominant) 0.805 0.269
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 1999 1999
Entrez Id: 2112
Gene Symbol: ETM2
ETM2
essential tremor 2 0.931 0.038
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 25859
Gene Symbol: PART1
PART1
prostate androgen-regulated transcript 1 0.483 0.885
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 1981 1981
Entrez Id: 260402
Gene Symbol: IS1
IS1
Adolescent idiopathic scoliosis 0.593 0.615
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 3342
Gene Symbol: HTC2
HTC2
hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None < 0.001 1 0 2011 2011
Entrez Id: 340451
Gene Symbol: CPP
CPP
ceruloplasmin pseudogene 0.631 0.731
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 3439
Gene Symbol: IFNA1
IFNA1
interferon alpha 1 0.371 0.923
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 3447
Gene Symbol: IFNA13
IFNA13
interferon alpha 13 0.374 0.923
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 387570
Gene Symbol: DUH1
DUH1
Dyschromatosis universalis hereditaria 0.890 0.115
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 406928
Gene Symbol: MIR137
MIR137
microRNA 137 0.513 0.846
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 406941
Gene Symbol: MIR149
MIR149
microRNA 149 0.524 0.769
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 406947
Gene Symbol: MIR155
MIR155
microRNA 155 0.384 0.885
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 406952
Gene Symbol: MIR17
MIR17
microRNA 17 0.459 0.846
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 1 2014 2014
Entrez Id: 406991
Gene Symbol: MIR21
MIR21
microRNA 21 0.363 0.846
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 407029
Gene Symbol: MIR30A
MIR30A
microRNA 30a 0.478 0.808
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 424
Gene Symbol: ARVD3
ARVD3
arrhythmogenic right ventricular dysplasia 3 0.792 0.192
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 440915
Gene Symbol: POTEKP
POTEKP
POTE ankyrin domain family member K, pseudogene 0.542 0.769
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 450095
Gene Symbol: PLF
PLF
Pulmonary function 0.544 0.731
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 1985 1985
Entrez Id: 4513
Gene Symbol: COX2
COX2
cytochrome c oxidase subunit II 0.352 0.962
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 4514
Gene Symbol: COX3
COX3
cytochrome c oxidase III 0.546 0.808
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 1990 1990
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
neurofilament light 0.488 0.769
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 4964
Gene Symbol: OFC2
OFC2
orofacial cleft 2 0.931 0.115
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 1998 1998
Entrez Id: 5072
Gene Symbol: PARK3
PARK3
Parkinson disease 3 (autosomal dominant, Lewy body) 0.821 0.038
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 50968
Gene Symbol: FCMTE1
FCMTE1
familial cortical myoclonic tremor with epilepsy 1 0.769 0.231
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 1999 1999