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: 3949
Gene Symbol: LDLR
LDLR
low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.100 None 1.000 13 1 1974 2014
Entrez Id: 1621
Gene Symbol: DBH
DBH
dopamine beta-hydroxylase 0.511 0.846 3.3E-10
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.020 None 1.000 2 0 1975 1978
Entrez Id: 3156
Gene Symbol: HMGCR
HMGCR
3-hydroxy-3-methylglutaryl-CoA reductase 0.529 0.692 1.00
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 1975 1975
Entrez Id: 796
Gene Symbol: CALCA
CALCA
calcitonin related polypeptide alpha 0.416 0.923 1.6E-02
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.040 None 1.000 4 0 1976 2010
Entrez Id: 56246
Gene Symbol: MRAP
MRAP
melanocortin 2 receptor accessory protein 0.674 0.500 2.1E-03
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 1977 1977
Entrez Id: 6906
Gene Symbol: SERPINA7
SERPINA7
serpin family A member 7 0.641 0.615 2.6E-03
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 1977 1977
Entrez Id: 2688
Gene Symbol: GH1
GH1
growth hormone 1 0.373 0.923 3.0E-02
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.060 None 1.000 6 0 1978 2010
Entrez Id: 3630
Gene Symbol: INS
INS
insulin 0.445 0.923 0.30
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.070 None 1.000 7 0 1979 1998
Entrez Id: 952
Gene Symbol: CD38
CD38
CD38 molecule 0.407 0.885 2.3E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 1979 1979
Entrez Id: 5741
Gene Symbol: PTH
PTH
parathyroid hormone 0.397 0.846 1.2E-02
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.050 None 1.000 5 0 1980 2017
Entrez Id: 2147
Gene Symbol: F2
F2
coagulation factor II, thrombin 0.415 0.885 1.1E-03
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.040 None 1.000 4 0 1980 2016
Entrez Id: 3105
Gene Symbol: HLA-A
HLA-A
major histocompatibility complex, class I, A 0.370 0.846 1.3E-03
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.040 None 0.500 4 0 1980 2009
Entrez Id: 873
Gene Symbol: CBR1
CBR1
carbonyl reductase 1 0.572 0.654 6.3E-05
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None < 0.001 1 0 1980 1980
Entrez Id: 5340
Gene Symbol: PLG
PLG
plasminogen 0.389 0.923 1.0E-02
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.060 None 1.000 6 0 1981 1996
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1
serpin family C member 1 0.507 0.769 1.00
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.050 None 1.000 5 0 1981 1988
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: 57306
Gene Symbol: CUP2Q35
CUP2Q35
Syndactyly, type I 0.839 0.077
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 1981 1981
Entrez Id: 7276
Gene Symbol: TTR
TTR
transthyretin 0.423 0.885 0.52
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.100 None 1.000 71 7 1982 2018
Entrez Id: 5443
Gene Symbol: POMC
POMC
proopiomelanocortin 0.356 0.846 1.2E-04
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.040 None 1.000 4 0 1982 1996
Entrez Id: 7200
Gene Symbol: TRH
TRH
thyrotropin releasing hormone 0.519 0.846 8.9E-04
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.020 None 1.000 2 0 1982 1983
Entrez Id: 1
Gene Symbol: A1BG
A1BG
alpha-1-B glycoprotein 0.700 0.538 5.0E-09
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None < 0.001 1 0 1982 1982
Entrez Id: 5539
Gene Symbol: PPY
PPY
pancreatic polypeptide 0.663 0.308 1.2E-02
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None 1.000 1 0 1982 1982
Entrez Id: 6641
Gene Symbol: SNTB1
SNTB1
syntrophin beta 1 0.792 0.269 1.0E-03
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.010 None < 0.001 1 0 1982 1982
Entrez Id: 5972
Gene Symbol: REN
REN
renin 0.370 0.923 2.4E-07
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.050 None 1.000 5 0 1984 2013
Entrez Id: 4023
Gene Symbol: LPL
LPL
lipoprotein lipase 0.474 0.808 1.3E-09
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease 0.100 None 0.909 11 0 1985 2017