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: 211
Gene Symbol: ALAS1
ALAS1
5'-aminolevulinate synthase 1 0.705 0.462 0.11
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism
group 0.520 None 1.000 4 0 1995 2019
Entrez Id: 7389
Gene Symbol: UROD
UROD
uroporphyrinogen decarboxylase 0.521 0.769 1.3E-08
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism
group 0.100 None 1.000 17 1 1986 2019
Entrez Id: 3145
Gene Symbol: HMBS
HMBS
hydroxymethylbilane synthase 0.559 0.731 0.95
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism
group 0.080 None 1.000 8 2 1978 2013
Entrez Id: 210
Gene Symbol: ALAD
ALAD
aminolevulinate dehydratase 0.556 0.615 5.6E-05
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism
group 0.080 None 1.000 8 0 1981 2014
Entrez Id: 5498
Gene Symbol: PPOX
PPOX
protoporphyrinogen oxidase 0.678 0.500 2.8E-02
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism
group 0.050 None 1.000 5 1 1997 2011
Entrez Id: 1371
Gene Symbol: CPOX
CPOX
coproporphyrinogen oxidase 0.488 0.846 0.17
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism
group 0.040 None 1.000 4 0 1995 2011
Entrez Id: 2235
Gene Symbol: FECH
FECH
ferrochelatase 0.585 0.577 2.8E-03
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism
group 0.040 None 1.000 4 0 1982 2016
Entrez Id: 3077
Gene Symbol: HFE
HFE
homeostatic iron regulator 0.436 0.846 2.6E-08
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism
group 0.030 None 1.000 3 2 1999 2019
Entrez Id: 7390
Gene Symbol: UROS
UROS
uroporphyrinogen III synthase 0.678 0.462 3.2E-02
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism
group 0.020 None 1.000 2 1 2016 2019
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism
group 0.020 None 1.000 2 0 2013 2017
Entrez Id: 212
Gene Symbol: ALAS2
ALAS2
5'-aminolevulinate synthase 2 0.606 0.577 1.00
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism
group 0.020 None 0.500 2 0 2019 2019
Entrez Id: 796
Gene Symbol: CALCA
CALCA
calcitonin related polypeptide alpha 0.416 0.923 1.6E-02
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism
group 0.020 None 1.000 2 0 1989 1989
Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
ATP binding cassette subfamily B member 6 (Langereis blood group) 0.431 0.885 8.6E-19
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism
group 0.020 None 1.000 2 0 2016 2017
Entrez Id: 4068
Gene Symbol: SH2D1A
SH2D1A
SH2 domain containing 1A 0.525 0.731 0.39
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism
group 0.010 None 1.000 1 0 2015 2015
Entrez Id: 57817
Gene Symbol: HAMP
HAMP
hepcidin antimicrobial peptide 0.433 0.846 8.2E-03
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism
group 0.010 None 1.000 1 0 2008 2008
Entrez Id: 6565
Gene Symbol: SLC15A2
SLC15A2
solute carrier family 15 member 2 0.805 0.308 5.5E-20
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism
group 0.010 None 1.000 1 0 2017 2017
Entrez Id: 3875
Gene Symbol: KRT18
KRT18
keratin 18 0.530 0.692 0.73
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism
group 0.010 None 1.000 1 0 2019 2019
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism
group 0.010 None 1.000 1 0 2019 2019
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
GATA binding protein 1 0.483 0.808 0.95
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism
group 0.010 None 1.000 1 0 2007 2007
Entrez Id: 2056
Gene Symbol: EPO
EPO
erythropoietin 0.381 0.885 1.1E-02
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism
group 0.010 None 1.000 1 0 2002 2002
Entrez Id: 1576
Gene Symbol: CYP3A4
CYP3A4
cytochrome P450 family 3 subfamily A member 4 0.462 0.885 5.8E-11
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism
group 0.010 None 1.000 1 0 2002 2002
Entrez Id: 1565
Gene Symbol: CYP2D6
CYP2D6
cytochrome P450 family 2 subfamily D member 6 0.437 0.885 1.1E-25
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism
group 0.010 None 1.000 1 0 2007 2007
Entrez Id: 1555
Gene Symbol: CYP2B6
CYP2B6
cytochrome P450 family 2 subfamily B member 6 0.428 0.846 1.9E-10
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism
group 0.010 None 1.000 1 0 2002 2002
Entrez Id: 1401
Gene Symbol: CRP
CRP
C-reactive protein 0.299 0.962 3.7E-03
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism
group 0.010 None 1.000 1 0 2002 2002
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
PPARG coactivator 1 alpha 0.453 0.885 1.00
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism
group 0.010 None 1.000 1 0 2005 2005