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: 3145
Gene Symbol: HMBS
HMBS
hydroxymethylbilane synthase 0.559 0.731 0.95
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
disease 1.000 strong 0.983 158 17 1974 2020
Entrez Id: 211
Gene Symbol: ALAS1
ALAS1
5'-aminolevulinate synthase 1 0.705 0.462 0.11
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
disease 0.080 None 1.000 8 0 2006 2020
Entrez Id: 5644
Gene Symbol: PRSS1
PRSS1
serine protease 1 0.563 0.692 4.1E-11
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
disease 0.040 None 1.000 4 0 2013 2017
Entrez Id: 9049
Gene Symbol: AIP
AIP
aryl hydrocarbon receptor interacting protein 0.517 0.769 0.36
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
disease 0.040 None 1.000 4 0 1990 2019
Entrez Id: 5498
Gene Symbol: PPOX
PPOX
protoporphyrinogen oxidase 0.678 0.500 2.8E-02
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
disease 0.040 None 1.000 4 0 2002 2015
Entrez Id: 1990
Gene Symbol: CELA1
CELA1
chymotrypsin like elastase 1 0.700 0.385 2.4E-04
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
disease 0.030 None 1.000 3 0 2012 2018
Entrez Id: 7389
Gene Symbol: UROD
UROD
uroporphyrinogen decarboxylase 0.521 0.769 1.3E-08
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
disease 0.030 None 1.000 3 0 1989 2002
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
serine peptidase inhibitor Kazal type 1 0.492 0.808 0.31
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
disease 0.030 None 1.000 3 0 2006 2014
Entrez Id: 643
Gene Symbol: CXCR5
CXCR5
C-X-C motif chemokine receptor 5 0.524 0.769 0.73
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
disease 0.030 None 1.000 3 0 2017 2019
Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
major histocompatibility complex, class II, DR beta 1 0.333 0.923 1.1E-03
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
disease 0.030 None 1.000 3 0 2007 2010
Entrez Id: 210
Gene Symbol: ALAD
ALAD
aminolevulinate dehydratase 0.556 0.615 5.6E-05
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
disease 0.030 None 1.000 3 0 1981 1999
Entrez Id: 4055
Gene Symbol: LTBR
LTBR
lymphotoxin beta receptor 0.592 0.692 0.31
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
disease 0.020 None 1.000 2 0 2012 2014
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
disease 0.020 None 1.000 2 0 2011 2018
Entrez Id: 7099
Gene Symbol: TLR4
TLR4
toll like receptor 4 0.321 0.962 4.6E-09
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
disease 0.020 None 0.500 2 1 2009 2018
Entrez Id: 7124
Gene Symbol: TNF
TNF
tumor necrosis factor 0.231 0.962 0.80
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
disease 0.020 None 1.000 2 0 2007 2009
Entrez Id: 4049
Gene Symbol: LTA
LTA
lymphotoxin alpha 0.434 0.885 0.20
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
disease 0.020 None 1.000 2 0 2012 2014
Entrez Id: 3447
Gene Symbol: IFNA13
IFNA13
interferon alpha 13 0.374 0.923
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
disease 0.020 None 1.000 2 0 2017 2019
Entrez Id: 3439
Gene Symbol: IFNA1
IFNA1
interferon alpha 1 0.371 0.923
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
disease 0.020 None 1.000 2 0 2017 2019
Entrez Id: 90865
Gene Symbol: IL33
IL33
interleukin 33 0.409 0.885 8.3E-10
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
disease 0.020 None 1.000 2 0 2017 2019
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
forkhead box P3 0.368 0.846 0.99
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
disease 0.020 None 1.000 2 0 2009 2011
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
disease 0.020 None 1.000 2 0 2011 2015
Entrez Id: 279
Gene Symbol: AMY2A
AMY2A
amylase alpha 2A 0.716 0.423 8.5E-12
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
disease 0.020 None 1.000 2 0 2009 2009
Entrez Id: 796
Gene Symbol: CALCA
CALCA
calcitonin related polypeptide alpha 0.416 0.923 1.6E-02
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
disease 0.020 None 1.000 2 0 1989 1989
Entrez Id: 4914
Gene Symbol: NTRK1
NTRK1
neurotrophic receptor tyrosine kinase 1 0.422 0.808 2.0E-06
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5037
Gene Symbol: PEBP1
PEBP1
phosphatidylethanolamine binding protein 1 0.500 0.808 9.2E-02
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
disease 0.010 None 1.000 1 0 2018 2018