Source: HPO

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: 242
Gene Symbol: ALOX12B
ALOX12B
arachidonate 12-lipoxygenase, 12R type 0.603 0.577 7.6E-04
Congenital Nonbullous Ichthyosiform Erythroderma
disease 0.750 limited 0.889 0 0 2003 2013
Entrez Id: 242
Gene Symbol: ALOX12B
ALOX12B
arachidonate 12-lipoxygenase, 12R type 0.603 0.577 7.6E-04
Ichthyosiform Erythroderma, Congenital
disease 0.160 None 1.000 0 0 2002 2010
Entrez Id: 242
Gene Symbol: ALOX12B
ALOX12B
arachidonate 12-lipoxygenase, 12R type 0.603 0.577 7.6E-04
CUI: C0020757
Disease: Ichthyoses
Ichthyoses
disease 0.150 None 0.600 0 0 2005 2020
Entrez Id: 242
Gene Symbol: ALOX12B
ALOX12B
arachidonate 12-lipoxygenase, 12R type 0.603 0.577 7.6E-04
CUI: C0011606
Disease: Exfoliative dermatitis
Exfoliative dermatitis
disease 0.110 None 1.000 0 0 2008 2008
Entrez Id: 242
Gene Symbol: ALOX12B
ALOX12B
arachidonate 12-lipoxygenase, 12R type 0.603 0.577 7.6E-04
CUI: C1856660
Disease: Abnormality of the helix
Abnormality of the helix
phenotype 0.100 None 0 0
Entrez Id: 242
Gene Symbol: ALOX12B
ALOX12B
arachidonate 12-lipoxygenase, 12R type 0.603 0.577 7.6E-04
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia
phenotype 0.100 None 0 0
Entrez Id: 242
Gene Symbol: ALOX12B
ALOX12B
arachidonate 12-lipoxygenase, 12R type 0.603 0.577 7.6E-04
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip
phenotype 0.100 None 0 0
Entrez Id: 242
Gene Symbol: ALOX12B
ALOX12B
arachidonate 12-lipoxygenase, 12R type 0.603 0.577 7.6E-04
CUI: C1837770
Disease: Sparse hair
Sparse hair
phenotype 0.100 None 0 0
Entrez Id: 242
Gene Symbol: ALOX12B
ALOX12B
arachidonate 12-lipoxygenase, 12R type 0.603 0.577 7.6E-04
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
disease 0.100 None 0 0
Entrez Id: 242
Gene Symbol: ALOX12B
ALOX12B
arachidonate 12-lipoxygenase, 12R type 0.603 0.577 7.6E-04
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 0
Entrez Id: 242
Gene Symbol: ALOX12B
ALOX12B
arachidonate 12-lipoxygenase, 12R type 0.603 0.577 7.6E-04
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis
disease 0.100 None 0 0
Entrez Id: 242
Gene Symbol: ALOX12B
ALOX12B
arachidonate 12-lipoxygenase, 12R type 0.603 0.577 7.6E-04
CUI: C0853087
Disease: Nail abnormality
Nail abnormality
phenotype 0.100 None 0 0
Entrez Id: 242
Gene Symbol: ALOX12B
ALOX12B
arachidonate 12-lipoxygenase, 12R type 0.603 0.577 7.6E-04
CUI: C4553962
Disease: Hyperkeratosis, CTCAE
Hyperkeratosis, CTCAE
phenotype 0.100 None 0 0
Entrez Id: 242
Gene Symbol: ALOX12B
ALOX12B
arachidonate 12-lipoxygenase, 12R type 0.603 0.577 7.6E-04
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility
phenotype 0.100 None 0 0
Entrez Id: 242
Gene Symbol: ALOX12B
ALOX12B
arachidonate 12-lipoxygenase, 12R type 0.603 0.577 7.6E-04
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
disease 0.100 None 0 0
Entrez Id: 242
Gene Symbol: ALOX12B
ALOX12B
arachidonate 12-lipoxygenase, 12R type 0.603 0.577 7.6E-04
CUI: C4021998
Disease: Lack of skin elasticity
Lack of skin elasticity
phenotype 0.100 None 0 0
Entrez Id: 242
Gene Symbol: ALOX12B
ALOX12B
arachidonate 12-lipoxygenase, 12R type 0.603 0.577 7.6E-04
CUI: C4021956
Disease: Aplasia/Hypoplasia of the eyebrow
Aplasia/Hypoplasia of the eyebrow
phenotype 0.100 None 0 0
Entrez Id: 242
Gene Symbol: ALOX12B
ALOX12B
arachidonate 12-lipoxygenase, 12R type 0.603 0.577 7.6E-04
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections
phenotype 0.100 None 0 0
Entrez Id: 242
Gene Symbol: ALOX12B
ALOX12B
arachidonate 12-lipoxygenase, 12R type 0.603 0.577 7.6E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 242
Gene Symbol: ALOX12B
ALOX12B
arachidonate 12-lipoxygenase, 12R type 0.603 0.577 7.6E-04
CUI: C3279547
Disease: Hypergranulosis
Hypergranulosis
phenotype 0.100 None 0 0
Entrez Id: 242
Gene Symbol: ALOX12B
ALOX12B
arachidonate 12-lipoxygenase, 12R type 0.603 0.577 7.6E-04
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype 0.100 None 0 0
Entrez Id: 242
Gene Symbol: ALOX12B
ALOX12B
arachidonate 12-lipoxygenase, 12R type 0.603 0.577 7.6E-04
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE
phenotype 0.100 None 0 0
Entrez Id: 242
Gene Symbol: ALOX12B
ALOX12B
arachidonate 12-lipoxygenase, 12R type 0.603 0.577 7.6E-04
CUI: C0522224
Disease: Paralysed
Paralysed
phenotype 0.100 None 0 0
Entrez Id: 242
Gene Symbol: ALOX12B
ALOX12B
arachidonate 12-lipoxygenase, 12R type 0.603 0.577 7.6E-04
CUI: C0456070
Disease: Growth delay
Growth delay
phenotype 0.100 None 0 0
Entrez Id: 242
Gene Symbol: ALOX12B
ALOX12B
arachidonate 12-lipoxygenase, 12R type 0.603 0.577 7.6E-04
CUI: C0011175
Disease: Dehydration
Dehydration
phenotype 0.100 None 0 0