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: 224
Gene Symbol: ALDH3A2
ALDH3A2
aldehyde dehydrogenase 3 family member A2 0.619 0.769 9.4E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.420 strong 1.000 0 0 2012 2016
Entrez Id: 224
Gene Symbol: ALDH3A2
ALDH3A2
aldehyde dehydrogenase 3 family member A2 0.619 0.769 9.4E-06
CUI: C0020757
Disease: Ichthyoses
Ichthyoses
disease 0.170 None 1.000 0 0 1997 2019
Entrez Id: 224
Gene Symbol: ALDH3A2
ALDH3A2
aldehyde dehydrogenase 3 family member A2 0.619 0.769 9.4E-06
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
disease 0.120 None 0.500 0 0 2000 2014
Entrez Id: 224
Gene Symbol: ALDH3A2
ALDH3A2
aldehyde dehydrogenase 3 family member A2 0.619 0.769 9.4E-06
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
phenotype 0.120 None 1.000 0 0 2001 2006
Entrez Id: 224
Gene Symbol: ALDH3A2
ALDH3A2
aldehyde dehydrogenase 3 family member A2 0.619 0.769 9.4E-06
CUI: C0023882
Disease: Little's Disease
Little's Disease
disease 0.110 None 1.000 0 0 2005 2005
Entrez Id: 224
Gene Symbol: ALDH3A2
ALDH3A2
aldehyde dehydrogenase 3 family member A2 0.619 0.769 9.4E-06
Opacification of the corneal epithelium
phenotype 0.100 None 0 0
Entrez Id: 224
Gene Symbol: ALDH3A2
ALDH3A2
aldehyde dehydrogenase 3 family member A2 0.619 0.769 9.4E-06
CUI: C1840457
Disease: Retinal pigment epithelial atrophy
Retinal pigment epithelial atrophy
phenotype 0.100 None 0 0
Entrez Id: 224
Gene Symbol: ALDH3A2
ALDH3A2
aldehyde dehydrogenase 3 family member A2 0.619 0.769 9.4E-06
CUI: C1184919
Disease: Thoracic kyphosis
Thoracic kyphosis
phenotype 0.100 None 0 0
Entrez Id: 224
Gene Symbol: ALDH3A2
ALDH3A2
aldehyde dehydrogenase 3 family member A2 0.619 0.769 9.4E-06
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis
disease 0.100 None 0 0
Entrez Id: 224
Gene Symbol: ALDH3A2
ALDH3A2
aldehyde dehydrogenase 3 family member A2 0.619 0.769 9.4E-06
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
disease 0.100 None 0 0
Entrez Id: 224
Gene Symbol: ALDH3A2
ALDH3A2
aldehyde dehydrogenase 3 family member A2 0.619 0.769 9.4E-06
CUI: C0392163
Disease: Corneal erosion
Corneal erosion
disease 0.100 None 0 0
Entrez Id: 224
Gene Symbol: ALDH3A2
ALDH3A2
aldehyde dehydrogenase 3 family member A2 0.619 0.769 9.4E-06
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
phenotype 0.100 None 0 0
Entrez Id: 224
Gene Symbol: ALDH3A2
ALDH3A2
aldehyde dehydrogenase 3 family member A2 0.619 0.769 9.4E-06
CUI: C1962966
Disease: Retinopathy, CTCAE
Retinopathy, CTCAE
phenotype 0.100 None 0 0
Entrez Id: 224
Gene Symbol: ALDH3A2
ALDH3A2
aldehyde dehydrogenase 3 family member A2 0.619 0.769 9.4E-06
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE
phenotype 0.100 None 0 0
Entrez Id: 224
Gene Symbol: ALDH3A2
ALDH3A2
aldehyde dehydrogenase 3 family member A2 0.619 0.769 9.4E-06
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype 0.100 None 0 0
Entrez Id: 224
Gene Symbol: ALDH3A2
ALDH3A2
aldehyde dehydrogenase 3 family member A2 0.619 0.769 9.4E-06
CUI: C3549703
Disease: Retinal thinning
Retinal thinning
phenotype 0.100 None 0 0
Entrez Id: 224
Gene Symbol: ALDH3A2
ALDH3A2
aldehyde dehydrogenase 3 family member A2 0.619 0.769 9.4E-06
CUI: C4020969
Disease: Inflammatory abnormality of the eye
Inflammatory abnormality of the eye
disease 0.100 None 0 0
Entrez Id: 224
Gene Symbol: ALDH3A2
ALDH3A2
aldehyde dehydrogenase 3 family member A2 0.619 0.769 9.4E-06
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel
group 0.100 None 0 0
Entrez Id: 224
Gene Symbol: ALDH3A2
ALDH3A2
aldehyde dehydrogenase 3 family member A2 0.619 0.769 9.4E-06
CUI: C4024878
Disease: Generalized hyperpigmentation
Generalized hyperpigmentation
phenotype 0.100 None 0 0
Entrez Id: 224
Gene Symbol: ALDH3A2
ALDH3A2
aldehyde dehydrogenase 3 family member A2 0.619 0.769 9.4E-06
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE
phenotype 0.100 None 0 0
Entrez Id: 224
Gene Symbol: ALDH3A2
ALDH3A2
aldehyde dehydrogenase 3 family member A2 0.619 0.769 9.4E-06
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 224
Gene Symbol: ALDH3A2
ALDH3A2
aldehyde dehydrogenase 3 family member A2 0.619 0.769 9.4E-06
Central nervous system demyelination
disease 0.100 None 0 0
Entrez Id: 224
Gene Symbol: ALDH3A2
ALDH3A2
aldehyde dehydrogenase 3 family member A2 0.619 0.769 9.4E-06
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia
disease 0.100 None 0 0
Entrez Id: 224
Gene Symbol: ALDH3A2
ALDH3A2
aldehyde dehydrogenase 3 family member A2 0.619 0.769 9.4E-06
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.100 None 0 0
Entrez Id: 224
Gene Symbol: ALDH3A2
ALDH3A2
aldehyde dehydrogenase 3 family member A2 0.619 0.769 9.4E-06
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.100 None 0 0