DisGeNET - a database of gene-disease associations

Source: HPO

Gene: ALDH18A1 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

aldehyde dehydrogenase 18 family member A1

0.551

0.769

8.1E-04

CUI:	C0010495
Disease:	Cutis Laxa

Cutis Laxa

disease

0.140

None

1.000

2011

2018

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

aldehyde dehydrogenase 18 family member A1

0.551

0.769

8.1E-04

CUI:	C0086543
Disease:	Cataract

Cataract

disease

0.120

None

1.000

2000

2008

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

aldehyde dehydrogenase 18 family member A1

0.551

0.769

8.1E-04

CUI:	C0042963
Disease:	Vomiting

Vomiting

phenotype

0.110

None

1.000

2016

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

aldehyde dehydrogenase 18 family member A1

0.551

0.769

8.1E-04

CUI:	C0025958
Disease:	Microcephaly

Microcephaly

disease

0.110

None

1.000

2014

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

aldehyde dehydrogenase 18 family member A1

0.551

0.769

8.1E-04

CUI:	C0037772
Disease:	Spastic Paraplegia

Spastic Paraplegia

disease

0.110

None

1.000

2019

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

aldehyde dehydrogenase 18 family member A1

0.551

0.769

8.1E-04

CUI:	C1845245
Disease:	Lower limb hypertonia

Lower limb hypertonia

phenotype

0.100

None

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

aldehyde dehydrogenase 18 family member A1

0.551

0.769

8.1E-04

CUI:	C1832671
Disease:	Dysfunction of lateral corticospinal tracts

Dysfunction of lateral corticospinal tracts

phenotype

0.100

None

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

aldehyde dehydrogenase 18 family member A1

0.551

0.769

8.1E-04

CUI:	C1835884
Disease:	Triangular face

Triangular face

phenotype

0.100

None

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

aldehyde dehydrogenase 18 family member A1

0.551

0.769

8.1E-04

CUI:	C1836296
Disease:	Muscle Weakness Lower Limb

Muscle Weakness Lower Limb

phenotype

0.100

None

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

aldehyde dehydrogenase 18 family member A1

0.551

0.769

8.1E-04

CUI:	C1836696
Disease:	Lower limb hyperreflexia

Lower limb hyperreflexia

phenotype

0.100

None

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

aldehyde dehydrogenase 18 family member A1

0.551

0.769

8.1E-04

CUI:	C1836843
Disease:	Progressive inability to walk

Progressive inability to walk

phenotype

0.100

None

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

aldehyde dehydrogenase 18 family member A1

0.551

0.769

8.1E-04

CUI:	C1837260
Disease:	Prominent forehead

Prominent forehead

phenotype

0.100

None

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

aldehyde dehydrogenase 18 family member A1

0.551

0.769

8.1E-04

CUI:	C1837761
Disease:	Narrow nasal ridge

Narrow nasal ridge

phenotype

0.100

None

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

aldehyde dehydrogenase 18 family member A1

0.551

0.769

8.1E-04

CUI:	C1837770
Disease:	Sparse hair

Sparse hair

phenotype

0.100

None

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

aldehyde dehydrogenase 18 family member A1

0.551

0.769

8.1E-04

CUI:	C1848771
Disease:	Prominent superficial blood vessels

Prominent superficial blood vessels

phenotype

0.100

None

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

aldehyde dehydrogenase 18 family member A1

0.551

0.769

8.1E-04

CUI:	C1843175
Disease:	Hyperreflexia in upper limbs

Hyperreflexia in upper limbs

phenotype

0.100

None

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

aldehyde dehydrogenase 18 family member A1

0.551

0.769

8.1E-04

CUI:	C1843885
Disease:	Progressive gait ataxia

Progressive gait ataxia

phenotype

0.100

None

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

aldehyde dehydrogenase 18 family member A1

0.551

0.769

8.1E-04

CUI:	C1843921
Disease:	Postural instability

Postural instability

phenotype

0.100

None

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

aldehyde dehydrogenase 18 family member A1

0.551

0.769

8.1E-04

CUI:	C1846017
Disease:	Progressive pes cavus

Progressive pes cavus

phenotype

0.100

None

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

aldehyde dehydrogenase 18 family member A1

0.551

0.769

8.1E-04

CUI:	C1838319
Disease:	Primitive reflexes (palmomental, snout, glabellar)

Primitive reflexes (palmomental, snout, glabellar)

phenotype

0.100

None

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

aldehyde dehydrogenase 18 family member A1

0.551

0.769

8.1E-04

CUI:	C1395674
Disease:	Bowel diverticulosis

Bowel diverticulosis

disease

0.100

None

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

aldehyde dehydrogenase 18 family member A1

0.551

0.769

8.1E-04

CUI:	C0520947
Disease:	Clumsiness - motor delay

Clumsiness - motor delay

disease

0.100

None

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

aldehyde dehydrogenase 18 family member A1

0.551

0.769

8.1E-04

CUI:	C0541764
Disease:	Delayed bone age

Delayed bone age

phenotype

0.100

None

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

aldehyde dehydrogenase 18 family member A1

0.551

0.769

8.1E-04

CUI:	C0541794
Disease:	Skeletal muscle atrophy

Skeletal muscle atrophy

phenotype

0.100

None

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

aldehyde dehydrogenase 18 family member A1

0.551

0.769

8.1E-04

CUI:	C0542223
Disease:	Loss of speech

Loss of speech

phenotype

0.100

None