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: 4329
Gene Symbol: ALDH6A1
ALDH6A1 		aldehyde dehydrogenase 6 family member A1 0.716 0.462 7.6E-10
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 0 2000 2000
Entrez Id: 4329
Gene Symbol: ALDH6A1
ALDH6A1 		aldehyde dehydrogenase 6 family member A1 0.716 0.462 7.6E-10
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.100 None 0 0
Entrez Id: 4329
Gene Symbol: ALDH6A1
ALDH6A1 		aldehyde dehydrogenase 6 family member A1 0.716 0.462 7.6E-10
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype 0.100 None 0 0
Entrez Id: 4329
Gene Symbol: ALDH6A1
ALDH6A1 		aldehyde dehydrogenase 6 family member A1 0.716 0.462 7.6E-10
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 0
Entrez Id: 4329
Gene Symbol: ALDH6A1
ALDH6A1 		aldehyde dehydrogenase 6 family member A1 0.716 0.462 7.6E-10
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease 0.100 None 0 0
Entrez Id: 4329
Gene Symbol: ALDH6A1
ALDH6A1 		aldehyde dehydrogenase 6 family member A1 0.716 0.462 7.6E-10
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		phenotype 0.100 None 0 0
Entrez Id: 4329
Gene Symbol: ALDH6A1
ALDH6A1 		aldehyde dehydrogenase 6 family member A1 0.716 0.462 7.6E-10
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 4329
Gene Symbol: ALDH6A1
ALDH6A1 		aldehyde dehydrogenase 6 family member A1 0.716 0.462 7.6E-10
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		phenotype 0.100 None 0 0
Entrez Id: 4329
Gene Symbol: ALDH6A1
ALDH6A1 		aldehyde dehydrogenase 6 family member A1 0.716 0.462 7.6E-10
CUI: C1854114
Disease: Short nose
Short nose 		phenotype 0.100 None 0 0
Entrez Id: 4329
Gene Symbol: ALDH6A1
ALDH6A1 		aldehyde dehydrogenase 6 family member A1 0.716 0.462 7.6E-10
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 4329
Gene Symbol: ALDH6A1
ALDH6A1 		aldehyde dehydrogenase 6 family member A1 0.716 0.462 7.6E-10
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease 0.100 None 0 0
Entrez Id: 4329
Gene Symbol: ALDH6A1
ALDH6A1 		aldehyde dehydrogenase 6 family member A1 0.716 0.462 7.6E-10
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		disease 0.100 None 0 0
Entrez Id: 4329
Gene Symbol: ALDH6A1
ALDH6A1 		aldehyde dehydrogenase 6 family member A1 0.716 0.462 7.6E-10
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 4329
Gene Symbol: ALDH6A1
ALDH6A1 		aldehyde dehydrogenase 6 family member A1 0.716 0.462 7.6E-10
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.100 None 0 0
Entrez Id: 4329
Gene Symbol: ALDH6A1
ALDH6A1 		aldehyde dehydrogenase 6 family member A1 0.716 0.462 7.6E-10
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		disease 0.100 None 0 0
Entrez Id: 4329
Gene Symbol: ALDH6A1
ALDH6A1 		aldehyde dehydrogenase 6 family member A1 0.716 0.462 7.6E-10
CUI: C0086543
Disease: Cataract
Cataract 		disease 0.100 None 0 0
Entrez Id: 4329
Gene Symbol: ALDH6A1
ALDH6A1 		aldehyde dehydrogenase 6 family member A1 0.716 0.462 7.6E-10
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis 		phenotype 0.100 None 0 0
Entrez Id: 4329
Gene Symbol: ALDH6A1
ALDH6A1 		aldehyde dehydrogenase 6 family member A1 0.716 0.462 7.6E-10
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease 0.100 None 0 0
Entrez Id: 4329
Gene Symbol: ALDH6A1
ALDH6A1 		aldehyde dehydrogenase 6 family member A1 0.716 0.462 7.6E-10
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype 0.100 None 0 0
Entrez Id: 4329
Gene Symbol: ALDH6A1
ALDH6A1 		aldehyde dehydrogenase 6 family member A1 0.716 0.462 7.6E-10
CUI: C0239676
Disease: High forehead
High forehead 		phenotype 0.100 None 0 0
Entrez Id: 4329
Gene Symbol: ALDH6A1
ALDH6A1 		aldehyde dehydrogenase 6 family member A1 0.716 0.462 7.6E-10
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		phenotype 0.100 None 0 0
Entrez Id: 4329
Gene Symbol: ALDH6A1
ALDH6A1 		aldehyde dehydrogenase 6 family member A1 0.716 0.462 7.6E-10
CUI: C1865014
Disease: Long philtrum
Long philtrum 		phenotype 0.100 None 0 0