Source: ALL

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: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease 0.100 None 0 0
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C1836047
Disease: Long face
Long face
phenotype 0.100 None 0 0
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C1834129
Disease: Abnormal vertebral morphology
Abnormal vertebral morphology
phenotype 0.100 None 0 0
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.100 None 0 0
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 0 0
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia
phenotype 0.100 None 0 0
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.100 None 0 0
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
disease 0.100 None 0 1
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0033377
Disease: Ptosis
Ptosis
disease 0.100 None 0 0
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
Abnormal form of the vertebral bodies
phenotype 0.100 None 0 0
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype 0.100 None 0 0
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia
phenotype 0.100 None 0 0
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
disease 0.100 None 0 0
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0020619
Disease: Hypogonadism
Hypogonadism
disease 0.100 None 0 0
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears
phenotype 0.100 None 0 0
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0022578
Disease: Keratoconus
Keratoconus
disease 0.100 None 0 0
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing
phenotype 0.100 None 0 0
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
phenotype 0.100 None 0 0
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease 0.100 None 0 0
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.100 None 0 0
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 0 0
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0241726
Disease: Delayed ability to walk
Delayed ability to walk
phenotype 0.100 None 0 0
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Abelson helper integration site 1 0.513 0.846 1.1E-25
CUI: C0240896
Disease: Fundus coloboma
Fundus coloboma
disease 0.100 None 0 0