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: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C0497327
Disease: Dementia
Dementia 		disease 0.120 None 1.000 0 0 2007 2013
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C0001403
Disease: Addison Disease
Addison Disease 		disease 0.110 None 1.000 0 0 2004 2004
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		phenotype 0.100 None 0 0
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		phenotype 0.100 None 0 0
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C0542223
Disease: Loss of speech
Loss of speech 		phenotype 0.100 None 0 0
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		phenotype 0.100 None 0 0
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		phenotype 0.100 None 0 0
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease 0.100 None 0 0
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.100 None 0 0
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		phenotype 0.100 None 0 0
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C1843663
Disease: Urinary bladder sphincter dysfunction
Urinary bladder sphincter dysfunction 		phenotype 0.100 None 0 0
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype 0.100 None 0 0
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C1854372
Disease: Impaired vibration sensation at ankles
Impaired vibration sensation at ankles 		phenotype 0.100 None 0 0
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		phenotype 0.100 None 0 0
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		phenotype 0.100 None 0 0
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C0456909
Disease: Blindness
Blindness 		phenotype 0.100 None 0 0
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		phenotype 0.100 None 0 0
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C0002170
Disease: Alopecia
Alopecia 		disease 0.100 None 0 0
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence 		disease 0.100 None 0 0
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		disease 0.100 None 0 0
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		phenotype 0.100 None 0 0
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		group 0.100 None 0 0
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.100 None 0 0
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		disease 0.100 None 0 0
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		phenotype 0.100 None 0 0