Source: CLINVAR

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: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		phenotype 0.100 None 0 1
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C0269269
Disease: Inversion of nipple (disorder)
Inversion of nipple (disorder) 		disease 0.100 None 0 1
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		phenotype 0.100 None 0 1
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C0231687
Disease: Spastic gait
Spastic gait 		phenotype 0.100 None 0 1
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C0575059
Disease: Spastic tetraparesis
Spastic tetraparesis 		disease 0.100 None 0 1
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C1868690
Disease: Hypoadrenocorticism, familial
Hypoadrenocorticism, familial 		disease 0.100 None 0 1
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 1
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 1
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		disease 0.100 None 0 1
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C0027059
Disease: Myocarditis
Myocarditis 		disease 0.100 None 0 1
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.100 None 0 1
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		disease 0.100 None 0 1
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C0023015
Disease: Language Disorders
Language Disorders 		group 0.100 None 0 1
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C3714772
Disease: Recurrent fevers
Recurrent fevers 		phenotype 0.100 None 0 1
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C1838993
Disease: Episodic vomiting
Episodic vomiting 		phenotype 0.100 None 0 1
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		phenotype 0.100 None 1.000 1 1 1998 1998
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C1837522
Disease: Impaired pain sensation
Impaired pain sensation 		phenotype 0.100 None 1.000 1 1 1998 1998
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C1849134
Disease: Impaired vibration sensation in the lower limbs
Impaired vibration sensation in the lower limbs 		phenotype 0.100 None 1.000 1 1 1998 1998
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C1855483
Disease: Progressive spastic paraplegia
Progressive spastic paraplegia 		phenotype 0.100 None 1.000 1 1 1998 1998
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C1859520
Disease: Progressive spasticity
Progressive spasticity 		phenotype 0.100 None 1.000 1 1 1998 1998
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C2673700
Disease: Brisk reflexes
Brisk reflexes 		phenotype 0.100 None 1.000 1 1 1998 1998
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C3279397
Disease: Very long chain fatty acid accumulation
Very long chain fatty acid accumulation 		phenotype 0.100 None 1.000 1 1 1998 1998
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C0004096
Disease: Asthma
Asthma 		disease 0.110 None 1.000 1 1 1994 1998
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C1836696
Disease: Lower limb hyperreflexia
Lower limb hyperreflexia 		phenotype 0.100 None 1.000 1 1 1998 1998
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C0749379
Disease: Thoracolumbar scoliosis
Thoracolumbar scoliosis 		disease 0.100 None 1.000 1 1 1998 1998