Source: INFERRED

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: 5826
Gene Symbol: ABCD4
ABCD4 		ATP binding cassette subfamily D member 4 0.769 0.308 1.3E-12
CUI: C3553915
Disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE 		disease 0.700 None 1.000 0 4 2012 2015
Entrez Id: 5826
Gene Symbol: ABCD4
ABCD4 		ATP binding cassette subfamily D member 4 0.769 0.308 1.3E-12
CUI: C0002871
Disease: Anemia
Anemia 		disease 0.100 None 0 0
Entrez Id: 5826
Gene Symbol: ABCD4
ABCD4 		ATP binding cassette subfamily D member 4 0.769 0.308 1.3E-12
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 5826
Gene Symbol: ABCD4
ABCD4 		ATP binding cassette subfamily D member 4 0.769 0.308 1.3E-12
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		disease 0.100 None 0 0
Entrez Id: 5826
Gene Symbol: ABCD4
ABCD4 		ATP binding cassette subfamily D member 4 0.769 0.308 1.3E-12
CUI: C1848556
Disease: Decreased adenosylcobalamin
Decreased adenosylcobalamin 		phenotype 0.100 None 0 0
Entrez Id: 5826
Gene Symbol: ABCD4
ABCD4 		ATP binding cassette subfamily D member 4 0.769 0.308 1.3E-12
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 0
Entrez Id: 5826
Gene Symbol: ABCD4
ABCD4 		ATP binding cassette subfamily D member 4 0.769 0.308 1.3E-12
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		phenotype 0.100 None 0 0
Entrez Id: 5826
Gene Symbol: ABCD4
ABCD4 		ATP binding cassette subfamily D member 4 0.769 0.308 1.3E-12
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype 0.100 None 0 0
Entrez Id: 5826
Gene Symbol: ABCD4
ABCD4 		ATP binding cassette subfamily D member 4 0.769 0.308 1.3E-12
CUI: C0231835
Disease: Tachypnea
Tachypnea 		phenotype 0.100 None 0 0
Entrez Id: 5826
Gene Symbol: ABCD4
ABCD4 		ATP binding cassette subfamily D member 4 0.769 0.308 1.3E-12
CUI: C0231471
Disease: Abnormal posture
Abnormal posture 		phenotype 0.100 None 0 0
Entrez Id: 5826
Gene Symbol: ABCD4
ABCD4 		ATP binding cassette subfamily D member 4 0.769 0.308 1.3E-12
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		phenotype 0.100 None 0 0
Entrez Id: 5826
Gene Symbol: ABCD4
ABCD4 		ATP binding cassette subfamily D member 4 0.769 0.308 1.3E-12
CUI: C0027947
Disease: Neutropenia
Neutropenia 		disease 0.100 None 0 0
Entrez Id: 5826
Gene Symbol: ABCD4
ABCD4 		ATP binding cassette subfamily D member 4 0.769 0.308 1.3E-12
CUI: C0023380
Disease: Lethargy
Lethargy 		phenotype 0.100 None 0 0
Entrez Id: 5826
Gene Symbol: ABCD4
ABCD4 		ATP binding cassette subfamily D member 4 0.769 0.308 1.3E-12
CUI: C0019880
Disease: Homocystinuria
Homocystinuria 		disease 0.100 None 0 0
Entrez Id: 5826
Gene Symbol: ABCD4
ABCD4 		ATP binding cassette subfamily D member 4 0.769 0.308 1.3E-12
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		phenotype 0.100 None 0 0
Entrez Id: 5826
Gene Symbol: ABCD4
ABCD4 		ATP binding cassette subfamily D member 4 0.769 0.308 1.3E-12
CUI: C3806347
Disease: Hyperhomocystinemia
Hyperhomocystinemia 		phenotype 0.100 None 0 0