Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3553915
Disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE 		0.700 Biomarker disease CTD_human
CUI: C3553915
Disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE 		0.700 CausalMutation disease CLINVAR
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		0.100 Biomarker phenotype HPO
CUI: C0019880
Disease: Homocystinuria
Homocystinuria 		0.100 Biomarker disease HPO
CUI: C0023380
Disease: Lethargy
Lethargy 		0.100 Biomarker phenotype HPO
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.100 Biomarker disease HPO
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.100 Biomarker phenotype HPO
CUI: C0231471
Disease: Abnormal posture
Abnormal posture 		0.100 Biomarker phenotype HPO
CUI: C0231835
Disease: Tachypnea
Tachypnea 		0.100 Biomarker phenotype HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 Biomarker phenotype HPO
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		0.100 Biomarker phenotype HPO
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 Biomarker phenotype HPO
CUI: C1848556
Disease: Decreased adenosylcobalamin
Decreased adenosylcobalamin 		0.100 Biomarker phenotype HPO
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		0.100 Biomarker disease HPO
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker phenotype HPO
CUI: C3806347
Disease: Hyperhomocystinemia
Hyperhomocystinemia 		0.100 Biomarker phenotype HPO
CUI: C0342704
Disease: Deficiency of Cobalamin G
Deficiency of Cobalamin G 		0.010 GeneticVariation disease BEFREE Cobalamin G (cblG) and cobalamin J (cblJ) defects are rare disorders of cbl metabolism caused by MTR and ABCD4 mutations, respectively. 30651581 2019
CUI: C3553915
Disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE 		0.700 Biomarker disease GENOMICS_ENGLAND Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: diagnosis and novel mutation revealed by exome sequencing. 23141461 2012
CUI: C3553915
Disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE 		0.700 GeneticVariation disease UNIPROT Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. 22922874 2012
CUI: C3553915
Disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. 22922874 2012
CUI: C3553915
Disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE 		0.700 GermlineCausalMutation disease ORPHANET Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. 22922874 2012
CUI: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism 		0.300 Biomarker group CTD_human Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. 22922874 2012
CUI: C0042847
Disease: Vitamin B 12 Deficiency
Vitamin B 12 Deficiency 		0.300 Biomarker disease CTD_human Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. 22922874 2012
CUI: C0041782
Disease: Deficiency anemias
Deficiency anemias 		0.010 Biomarker group BEFREE Our study provides an insight that the analysis of the newly-established abcd4 mutant may contribute to understanding its roles in ABCD4-related vitamin B<sub>12</sub>-deficiency anemia and the associated pathogeneses in humans. 31113616 2019