EC Number |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
---|
1.2.1.50 | Cataract |
25439727 |
A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency. |
causal interaction unassigned |
2 0 |
1.2.1.50 | Cataract |
26933529 |
Fatty Acyl-CoA Reductase 1 Deficiency. |
causal interaction unassigned |
2 0 |
1.2.1.50 | Epilepsy |
25439727 |
A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency. |
causal interaction unassigned |
2 0 |
1.2.1.50 | Epilepsy |
26933529 |
Fatty Acyl-CoA Reductase 1 Deficiency. |
causal interaction unassigned |
2 0 |
1.2.1.50 | Intellectual Disability |
25439727 |
A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency. |
causal interaction unassigned |
2 0 |
1.2.1.50 | Intellectual Disability |
26933529 |
Fatty Acyl-CoA Reductase 1 Deficiency. |
causal interaction unassigned |
2 0 |
1.2.1.50 | long-chain acyl-protein thioester reductase deficiency |
25439727 |
A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency. |
causal interaction unassigned |
2 0 |
1.2.1.50 | long-chain acyl-protein thioester reductase deficiency |
26933529 |
Fatty Acyl-CoA Reductase 1 Deficiency. |
causal interaction unassigned |
2 0 |
1.2.1.50 | long-chain acyl-protein thioester reductase deficiency |
31870493 |
Familial Mitral Arcade, Tricuspid Dysplasia, Left Ventricular Noncompaction and Short-Chain Acyl-CoA Reductase Deficiency. |
causal interaction unassigned |
2 0 |
1.2.1.50 | long-chain acyl-protein thioester reductase deficiency |
33586168 |
A rare case of fatty acyl-CoA reductase 1 deficiency in an Indian infant manifesting rhizomelic chondrodystrophy phenotype. |
causal interaction unassigned |
2 0 |