| Name | OMIM Number | Related Gene Record | WHO-ICD Classification | Mode of Inheritance |
|---|---|---|---|---|
| Carnitine-Acylcarnitine Translocase Deficiency; CACTD | 212138 | Solute Carrier Family 25 (Carnitine/Acylcarnitine Translocase), Member 20 | Endocrine, nutritional and metabolic diseases | Autosomal, Recessive |
| Glutaric Acidemia I | 231670 | Glutaryl-CoA Dehydrogenase | Endocrine, nutritional and metabolic diseases | Autosomal, Recessive |
| Mannosidosis, Alpha B, Lysosomal | 248500 | Mannosidase, Alpha, Class 2b, Member 1 | Endocrine, nutritional and metabolic diseases | Autosomal, Recessive |
| Mannosidosis, Beta A, Lysosomal | 248510 | Mannosidase, Beta A, Lysosomal | Endocrine, nutritional and metabolic diseases | Autosomal, Recessive |
| Argininosuccinic Aciduria | 207900 | Argininosuccinate Lyase | Endocrine, nutritional and metabolic diseases | Autosomal, Recessive |
| Name | OMIM Number | Related Disease Record | NCBI Gene ID | Protein Name | Uniprot ID |
|---|---|---|---|---|---|
| Uncharacterized LOC105369832 | 0 | 105369832 | |||
| BCL2-Like 11 | 603827 | 10018 | Bcl-2-like protein 11 | O43521 | |
| Cell Division Cycle 123 | 617708 | 8872 | Cell division cycle protein 123 homolog | O75794 | |
| Solute Carrier Family 25 (Carnitine/Acylcarnitine Translocase), Member 20 | 613698 | Carnitine-Acylcarnitine Translocase Deficiency; CACTD | 788 | Mitochondrial carnitine/acylcarnitine carrier protein | O43772 |
| Glutaryl-CoA Dehydrogenase | 608801 | Glutaric Acidemia I | 2639 | Glutaryl-CoA Dehydrogenase, Mitochondrial | Q92947 |
| Name | OMIM Number | Related Gene Record | WHO-ICD Classification | Mode of Inheritance | |
|---|---|---|---|---|---|
| Carnitine-Acylcarnitine Translocase Deficiency; CACTD | 212138 | Solute Carrier Family 25 (Carnitine/Acylcarnitine Translocase), Member 20 | Endocrine, nutritional and metabolic diseases | Autosomal, Recessive | |
| Glutaric Acidemia I | 231670 | Glutaryl-CoA Dehydrogenase | Endocrine, nutritional and metabolic diseases | Autosomal, Recessive | |
| Mannosidosis, Alpha B, Lysosomal | 248500 | Mannosidase, Alpha, Class 2b, Member 1 | Endocrine, nutritional and metabolic diseases | Autosomal, Recessive | |
| Mannosidosis, Beta A, Lysosomal | 248510 | Mannosidase, Beta A, Lysosomal | Endocrine, nutritional and metabolic diseases | Autosomal, Recessive | |
| Argininosuccinic Aciduria | 207900 | Argininosuccinate Lyase | Endocrine, nutritional and metabolic diseases | Autosomal, Recessive |
| Name | OMIM Number | Related Disease Record | NCBI Gene ID | Protein Name | Uniprot ID | |
|---|---|---|---|---|---|---|
| Uncharacterized LOC105369832 | 0 | 105369832 | ||||
| BCL2-Like 11 | 603827 | 10018 | Bcl-2-like protein 11 | O43521 | ||
| Cell Division Cycle 123 | 617708 | 8872 | Cell division cycle protein 123 homolog | O75794 | ||
| Solute Carrier Family 25 (Carnitine/Acylcarnitine Translocase), Member 20 | 613698 | Carnitine-Acylcarnitine Translocase Deficiency; CACTD | 788 | Mitochondrial carnitine/acylcarnitine carrier protein | O43772 | |
| Glutaryl-CoA Dehydrogenase | 608801 | Glutaric Acidemia I | 2639 | Glutaryl-CoA Dehydrogenase, Mitochondrial | Q92947 |
| Name | Related Gene Record | dbSNP | Clinvar | Related Disease Record | Clinical Significance | |
|---|---|---|---|---|---|---|
| NC_000012.12:g.71269322= | Uncharacterized LOC105369832 | 7961581 | ||||
| NC_000002.12:g.111192964T>C | BCL2-Like 11 | 11123406 | ||||
| NM_000387.5:c.82G>T | Solute Carrier Family 25 (Carnitine/Acylcarnitine Translocase), Member 20 | 747335514 | Carnitine-Acylcarnitine Translocase Deficiency; CACTD | |||
| NC_000010.11:g.12265895C>T | Cell Division Cycle 123 | 11257655 | ||||
| NM_005908.3:c.545G>A | Mannosidase, Beta A, Lysosomal | 759103361 | 984911 | Mannosidosis, Beta A, Lysosomal |