| Name | OMIM Number | Related Gene Record | WHO-ICD Classification | Mode of Inheritance |
|---|---|---|---|---|
| Neuropathy, Hereditary Sensory and Autonomic, Type IIB | 613115 | Reticulophagy Regulator 1 | Diseases of the nervous system | Autosomal, Recessive |
| Congenital Myopathy 23 | 609285 | Tropomyosin 2 | Diseases of the nervous system | Autosomal, Dominant |
| Neurofibromatosis, Type I | 162200 | Neurofibromin 1 | Congenital malformations, deformations and chromosomal abnormalities | Autosomal, Dominant |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 | 601287 | Sarcoglycan, Delta | Diseases of the nervous system | Autosomal, Recessive |
| Neuropathy, Hereditary Sensory and Autonomic, Type IIA | 201300 | Protein Kinase, Lysine-Deficient 1 | Diseases of the nervous system | Autosomal, Recessive |
| Name | OMIM Number | Related Disease Record | NCBI Gene ID | Protein Name | Uniprot ID |
|---|---|---|---|---|---|
| SET-Binding Factor 2 | 607697 | Charcot-Marie-Tooth Disease, Type 4B2 | 81846 | Myotubularin-related protein 13 | Q86WG5 |
| Reticulophagy Regulator 1 | 613114 | Neuropathy, Hereditary Sensory and Autonomic, Type IIB | 54463 | Reticulophagy regulator 1 | Q9H6L5 |
| Tropomyosin 2 | 190990 | Congenital Myopathy 23 | 7169 | Tropomyosin beta chain | P07951 |
| RFT1 Homolog | 611908 | Congenital Disorder of Glycosylation, Type In | 91869 | Man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1 | Q96AA3 |
| tRNA Nucleotidyltransferase, CAA-Adding, 1 | 612907 | Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay | 51095 | CCA tRNA nucleotidyltransferase 1, mitochondrial | Q96Q11 |
| Name | Related Gene Record | dbSNP | Clinvar | Related Disease Record | Clinvar Clinical Significance | CTGA Clinical Significance |
|---|---|---|---|---|---|---|
| NM_014862.3:c.147-1G>A | Aryl Hydrocarbon Receptor Nuclear Translocator 2 | Webb-Dattani Syndrome | ||||
| NM_030962.4:c.659C>G | SET-Binding Factor 2 | 3220937 | Charcot-Marie-Tooth Disease, Type 4B2 | |||
| NM_001034850.3:c.926C>G | Reticulophagy Regulator 1 | 137852739 | 328 | Neuropathy, Hereditary Sensory and Autonomic, Type IIB | ||
| NM_058179.4:c.233G>C | Phosphoserine Aminotransferase 1 | 1270171186 | 976983 | Neu-Laxova Syndrome 2 | ||
| NM_000051.4:c.5185G>C | Ataxia-Telangiectasia Mutated Gene | 3092907 | 127401 | Ataxia-Telangiectasia |
| Name | OMIM Number | Related Gene Record | WHO-ICD Classification | Mode of Inheritance | |
|---|---|---|---|---|---|
| Neuropathy, Hereditary Sensory and Autonomic, Type IIB | 613115 | Reticulophagy Regulator 1 | Diseases of the nervous system | Autosomal, Recessive | |
| Congenital Myopathy 23 | 609285 | Tropomyosin 2 | Diseases of the nervous system | Autosomal, Dominant | |
| Neurofibromatosis, Type I | 162200 | Neurofibromin 1 | Congenital malformations, deformations and chromosomal abnormalities | Autosomal, Dominant | |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 | 601287 | Sarcoglycan, Delta | Diseases of the nervous system | Autosomal, Recessive | |
| Neuropathy, Hereditary Sensory and Autonomic, Type IIA | 201300 | Protein Kinase, Lysine-Deficient 1 | Diseases of the nervous system | Autosomal, Recessive |
| Name | OMIM Number | Related Disease Record | NCBI Gene ID | Protein Name | Uniprot ID | |
|---|---|---|---|---|---|---|
| SET-Binding Factor 2 | 607697 | Charcot-Marie-Tooth Disease, Type 4B2 | 81846 | Myotubularin-related protein 13 | Q86WG5 | |
| Reticulophagy Regulator 1 | 613114 | Neuropathy, Hereditary Sensory and Autonomic, Type IIB | 54463 | Reticulophagy regulator 1 | Q9H6L5 | |
| Tropomyosin 2 | 190990 | Congenital Myopathy 23 | 7169 | Tropomyosin beta chain | P07951 | |
| RFT1 Homolog | 611908 | Congenital Disorder of Glycosylation, Type In | 91869 | Man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1 | Q96AA3 | |
| tRNA Nucleotidyltransferase, CAA-Adding, 1 | 612907 | Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay | 51095 | CCA tRNA nucleotidyltransferase 1, mitochondrial | Q96Q11 |
| Name | Related Gene Record | dbSNP | Clinvar | Related Disease Record | Clinvar Clinical Significance | CTGA Clinical Significance | |
|---|---|---|---|---|---|---|---|
| NM_014862.3:c.147-1G>A | Aryl Hydrocarbon Receptor Nuclear Translocator 2 | Webb-Dattani Syndrome | |||||
| NM_030962.4:c.659C>G | SET-Binding Factor 2 | 3220937 | Charcot-Marie-Tooth Disease, Type 4B2 | ||||
| NM_001034850.3:c.926C>G | Reticulophagy Regulator 1 | 137852739 | 328 | Neuropathy, Hereditary Sensory and Autonomic, Type IIB | |||
| NM_058179.4:c.233G>C | Phosphoserine Aminotransferase 1 | 1270171186 | 976983 | Neu-Laxova Syndrome 2 | |||
| NM_000051.4:c.5185G>C | Ataxia-Telangiectasia Mutated Gene | 3092907 | 127401 | Ataxia-Telangiectasia |