| Name | OMIM Number | Related Gene Record | WHO-ICD Classification | Mode of Inheritance |
|---|---|---|---|---|
| GM2-Gangliosidosis, AB Variant | 272750 | GM2 Activator | Endocrine, nutritional and metabolic diseases | Autosomal, Recessive |
| Sars-Cov-2 Infection, Susceptibility to | Major Histocompatibility Complex, Class I, A; Major Histocompatibility Complex, Class II, DR Beta-1; Major Histocompatibility Complex, Class I, B; Major Histocompatibility Complex, Class I, C; Major Histocompatibility Complex, Class II, DQ Beta-1 | Codes for special purposes | ||
| Developmental Dysplasia of Hip | 142700 | Congenital malformations, deformations and chromosomal abnormalities | ||
| Cardiofaciocutaneous Syndrome 1 | 115150 | B-Raf Protooncogene, Serine/Threonine Kinase | Congenital malformations, deformations and chromosomal abnormalities | Autosomal, Dominant |
| Angelman Syndrome | 105830 | Ubiquitin-Protein Ligase E3a | Congenital malformations, deformations and chromosomal abnormalities | Autosomal, Dominant |
| Name | OMIM Number | Related Disease Record | NCBI Gene ID | Protein Name | Uniprot ID |
|---|---|---|---|---|---|
| GM2 Activator | 613109 | GM2-Gangliosidosis, AB Variant | 2760 | Ganglioside GM2 activator | P17900 |
| Nuclear Export Mediator Factor | 608378 | Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy | 9147 | Ribosome quality control complex subunit NEMF | O60524 |
| SRY-BOX 3 | 313430 | Panhypopituitarism, X-Linked | |||
| Fragile Histidine Triad Gene | 601153 | Breast Cancer | |||
| Methylguanine-DNA Methyltransferase | 156569 | Lymphoma, Non-Hodgkin, Familial |
| Name | Related Gene Record | dbSNP | Clinvar | Related Disease Record | Clinvar Clinical Significance | CTGA Clinical Significance |
|---|---|---|---|---|---|---|
| NM_001025366.2:c.855+175C>T | Vascular Endothelial Growth Factor A | 3024998 | Type 2 Diabetes Mellitus | |||
| NM_000405.5:c.262_264del | GM2 Activator | 1753894328 | 976256 | GM2-Gangliosidosis, AB Variant | ||
| NM_001553.3:c.830-1G>A | Insulin-Like Growth Factor-Binding Protein 7 | 866994863 | 30280 | Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis | ||
| NM_024006.4:c.283+837= | Vitamin K Epoxide Reductase Complex, Subunit 1 | 2359612 | 515931 | Coumarin Resistance | ||
| NM_000603.5:c.2984+228= | Nitric Oxide Synthase 3 | Type 2 Diabetes Mellitus |
| Name | OMIM Number | Related Gene Record | WHO-ICD Classification | Mode of Inheritance | |
|---|---|---|---|---|---|
| GM2-Gangliosidosis, AB Variant | 272750 | GM2 Activator | Endocrine, nutritional and metabolic diseases | Autosomal, Recessive | |
| Sars-Cov-2 Infection, Susceptibility to | Major Histocompatibility Complex, Class I, A; Major Histocompatibility Complex, Class II, DR Beta-1; Major Histocompatibility Complex, Class I, B; Major Histocompatibility Complex, Class I, C; Major Histocompatibility Complex, Class II, DQ Beta-1 | Codes for special purposes | |||
| Developmental Dysplasia of Hip | 142700 | Congenital malformations, deformations and chromosomal abnormalities | |||
| Cardiofaciocutaneous Syndrome 1 | 115150 | B-Raf Protooncogene, Serine/Threonine Kinase | Congenital malformations, deformations and chromosomal abnormalities | Autosomal, Dominant | |
| Angelman Syndrome | 105830 | Ubiquitin-Protein Ligase E3a | Congenital malformations, deformations and chromosomal abnormalities | Autosomal, Dominant |
| Name | OMIM Number | Related Disease Record | NCBI Gene ID | Protein Name | Uniprot ID | |
|---|---|---|---|---|---|---|
| GM2 Activator | 613109 | GM2-Gangliosidosis, AB Variant | 2760 | Ganglioside GM2 activator | P17900 | |
| Nuclear Export Mediator Factor | 608378 | Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy | 9147 | Ribosome quality control complex subunit NEMF | O60524 | |
| SRY-BOX 3 | 313430 | Panhypopituitarism, X-Linked | ||||
| Fragile Histidine Triad Gene | 601153 | Breast Cancer | ||||
| Methylguanine-DNA Methyltransferase | 156569 | Lymphoma, Non-Hodgkin, Familial |
| Name | Related Gene Record | dbSNP | Clinvar | Related Disease Record | Clinvar Clinical Significance | CTGA Clinical Significance | |
|---|---|---|---|---|---|---|---|
| NM_001025366.2:c.855+175C>T | Vascular Endothelial Growth Factor A | 3024998 | Type 2 Diabetes Mellitus | ||||
| NM_000405.5:c.262_264del | GM2 Activator | 1753894328 | 976256 | GM2-Gangliosidosis, AB Variant | |||
| NM_001553.3:c.830-1G>A | Insulin-Like Growth Factor-Binding Protein 7 | 866994863 | 30280 | Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis | |||
| NM_024006.4:c.283+837= | Vitamin K Epoxide Reductase Complex, Subunit 1 | 2359612 | 515931 | Coumarin Resistance | |||
| NM_000603.5:c.2984+228= | Nitric Oxide Synthase 3 | Type 2 Diabetes Mellitus |