| Name | OMIM Number | Related Gene Record | WHO-ICD Classification | Mode of Inheritance |
|---|---|---|---|---|
| Neuropathy, Hereditary Sensory and Autonomic, Type IX, with Developmental Delay | 615031 | Tectonin Beta-Propeller Repeat-Containing Protein 2 | Diseases of the nervous system | Autosomal, Recessive |
| Usher Syndrome, Type ID | 601067 | Cadherin 23 | Diseases of the eye and adnexa | Autosomal, Recessive |
| Microvascular Complications of Diabetes, Susceptibility to, 1 | 603933 | Nonmetastatic Cells 3, Protein Expressed in; Fas-Activated Serine/Threonine Kinase; Shroom Family Member 3 | Endocrine, nutritional and metabolic diseases | |
| Orotic Aciduria | 258900 | Uridine Monophosphate Synthetase | Congenital malformations, deformations and chromosomal abnormalities | Autosomal, Recessive |
| Developmental And Epileptic Encephalopathy 62 | 617938 | Sodium Voltage-Gated Channel, Alpha Subunit 3 | Diseases of the nervous system | Autosomal, Dominant |
| Name | OMIM Number | Related Disease Record | NCBI Gene ID | Protein Name | Uniprot ID |
|---|---|---|---|---|---|
| Tectonin Beta-Propeller Repeat-Containing Protein 2 | 615000 | Neuropathy, Hereditary Sensory and Autonomic, Type IX, with Developmental Delay | 9895 | Tectonin beta-propeller repeat-containing protein 2 | O15040 |
| Arylsulfatase B | 611542 | Mucopolysaccharidosis Type VI | 411 | Arylsulfatase B | P15848 |
| Cadherin 23 | 605516 | Usher Syndrome, Type ID; Deafness, Autosomal Recessive 12 | 64072 | Cadherin-23 | Q9H251 |
| R-Spondin 3 | 610574 | 84870 | R-spondin-3 | Q9BXY4 | |
| BCAS3 Microtubule-Associated Cell Migration Factor | 607470 | 54828 | BCAS3 microtubule associated cell migration factor | Q9H6U6 |
| Name | Related Gene Record | dbSNP | Clinvar | Related Disease Record | Clinical Significance |
|---|---|---|---|---|---|
| NM_032784.4:c.634+134= | R-Spondin 3 | 2489629 | |||
| NM_032784.4:c.437-953T>C | R-Spondin 3 | 4382293 | |||
| NM_032784.4:c.634+4571A>C | R-Spondin 3 | 4644087 | |||
| NM_032784.5:c.567G>A | R-Spondin 3 | 1892172 | |||
| NM_000046.5:c.475C>T | Arylsulfatase B | 202134230 | 1195895 | Usher Syndrome, Type ID |
| Name | OMIM Number | Related Gene Record | WHO-ICD Classification | Mode of Inheritance | |
|---|---|---|---|---|---|
| Neuropathy, Hereditary Sensory and Autonomic, Type IX, with Developmental Delay | 615031 | Tectonin Beta-Propeller Repeat-Containing Protein 2 | Diseases of the nervous system | Autosomal, Recessive | |
| Usher Syndrome, Type ID | 601067 | Cadherin 23 | Diseases of the eye and adnexa | Autosomal, Recessive | |
| Microvascular Complications of Diabetes, Susceptibility to, 1 | 603933 | Nonmetastatic Cells 3, Protein Expressed in; Fas-Activated Serine/Threonine Kinase; Shroom Family Member 3 | Endocrine, nutritional and metabolic diseases | ||
| Orotic Aciduria | 258900 | Uridine Monophosphate Synthetase | Congenital malformations, deformations and chromosomal abnormalities | Autosomal, Recessive | |
| Developmental And Epileptic Encephalopathy 62 | 617938 | Sodium Voltage-Gated Channel, Alpha Subunit 3 | Diseases of the nervous system | Autosomal, Dominant |
| Name | OMIM Number | Related Disease Record | NCBI Gene ID | Protein Name | Uniprot ID | |
|---|---|---|---|---|---|---|
| Tectonin Beta-Propeller Repeat-Containing Protein 2 | 615000 | Neuropathy, Hereditary Sensory and Autonomic, Type IX, with Developmental Delay | 9895 | Tectonin beta-propeller repeat-containing protein 2 | O15040 | |
| Arylsulfatase B | 611542 | Mucopolysaccharidosis Type VI | 411 | Arylsulfatase B | P15848 | |
| Cadherin 23 | 605516 | Usher Syndrome, Type ID; Deafness, Autosomal Recessive 12 | 64072 | Cadherin-23 | Q9H251 | |
| R-Spondin 3 | 610574 | 84870 | R-spondin-3 | Q9BXY4 | ||
| BCAS3 Microtubule-Associated Cell Migration Factor | 607470 | 54828 | BCAS3 microtubule associated cell migration factor | Q9H6U6 |
| Name | Related Gene Record | dbSNP | Clinvar | Related Disease Record | Clinical Significance | |
|---|---|---|---|---|---|---|
| NM_032784.4:c.634+134= | R-Spondin 3 | 2489629 | ||||
| NM_032784.4:c.437-953T>C | R-Spondin 3 | 4382293 | ||||
| NM_032784.4:c.634+4571A>C | R-Spondin 3 | 4644087 | ||||
| NM_032784.5:c.567G>A | R-Spondin 3 | 1892172 | ||||
| NM_000046.5:c.475C>T | Arylsulfatase B | 202134230 | 1195895 | Usher Syndrome, Type ID |