| Name | OMIM Number | Related Gene Record | WHO-ICD Classification | Mode of Inheritance |
|---|---|---|---|---|
| Herpes Simplex Encephalitis, Susceptibility to, 4 | 614850 | TIR Domain-Containing Adaptor Molecule 1 | Certain infectious and parasitic diseases | |
| Lissencephaly 4 | 614019 | Nude Neurodevelopment Protein 1 | Congenital malformations, deformations and chromosomal abnormalities | Autosomal, Recessive |
| Microphthalmia, Isolated, with Coloboma 9 | 615145 | Teneurin Transmembrane Protein 3 | Congenital malformations, deformations and chromosomal abnormalities | Autosomal, Recessive |
| Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis | 614224 | Insulin-Like Growth Factor-Binding Protein 7 | Diseases of the eye and adnexa | Autosomal, Recessive |
| Ataxia-Oculomotor Apraxia 3 | 615217 | Phosphatidylinositol 3-Kinase, Regulatory Subunit 5 | Diseases of the nervous system | Autosomal, Recessive |
| Name | OMIM Number | Related Disease Record | NCBI Gene ID | Protein Name | Uniprot ID |
|---|---|---|---|---|---|
| TIR Domain-Containing Adaptor Molecule 1 | 607601 | Herpes Simplex Encephalitis, Susceptibility to, 4 | 148022 | TIR domain-containing adapter molecule 1 | Q8IUC6 |
| Nude Neurodevelopment Protein 1 | 609449 | Lissencephaly 4 | 54820 | Nuclear distribution protein nudE homolog 1 | Q9NXR1 |
| Teneurin Transmembrane Protein 3 | 610083 | Microphthalmia, Isolated, with Coloboma 9 | 55714 | Teneurin-3 | Q9P273 |
| Insulin-Like Growth Factor-Binding Protein 7 | 602867 | Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis | 3490 | Insulin-like growth factor-binding protein 7 | Q16270 |
| Phosphatidylinositol 3-Kinase, Regulatory Subunit 5 | 611317 | Ataxia-Oculomotor Apraxia 3 | 23533 | Phosphoinositide 3-kinase regulatory subunit 5 | Q8WYR1 |
| Name | Related Gene Record | dbSNP | Clinvar | Related Disease Record | Clinvar Clinical Significance | CTGA Clinical Significance |
|---|---|---|---|---|---|---|
| NM_182919.4:c.421C>T | TIR Domain-Containing Adaptor Molecule 1 | 387907307 | 37265 | Herpes Simplex Encephalitis, Susceptibility to, 4 | ||
| NM_017668.3:c.684_685del | Nude Neurodevelopment Protein 1 | 756206942 | 30787 | Lissencephaly 4 | ||
| NM_017668.3:c.733dup | Nude Neurodevelopment Protein 1 | 749768828 | 30789 | Lissencephaly 4 | ||
| NM_001080477.4:c.2083dup | Teneurin Transmembrane Protein 3 | 587776950 | 41420 | Microphthalmia, Isolated, with Coloboma 9 | ||
| NM_001553.3:c.830-1G>A | Insulin-Like Growth Factor-Binding Protein 7 | 866994863 | 30280 | Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis |
| Name | OMIM Number | Related Gene Record | WHO-ICD Classification | Mode of Inheritance | |
|---|---|---|---|---|---|
| Herpes Simplex Encephalitis, Susceptibility to, 4 | 614850 | TIR Domain-Containing Adaptor Molecule 1 | Certain infectious and parasitic diseases | ||
| Lissencephaly 4 | 614019 | Nude Neurodevelopment Protein 1 | Congenital malformations, deformations and chromosomal abnormalities | Autosomal, Recessive | |
| Microphthalmia, Isolated, with Coloboma 9 | 615145 | Teneurin Transmembrane Protein 3 | Congenital malformations, deformations and chromosomal abnormalities | Autosomal, Recessive | |
| Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis | 614224 | Insulin-Like Growth Factor-Binding Protein 7 | Diseases of the eye and adnexa | Autosomal, Recessive | |
| Ataxia-Oculomotor Apraxia 3 | 615217 | Phosphatidylinositol 3-Kinase, Regulatory Subunit 5 | Diseases of the nervous system | Autosomal, Recessive |
| Name | OMIM Number | Related Disease Record | NCBI Gene ID | Protein Name | Uniprot ID | |
|---|---|---|---|---|---|---|
| TIR Domain-Containing Adaptor Molecule 1 | 607601 | Herpes Simplex Encephalitis, Susceptibility to, 4 | 148022 | TIR domain-containing adapter molecule 1 | Q8IUC6 | |
| Nude Neurodevelopment Protein 1 | 609449 | Lissencephaly 4 | 54820 | Nuclear distribution protein nudE homolog 1 | Q9NXR1 | |
| Teneurin Transmembrane Protein 3 | 610083 | Microphthalmia, Isolated, with Coloboma 9 | 55714 | Teneurin-3 | Q9P273 | |
| Insulin-Like Growth Factor-Binding Protein 7 | 602867 | Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis | 3490 | Insulin-like growth factor-binding protein 7 | Q16270 | |
| Phosphatidylinositol 3-Kinase, Regulatory Subunit 5 | 611317 | Ataxia-Oculomotor Apraxia 3 | 23533 | Phosphoinositide 3-kinase regulatory subunit 5 | Q8WYR1 |
| Name | Related Gene Record | dbSNP | Clinvar | Related Disease Record | Clinvar Clinical Significance | CTGA Clinical Significance | |
|---|---|---|---|---|---|---|---|
| NM_182919.4:c.421C>T | TIR Domain-Containing Adaptor Molecule 1 | 387907307 | 37265 | Herpes Simplex Encephalitis, Susceptibility to, 4 | |||
| NM_017668.3:c.684_685del | Nude Neurodevelopment Protein 1 | 756206942 | 30787 | Lissencephaly 4 | |||
| NM_017668.3:c.733dup | Nude Neurodevelopment Protein 1 | 749768828 | 30789 | Lissencephaly 4 | |||
| NM_001080477.4:c.2083dup | Teneurin Transmembrane Protein 3 | 587776950 | 41420 | Microphthalmia, Isolated, with Coloboma 9 | |||
| NM_001553.3:c.830-1G>A | Insulin-Like Growth Factor-Binding Protein 7 | 866994863 | 30280 | Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis |