| Name | OMIM Number | Related Gene Record | WHO-ICD Classification | Mode of Inheritance |
|---|---|---|---|---|
| Cataract 11, Multiple Types | 610623 | Paired-Like Homeodomain Transcription Factor 3 | Diseases of the eye and adnexa | Autosomal, Dominant |
| Anterior Segment Dysgenesis 5 | 604229 | Paired Box Gene 6 | Congenital malformations, deformations and chromosomal abnormalities | Autosomal, Dominant |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm | 608653 | Cell Division Cycle 14A | Diseases of the ear and mastoid process | Autosomal, Recessive |
| Microphthalmia, Syndromic 5 | 610125 | Orthodenticle Homeobox 2 | Congenital malformations, deformations and chromosomal abnormalities | Autosomal, Dominant |
| Microphthalmia, Isolated, with Coloboma 1 | 300345 | Myosin X | Congenital malformations, deformations and chromosomal abnormalities | Autosomal, X-linked, Recessive |
| Name | OMIM Number | Related Disease Record | NCBI Gene ID | Protein Name | Uniprot ID |
|---|---|---|---|---|---|
| Paired-Like Homeodomain Transcription Factor 3 | 602669 | Cataract 11, Multiple Types; Anterior Segment Dysgenesis 1 | 5309 | Pituitary homeobox 3 | O75364 |
| Paired Box Gene 6 | 607108 | Aniridia; Anterior Segment Dysgenesis 5 | 5080 | Paired box protein Pax-6 | P26367 |
| Cell Division Cycle 14A | 603504 | Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm | 8556 | Dual specificity protein phosphatase CDC14A | Q9UNH5 |
| Orthodenticle Homeobox 2 | 600037 | Microphthalmia, Syndromic 5 | 5015 | Homeobox protein OTX2 | P32243 |
| Myosin X | 601481 | Microphthalmia, Isolated, with Coloboma 1 | 4651 | Unconventional myosin-X | Q9HD67 |
| Name | Related Gene Record | dbSNP | Clinvar | Related Disease Record | Clinvar Clinical Significance | CTGA Clinical Significance |
|---|---|---|---|---|---|---|
| NM_005029.3:c.640_656del | Paired-Like Homeodomain Transcription Factor 3 | 1411557416 | 468252 | Cataract 11, Multiple Types; Anterior Segment Dysgenesis 1 | ||
| NM_001368894.2:c.664C>T | Paired Box Gene 6 | 757259413 | 372441 | Anterior Segment Dysgenesis 5 | ||
| NM_003672.4:c.934C>G | Cell Division Cycle 14A | 148737918 | 559436 | |||
| NM_015466.4:c.3995G>T | Protein-Tyrosine Phosphatase, Nonreceptor-Type, 23 | 730882229 | 183326 | Neurodevelopmental Disorder and Structural Brain Anomalies with or without Seizures and Spasticity | ||
| NM_021728.4:c.278G>A | Orthodenticle Homeobox 2 | Microphthalmia, Syndromic 5 |
| Name | OMIM Number | Related Gene Record | WHO-ICD Classification | Mode of Inheritance | |
|---|---|---|---|---|---|
| Cataract 11, Multiple Types | 610623 | Paired-Like Homeodomain Transcription Factor 3 | Diseases of the eye and adnexa | Autosomal, Dominant | |
| Anterior Segment Dysgenesis 5 | 604229 | Paired Box Gene 6 | Congenital malformations, deformations and chromosomal abnormalities | Autosomal, Dominant | |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm | 608653 | Cell Division Cycle 14A | Diseases of the ear and mastoid process | Autosomal, Recessive | |
| Microphthalmia, Syndromic 5 | 610125 | Orthodenticle Homeobox 2 | Congenital malformations, deformations and chromosomal abnormalities | Autosomal, Dominant | |
| Microphthalmia, Isolated, with Coloboma 1 | 300345 | Myosin X | Congenital malformations, deformations and chromosomal abnormalities | Autosomal, X-linked, Recessive |
| Name | OMIM Number | Related Disease Record | NCBI Gene ID | Protein Name | Uniprot ID | |
|---|---|---|---|---|---|---|
| Paired-Like Homeodomain Transcription Factor 3 | 602669 | Cataract 11, Multiple Types; Anterior Segment Dysgenesis 1 | 5309 | Pituitary homeobox 3 | O75364 | |
| Paired Box Gene 6 | 607108 | Aniridia; Anterior Segment Dysgenesis 5 | 5080 | Paired box protein Pax-6 | P26367 | |
| Cell Division Cycle 14A | 603504 | Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm | 8556 | Dual specificity protein phosphatase CDC14A | Q9UNH5 | |
| Orthodenticle Homeobox 2 | 600037 | Microphthalmia, Syndromic 5 | 5015 | Homeobox protein OTX2 | P32243 | |
| Myosin X | 601481 | Microphthalmia, Isolated, with Coloboma 1 | 4651 | Unconventional myosin-X | Q9HD67 |
| Name | Related Gene Record | dbSNP | Clinvar | Related Disease Record | Clinvar Clinical Significance | CTGA Clinical Significance | |
|---|---|---|---|---|---|---|---|
| NM_005029.3:c.640_656del | Paired-Like Homeodomain Transcription Factor 3 | 1411557416 | 468252 | Cataract 11, Multiple Types; Anterior Segment Dysgenesis 1 | |||
| NM_001368894.2:c.664C>T | Paired Box Gene 6 | 757259413 | 372441 | Anterior Segment Dysgenesis 5 | |||
| NM_003672.4:c.934C>G | Cell Division Cycle 14A | 148737918 | 559436 | ||||
| NM_015466.4:c.3995G>T | Protein-Tyrosine Phosphatase, Nonreceptor-Type, 23 | 730882229 | 183326 | Neurodevelopmental Disorder and Structural Brain Anomalies with or without Seizures and Spasticity | |||
| NM_021728.4:c.278G>A | Orthodenticle Homeobox 2 | Microphthalmia, Syndromic 5 |