| Name | OMIM Number | Related Gene Record | WHO-ICD Classification | Mode of Inheritance |
|---|---|---|---|---|
| Brittle Cornea Syndrome 1 | 229200 | Zinc Finger Protein 469 | Congenital malformations, deformations and chromosomal abnormalities | Autosomal, Recessive |
| Retinitis Pigmentosa 28 | 606068 | Family With Sequence Similarity 161, Member A | Diseases of the eye and adnexa | Autosomal, Recessive |
| Osteogenesis Imperfecta, Type XVII | 616507 | Secreted Protein, Acidic, Cysteine-Rich | Congenital malformations, deformations and chromosomal abnormalities | Autosomal, Recessive |
| Cutis Laxa, Autosomal Recessive, Type IIB | 612940 | Pyrroline-5-Carboxylate Reductase 1 | Congenital malformations, deformations and chromosomal abnormalities | Autosomal, Recessive |
| Choroideremia | 303100 | CHM RAB Escort Protein | Diseases of the eye and adnexa | X-linked |
| Name | OMIM Number | Related Disease Record | NCBI Gene ID | Protein Name | Uniprot ID |
|---|---|---|---|---|---|
| Zinc Finger Protein 469 | 612078 | Brittle Cornea Syndrome 1 | 84627 | Zinc finger protein 469 | Q96JG9 |
| Family With Sequence Similarity 161, Member A | 613596 | Retinitis Pigmentosa 28 | 84140 | Protein FAM161A | Q3B820 |
| Secreted Protein, Acidic, Cysteine-Rich | 182120 | Osteogenesis Imperfecta, Type XVII | 6678 | SPARC | P09486 |
| Pyrroline-5-Carboxylate Reductase 1 | 179035 | Cutis Laxa, Autosomal Recessive, Type IIB; Cutis Laxa, Autosomal Recessive, Type IIIB | 5831 | Pyrroline-5-carboxylate reductase 1, mitochondrial | P32322 |
| Retinaldehyde-Binding Protein 1 | 180090 | Fundus Albipunctatus | 6017 | Retinaldehyde-binding protein 1 | P12271 |
| Name | Related Gene Record | dbSNP | Clinvar | Related Disease Record | Clinvar Clinical Significance | CTGA Clinical Significance |
|---|---|---|---|---|---|---|
| NM_001367624.2:c.8901_8914dup | Zinc Finger Protein 469 | Brittle Cornea Syndrome 1 | ||||
| NM_001201543.2:c.685C>T | Family With Sequence Similarity 161, Member A | 528466850 | 35 | Retinitis Pigmentosa 28 | ||
| NM_201253.3:c.1180T>C | Crumbs, Drosophila, Homolog of, 1 | 786205450 | 190990 | Retinitis Pigmentosa 12 | ||
| NM_000350.3:c.1630_1633dup | ATP-Binding Cassette, Subfamily A, Member 4 | 793888523 | 191262 | Retinitis Pigmentosa 19 | ||
| NM_000554.6:c.695del | Cone-Rod Homeobox-Containing Gene | 892091933 | 191298 | Retinitis Pigmentosa |
| Name | OMIM Number | Related Gene Record | WHO-ICD Classification | Mode of Inheritance | |
|---|---|---|---|---|---|
| Brittle Cornea Syndrome 1 | 229200 | Zinc Finger Protein 469 | Congenital malformations, deformations and chromosomal abnormalities | Autosomal, Recessive | |
| Retinitis Pigmentosa 28 | 606068 | Family With Sequence Similarity 161, Member A | Diseases of the eye and adnexa | Autosomal, Recessive | |
| Osteogenesis Imperfecta, Type XVII | 616507 | Secreted Protein, Acidic, Cysteine-Rich | Congenital malformations, deformations and chromosomal abnormalities | Autosomal, Recessive | |
| Cutis Laxa, Autosomal Recessive, Type IIB | 612940 | Pyrroline-5-Carboxylate Reductase 1 | Congenital malformations, deformations and chromosomal abnormalities | Autosomal, Recessive | |
| Choroideremia | 303100 | CHM RAB Escort Protein | Diseases of the eye and adnexa | X-linked |
| Name | OMIM Number | Related Disease Record | NCBI Gene ID | Protein Name | Uniprot ID | |
|---|---|---|---|---|---|---|
| Zinc Finger Protein 469 | 612078 | Brittle Cornea Syndrome 1 | 84627 | Zinc finger protein 469 | Q96JG9 | |
| Family With Sequence Similarity 161, Member A | 613596 | Retinitis Pigmentosa 28 | 84140 | Protein FAM161A | Q3B820 | |
| Secreted Protein, Acidic, Cysteine-Rich | 182120 | Osteogenesis Imperfecta, Type XVII | 6678 | SPARC | P09486 | |
| Pyrroline-5-Carboxylate Reductase 1 | 179035 | Cutis Laxa, Autosomal Recessive, Type IIB; Cutis Laxa, Autosomal Recessive, Type IIIB | 5831 | Pyrroline-5-carboxylate reductase 1, mitochondrial | P32322 | |
| Retinaldehyde-Binding Protein 1 | 180090 | Fundus Albipunctatus | 6017 | Retinaldehyde-binding protein 1 | P12271 |
| Name | Related Gene Record | dbSNP | Clinvar | Related Disease Record | Clinvar Clinical Significance | CTGA Clinical Significance | |
|---|---|---|---|---|---|---|---|
| NM_001367624.2:c.8901_8914dup | Zinc Finger Protein 469 | Brittle Cornea Syndrome 1 | |||||
| NM_001201543.2:c.685C>T | Family With Sequence Similarity 161, Member A | 528466850 | 35 | Retinitis Pigmentosa 28 | |||
| NM_201253.3:c.1180T>C | Crumbs, Drosophila, Homolog of, 1 | 786205450 | 190990 | Retinitis Pigmentosa 12 | |||
| NM_000350.3:c.1630_1633dup | ATP-Binding Cassette, Subfamily A, Member 4 | 793888523 | 191262 | Retinitis Pigmentosa 19 | |||
| NM_000554.6:c.695del | Cone-Rod Homeobox-Containing Gene | 892091933 | 191298 | Retinitis Pigmentosa |