Entity rating | Entity | Mode of inheritance | Mode of pathogenicity | Tags |
---|---|---|---|---|
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Skeletal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal ciliopathies | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Ophthalmological ciliopathies | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Neurological ciliopathies | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Renal ciliopathies | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name, watchlist |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Skeletal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Skeletal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies 2q13 recurrent region (includes NPHP1) Loss region | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies 17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Ophthalmological ciliopathies | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Neurological ciliopathies | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal ciliopathies | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Skeletal ciliopathies | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Skeletal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | watchlist_moi |
Green | Skeletal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Ophthalmological ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Skeletal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Renal ciliopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Neurological ciliopathies | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Other | N/A |
Green | Skeletal ciliopathies | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Other | N/A |