Entity rating | Entity | Mode of inheritance | Mode of pathogenicity | Tags |
---|---|---|---|---|
Green | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | N/A | monogenic-polygenic | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | monogenic-polygenic, deletions | |
Green | BIALLELIC, autosomal or pseudoautosomal | Other | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) | N/A | N/A | |
Green | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | N/A | N/A | |
Green | 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 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | missense | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Other | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Other | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | treatable | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | treatable, monogenic-polygenic | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | missense | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | monogenic-polygenic | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | treatable | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | treatable | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | monogenic-polygenic | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | N/A | N/A |