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Name | OMIM Number | Related Gene Record | WHO-ICD Classification | Mode of Inheritance |
---|---|---|---|---|
Paramyotonia Congenita of Von Eulenburg | 168300 | Sodium Voltage-Gated Channel, Alpha Subunit 4 | Diseases of the nervous system | Autosomal, Dominant |
Cystic Fibrosis | 219700 | Cystic Fibrosis Transmembrane Conductance Regulator | Endocrine, nutritional and metabolic diseases | Autosomal, Recessive |
Prostate Cancer | 176807 | Breast Cancer 1 Gene; BRCA2 Gene; Vitamin D Receptor; Angiotensin I-Converting Enzyme; Cytochrome P450, Family 17, Subfamily A, Polypeptide 1 | Neoplasms | Autosomal, Dominant |
Breast-Ovarian Cancer, Familial, Susceptibility To, 2 | 612555 | BRCA2 Gene | Neoplasms | Autosomal, Dominant |
Breast-Ovarian Cancer, Familial, Susceptibility to, 1 | 604370 | Breast Cancer 1 Gene | Neoplasms | Autosomal, Dominant, Multifactorial |
Name | Related Gene Record | dbSNP | Clinvar | Related Disease Record | Clinvar Clinical Significance | CTGA Clinical Significance |
---|---|---|---|---|---|---|
NM_000334.4:c.4382T>G | Sodium Voltage-Gated Channel, Alpha Subunit 4 | 2144774799 | 1301840 | Paramyotonia Congenita of Von Eulenburg | ||
NM_000492.4:c.4364C>G | Cystic Fibrosis Transmembrane Conductance Regulator | 121909043 | 7223 | Cystic Fibrosis | ||
NM_000059.4:c.3762G>T | BRCA2 Gene | 777028631 | 234481 | Breast-Ovarian Cancer, Familial, Susceptibility To, 2 | ||
NM_000059.4:c.9104A>C | BRCA2 Gene | 80359165 | 38211 | Breast-Ovarian Cancer, Familial, Susceptibility To, 2 | ||
NM_000080.4:c.1314G>C | Cholinergic Receptor, Nicotinic, Epsilon Polypeptide | 772995680 | 2032499 |
Name | OMIM Number | Related Gene Record | WHO-ICD Classification | Mode of Inheritance | |
---|---|---|---|---|---|
Paramyotonia Congenita of Von Eulenburg | 168300 | Sodium Voltage-Gated Channel, Alpha Subunit 4 | Diseases of the nervous system | Autosomal, Dominant | |
Cystic Fibrosis | 219700 | Cystic Fibrosis Transmembrane Conductance Regulator | Endocrine, nutritional and metabolic diseases | Autosomal, Recessive | |
Prostate Cancer | 176807 | Breast Cancer 1 Gene; BRCA2 Gene; Vitamin D Receptor; Angiotensin I-Converting Enzyme; Cytochrome P450, Family 17, Subfamily A, Polypeptide 1 | Neoplasms | Autosomal, Dominant | |
Breast-Ovarian Cancer, Familial, Susceptibility To, 2 | 612555 | BRCA2 Gene | Neoplasms | Autosomal, Dominant | |
Breast-Ovarian Cancer, Familial, Susceptibility to, 1 | 604370 | Breast Cancer 1 Gene | Neoplasms | Autosomal, Dominant, Multifactorial |
Name | Related Gene Record | dbSNP | Clinvar | Related Disease Record | Clinvar Clinical Significance | CTGA Clinical Significance | |
---|---|---|---|---|---|---|---|
NM_000334.4:c.4382T>G | Sodium Voltage-Gated Channel, Alpha Subunit 4 | 2144774799 | 1301840 | Paramyotonia Congenita of Von Eulenburg | |||
NM_000492.4:c.4364C>G | Cystic Fibrosis Transmembrane Conductance Regulator | 121909043 | 7223 | Cystic Fibrosis | |||
NM_000059.4:c.3762G>T | BRCA2 Gene | 777028631 | 234481 | Breast-Ovarian Cancer, Familial, Susceptibility To, 2 | |||
NM_000059.4:c.9104A>C | BRCA2 Gene | 80359165 | 38211 | Breast-Ovarian Cancer, Familial, Susceptibility To, 2 | |||
NM_000080.4:c.1314G>C | Cholinergic Receptor, Nicotinic, Epsilon Polypeptide | 772995680 | 2032499 |