Version: 8.0.0Date: Tue Jan 28 2025
Disease Genes: SMARCA4 (Hsa)
Disease
Source: DOID:1612
Definition: An organ system cancer that originates in the mammary gland.
Genes: SMARCA4 (Hsa)
Disease
Source: DOID:162
Definition: A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.
Genes: SMARCA4 (Hsa)
Disease
Source: DOID:10283
Definition: A male reproductive organ cancer that is located_in the prostate.
Genes: SMARCA4 (Hsa)
Disease
Source: DOID:684
Definition: A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.
Genes: SMARCA4 (Hsa)
Source: DOID:3908
Definition: A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.
Genes: SMARCA4 (Hsa)
Disease
Source: DOID:1574
Definition: A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.
Genes: SMARCA4 (Hsa)
Disease
Source: DOID:0070046
Definition: A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCA4 gene on chromosome 19p13.2.
Genes: SMARCA4 (Hsa)
Source: DOID:0081441
Definition: A syndrome that is characterized by severely impaired intellectual development, early-onset seizures, short stature, dysmorphic facial features, and sparse hair and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24.
Genes: SMARCA4 (Hsa)
Source: DOID:0060997
Definition: A rhabdoid tumor predisposition syndrome that has_material_basis_in heterozygous germline mutation in the SMARCA4 gene on chromosome 19p13.
Genes: SMARCA4 (Hsa)
Source: DOID:0050340
Definition: A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised.
Genes: SMARCA4 (Hsa)