Version: 8.0.0
Date: Tue Jan 28 2025
3 results
Disease Genes: Sigmar1 (Rno)

post-traumatic stress disorder

Disease
Source: DOID:2055
Definition: An anxiety disorder which results from a traumatic experience that results in psychological trauma.
Genes: Sigmar1 (Rno)

autosomal recessive distal hereditary motor neuronopathy 2

Disease
Source: DOID:0111065
Definition: A spinal muscular atrophy characterized by autosomal recessive inheritance of distal muscle weakness and muscle wasting primarily affecting the upper and lower limbswith onset typically in the first decade of life that has_material_basis_in homozygous mutation in the SIGMAR1 gene on chromosome 9p13.
Genes: Sigmar1 (Rno)

amyotrophic lateral sclerosis type 16

Disease
Source: DOID:0060207
Definition: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SIGMAR1 gene (SETX) on chromosome 9.
Genes: Sigmar1 (Rno)