sterile alpha motif domain containing 9
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Congenital adrenal hypoplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownCOVID-19 research
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownCytopenia - NOT Fanconi anaemia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownCytopenias and congenital anaemias
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDifferences in sex development
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownGastrointestinal epithelial barrier disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown+12 more panels — install the extension to see the full list inline on any page.
MIRAGE syndrome
normophosphatemic familial tumoral calcinosis
monosomy 7 myelodysplasia and leukemia syndrome 2
familial tumoral calcinosis
hereditary disease
Bone marrow hypocellularity
Inherited cancer-predisposing syndrome
hereditary neoplastic syndrome
neurodegenerative disease
myelodysplastic syndrome
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Sterile alpha motif domain-containing protein 9
Double-stranded nucleic acid binding that acts as an antiviral factor by playing an essential role in the formation of cytoplasmic antiviral granules (PubMed:25428864, PubMed:28157624). May play a role in the inflammatory response to tissue injury and the control of extra-osseous calcification, acting as a downstream target of TNF signaling. Involved in the regulation of EGR1, in coordination with RGL2. May be involved in endosome fusion
SAMD9 · Q5K651
Mean pLDDT
83.6/ 100
Confident
1,589 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
