0 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
49PubMed Papers
22Diseases
0Drugs
13Pathogenic Variants
CLINICALOMIM Disease Gene
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nuclear-transcribed mRNA catabolic process, nonsense-mediated decayprotein bindingnegative regulation of apoptotic processidentical protein bindingAutosomal dominant deafness-onychodystrophy syndromeneurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomaliesgenetic disorderGlobal developmental delay
AI summary not yet available. Showing NCBI Gene summary.
SMG9 nonsense mediated mRNA decay factor
⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.
Autosomal dominant deafness-onychodystrophy syndromeOpen Targets
neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomaliesOpen Targets
genetic disorderOpen Targets
Global developmental delayOpen Targets
Abnormal cardiovascular system morphologyOpen Targets
Abnormal facial shapeOpen Targets
autism spectrum disorderOpen Targets
Brainstem dysplasiaOpen Targets
Neurodevelopmental abnormalityOpen Targets
hepatocellular carcinomaOpen Targets
Isolated anencephaly/exencephalyOpen Targets
neural tube defects, folate-sensitiveOpen Targets
Duane-radial ray syndromeOpen Targets
anencephaly 1Open Targets
hemoglobin D diseaseOpen Targets
8q24.3 microdeletion syndromeOpen Targets
PHACE syndromeOpen Targets
Noonan syndromeOpen Targets
Heart and brain malformation syndromeUniProt
Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomaliesUniProt
NM_019108.4(SMG9):c.749dup (p.Asn251fs)Pathogenic
Fetal anomalies with a likely genetic cause
★☆☆☆2026→ Residue 251
NM_019108.4(SMG9):c.909G>T (p.Gln303His)Likely pathogenic
not provided
★☆☆☆2025→ Residue 303
NM_019108.4(SMG9):c.240dup (p.Pro81fs)Pathogenic
Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies
★☆☆☆2025→ Residue 81
NM_019108.4(SMG9):c.441C>A (p.Tyr147Ter)Likely pathogenic
not provided
★☆☆☆2024→ Residue 147
NM_019108.4(SMG9):c.195del (p.Ile66fs)Pathogenic
Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies
★☆☆☆2024→ Residue 66
NM_019108.4(SMG9):c.1426C>T (p.Gln476Ter)Pathogenic
Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies
★☆☆☆2024→ Residue 476
NM_019108.4(SMG9):c.22C>T (p.Gln8Ter)Likely pathogenic
not provided
★☆☆☆2023→ Residue 8
NM_019108.4(SMG9):c.787G>T (p.Glu263Ter)Pathogenic
Inborn genetic diseases
★☆☆☆2021→ Residue 263
NM_019108.4(SMG9):c.610dup (p.Val204fs)Likely pathogenic
not provided
★☆☆☆2020→ Residue 204
NM_019108.4(SMG9):c.520_521del (p.Pro174fs)Likely pathogenic
Heart and brain malformation syndrome|Brainstem dysplasia;Abnormal facial shape;Abnormal cardiovascular system morphology;Global developmental delay
★☆☆☆2013→ Residue 174
NM_019108.4(SMG9):c.1508G>C (p.Trp503Ser)Pathogenic
Heart and brain malformation syndrome
☆☆☆☆2024→ Residue 503
NM_019108.4(SMG9):c.1177C>T (p.Gln393Ter)Pathogenic
Neurodevelopmental abnormality|Heart and brain malformation syndrome
☆☆☆☆2023→ Residue 393
NM_019108.4(SMG9):c.551T>C (p.Val184Ala)Pathogenic
Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies
☆☆☆☆2022→ Residue 184