H19
Chr 11p15.5H19 imprinted maternally expressed transcript
- Aliases:
- D11S813E, ASM, ASM1, NCRNA00008, LINC00008
- MANE:
- ENST00000414790.11
Annotations refreshed 9 hours ago.
Predicted protein structure
No predicted 3D structure for H19. Non-coding genes and pseudogenes typically have no protein product.
Clinical relevance (Genomics England PanelApp)
Moderate Evidence (Amber)
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)Childhood solid tumours
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIUGR and IGF abnormalities
Other - please specifiy in evaluation commentsMonogenic short stature
OtherSilver Russell syndrome
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Disease associations (Open Targets)
isolated hemihyperplasia
0.37Hemihypertrophy
0.37central nervous system cancer
0.13hepatocellular carcinoma
0.13obesity due to melanocortin 4 receptor deficiency
0.12breast carcinoma
0.12breast cancer
0.12gastric cancer
0.12neoplasm
0.12glioblastoma
0.12
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Diseases associated with H19
Curated MONDO disease pages that list H19 among their top associated genes.