H19 (H19 imprinted maternally expressed transcript)

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Gene Gene information from NCBI Gene database.
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Entrez ID 283120
Gene name H19 imprinted maternally expressed transcript
Gene symbol H19
Synonyms (NCBI Gene)
ASMASM1BWSD11S813EGMRSPLINC00008MIR675HGNCRNA00008WT2
Chromosome 11
Chromosome location 11p15.5
Summary This gene is located in an imprinted region of chromosome 11 near the insulin-like growth factor 2 (IGF2) gene. This gene is only expressed from the maternally-inherited chromosome, whereas IGF2 is only expressed from the paternally-inherited chromosome.
miRNA miRNA information provided by mirtarbase database.
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miRTarBase ID miRNA Experiments Reference
MIRT732972 hsa-miR-130a-3p Flow cytometryImmunohistochemistry (IHC)Immunoprecipitaion (IP)Luciferase reporter assayqRT-PCRWestern blotting 33324070
MIRT732972 hsa-miR-130a-3p Luciferase reporter assayWestern blottingImmunohistochemistry (IHC)Flow cytometry 33324070
MIRT737540 hsa-miR-22-3p Luciferase reporter assayImmunoprecipitaion (IP)qRT-PCR 31755219
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Transcription factor Regulation Reference
CTCF Unknown 11431321;14654216;16391843;18458536;19209620;19584898;20966046;24725430
DDX5 Unknown 20966046
E2F1 Activation 15985428
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
103280 4713 ENSG00000130600
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
Beckwith-Wiedemann syndrome not provided ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
H19-related disorder Uncertain significance; Likely benign; Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (334)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 8785513, 9811352
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 30747209
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 11889182
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenal Cortical Adenoma Adrenocortical adenoma BEFREE 11889182
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 30238430
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenocortical carcinoma Adrenocortical carcinoma BEFREE 11889182
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 36169175 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenocortical carcinoma Adrenocortical carcinoma HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult type dermatomyositis Dermatomyositis BEFREE 24757153
★★★★★
★☆☆☆☆
Found in Text Mining only
Aggressive Periodontitis Aggressive Periodontitis BEFREE 21665479
★★★★★
★☆☆☆☆
Found in Text Mining only

No strongly related genes found yet for H19.

No additional diseases found yet through genes similar to H19.