Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
105259599
Gene name Gene Name - the full gene name approved by the HGNC.
-
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
H19-ICR
Synonyms (NCBI Gene) Gene synonyms aliases
BWS, H19-DMD, IC1, ICR1, ICR1-DMR, SRS1, WT2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
BWS, SRS1
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p15.5
Summary Summary of gene provided in NCBI Entrez Gene.
This region represents a methylation-sensitive enhancer-blocking element that controls imprinted expression of the non-coding H19 gene and the gene encoding insulin-like growth factor 2 (IGF2). These neighboring genes exist in a head-to-tail arrangement i
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
616186 N/A N/A
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Adrenocortical carcinoma Adrenocortical carcinoma rs121912656, rs28934874, rs121912662, rs786202525, rs121912664, rs397516435, rs121913343, rs587780070, rs121912666, rs55832599, rs587782144, rs587782272, rs587782529, rs587782620, rs587782664
View all (30 more)
Beckwith-wiedemann syndrome Beckwith-Wiedemann Syndrome rs1800171, rs137852766, rs2133780364, rs387906399, rs104894200, rs267606716, rs387907225, rs483352970, rs786205235, rs786205236, rs483352988, rs483352991, rs483352993, rs483352997, rs587777866
View all (45 more)
Cardiomyopathy Cardiomyopathies rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377
View all (900 more)
Congenital hemihypertrophy Congenital hemihypertrophy rs1575653629