ENSG00000163703
Homo sapiens | |
Features
| Gene ID: | ENSG00000163703 | | | | | Biological name : | CRELD1 | | | | | Synonyms : | CRELD1 / cysteine rich with EGF like domains 1 / Q96HD1 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 3 | | Strand: | 1 | | Band: | p25.3 | | Gene start: | 9933822 | | Gene end: | 9945413 | | | | | Corresponding Affymetrix probe sets: | 203368_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000411021
Ensembl peptide - ENSP00000393643
Ensembl peptide - ENSP00000406556
Ensembl peptide - ENSP00000321856
Ensembl peptide - ENSP00000373322
Ensembl peptide - ENSP00000380355
NCBI entrez gene - 78987
See in Manteia.
OMIM - 607170
RefSeq - XM_017007175
RefSeq - NM_001031717
RefSeq - NM_001077415
RefSeq - NM_015513
RefSeq - XM_011534108
RefSeq Peptide - NP_001026887
RefSeq Peptide - NP_001070883
RefSeq Peptide - NP_056328
swissprot - H7C2L3
swissprot - Q96HD1
swissprot - F8WBY3
Ensembl - ENSG00000163703
| | | | | Related genetic diseases (OMIM): | 606217 - Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
Gene Ontology (GO)
Pathways (from Reactome)
No match
Phenotype (from MGI, Zfin or HPO)
| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| | HP:0001425 | Heterogeneous | |
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| | HP:0001651 | Dextrocardia | "A left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side in stead of the left." [HPO:sdoelken] |
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| | HP:0002627 | Right aortic arch | |
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| | HP:0003829 | Incomplete penetrance | |
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| | HP:0004935 | Pulmonary artery atresia | |
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| | HP:0006695 | Tricuspid and mitral valves are replaced by a single inlet valve | |
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Interacting proteins (from Reactome)
No match
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