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Details of HIBCH gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| HIBCH | --- | Q6NVY1 | HIBCH_HUMAN | 26275
| Q53GF2
| Q53RF7 | 3BPT
3BPT |
Phenotypes
Abnormal axial skeleton morphology, Abnormal facial shape, Abnormality of amino acid metabolism, Abnormality of carboxylic acid metabolism, Abnormality of head and neck, Abnormality of metabolism/homeostasis, Abnormality of skeletal morphology, Abnormality of the cardiovascular system, Abnormality of the central nervous system, Abnormality of the cerebral subcortex, Abnormality of the cerebral white matter, Abnormality of the cerebrum, Abnormality of the corpus callosum, Abnormality of the face, Abnormality of the forebrain, Abnormality of the genitourinary system, Abnormality of the head, Abnormality of the heart, Abnormality of the nervous system, Abnormality of the skeletal system, Abnormality of the urinary system, Abnormality of the urinary system physiology, Abnormality of the vertebral column, Abnormality of urine homeostasis, Aciduria, Agenesis of corpus callosum, All, Aminoaciduria, Aplasia/Hypoplasia involving the central nervous system, Aplasia/Hypoplasia of the cerebrum, Aplasia/Hypoplasia of the corpus callosum, Autosomal recessive inheritance, Conotruncal defect, Dysplastic corpus callosum, Malformation of the heart and great vessels, Mode of inheritance, Morphological abnormality of the central nervous system, Phenotypic abnormality, Tetralogy of Fallot.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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