Details of PYCR1 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| PYCR1 | --- | P32322 | P5CR1_HUMAN | 5831
| Q96DI6
| Q9HBQ4 | mitochondrial |
Phenotypes
Abnormal appendicular skeleton morphology, Abnormal axial skeleton morphology, Abnormal elasticity of skin, Abnormal facial shape, Abnormal joint morphology, Abnormal shape of the frontal region, Abnormality of body weight, Abnormality of calvarial morphology, Abnormality of fontanelles, Abnormality of globe location, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of joint mobility, Abnormality of limb bone morphology, Abnormality of pelvic girdle bone morphology, Abnormality of skeletal morphology, Abnormality of skin morphology, Abnormality of skull size, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the calvaria, Abnormality of the central nervous system, Abnormality of the cerebral subcortex, Abnormality of the cerebral ventricles, Abnormality of the cerebral white matter, Abnormality of the cerebrum, Abnormality of the corpus callosum, Abnormality of the curvature of the vertebral column, Abnormality of the ear, Abnormality of the esophagus, Abnormality of the external nose, Abnormality of the eye, Abnormality of the eyelid, Abnormality of the face, Abnormality of the fontanelles and cranial sutures, Abnormality of the forebrain, Abnormality of the forehead, Abnormality of the gastrointestinal tract, Abnormality of the head, Abnormality of the hip bone, Abnormality of the hip joint, Abnormality of the integument, Abnormality of the joints of the lower limbs, Abnormality of the lower limb, Abnormality of the midface, Abnormality of the nasal dorsum, Abnormality of the nervous system, Abnormality of the nose, Abnormality of the ocular region, Abnormality of the orbital region, Abnormality of the outer ear, Abnormality of the palpebral fissures, Abnormality of the periorbital region, Abnormality of the pinna, Abnormality of the sclera, Abnormality of the skeletal system, Abnormality of the skin, Abnormality of the skull, Abnormality of the stomach, Abnormality of the vertebral column, Abnormality of the zygomatic arch, Abnormally lax or hyperextensible skin, Agenesis of corpus callosum, All, Aplasia/Hypoplasia involving the central nervous system, Aplasia/Hypoplasia of the cerebrum, Aplasia/Hypoplasia of the corpus callosum, Autosomal recessive inheritance, Blue sclerae, Cognitive impairment, Congenital hip dislocation, Cutis laxa, Decreased body weight, Deeply set eye, Downslanted palpebral fissures, Dysplastic corpus callosum, Failure to thrive, Frontal bossing, Gastroesophageal reflux, Generalized abnormality of skin, Global developmental delay, Growth abnormality, Growth delay, Hip dislocation, Hydrocephalus, Hypertelorism, Intrauterine growth retardation, Joint dislocation, Joint hypermobility, Large fontanelles, Malar flattening, Microcephaly, Mode of inheritance, Morphological abnormality of the central nervous system, Narrow nasal ridge, Phenotypic abnormality, Prominent ears, Redundant skin, Scoliosis, Slanting of the palpebral fissure, Triangular face.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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