p4htm Phenotypes

XB-GENEPAGE-950281

Gene Symbol: p4htm Gene Name: prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)

Expression Phenotypes Gene expression phenotype annotations where the gene of interest has been disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1, FDR <= 0.05 and an absolute LogFC >= 2.
Computed annotations: p4htm assayed (1 source)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (37 sources): Abnormality of eye movement, Abnormality of temperature regulation, Amblyopia, Astigmatism, Cerebral visual impairment, Coarse facial features, Constipation, Delayed ability to walk, Depressed nasal bridge, EEG abnormality, Elbow flexion contracture, Exotropia, Fever, Finger joint hypermobility, Generalized hypotonia, Global developmental delay, Hypermetropia, Hypothermia, Hypoventilation, Inability to walk, Intellectual disability, Kyphosis, Mandibular prognathia, Microcephaly, Myopia, Obesity, Optic atrophy, Pendular nystagmus, Prominent forehead, Recurrent pneumonia, Scoliosis, Seizure, Short stature, Sleep apnea, Strabismus, Thick vermilion border, Unsteady gait [+]
View all ortholog results at Monarch

Monarch Ortholog Phenotypes

These phenotypes are associated with this gene with a has phenotype relation via Monarch.

Human (37 sources): Abnormality of eye movement, Abnormality of temperature regulation, Amblyopia, Astigmatism, Cerebral visual impairment, Coarse facial features, Constipation, Delayed ability to walk, Depressed nasal bridge, EEG abnormality, [+]