ahi1 Phenotypes

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Phenotypes

Gene Literature (2)

Nucleotides (101)

Interactants (117)

XB-GENEPAGE-5879818

Gene Symbol: ahi1 Gene Name: Abelson helper integration site 1

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (87 sources): Abnormal electroretinogram, Abnormal form of the vertebral bodies, Abnormal pattern of respiration, Abnormal retinal vascular morphology, Abnormal testis morphology, Abnormal vertebral morphology, Abnormality of cardiovascular system morphology, Abnormality of fundus pigmentation, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the hypothalamus-pituitary axis, Aganglionic megacolon, Agenesis of corpus callosum, Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Apnea, Ataxia, Atypical scarring of skin, Biparietal narrowing, Blindness, Cataract, Central apnea, Cerebellar vermis hypoplasia, Cleft palate, Conductive hearing impairment, Constriction of peripheral visual field, Delayed ability to walk, Dextrocardia, Eczema, Elongated superior cerebellar peduncle, Encephalocele, Enlarged fossa interpeduncularis, Epicanthus, Episodic tachypnea, Feeding difficulties, Feeding difficulties in infancy, Foot polydactyly, Gait disturbance, Generalized hypotonia, Glaucoma, Global developmental delay, Hand polydactyly, Highly arched eyebrow, Hydrocephalus, Hyperinsulinemia, Hyperreflexia, Hypogonadism, Hypoplasia of penis, Intellectual disability, Iris coloboma, Keratoconus, Long face, Low-set ears, Low-set, posteriorly rotated ears, Molar tooth sign on MRI, Motor delay, Muscular hypotonia, Neonatal breathing dysregulation, Nephronophthisis, Nyctalopia, Nystagmus, Obesity, Oculomotor apraxia, Open mouth, Ophthalmoplegia, Optic atrophy, Oral cleft, Photophobia, Pigmentary retinopathy, Polymicrogyria, Progressive night blindness, Prominent nasal bridge, Ptosis, Retinal coloboma, Retinal dystrophy, Rod-cone dystrophy, Scoliosis, Seizure, Sensorineural hearing impairment, Situs inversus totalis, Stage 5 chronic kidney disease, Strabismus, Tremor, Type II diabetes mellitus, Visual impairment, Visual loss, Wide nasal bridge [+]
Mouse (28 sources): abnormal basement membrane morphology, abnormal cell morphology, abnormal cerebellar granule layer morphology, abnormal cerebellar hemisphere morphology, abnormal cerebellum vermis morphology, abnormal kidney morphology, abnormal locomotor activation, abnormal locomotor behavior, abnormal response to injury, abnormal retinal apoptosis, abnormal rod electrophysiology, absent photoreceptor outer segment, behavior/neurological phenotype, behavioral despair, decreased body size, decreased brain size, dilated renal tubules, increased circulating creatinine level, nervous system phenotype, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, premature death, reduced cerebellar foliation, retinal photoreceptor degeneration, slow postnatal weight gain, small kidney, thin retinal outer nuclear layer, vision/eye phenotype [+]
View all ortholog results at Monarch