|
291
|
|
|
Integrator complex subunit 8 |
C8orf52, INT8, NEDCHS |
|
|
292
|
|
|
Isoleucyl-tRNA synthetase 2, mitochondrial |
CAGSSS, ILERS |
Achalasia, Brachydactyly, Cataract, Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, Cerebral cortical atrophy, Developmental dysplasia of the hip, Corpus luteum cyst, Developmental delay, Dwarfism, Esotropia, Hearing loss, Horizontal nystagmus, Isolated somatotropin deficiency, Keratoconjunctivitis sicca, Leigh syndrome, Malocclusion, Microstomia, Motor delay, Necrotizing encephalomyelopathy, Nervous system diseases, Nystagmus, Osteopenia, Ovarian cysts, Peripheral neuropathy, Ptosis, Scoliosis, Adrenal insufficiency, Sensorimotor neuropathy, Sensorineural hearing loss, Sensory neuropathy, Somatotropin deficiency, Spondyloepimetaphyseal dysplasia, Spondyloepiphyseal dysplasiaView all (18 more) |
|
293
|
|
|
IQ motif containing C |
- |
|
|
294
|
|
|
Integrator complex subunit 13 |
ASUN, C12orf11, GCT1, Mat89Bb, NET48, SPATA30 |
|
|
295
|
|
|
Intraflagellar transport 122 |
CED, CED1, CFAP80, FAP80, SPG, WDR10, WDR10p, WDR140 |
Acrocephaly, Anodontia, Aqueductal stenosis, Bicuspid aortic valve, Brachycephaly, Brachydactyly, Camptodactyly of fingers, Ciliary dyskinesia, Clinodactyly, Communicating hydrocephalus, Congenital epicanthus, Congenital hydrocephalus, Congenital pectus excavatum, Cranioectodermal dysplasia, Craniosynostosis, Dental enamel hypoplasia, Diaphyseal dysplasia, Dolichocephaly, Ectodermal dysplasia, Fetal cerebral ventriculomegaly, Frontal bossing, High palate, Hydrocephalus, Hydrocephalus ex-vacuo, Hypodontia, Hypomagnesemia, Kidney disease, Liver cyst, Liver failure, Liver fibrosis, Metopic synostosis, Microdontia, Myopia, Nephritis, Nystagmus, Obstructive hydrocephalus, Osteoporosis, Retinal dystrophy, Rhizomelia, Sagittal craniosynostosis, Scaphocephaly, Short rib-polydactyly syndrome, Syndactyly, Syndactyly of fingers, Synostotic anterior plagiocephaly, Synostotic posterior plagiocephaly, Taurodontism, TrigonocephalyView all (33 more) |
|
296
|
|
|
Innate immunity activator |
C1orf106 |
|
|
297
|
|
|
Interleukin 26 |
AK155, IL-26 |
|
|
298
|
|
|
Inka box actin regulator 2 |
C1orf183, FAM212B |
|
|
299
|
|
|
Inositol polyphosphate-5-phosphatase E |
CORS1, CPD4, JBTS1, MORMS, PPI5PIV, pharbin |
Abnormal spinal segmentation, Agenesis of corpus callosum, Cataract, Cerebellar vermis agenesis, Ciliary dyskinesia, Cirrhosis, Coloboma of optic disc, Congenital cerebral hernia, Congenital clubfoot, Congenital coloboma of iris, Congenital epicanthus, Congenital hepatic fibrosis, Short femur, Developmental delay, Dextrocardia, Eye diseases, Fundus coloboma, Hirschsprung disease, Hydrocephalus, Hypoplasia of spine, Mental retardation, Joubert syndrome, Joubert syndrome with congenital hepatic fibrosis, Joubert syndrome with hepatic defect, Joubert syndrome with ocular defect, Kidney disease, Liver neoplasms, Liver failure, Liver fibrosis, Lung diseases, Macrocephaly, Macroglossia, Malformation of cortical development, Micrognathism, Morm syndrome, Multicystic renal dysplasia, Nystagmus, Obesity, Occipital encephalocele, Oculomotor apraxia, Oculovestibuloauditory syndrome, Oral cleft, Patent ductus arteriosus, Penile diseases, Penis agenesis, Polydactyly, Polydactyly of toes, Polymicrogyria, Portal hypertension, Ptosis, Renal insufficiency, Respiratory failure, Retinal coloboma, Retinal dystrophy, Scoliosis, Situs inversus, Skeletal dysplasia, Sleep apnea, Strabismus, Postaxial hand polydactyly, UranostaphyloschisisView all (46 more) |
|
300
|
|
|
Integrator complex subunit 12 |
INT12, PHF22, SBBI22 |
|
