Property Summary

NCBI Gene PubMed Count 12
PubMed Score 3.72
PubTator Score 3.83

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count
Abnormally small eyeball 94
Ambiguous Genitalia 21
Aplasia/Hypoplasia of the iris 10
Apnea 45
Autosomal recessive predisposition 1407
Biparietal narrowing 28
Cataract 290
Cerebellar Ataxia 302
Cerebellar vermis hypoplasia 24
Chorioretinal abnormality 21
Chubby cheeks 49
Cleft Palate 265
Cognitive delay 596
Congenital cerebral hernia 20
Congenital clubfoot 108
Corneal diameter decreased 46
Cryptorchidism 287
Decreased size of eyeball 94
Decreased width of the skull 28
Defective or absent horizontal voluntary eye movements 24
Depressed nasal ridge 48
Dull intelligence 634
Familial aplasia of the vermis 19
Feeding difficulties in infancy 174
Fibular polydactyly 12
Full cheeks 49
Gait abnormality 129
Global developmental delay 596
Hepatic Fibrosis, Congenital 10
Hyperplasia of cheeks 49
Hyperpnea, episodic 7
Hypertrophy of cheeks 49
Hypoplastic mandible condyle 273
Intellectual disability 998
Lens Opacities 227
Lobar Holoprosencephaly 19
Long face 71
Low intelligence 634
Low-set, posteriorly rotated ears 109
Mandibular hypoplasia 273
Maternal oligohydramnios 29
Meckel-Gruber syndrome 13
Mental Retardation 634
Mental and motor retardation 596
Mental deficiency 634
Microcornea 46
Micrognathism 273
Microphthalmos 95
Multicystic Dysplastic Kidney 51
Muscle hypotonia 562
Nystagmus 309
Occipital Encephalocele 10
Oculomotor apraxia 24
Oligohydramnios 50
Optic Atrophy 239
Orbital separation excessive 240
Poor school performance 634
Postaxial foot polydactyly 12
Posterior fossa abnormalities 1
Puffy cheeks 49
Sclerocornea 29
Short extremities 7
Sloping forehead 46
Small head 366
Talipes 20
Talipes foot deformities 20
Ulnar polydactyly of fingers 46
Uranostaphyloschisis 162

Expression

  Differential Expression (7)

Disease log2 FC p
active Crohn's disease 1.059 4.8e-03
active ulcerative colitis 1.073 2.3e-02
astrocytic glioma -1.300 1.0e-02
ependymoma 1.100 6.1e-04
lung cancer 2.000 1.2e-04
medulloblastoma, large-cell -1.100 4.6e-02
nasopharyngeal carcinoma -1.100 2.8e-04

 GO Function (1)

Gene RIF (4)

AA Sequence

MATASPSVFLLMVNGQVESAQFPEYDDLYCKYCFVYGQDWAPTAGLEEGISQITSKSQDVRQALVWNFPI      1 - 70
DVTFKSTNPYGWPQIVLSVYGPDVFGNDVVRGYGAVHVPFSPGRHKRTIPMFVPESTSKLQKFTSWFMGR     71 - 140
RPEYTDPKVVAQGEGREVTRVRSQGFVTLLFNVVTKDMRKLGYDTGPSDTQGVLGPSPPQSFPQ          141 - 204
//

Text Mined References (12)

PMID Year Title