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 97
Ambiguous Genitalia 24
Aplasia/Hypoplasia of the iris 10
Apnea 45
Autosomal recessive predisposition 1442
Biparietal narrowing 28
Cataract 297
Cerebellar Ataxia 304
Cerebellar vermis hypoplasia 24
Chorioretinal abnormality 21
Chubby cheeks 50
Cleft Palate 271
Cognitive delay 608
Congenital cerebral hernia 21
Congenital clubfoot 109
Corneal diameter decreased 47
Cryptorchidism 296
Decreased size of eyeball 97
Decreased width of the skull 28
Defective or absent horizontal voluntary eye movements 25
Depressed nasal ridge 51
Dull intelligence 645
Familial aplasia of the vermis 19
Feeding difficulties in infancy 175
Fibular polydactyly 12
Full cheeks 50
Gait abnormality 135
Global developmental delay 608
Hepatic Fibrosis, Congenital 10
Hyperplasia of cheeks 50
Hyperpnea, episodic 7
Hypertrophy of cheeks 50
Hypoplastic mandible condyle 275
Intellectual disability 1016
Lens Opacities 231
Lobar Holoprosencephaly 20
Long face 71
Low intelligence 645
Low-set, posteriorly rotated ears 110
Mandibular hypoplasia 275
Maternal oligohydramnios 31
Meckel-Gruber syndrome 13
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Microcornea 47
Micrognathism 275
Microphthalmos 100
Multicystic Dysplastic Kidney 52
Muscle hypotonia 571
Nystagmus 317
Occipital Encephalocele 10
Oculomotor apraxia 25
Oligohydramnios 52
Optic Atrophy 242
Orbital separation excessive 244
Poor school performance 645
Postaxial foot polydactyly 12
Posterior fossa abnormalities 1
Puffy cheeks 50
Sclerocornea 29
Short extremities 7
Sloping forehead 46
Small head 374
Talipes 20
Talipes foot deformities 20
Ulnar polydactyly of fingers 47
Uranostaphyloschisis 167

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