Property Summary

NCBI Gene PubMed Count 15
PubMed Score 7.08
PubTator Score 9.46

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
BARDET-BIEDL SYNDROME 15 1 0.0 0.0
Orstavik Lindemann Solberg syndrome 1 0.0 0.0
Disease Target Count
Abnormally small eyeball 97
Aortic coarctation 30
Aplasia/Hypoplasia of the iris 10
Atrioventricular Septal Defect 22
Autosomal recessive predisposition 1442
Benign neoplasm of central nervous system 2
Broad hallux 29
Cataract 297
Chorioretinal abnormality 21
Chubby cheeks 50
Cleft Palate 271
Congenital cerebral hernia 21
Congenital hypoplasia of ovary 30
Congenital hypoplasia of penis 176
Corneal diameter decreased 47
Cryptorchidism 296
Decreased size of eyeball 97
Depressed nasal ridge 51
Dull intelligence 645
Electroretinogram abnormal 95
Fibular polydactyly 12
Full cheeks 50
Hamartoma of tongue 4
Heart defect, tongue hamartoma and polysyndactyly 1
Hepatic Fibrosis, Congenital 10
Hyperplasia of cheeks 50
Hypertensive disease 292
Hypertrophy of cheeks 50
Hypogonadism 173
Hypoplastic mandible condyle 275
Hypoplastic ovary 30
Increase in blood pressure 119
Intellectual disability 1016
Lens Opacities 231
Lobar Holoprosencephaly 20
Low intelligence 645
Low-set, posteriorly rotated ears 110
Mandibular hypoplasia 275
Maternal oligohydramnios 31
Meckel-Gruber syndrome 13
Mental Retardation 645
Mental deficiency 645
Microcornea 47
Micrognathism 275
Microphthalmos 100
Multicystic Dysplastic Kidney 52
Nystagmus 317
Obesity 678
Oligohydramnios 52
Optic Atrophy 242
Orbital separation excessive 244
Patent ductus arteriosus 90
Poor school performance 645
Postaxial foot polydactyly 12
Puffy cheeks 50
Retinitis Pigmentosa 226
Sclerocornea 29
Short stature 531
Simple syndactyly of fingers - first web 9
Sloping forehead 46
Small head 374
Subaortic stenosis 9
Talipes 20
Talipes foot deformities 20
Ulnar polydactyly of fingers 47
Uranostaphyloschisis 167
Disease Target Count P-value
ovarian cancer 8520 8.8e-08
tuberculosis 2010 4.2e-07
osteosarcoma 7950 8.7e-06
pancreatic ductal adenocarcinoma liver metastasis 1962 3.2e-03
ependymoma 4679 1.6e-02
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8
Kidney cancer 2613 0.0 0.5

Expression

  Differential Expression (5)

Disease log2 FC p
ependymoma 1.100 1.6e-02
osteosarcoma 1.539 8.7e-06
ovarian cancer -1.100 8.8e-08
pancreatic ductal adenocarcinoma liver m... 1.012 3.2e-03
tuberculosis 1.200 4.2e-07

Gene RIF (4)

AA Sequence

MRREFCWDAYSKAAGSRASSPLPRQDRDSFCHQMSFCLTELHLWSLKNTLHIADRDIGIYQYYDKKDPPA      1 - 70
TEHGNLEKKQKLAESRDYPWTLKNRRPEKLRDSLKELEELMQNSRCVLSKWKNKYVCQLLFGSGVLVSLS     71 - 140
LSGPQLEKVVIDRSLVGKLISDTISDALLTDSFIILSFLAQNKLCFIQFTKKMESSDVNKRLEKLSALDY    141 - 210
KIFYYEIPGPINKTTERHLAINCVHDRVVCWWPLVNDDAWPWAPISSEKDRANLLLLGYAQGRLEVLSSV    211 - 280
RTEWDPLDVRFGTKQPYQVFTVEHSVSVDKEPMADSCIYECIRNKIQCVSVTRIPLKSKAISCCRNVTED    281 - 350
KLILGCEDSSLILYETHRRVTLLAQTELLPSLISCHPSGAILLVGSNQGELQIFDMALSPINIQLLAEDR    351 - 420
LPRETLQFSKLFDASSSLVQMQWIAPQVVSQKGEGSDIYDLLFLRFERGPLGVLLFKLGVFTRGQLGLID    421 - 490
IIFQYIHCDEIYEAINILSSMNWDTLGHQCFISMSAIVNHLLRQKLTPEREAQLETSLGTFYAPTRPLLD    491 - 560
STILEYRDQISKYARRFFHHLLRYQRFEKAFLLAVDVGARDLFMDIHYLALDKGELALAEVARKRASDID    561 - 630
AESITSGVELLGPLDRGDMLNEAFIGLSLAPQGEDSFPDNLPPSCPTHRHILQQRILNGSSNRQIIDRRN    631 - 700
ELEKDICSGFLMTNTCNAEDGELREDGREQEIRDGGSLKMIHFGLV                            701 - 746
//

Text Mined References (19)

PMID Year Title