Property Summary

NCBI Gene PubMed Count 42
PubMed Score 1408.21
PubTator Score 334.00

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
3-Phosphoglycerate dehydrogenase deficiency 1
Ablepharon 1
Abnormally small eyeball 97
Absent eyelashes 16
Adducted thumb 22
Agenesis of corpus callosum 83
Agyria 15
Anemia, Megaloblastic 16
Aplasia of eyelashes 16
Aplasia of the eyelids 1
Autosomal recessive predisposition 1442
Bifid uterus 4
Calcaneovalgus deformity 8
Cataract 297
Cerebellar Hypoplasia 61
Choroid plexus cyst 2
Cleft Lip 141
Cleft Palate 271
Congenital Bilateral Cataracts 50
Congenital Camptodactyly 40
Congenital absence of kidney 31
Congenital cataract 50
Congenital clinodactyly 57
Congenital hypoplasia of lung 48
Congenital microcephaly 2
Contracture of joint of hand 30
Cryptorchidism 296
Curvature of digit 57
Dandy-Walker Syndrome 39
Decreased platelet count 111
Decreased size of eyeball 97
Discordant ventriculoarterial connection 17
Dull intelligence 645
Dysmyelination of the brain 6
Edema, generalized 2
Epilepsy 792
Exophthalmos 112
Failure of development of eyelashes 16
Fetal Growth Retardation 189
Foramen Ovale, Patent 10
Full lower lip 64
Growth delay 114
Growth failure 114
Growth retardation 115
Head circumference small for gestational age 2
Hydranencephaly 11
Hypoplastic mandible condyle 275
Hypsarrhythmia 25
Infant, Small for Gestational Age 176
Intellectual disability 1016
Intrauterine retardation 176
Large auricle 87
Large dysplastic ears 87
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Lens Opacities 231
Lissencephaly 69
Low intelligence 645
Macrotia 87
Mammary Neoplasms 425
Mandibular hypoplasia 275
Mental Retardation 645
Mental deficiency 645
Micrognathism 275
Micromelia 58
Microphthalmos 100
Neoplastic Cell Transformation 89
Neu-Laxova syndrome 2
Nystagmus 317
Orbital separation excessive 244
Patent ductus arteriosus 90
Polyhydramnios 108
Poor growth 114
Poor school performance 645
Prominent eyes 96
Prominent globes 96
Prominent lower lip 64
Protruding eyes 96
Radially deviated fingers 38
Reduced fetal movement 51
Seizures 596
Short cord 5
Short neck 140
Sloping forehead 46
Small head 374
Small placenta 4
Small testicle 75
Spastic Quadriplegia 42
Stillbirth 17
Syndactyly of fingers 48
Syndactyly of the toes 45
Thrombocytopenia 197
Uranostaphyloschisis 167
Ventricular Septal Defects 119
Vertical Talus 25
Very poor growth 114
White matter dysmyelination/demyelination 6
Yellow subcutaneous tissue covered by thin, scaly skin 1
non-small cell lung carcinoma 317
pterygium 76
spina bifida 1074
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6
Disease Target Count Z-score Confidence
PHGDH deficiency 1 0.0 5.0
Disease Target Count
Neu-Laxova syndrome 1 2

Expression

  Differential Expression (14)

Gene RIF (24)

AA Sequence

MAFANLRKVLISDSLDPCCRKILQDGGLQVVEKQNLSKEELIAELQDCEGLIVRSATKVTADVINAAEKL      1 - 70
QVVGRAGTGVDNVDLEAATRKGILVMNTPNGNSLSAAELTCGMIMCLARQIPQATASMKDGKWERKKFMG     71 - 140
TELNGKTLGILGLGRIGREVATRMQSFGMKTIGYDPIISPEVSASFGVQQLPLEEIWPLCDFITVHTPLL    141 - 210
PSTTGLLNDNTFAQCKKGVRVVNCARGGIVDEGALLRALQSGQCAGAALDVFTEEPPRDRALVDHENVIS    211 - 280
CPHLGASTKEAQSRCGEEIAVQFVDMVKGKSLTGVVNAQALTSAFSPHTKPWIGLAEALGTLMRAWAGSP    281 - 350
KGTIQVITQGTSLKNAGNCLSPAVIVGLLKEASKQADVNLVNAKLLVKEAGLNVTTSHSPAAPGEQGFGE    351 - 420
CLLAVALAGAPYQAVGLVQGTTPVLQGLNGAVFRPEVPLRRDLPLLLFRTQTSDPAMLPTMIGLLAEAGV    421 - 490
RLLSYQTSLVSDGETWHVMGISSLLPSLEAWKQHVTEAFQFHF                               491 - 533
//

Text Mined References (52)

PMID Year Title