Property Summary

NCBI Gene PubMed Count 146
PubMed Score 491.96
PubTator Score 322.16

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Abnormally small eyeball 97
Arnold-Chiari Malformation, Type I 5
Atresia of vagina 10
Autosomal recessive predisposition 1442
Bicornuate uterus 11
Bilateral renal hypoplasia 1
Chorioretinal atrophy 11
Chronic kidney disease stage 5 31
Coloboma of optic disc 9
Congenital absence of kidney 31
Congenital clubfoot 109
Congenital hypoplasia of kidney 32
Congenital hypoplasia of lung 48
Decreased size of eyeball 97
Dull intelligence 645
Epilepsy 792
Focal glomerulosclerosis 37
Foot Deformities 30
Fundus coloboma 18
Gliosis 56
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Highly variable severity 157
Hypertensive disease 292
Increase in blood pressure 119
Infantile onset 238
Intellectual disability 1016
Joint laxity 54
Kidney Failure 111
Low Vision 174
Low intelligence 645
Low set ears 181
Maternal oligohydramnios 31
Mental Retardation 645
Mental deficiency 645
Microphthalmos 100
Multicystic Dysplastic Kidney 52
Myopia 176
Nephrotic Syndrome 78
Oligohydramnios 52
Optic nerve dysplasia 6
Orbital cyst 8
Orbital separation excessive 244
Phenotypic variability 150
Poor school performance 645
Potter's facies 10
Prenatal onset 139
Primary physiologic amenorrhea 55
Proteinuria 144
RENAL ADYSPLASIA 25
Renal Insufficiency 90
Renal dysplasia 28
Renal failure in adulthood 76
Retrognathia 54
Seizures 596
Sensorineural Hearing Loss (disorder) 284
Skin hyperelastic 32
Soft skin 17
Variable expressivity 157
Velvety skin 17
Vesico-Ureteral Reflux 33
Visual Impairment 174
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6
Disease Target Count Z-score Confidence
Alzheimer's disease 658 0.0 0.9
Disease Target Count Z-score Confidence
Renal coloboma syndrome 4 7.498 3.7

Expression

Gene RIF (109)

AA Sequence

MDMHCKADPFSAMHPGHGGVNQLGGVFVNGRPLPDVVRQRIVELAHQGVRPCDISRQLRVSHGCVSKILG      1 - 70
RYYETGSIKPGVIGGSKPKVATPKVVDKIAEYKRQNPTMFAWEIRDRLLAEGICDNDTVPSVSSINRIIR     71 - 140
TKVQQPFHPTPDGAGTGVTAPGHTIVPSTASPPVSSASNDPVGSYSINGILGIPRSNGEKRKRDEVEVYT    141 - 210
DPAHIRGGGGLHLVWTLRDVSEGSVPNGDSQSGVDSLRKHLRADTFTQQQLEALDRVFERPSYPDVFQAS    211 - 280
EHIKSEQGNEYSLPALTPGLDEVKSSLSASTNPELGSNVSGTQTYPVVTGRDMASTTLPGYPPHVPPTGQ    281 - 350
GSYPTSTLAGMVPGSEFSGNPYSHPQYTAYNEAWRFSNPALLSSPYYYSAAPRGSAPAAAAAAYDRH       351 - 417
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Text Mined References (148)

PMID Year Title