Property Summary

NCBI Gene PubMed Count 23
PubMed Score 86.14
PubTator Score 79.37

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count
Alopecia 115
Cryptorchidism 296
Abnormal vertebral bodies 16
Abnormality of the ribs 32
Abnormally small eyeball 97
Absent eyebrow 13
Absent eyelashes 16
Acquired scoliosis 281
Agenesis of eyebrows 13
Alopecia totalis 3
Aplasia of eyebrows 13
Aplasia of eyelashes 16
Asymmetry of the posterior cranium 20
Blepharitis 23
Blushing 4
Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia 1
Cellulitis of eyelid 17
Cerebral atrophy 178
Cleft Palate 271
Cloudy cornea 33
Cognitive delay 608
Coloboma of iris 38
Congenital anomaly of spine 16
Congenital deafness 185
Congenital hemivertebra 25
Congenital hypoplasia of kidney 32
Conjunctivitis 53
Conjunctivitis, recurrent 37
Convex nasal ridge 37
Corneal Ulcer 21
Corneal dystrophy 24
Corneal stromal opacities 33
Curvature of spine 282
Deafness 198
Decreased size of eyeball 97
Degenerative brain disorder 100
Dilated ventricles (finding) 121
Dry skin 75
Dull intelligence 645
Dystrophia unguium 53
Dystrophic fingernails 18
Ectodermal Dysplasia 14
Ectropion 38
Epilepsy 792
Epithelial corneal erosions 12
Exfoliative dermatitis 24
Facial erythema 4
Failure of development of eyelashes 16
Fetal Growth Retardation 189
Flattening of cranial vault 20
Flattening of head 20
Global developmental delay 608
Hearing Loss, Partial 185
Hernia, Inguinal 89
Highly variable severity 157
Hirschsprung Disease 31
Hydrocephalus 152
Hypohidrosis 34
Hypoplasia of corpus callosum 90
Hypoplasia of the optic nerve 17
Hypoplastic bladder 3
Infant, Small for Gestational Age 176
Intellectual disability 1016
Intrauterine retardation 176
Keratitis 62
Keratosis pilaris decalvans 3
Liver carcinoma 240
Low intelligence 645
Low set ears 181
Madarosis of eyebrow 13
Maternal oligohydramnios 31
Megacolon 29
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Microphthalmos 100
Multicystic Dysplastic Kidney 52
Multiple vertebral anomalies 16
Nail dysplasia 52
Neonatal Death 14
Oligohydramnios 52
Olivopontocerebellar Atrophies 6
Olmsted syndrome 2
Palmoplantar keratosis 74
Parakeratosis 7
Peeling of skin 8
Perifollicular fibrosis 2
Photodysphoria 121
Photophobia 121
Phrynoderma 11
Plagiocephaly 20
Plagiocephaly, Nonsynostotic 20
Poor school performance 645
Prenatal onset 139
Prominent ear 56
Protruding ears 56
RENAL ADYSPLASIA 25
Recurrent erosion of cornea 12
Renal dysplasia 28
Rhomboid shaped head 20
Rosacea 25
Ruddy face 4
Scarring alopecia of scalp 13
Seizures 596
Severe mental retardation (I.Q. 20-34) 99
Short stature 531
Small head 374
Small testicle 75
Sparse eyebrow 42
Sparse eyelashes 31
Subungual hyperkeratosis 2
Ulnar polydactyly of fingers 47
Umbilical hernia 93
Unilateral agenesis of kidney 20
Unilateral chest hypoplasia 1
Uranostaphyloschisis 167
Variable expressivity 157
Vesico-Ureteral Reflux 33
X- linked recessive 110
Xerosis 75
hearing impairment 199

Expression

  Differential Expression (11)

Disease log2 FC p
atypical teratoid / rhabdoid tumor 1.400 1.9e-04
Gaucher disease type 1 -1.200 8.8e-03
glioblastoma 1.400 1.1e-03
group 3 medulloblastoma 1.200 3.4e-03
lung cancer 1.100 6.5e-03
lung carcinoma 1.100 9.6e-23
medulloblastoma, large-cell 1.900 3.1e-05
nasopharyngeal carcinoma 1.100 6.6e-05
osteosarcoma 1.632 4.0e-04
ovarian cancer -2.100 1.0e-07
pancreatic ductal adenocarcinoma liver m... -1.765 6.8e-03

Protein-protein Interaction (1)

Gene RIF (13)

AA Sequence

MIPVSLVVVVVGGWTVVYLTDLVLKSSVYFKHSYEDWLENNGLSISPFHIRWQTAVFNRAFYSWGRRKAR      1 - 70
MLYQWFNFGMVFGVIAMFSSFFLLGKTLMQTLAQMMADSPSSYSSSSSSSSSSSSSSSSSSSSSSSLHNE     71 - 140
QVLQVVVPGINLPVNQLTYFFTAVLISGVVHEIGHGIAAIREQVRFNGFGIFLFIIYPGAFVDLFTTHLQ    141 - 210
LISPVQQLRIFCAGIWHNFVLALLGILALVLLPVILLPFYYTGVGVLITEVAEDSPAIGPRGLFVGDLVT    211 - 280
HLQDCPVTNVQDWNECLDTIAYEPQIGYCISASTLQQLSFPVRAYKRLDGSTECCNNHSLTDVCFSYRNN    281 - 350
FNKRLHTCLPARKAVEATQVCRTNKDCKKSSSSSFCIIPSLETHTRLIKVKHPPQIDMLYVGHPLHLHYT    351 - 420
VSITSFIPRFNFLSIDLPVVVETFVKYLISLSGALAIVNAVPCFALDGQWILNSFLDATLTSVIGDNDVK    421 - 490
DLIGFFILLGGSVLLAANVTLGLWMVTAR                                             491 - 519
//

Text Mined References (23)

PMID Year Title