Property Summary

NCBI Gene PubMed Count 36
PubMed Score 116.12
PubTator Score 244.71

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count
Abnormal visual evoked potential 26
Abnormality of metabolism/homeostasis 134
Abnormality of nervous system morphology 2
Acyl-CoA oxidase deficiency 1
Autosomal recessive predisposition 1442
Babinski Reflex 100
Brachycephaly 88
Broad cranium shape 88
Broad flat nasal bridge 236
Central nervous system demyelination 28
Cognitive delay 608
Concave bridge of nose 195
Congenital Epicanthus 177
Death in early childhood 82
Death in infancy 82
Decreased amplitudes on flash visual electroretinogram 13
Deglutition Disorders 132
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Developmental regression 95
Dystonia 164
Dystonic disease 106
Electroencephalogram abnormal 101
Electroretinogram abnormal 95
Elevated hepatic transaminases 81
Epilepsy 792
Failure to gain weight 365
Frontal bossing 157
Gait abnormality 135
Global developmental delay 608
Global developmental delay, severe 47
Hepatic enzyme increased 81
Hepatic steatosis, diffuse 1
Hepatomegaly 285
Hyperreflexia 209
Hypodontia 81
Infantile onset 238
Inversion of nipple (disorder) 7
Irritation - emotion 68
Leukodystrophy 55
Liver Dysfunction 99
Liver carcinoma 240
Liver enzymes abnormal 81
Liver function test increased 81
Liver function tests abnormal finding 81
Loss of developmental milestones 95
Low set ears 181
Mental and motor retardation 608
Mental deterioration in childhood 95
Muscle Hypertonia 88
Muscle hypotonia 571
Myopia 176
Nasal bridge wide 236
Neonatal Hypotonia 64
Neurodevelopmental regression 95
No social interaction 2
Nystagmus 317
Optic Atrophy 242
Orbital separation excessive 244
Pediatric failure to thrive 365
Progressive mental retardation 37
Psychomotor regression 95
Psychomotor regression beginning in infancy 95
Psychomotor regression in infants 95
Psychomotor regression, progressive 95
Respiratory Insufficiency 132
Respiratory function loss 121
Retinitis Pigmentosa 226
Seizures 596
Sensorineural Hearing Loss (disorder) 284
Sensorineural hearing loss, bilateral 18
Severe mental retardation (I.Q. 20-34) 99
Severe psychomotor retardation 47
Speech Disorders 58
Strabismus 270
Subclinical abnormal liver function tests 81
Transaminases increased 81
Wide skull shape 88
Disease Target Count
Pseudoneonatal adrenoleukodystrophy 1

Expression

  Differential Expression (17)

Disease log2 FC p
active ulcerative colitis -1.065 9.2e-03
aldosterone-producing adenoma -1.035 2.3e-02
astrocytoma 1.500 9.2e-04
interstitial cystitis -1.500 6.8e-03
intraductal papillary-mucinous adenoma (... 1.100 6.7e-03
lung cancer 1.200 1.3e-02
malignant mesothelioma -1.100 1.9e-05
medulloblastoma, large-cell -1.100 3.2e-04
osteosarcoma -1.685 1.1e-04
ovarian cancer -1.100 3.1e-04
pancreatic cancer 1.200 2.2e-03
pancreatic carcinoma 1.200 2.2e-03
pancreatic ductal adenocarcinoma liver m... -1.079 1.5e-02
psoriasis 1.400 5.4e-04
Rheumatoid arthritis 1.300 1.4e-02
spina bifida -1.247 1.7e-02
subependymal giant cell astrocytoma 1.422 1.6e-02

 GWAS Trait (1)

Gene RIF (6)

AA Sequence

MNPDLRRERDSASFNPELLTHILDGSPEKTRRRREIENMILNDPDFQHEDLNFLTRSQRYEVAVRKSAIM      1 - 70
VKKMREFGIADPDEIMWFKKLHLVNFVEPVGLNYSMFIPTLLNQGTTAQKEKWLLSSKGLQIIGTYAQTE     71 - 140
MGHGTHLRGLETTATYDPETQEFILNSPTVTSIKWWPGGLGKTSNHAIVLAQLITKGKCYGLHAFIVPIR    141 - 210
EIGTHKPLPGITVGDIGPKFGYDEIDNGYLKMDNHRIPRENMLMKYAQVKPDGTYVKPLSNKLTYGTMVF    211 - 280
VRSFLVGEAARALSKACTIAIRYSAVRHQSEIKPGEPEPQILDFQTQQYKLFPLLATAYAFQFVGAYMKE    281 - 350
TYHRINEGIGQGDLSELPELHALTAGLKAFTSWTANTGIEACRMACGGHGYSHCSGLPNIYVNFTPSCTF    351 - 420
EGENTVMMLQTARFLMKSYDQVHSGKLVCGMVSYLNDLPSQRIQPQQVAVWPTMVDINSPESLTEAYKLR    421 - 490
AARLVEIAAKNLQKEVIHRKSKEVAWNLTSVDLVRASEAHCHYVVVKLFSEKLLKIQDKAIQAVLRSLCL    491 - 560
LYSLYGISQNAGDFLQGSIMTEPQITQVNQRVKELLTLIRSDAVALVDAFDFQDVTLGSVLGRYDGNVYE    561 - 630
NLFEWAKNSPLNKAEVHESYKHLKSLQSKL                                            631 - 660
//

Text Mined References (43)

PMID Year Title