Property Summary

NCBI Gene PubMed Count 31
PubMed Score 47.58
PubTator Score 46.22

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Abnormality of the immune system 18
Absence of pain sensation 5
Absent reflex 92
Absent tendon reflex 92
Acidosis, Lactic 97
Acral ulceration and osteomyelitis leading to autoamputation 4
Autosomal recessive predisposition 1442
Cerebellar Ataxia 304
Cognitive delay 608
Corneal Ulcer 21
Decreased number of large and small myelinated fibers 20
Decreased tendon reflex 122
Diarrhea 253
Distal limb muscle weakness due to peripheral neuropathy 62
Distal muscle weakness 62
Dystonia 164
Dystonic disease 106
Elevated hepatic transaminases 81
Epithelial corneal erosions 12
Failure to gain weight 365
Focal glomerulosclerosis 37
Foot Deformities 30
Global developmental delay 608
Hepatic enzyme increased 81
Hepatomegaly 285
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Hypoglycemia 152
Increased susceptibility to fractures 21
Infantile onset 238
Lactic acidemia 95
Liver Cirrhosis 181
Liver Dysfunction 99
Liver Failure, Acute 29
Liver enzymes abnormal 81
Liver function test increased 81
Liver function tests abnormal finding 81
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 5
Macrovesicular steatosis 4
Mental and motor retardation 608
Microvesicular steatosis (disorder) 6
Muscle hypotonia 571
Neonatal Jaundice 30
Nystagmus 317
Osteomyelitis leading to amputation due to slow healing fractures 1
Painless fractures due to injury 5
Pediatric failure to thrive 365
Peripheral sensorimotor neuropathy 16
Phenotypic variability 150
Progressive disorder 142
Prolonged neonatal jaundice 17
Recurrent erosion of cornea 12
Reflex, Deep Tendon, Absent 92
Reye syndrome-like episodes 1
Short stature 531
Subclinical abnormal liver function tests 81
Transaminases increased 81
Vomiting 116
Disease Target Count Z-score Confidence
Mitochondrial DNA depletion syndrome 6 1 5.58 2.8
Disease Target Count Z-score Confidence
Neuropathy 261 3.187 1.6

Expression

 IMPC Phenotype (1)

Protein-protein Interaction (1)

Gene RIF (18)

AA Sequence

MALWRAYQRALAAHPWKVQVLTAGSLMGLGDIISQQLVERRGLQEHQRGRTLTMVSLGCGFVGPVVGGWY      1 - 70
KVLDRFIPGTTKVDALKKMLLDQGGFAPCFLGCFLPLVGALNGLSAQDNWAKLQRDYPDALITNYYLWPA     71 - 140
VQLANFYLVPLHYRLAVVQCVAVIWNSYLSWKAHRL                                      141 - 176
//

Text Mined References (32)

PMID Year Title