Property Summary

NCBI Gene PubMed Count 38
PubMed Score 2023.76
PubTator Score 254.26

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
Autistic Disorder 364 3.175 1.6
Adenylosuccinate lyase deficiency 1 0.0 0.0
Disease Target Count
Epilepsy 792
Intellectual disability 1016
Absent speech 43
Adenylosuccinate lyase deficiency (disorder) 1
Aggressive behavior 75
Aggressive reaction 75
Anteverted nostril 191
Atrophy of cerebellum 103
Autosomal recessive predisposition 1442
Brachycephaly 88
Brain hypomyelination 11
Brisk reflexes 3
Broad cranium shape 88
CNS hypomyelination 17
Cerebellar degeneration 103
Cerebral atrophy 178
Cognitive delay 608
Congenital anomaly of face 56
Degenerative brain disorder 100
Delayed speech and language development 112
Distortion of face 46
Dull intelligence 645
Dysmorphic facies 46
Flat back of the head 26
Flat occiput 26
Funny looking face 46
Gait Ataxia 51
Generalized hypotonia 37
Global developmental delay 608
Global developmental delay, severe 47
Growth delay 114
Growth failure 114
Growth retardation 115
Hyperactive behavior 91
Hypointensity of cerebral white matter on MRI 5
Hypomyelination 17
Inappropriate laughter 4
Infantile onset 238
Infratentorial atrophy 103
Language Delay 112
Long philtrum 137
Low intelligence 645
Low set ears 181
Macrostomia 72
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Muscle hypotonia 571
Myoclonus 74
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
Nystagmus 317
Opisthotonus 14
Physical aggression 76
Poor eye contact 12
Poor growth 114
Poor school performance 645
Prominent metopic ridge 15
Seizures 596
Self Mutilation 14
Severe psychomotor retardation 47
Short nose 132
Skeletal muscle atrophy 139
Small head 374
Small nose 132
Smooth philtrum 43
Speech Delay 112
Speech impairment 112
Strabismus 270
Supratentorial atrophy 94
Thin upper lip vermilion 67
Very poor growth 114
Wide skull shape 88
facial deformity 46
muscle degeneration 139
nonverbal 43
Disease Target Count P-value
group 3 medulloblastoma 4104 5.8e-05
medulloblastoma, large-cell 6241 1.4e-04
psoriasis 6694 3.2e-04
lung cancer 4740 6.0e-04
ovarian cancer 8520 7.1e-04
glioblastoma 5792 5.5e-03
acute myeloid leukemia 783 4.0e-02
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8
Kidney cancer 2613 0.0 0.6
Disease Target Count
Adenylosuccinase Deficiency 1

Expression

  Differential Expression (7)

Disease log2 FC p
psoriasis 1.100 3.2e-04
acute myeloid leukemia -1.300 4.0e-02
glioblastoma 1.200 5.5e-03
group 3 medulloblastoma 1.300 5.8e-05
lung cancer 1.700 6.0e-04
medulloblastoma, large-cell 1.300 1.4e-04
ovarian cancer -1.100 7.1e-04

 GO Component (2)

Gene RIF (16)

AA Sequence

MAAGGDHGSPDSYRSPLASRYASPEMCFVFSDRYKFRTWRQLWLWLAEAEQTLGLPITDEQIQEMKSNLE      1 - 70
NIDFKMAAEEEKRLRHDVMAHVHTFGHCCPKAAGIIHLGATSCYVGDNTDLIILRNALDLLLPKLARVIS     71 - 140
RLADFAKERASLPTLGFTHFQPAQLTTVGKRCCLWIQDLCMDLQNLKRVRDDLRFRGVKGTTGTQASFLQ    141 - 210
LFEGDDHKVEQLDKMVTEKAGFKRAFIITGQTYTRKVDIEVLSVLASLGASVHKICTDIRLLANLKEMEE    211 - 280
PFEKQQIGSSAMPYKRNPMRSERCCSLARHLMTLVMDPLQTASVQWFERTLDDSANRRICLAEAFLTADT    281 - 350
ILNTLQNISEGLVVYPKVIERRIRQELPFMATENIIMAMVKAGGSRQDCHEKIRVLSQQAASVVKQEGGD    351 - 420
NDLIERIQVDAYFSPIHSQLDHLLDPSSFTGRASQQVQRFLEEEVYPLLKPYESVMKVKAELCL          421 - 484
//

Text Mined References (42)

PMID Year Title