Property Summary

NCBI Gene PubMed Count 45
PubMed Score 171.01
PubTator Score 58.70

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (4)

Disease Target Count
Acquired scoliosis 281
Almond-shaped eyes 23
Animal Mammary Neoplasms 136
Attention deficit hyperactivity disorder 278
Clitoral hypoplasia 11
Cognitive delay 608
Congenital clinodactyly 57
Congenital hypoplasia of penis 176
Curvature of digit 57
Curvature of spine 282
Decreased muscle mass 28
Decreased pain sensation 17
Delayed Puberty 97
Delayed speech and language development 112
Dilated ventricles (finding) 121
Downturned corners of mouth 48
Failure to thrive in infancy 32
Generalized hypopigmentation 12
Generalized hypotonia 37
Global developmental delay 608
Hyperinsulinism 133
Hyperkyphosis 111
Hypernasal voice 39
Hyperopia 70
Hyperphagia 23
Hypogonadism, Isolated Hypogonadotropic 71
Hypogonadotropic hypogonadism 89
Hypoplastic feet 66
Hypoplastic labia minora 10
Hypoventilation 8
Increased appetite (finding) 23
Infertility 188
Isolated cases 72
Isolated somatotropin deficiency 30
Kyphosis deformity of spine 114
Language Delay 112
Long narrow head 75
Mental and motor retardation 608
Motor delay 147
Narrow cranium shape 75
Narrow forehead 34
Narrow hands 6
Narrow head shape 75
Narrow nose 20
Narrow skull shape 75
Nasal voice 39
No development of motor milestones 147
Obesity 678
Obesity, Abdominal 24
Oligomenorrhea 16
Photosensitivity of skin 51
Pinched bridge of nose 14
Pinched nasal bridge 14
Poor gross motor coordination 6
Poor suck 17
Recurrent respiratory infections 141
Reduced fetal movement 51
Respiratory Depression 10
Short hands 50
Short stature 531
Sleep Apnea Syndromes 13
Small hand 36
Specific learning disability 47
Speech Delay 112
Speech impairment 112
Thin upper lip vermilion 67
Turridolichocephaly 75
Disease Target Count Z-score Confidence
Angelman syndrome 34 4.047 2.0

Expression

 OMIM Phenotype (1)

Gene RIF (26)

AA Sequence

MSEQSKDLSDPNFAAEAPNSEVHSSPGVSEGVPPSATLAEPQSPPLGPTAAPQAAPPPQAPNDEGDPKAL      1 - 70
QQAAEEGRAHQAPSAAQPGPAPPAPAQLVQKAHELMWYVLVKDQKKMIIWFPDMVKDVIGSYKKWCRSIL     71 - 140
RRTSLILARVFGLHLRLTSLHTMEFALVKALEPEELDRVALSNRMPMTGLLLMILSLIYVKGRGARESAV    141 - 210
WNVLRILGLRPWKKHSTFGDVRKLITEEFVQMNYLKYQRVPYVEPPEYEFFWGSRASREITKMQIMEFLA    211 - 280
RVFKKDPQAWPSRYREALEEARALREANPTAHYPRSSVSED                                 281 - 321
//

Text Mined References (46)

PMID Year Title