Property Summary

NCBI Gene PubMed Count 10
PubMed Score 83.85
PubTator Score 16.61

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count Z-score Confidence
Prader-Willi syndrome 48 6.407 3.2
Autistic Disorder 364 3.318 1.7
Disease Target Count
Obesity 678
Acquired scoliosis 281
Almond-shaped eyes 23
Attention deficit hyperactivity disorder 278
Clitoral hypoplasia 11
Coarse facial features 108
Cognitive delay 608
Congenital clinodactyly 57
Congenital hypoplasia of penis 176
Constipation 181
Contracture 96
Contracture of joint 93
Cryptorchidism 296
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
Dull intelligence 645
Dyschezia 135
Esotropia 31
Failure to thrive in infancy 32
Feeding difficulties 127
Flexion contracture 93
Flexion contractures of joints 93
Generalized hypopigmentation 12
Generalized hypotonia 37
Global developmental delay 608
Hyperinsulinism 133
Hyperkyphosis 111
Hypernasal voice 39
Hyperopia 70
Hyperphagia 23
Hypogonadism 173
Hypogonadism, Isolated Hypogonadotropic 71
Hypogonadotropic hypogonadism 89
Hypoplastic feet 66
Hypoplastic labia minora 10
Hypoventilation 8
Increased appetite (finding) 23
Infantile onset 238
Infertility 188
Intellectual disability 1016
Isolated cases 72
Isolated somatotropin deficiency 30
Kyphosis deformity of spine 114
Language Delay 112
Long narrow head 75
Low intelligence 645
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Mood Disorders 184
Motor delay 147
Myopia 176
Narrow cranium shape 75
Narrow forehead 34
Narrow hands 6
Narrow head shape 75
Narrow nose 20
Narrow skull shape 75
Nasal voice 39
Neonatal Hypotonia 64
No development of motor milestones 147
Obesity, Abdominal 24
Oligomenorrhea 16
Open mouth 45
Photosensitivity of skin 51
Pinched bridge of nose 14
Pinched nasal bridge 14
Poor gross motor coordination 6
Poor school performance 645
Poor suck 17
Recurrent respiratory infections 141
Reduced fetal movement 51
Respiratory Depression 10
SCHAAF-YANG SYNDROME 1
Schizophrenia 1160
Short hands 50
Short stature 531
Sleep Apnea Syndromes 13
Small hand 36
Specific learning disability 47
Speech Delay 112
Speech impairment 112
Thickened facial skin with coarse facial features 108
Thin upper lip vermilion 67
Turridolichocephaly 75
Disease Target Count Z-score Confidence
Angelman syndrome 34 4.19 2.1
Pain agnosia 104 3.417 1.7
Distal arthrogryposis 42 3.14 1.6

Expression

  Differential Expression (5)

Disease log2 FC p
adrenocortical carcinoma 1.695 2.3e-02
facioscapulohumeral dystrophy 1.900 6.5e-03
pituitary cancer -1.800 7.1e-03
posterior fossa group A ependymoma -1.200 6.7e-05
psoriasis -1.200 2.2e-20

Gene RIF (8)

AA Sequence

MSQLSKNLGDSSPPAEAPKPPVYSRPTVLMRAPPASSRAPPVPWDPPPIDLQASLAAWQAPQPAWEAPQG      1 - 70
QLPAPVVPMTQPPALGGPIVPAPPLGGPMGKPPTPGVLMVHPPPPGAPMAQPPTPGVLMVHPSAPGAPMA     71 - 140
HPPPPGTPMSHPPPPGTPMAHPPPPGTPMAHPPPPGTPMVHPPPPGTPMAHPPPPGTPMAHPPPPGTPMA    141 - 210
HPPPPGTPMAHPPPPGTPMAQPPAPGVLMAQPLTPGVLMVQPAAPGAPMVQPPPAAMMTQPQPSGAPMAK    211 - 280
PPGPGVLMIHPPGARAPMTQPPASGAPMAQPAAPPAQPMAPPAQPMASWAPQAQPLILQIQSQVIRAPPQ    281 - 350
VPQGPQAPPAQLATPPGWQATSPGWQATQQGWQATPLTWQTTQVTWQAPAVTWQVPPPMRQGPPPIRPGP    351 - 420
PPIRPGPPPVRQAPPLIRQAPPVIRQAPPVIRQAPPVIRQAPAVIRQAPPVIRQAPPVIRQAPPVIRQAP    421 - 490
PLIRQAPPPIRPAPQVLATQPPLWQALPPPPPLRQAPQARLPAPQVQAAPQVPTAPPATQVPAAPPAGPQ    491 - 560
VPQPVLPAPLSAPLSAPQAVHCPSIIWQAPKGQPPVPHEIPTSMEFQEVQQTQALAWQAQKAPTHIWQPL    561 - 630
PAQEAQRQAPPLVQLEQPFQGAPPSQKAVQIQLPPQQAQASGPQAEVPTLPLQPSWQAPPAVLQAQPGPP    631 - 700
VAAANFPLGSAKSLMTPSGECRASSIDRRGSSKERRTSSKERRAPSKDRMIFAATFCAPKAVSAARAHLP    701 - 770
AAWKNLPATPETFAPSSSVFPATSQFQPASLNAFKGPSAASETPKSLPYALQDPFACVEALPAVPWVPQP    771 - 840
NMNASKASQAVPTFLMATAAAPQATATTQEASKTSVEPPRRSGKATRKKKHLEAQEDSRGHTLAFHDWQG    841 - 910
PRPWENLNLSDWEVQSPIQVSGDWEHPNTPRGLSGWEGPSTSRILSGWEGPSASWALSAWEGPSTSRALG    911 - 980
LSESPGSSLPVVVSEVASVSPGSSATQDNSKVEAQPLSPLDERANALVQFLLVKDQAKVPVQRSEMVKVI    981 - 1050
LREYKDECLDIINRANNKLECAFGYQLKEIDTKNHAYIIINKLGYHTGNLVASYLDRPKFGLLMVVLSLI   1051 - 1120
FMKGNCVREDLIFNFLFKLGLDVRETNGLFGNTKKLITEVFVRQKYLEYRRIPYTEPAEYEFLWGPRAFL   1121 - 1190
ETSKMLVLRFLAKLHKKDPQSWPFHYLEALAECEWEDTDEDEPDTGDSAHGPTSRPPPR              1191 - 1249
//

Text Mined References (12)

PMID Year Title