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 47 6.407 3.2
Autistic Disorder 358 3.318 1.7
Disease Target Count
Obesity 655
Acquired scoliosis 274
Almond-shaped eyes 23
Attention deficit hyperactivity disorder 272
Clitoral hypoplasia 11
Coarse facial features 103
Cognitive delay 596
Congenital clinodactyly 57
Congenital hypoplasia of penis 168
Constipation 174
Contracture 95
Contracture of joint 92
Cryptorchidism 287
Curvature of digit 57
Curvature of spine 275
Decreased muscle mass 26
Decreased pain sensation 17
Delayed Puberty 94
Delayed speech and language development 110
Dilated ventricles (finding) 119
Downturned corners of mouth 47
Dull intelligence 634
Dyschezia 129
Esotropia 31
Failure to thrive in infancy 32
Feeding difficulties 127
Flexion contracture 92
Flexion contractures of joints 92
Generalized hypopigmentation 12
Generalized hypotonia 37
Global developmental delay 596
Hyperinsulinism 128
Hyperkyphosis 109
Hypernasal voice 39
Hyperopia 68
Hyperphagia 22
Hypogonadism 169
Hypogonadism, Isolated Hypogonadotropic 64
Hypogonadotropic hypogonadism 82
Hypoplastic feet 66
Hypoplastic labia minora 10
Hypoventilation 8
Increased appetite (finding) 22
Infantile onset 236
Infertility 176
Intellectual disability 998
Isolated cases 70
Isolated somatotropin deficiency 28
Kyphosis deformity of spine 112
Language Delay 110
Long narrow head 75
Low intelligence 634
Mental Retardation 634
Mental and motor retardation 596
Mental deficiency 634
Mood Disorders 181
Motor delay 144
Myopia 175
Narrow cranium shape 75
Narrow forehead 34
Narrow hands 6
Narrow head shape 75
Narrow nose 19
Narrow skull shape 75
Nasal voice 39
Neonatal Hypotonia 64
No development of motor milestones 144
Obesity, Abdominal 23
Oligomenorrhea 16
Open mouth 44
Photosensitivity of skin 51
Pinched bridge of nose 13
Pinched nasal bridge 13
Poor gross motor coordination 6
Poor school performance 634
Poor suck 17
Recurrent respiratory infections 138
Reduced fetal movement 51
Respiratory Depression 10
SCHAAF-YANG SYNDROME 1
Schizophrenia 1136
Short hands 50
Short stature 514
Sleep Apnea Syndromes 13
Small hand 36
Specific learning disability 46
Speech Delay 110
Speech impairment 110
Thickened facial skin with coarse facial features 103
Thin upper lip vermilion 67
Turridolichocephaly 75
Disease Target Count Z-score Confidence
Angelman syndrome 32 4.19 2.1
Pain agnosia 99 3.417 1.7
Distal arthrogryposis 41 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