Property Summary

Ligand Count 6
NCBI Gene PubMed Count 54
PubMed Score 454.94
PubTator Score 231.18

Knowledge Summary

Patent (86,209)

TINX Plot

  Disease (8)

Disease Target Count
Abnormality of pelvic girdle bone morphology 37
Abnormality of the abdomen 14
Absence of septum pellucidum 13
Absent palmar crease 3
Acquired scoliosis 281
Akinesia 13
Ankylosis of the elbow joint 7
Arthrogryposis 54
Autosomal recessive predisposition 1442
Bell Palsy 58
Blepharophimosis 70
Blepharoptosis 231
Cerebellar Hypoplasia 61
Cleft Palate 271
Concave bridge of nose 195
Congenital Myasthenic Syndromes, Postsynaptic 11
Congenital clubfoot 109
Congenital hypoplasia of lung 48
Cryptorchidism 296
Curvature of spine 282
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Depressed nasal tip 11
Early severe fetal akinesia sequence 11
Easy fatigability 18
Exophthalmos 112
Facial Paresis 59
Facial muscle weakness of muscles innervated by CN VII 58
Fetal Growth Retardation 189
Flexion contracture of proximal interphalangeal joint 75
Generalized amyotrophy 20
Gowers sign 24
Gowers sign present 24
High, narrow palate 32
Hydrocephalus 152
Hypokinesia 19
Hypoplastic mandible condyle 275
Infant, Small for Gestational Age 176
Infantile onset 238
Intrauterine retardation 176
Long philtrum 137
Low Birth Weights 69
Lymphangioma, Cystic 21
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 4
Mandibular hypoplasia 275
Micrognathism 275
Microstomia 78
Muscle hypotonia 571
Neck muscle weakness 17
Neonatal Hypotonia 64
Ophthalmoplegia 106
Orbital separation excessive 244
Pena-Shokeir syndrome type I 12
Persistent cavum septum pellucidum 10
Polyhydramnios 108
Posteriorly rotated ear 61
Premature Birth 77
Premature birth of newborn 67
Prominent eyes 96
Prominent globes 96
Protruding eyes 96
Respiratory Insufficiency 132
Respiratory function loss 121
Short cord 5
Short neck 140
Short palpebral fissure 38
Slender, gracile long tubular bones 21
Small for gestational age (disorder) 69
Small placenta 4
Somnolence 15
Telecanthus 62
Thin rib 21
Thoracic hypoplasia 14
Tires quickly 18
Ulnar deviation of hand 9
Uranostaphyloschisis 167
Vertical Talus 25
Disease Target Count P-value
lung carcinoma 2843 4.8e-15
medulloblastoma, large-cell 6241 4.6e-05
posterior fossa group B ependymoma 416 3.0e-04
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.9
Liver cancer 604 0.0 0.5
Disease Target Count Z-score Confidence
ulcerative colitis 1819 0.0 0.9
Disease Target Count Z-score Confidence
Congenital myasthenic syndrome 25 4.969 2.5
Disease Target Count Z-score Confidence
Lambert-Eaton myasthenic syndrome 12 5.627 2.8
Thymoma 16 5.142 2.6
Ptosis 48 4.619 2.3

Expression

  Differential Expression (3)

Disease log2 FC p
lung carcinoma -1.400 4.8e-15
medulloblastoma, large-cell 1.100 4.6e-05
posterior fossa group B ependymoma 1.500 3.0e-04

Gene RIF (41)

AA Sequence

MRELVNIPLVHILTLVAFSGTEKLPKAPVITTPLETVDALVEEVATFMCAVESYPQPEISWTRNKILIKL      1 - 70
FDTRYSIRENGQLLTILSVEDSDDGIYCCTANNGVGGAVESCGALQVKMKPKITRPPINVKIIEGLKAVL     71 - 140
PCTTMGNPKPSVSWIKGDSPLRENSRIAVLESGSLRIHNVQKEDAGQYRCVAKNSLGTAYSKVVKLEVEV    141 - 210
FARILRAPESHNVTFGSFVTLHCTATGIPVPTITWIENGNAVSSGSIQESVKDRVIDSRLQLFITKPGLY    211 - 280
TCIATNKHGEKFSTAKAAATISIAEWSKPQKDNKGYCAQYRGEVCNAVLAKDALVFLNTSYADPEEAQEL    281 - 350
LVHTAWNELKVVSPVCRPAAEALLCNHIFQECSPGVVPTPIPICREYCLAVKELFCAKEWLVMEEKTHRG    351 - 420
LYRSEMHLLSVPECSKLPSMHWDPTACARLPHLDYNKENLKTFPPMTSSKPSVDIPNLPSSSSSSFSVSP    421 - 490
TYSMTVIISIMSSFAIFVLLTITTLYCCRRRKQWKNKKRESAAVTLTTLPSELLLDRLHPNPMYQRMPLL    491 - 560
LNPKLLSLEYPRNNIEYVRDIGEGAFGRVFQARAPGLLPYEPFTMVAVKMLKEEASADMQADFQREAALM    561 - 630
AEFDNPNIVKLLGVCAVGKPMCLLFEYMAYGDLNEFLRSMSPHTVCSLSHSDLSMRAQVSSPGPPPLSCA    631 - 700
EQLCIARQVAAGMAYLSERKFVHRDLATRNCLVGENMVVKIADFGLSRNIYSADYYKANENDAIPIRWMP    701 - 770
PESIFYNRYTTESDVWAYGVVLWEIFSYGLQPYYGMAHEEVIYYVRDGNILSCPENCPVELYNLMRLCWS    771 - 840
KLPADRPSFTSIHRILERMCERAEGTVSV                                             841 - 869
//

Text Mined References (59)

PMID Year Title