Property Summary

Ligand Count 3
NCBI Gene PubMed Count 87
PubMed Score 963.83
PubTator Score 444.58

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Abnormality of metabolism/homeostasis 134
Abnormality of retinal pigmentation 111
Abnormality of the fingernails 51
Abnormality of the hip bone 16
Anemia 365
Arachnodactyly 49
Asthma 385
Autosomal recessive predisposition 1442
Bilateral single transverse palmar creases 34
Blepharoptosis 231
Bulging forehead 66
Chronic lung disease 6
Cognitive delay 608
Concave bridge of nose 195
Congenital anomaly of face 56
Congenital deafness 185
Convex nasal ridge 37
Crusting erythematous dermatitis 1
Deafness 198
Decreased platelet count 111
Deficiency of prolidase 1
Dental caries 164
Depressed nasal bridge 195
Depressed nasal ridge 51
Depressed nasal root/bridge 195
Diabetes Mellitus, Non-Insulin-Dependent 145
Diffuse telangiectasis 1
Distortion of face 46
Dry skin 75
Dysmorphic facies 46
Erythema 58
Exophthalmos 112
Flushing 60
Funny looking face 46
Generalized hirsutism 36
Global developmental delay 608
Hearing Loss, Partial 185
Hemoglobin low 124
Hypoplastic mandible condyle 275
Infectious disease of lung 29
Knee joint valgus deformity 56
Low Vision 174
Low anterior hairline 30
Low posterior hairline 52
Lupus Erythematosus, Systemic 67
Mandibular hypoplasia 275
Mental and motor retardation 608
Micrognathism 275
Middle ear abnormalities 2
Multiple pulmonary infections 29
Neonatal Jaundice 30
Orbital separation excessive 244
Palmoplantar keratosis 74
Papule 43
Petechiae 13
Photosensitivity of skin 51
Prolonged neonatal jaundice 17
Prominent eyes 96
Prominent forehead 66
Prominent globes 96
Protruding eyes 96
Pruritus 58
Reactive airway disease 21
Recurrent pneumonia 29
Recurrent pulmonary infections 29
Recurrent respiratory infections 141
Retinal pigment epithelial abnormality 111
Rotting teeth 73
Short nose 132
Small nose 132
Thin skin 47
Thrombocytopenia 197
Visual Impairment 174
White forelock 12
Xerosis 75
facial deformity 46
hearing impairment 199
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.7
Disease Target Count Z-score Confidence
Acquired metabolic disease 336 0.0 2.7
Type 2 diabetes mellitus 272 0.0 3.0

Expression

  Differential Expression (8)

Disease log2 FC p
astrocytoma 1.300 3.5e-03
diabetes mellitus -1.100 1.5e-03
glioblastoma 1.100 3.1e-02
intraductal papillary-mucinous carcinoma... -1.600 8.7e-04
intraductal papillary-mucinous neoplasm ... -1.300 6.4e-03
ovarian cancer -1.100 8.7e-04
pancreatic ductal adenocarcinoma liver m... -2.162 5.1e-03
tuberculosis 1.500 2.2e-08

 OMIM Phenotype (1)

Gene RIF (57)

AA Sequence

MAAATGPSFWLGNETLKVPLALFALNRQRLCERLRKNPAVQAGSIVVLQGGEETQRYCTDTGVLFRQESF      1 - 70
FHWAFGVTEPGCYGVIDVDTGKSTLFVPRLPASHATWMGKIHSKEHFKEKYAVDDVQYVDEIASVLTSQK     71 - 140
PSVLLTLRGVNTDSGSVCREASFDGISKFEVNNTILHPEIVECRVFKTDMELEVLRYTNKISSEAHREVM    141 - 210
KAVKVGMKEYELESLFEHYCYSRGGMRHSSYTCICGSGENSAVLHYGHAGAPNDRTIQNGDMCLFDMGGE    211 - 280
YYCFASDITCSFPANGKFTADQKAVYEAVLRSSRAVMGAMKPGVWWPDMHRLADRIHLEELAHMGILSGS    281 - 350
VDAMVQAHLGAVFMPHGLGHFLGIDVHDVGGYPEGVERIDEPGLRSLRTARHLQPGMVLTVEPGIYFIDH    351 - 420
LLDEALADPARASFLNREVLQRFRGFGGVRIEEDVVVTDSGIELLTCVPRTVEEIEACMAGCDKAFTPFS    421 - 490
GPK                                                                       491 - 493
//

Text Mined References (91)

PMID Year Title