Property Summary

Ligand Count 161
NCBI Gene PubMed Count 1,487
PubMed Score 3506.36
PubTator Score 3555.38

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
Anemia 365
Abnormal blistering of the skin 54
Abnormality of female internal genitalia 13
Abnormality of the fingernails 51
Abnormality of the lymphatic system 14
Abnormality of the pharynx 19
Alopecia 115
Anorectal Malformations 8
Aplasia/Hypoplasia of the skin 16
Aplastic anemia, idiopathic 4
Atrophic condition of skin 25
Basal cell carcinoma 54
Bladder Neoplasm 112
Blister of skin 54
Blood Coagulation Disorders 42
Bone marrow hypocellularity 20
Bronchioloalveolar Adenocarcinoma 14
Cellular immunodeficiency 17
Cerebellar Ataxia 304
Cerebellar Hypoplasia 61
Cerebral atrophy 178
Clear cell sarcoma of kidney 6
Coagulation abnormalities 27
Cognitive delay 608
Decreased platelet count 111
Dental caries 164
Dilated ventricles (finding) 121
Dry skin 75
Dull intelligence 645
Dyspnea on exertion 24
Dystrophia unguium 53
Early tooth exfoliation 17
Esophageal Stenosis 15
Excessive wrinkled skin 16
Failure to gain weight 365
Fetal Growth Retardation 189
Freckles 33
Frequent fractures 53
Generalized hyperpigmentation 22
Generalized hypopigmentation of hair 5
Gingival Diseases 19
Global developmental delay 608
Globulin gamma serum plasma increased result 9
Hair shaft abnormalities 30
Hemoglobin low 124
Hemorrhagic Disorders 30
Hereditary Melanoma 12
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Hypergammaglobulinemia 10
Hyperglobulinemia 9
Hyperhidrosis disorder 81
Hyperpigmented macules 42
Hypodontia 81
Hypoplastic myelodysplasia 18
Hypoplastic-absent toenails 11
Idiopathic pulmonary arterial hypertension 40
Immunologic Deficiency Syndromes 113
Increased fracture rate 53
Increased sweating 81
Infant, Small for Gestational Age 176
Intellectual disability 1016
Intrauterine retardation 176
Large elongated pulp chamber 14
Leukokeratosis 19
Leukoplakia, Oral 20
Liver Cirrhosis 181
Liver carcinoma 240
Low intelligence 645
Lymphatic Diseases 14
Lymphoid leukemia 160
Lymphopenia 67
MELANOMA, CUTANEOUS MALIGNANT, 1 13
MYELODYSPLASTIC SYNDROME 53
Major Depressive Disorder 301
Malabsorption 82
Mammary Neoplasms 425
Melanocytic nevus 43
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Muscle Hypertonia 88
Myeloid Leukemia, Chronic 23
Neutrophil abnormality 20
Nevus 19
Osteoporosis 363
Pancreatic Neoplasm 85
Pediatric failure to thrive 365
Periodontal Diseases 21
Phenotypic variability 150
Pitting of nails 6
Pneumonia 174
Pneumonia, Interstitial 5
Poor school performance 645
Premature canities 24
Premature tooth loss 17
Pulmonary hypertension 86
Raised level of immunoglobulins NOS 9
Recurrent respiratory infections 141
Reticulate hyperpigmentation 5
Ridged nails 14
Rotting teeth 73
Rough bone trabeculation 11
Short stature 531
Skin Ulcer 48
Skin bulla 54
Small head 374
Sparse hair 59
Sparse scalp hair 42
Specific learning disability 47
Squamous cell carcinoma of skin 11
Sweating 81
Taurodontism 14
Telangiectasia of the skin 39
Thin, sparse hair 59
Thrombocytopenia 197
Thyroid Neoplasm 37
Tracheoesophageal Fistula 36
Unipolar Depression 250
Urethral Stricture 18
Uterine Cervical Neoplasm 25
Varying degree of multiple fractures 53
Xerosis 75
gamma globulins increased 9
hair abnormalities (non-specific) 30
hypopigmented skin patch 59
ovarian neoplasm 99
periodontitis 293
pulmonary arterial hypertension 76
Disease Target Count P-value
cystic fibrosis 1696 5.0e-06
medulloblastoma, large-cell 6241 1.6e-03
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.7
Disease Target Count Z-score Confidence
Cholangiocarcinoma 35 0.0 5.0
Disease Target Count Z-score Confidence
Cancer 2499 6.479 3.2
Esophagitis 35 3.367 1.7
Adenoma 167 3.165 1.6

Expression

  Differential Expression (2)

Disease log2 FC p
cystic fibrosis -2.800 5.0e-06
medulloblastoma, large-cell 1.400 1.6e-03

Gene RIF (1440)

AA Sequence

MPRAPRCRAVRSLLRSHYREVLPLATFVRRLGPQGWRLVQRGDPAAFRALVAQCLVCVPWDARPPPAAPS      1 - 70
FRQVSCLKELVARVLQRLCERGAKNVLAFGFALLDGARGGPPEAFTTSVRSYLPNTVTDALRGSGAWGLL     71 - 140
LRRVGDDVLVHLLARCALFVLVAPSCAYQVCGPPLYQLGAATQARPPPHASGPRRRLGCERAWNHSVREA    141 - 210
GVPLGLPAPGARRRGGSASRSLPLPKRPRRGAAPEPERTPVGQGSWAHPGRTRGPSDRGFCVVSPARPAE    211 - 280
EATSLEGALSGTRHSHPSVGRQHHAGPPSTSRPPRPWDTPCPPVYAETKHFLYSSGDKEQLRPSFLLSSL    281 - 350
RPSLTGARRLVETIFLGSRPWMPGTPRRLPRLPQRYWQMRPLFLELLGNHAQCPYGVLLKTHCPLRAAVT    351 - 420
PAAGVCAREKPQGSVAAPEEEDTDPRRLVQLLRQHSSPWQVYGFVRACLRRLVPPGLWGSRHNERRFLRN    421 - 490
TKKFISLGKHAKLSLQELTWKMSVRDCAWLRRSPGVGCVPAAEHRLREEILAKFLHWLMSVYVVELLRSF    491 - 560
FYVTETTFQKNRLFFYRKSVWSKLQSIGIRQHLKRVQLRELSEAEVRQHREARPALLTSRLRFIPKPDGL    561 - 630
RPIVNMDYVVGARTFRREKRAERLTSRVKALFSVLNYERARRPGLLGASVLGLDDIHRAWRTFVLRVRAQ    631 - 700
DPPPELYFVKVDVTGAYDTIPQDRLTEVIASIIKPQNTYCVRRYAVVQKAAHGHVRKAFKSHVSTLTDLQ    701 - 770
PYMRQFVAHLQETSPLRDAVVIEQSSSLNEASSGLFDVFLRFMCHHAVRIRGKSYVQCQGIPQGSILSTL    771 - 840
LCSLCYGDMENKLFAGIRRDGLLLRLVDDFLLVTPHLTHAKTFLRTLVRGVPEYGCVVNLRKTVVNFPVE    841 - 910
DEALGGTAFVQMPAHGLFPWCGLLLDTRTLEVQSDYSSYARTSIRASLTFNRGFKAGRNMRRKLFGVLRL    911 - 980
KCHSLFLDLQVNSLQTVCTNIYKILLLQAYRFHACVLQLPFHQQVWKNPTFFLRVISDTASLCYSILKAK    981 - 1050
NAGMSLGAKGAAGPLPSEAVQWLCHQAFLLKLTRHRVTYVPLLGSLRTAQTQLSRKLPGTTLTALEAAAN   1051 - 1120
PALPSDFKTILD                                                             1121 - 1132
//

Text Mined References (1495)

PMID Year Title