Property Summary

NCBI Gene PubMed Count 57
PubMed Score 76.36
PubTator Score 68.94

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count
Pulmonary Fibrosis 106
Abnormal blistering of the skin 54
Abnormal pigmentation 25
Abnormality of female internal genitalia 13
Abnormality of the fingernails 51
Abnormality of the pharynx 19
Adult onset 82
Alopecia 115
Anemia 365
Anorectal Malformations 8
Aplasia/Hypoplasia of the skin 16
Atrophic condition of skin 25
Autosomal recessive predisposition 1442
Blister of skin 54
Blood Coagulation Disorders 42
Bone marrow hypocellularity 20
Cellular immunodeficiency 17
Cerebellar Hypoplasia 61
Cerebral atrophy 178
Coagulation abnormalities 27
Cognitive delay 608
Decreased platelet count 111
Dental caries 164
Dilated ventricles (finding) 121
Dull intelligence 645
Dystrophia unguium 53
Esophageal Stenosis 15
Excessive wrinkled skin 16
Failure to gain weight 365
Fetal Growth Retardation 189
Frequent fractures 53
Generalized hyperpigmentation 22
Generalized hypopigmentation of hair 5
Gingival Diseases 19
Global developmental delay 608
Hemoglobin low 124
Hemorrhagic Disorders 30
Hyperhidrosis disorder 81
Hyperpigmented macules 42
Hypodontia 81
Hypoplastic-absent toenails 11
Immunologic Deficiency Syndromes 113
Increased fracture rate 53
Increased sweating 81
Infant, Small for Gestational Age 176
Infantile onset 238
Intellectual disability 1016
Intrauterine retardation 176
Large elongated pulp chamber 14
Leukokeratosis 19
Leukoplakia, Oral 20
Low intelligence 645
Malabsorption 82
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Muscle Hypertonia 88
Neutrophil abnormality 20
Pediatric failure to thrive 365
Periodontal Diseases 21
Poor school performance 645
Premature canities 24
Recurrent respiratory infections 141
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
Sweating 81
Taurodontism 14
Telangiectasia of the skin 39
Thin, sparse hair 59
Thrombocytopenia 197
Tracheoesophageal Fistula 36
Urethral Stricture 18
Varying degree of multiple fractures 53
hypopigmented skin patch 59
periodontitis 293
Disease Target Count P-value
diabetes mellitus 1728 1.2e-03
ovarian cancer 8520 1.9e-03
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.7

Expression

  Differential Expression (2)

Disease log2 FC p
diabetes mellitus -1.100 1.2e-03
ovarian cancer 1.500 1.9e-03

Gene RIF (32)

AA Sequence

MEIIRSNFKSNLHKVYQAIEEADFFAIDGEFSGISDGPSVSALTNGFDTPEERYQKLKKHSMDFLLFQFG      1 - 70
LCTFKYDYTDSKYITKSFNFYVFPKPFNRSSPDVKFVCQSSSIDFLASQGFDFNKVFRNGIPYLNQEEER     71 - 140
QLREQYDEKRSQANGAGALSYVSPNTSKCPVTIPEDQKKFIDQVVEKIEDLLQSEENKNLDLEPCTGFQR    141 - 210
KLIYQTLSWKYPKGIHVETLETEKKERYIVISKVDEEERKRREQQKHAKEQEELNDAVGFSRVIHAIANS    211 - 280
GKLVIGHNMLLDVMHTVHQFYCPLPADLSEFKEMTTCVFPRLLDTKLMASTQPFKDIINNTSLAELEKRL    281 - 350
KETPFNPPKVESAEGFPSYDTASEQLHEAGYDAYITGLCFISMANYLGSFLSPPKIHVSARSKLIEPFFN    351 - 420
KLFLMRVMDIPYLNLEGPDLQPKRDHVLHVTFPKEWKTSDLYQLFSAFGNIQISWIDDTSAFVSLSQPEQ    421 - 490
VKIAVNTSKYAESYRIQTYAEYMGRKQEEKQIKRKWTEDSWKEADSKRLNPQCIPYTLQNHYYRNNSFTA    491 - 560
PSTVGKRNLSPSQEEAGLEDGVSGEISDTELEQTDSCAEPLSEGRKKAKKLKRMKKELSPAGSISKNSPA    561 - 630
TLFEVPDTW                                                                 631 - 639
//

Text Mined References (67)

PMID Year Title