Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Abnormality of the aryepiglottic fold
0.100 Biomarker disease HPO
CUI: C4021776
Disease: Abnormality of the voice
Abnormality of the voice
0.100 Biomarker disease HPO
CUI: C0158489
Disease: Acquired clubfoot
Acquired clubfoot
0.300 Biomarker disease GENOMICS_ENGLAND Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice. 9449664 1998
CUI: C1332140
Disease: Acrofacial Dysostosis
Acrofacial Dysostosis
0.010 Biomarker disease BEFREE Mutations in several other genes involved in spliceosomal function or linked aspects of mRNA processing have also recently been identified in human disorders with specific craniofacial malformations: SF3B4 in Nager syndrome, an acrofacial dysostosis (AFD); SNRPB in cerebrocostomandibular syndrome, characterized by Robin sequence and rib defects; EIF4A3 in the AFD Richieri-Costa-Pereira syndrome, characterized by Robin sequence, median mandibular cleft and limb defects; and TXNL4A in Burn-McKeown syndrome, involving specific craniofacial dysmorphisms. 25865758 2015
Agenesis of mandibular central incisor
0.100 Biomarker disease HPO
CUI: C4024628
Disease: Aplasia of the epiglottis
Aplasia of the epiglottis
0.100 Biomarker disease HPO
CUI: C4551488
Disease: Bifid uvula
Bifid uvula
0.100 Biomarker disease HPO
CUI: C1837822
Disease: Burn-Mckeown syndrome
Burn-Mckeown syndrome
0.010 Biomarker disease BEFREE Mutations in several other genes involved in spliceosomal function or linked aspects of mRNA processing have also recently been identified in human disorders with specific craniofacial malformations: SF3B4 in Nager syndrome, an acrofacial dysostosis (AFD); SNRPB in cerebrocostomandibular syndrome, characterized by Robin sequence and rib defects; EIF4A3 in the AFD Richieri-Costa-Pereira syndrome, characterized by Robin sequence, median mandibular cleft and limb defects; and TXNL4A in Burn-McKeown syndrome, involving specific craniofacial dysmorphisms. 25865758 2015
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
0.100 Biomarker disease HPO
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.060 Biomarker phenotype BEFREE In this review, we discuss extensively the tumor-suppressive (for example, LINC00271, MEG3, NAMA, PTCSC1/2/3, etc.) and oncogenic (for example, ANRIL, FAL1, H19, PVT1, etc.) roles of various lncRNAs and their possible disease associations implicated in thyroid carcinogenesis. 29146581 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.060 Biomarker phenotype BEFREE FAL1 may promote tumorigenesis and progression of NSCLC through the PTEN/AKT axis, which could lead to lncRNA-related diagnostics and therapeutics in NSCLC. 28854421 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.060 Biomarker phenotype BEFREE EIF4A3-induced circular RNA MMP9 (circMMP9) acts as a sponge of miR-124 and promotes glioblastoma multiforme cell tumorigenesis. 30470262 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.060 Biomarker phenotype BEFREE Recently, investigations have focused on EIF4A3 dysfunction in carcinogenesis. 30588240 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.060 Biomarker phenotype BEFREE Taken together, our findings underscore the crucial roles of lncRNA FAL1 in CRC carcinogenesis and its potential prognostic and therapeutic value. 30267804 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.060 Biomarker phenotype BEFREE This study aims to elucidate the regulatory effect of long non-coding RNA (lncRNA) FAL1 on the tumorigenesis of oral squamous cell carcinoma (OSCC), and to explore its underlying mechanism. 31298329 2019
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
0.010 Biomarker disease BEFREE Three proteins were uniquely altered in vaginal carcinoma (DDX48, erbB3-binding protein and biliverdin reductase) and five in cervical carcinoma (peroxiredoxin 2, annexin A2, sarcomeric tropomyosin kappa, human ribonuclease inhibitor and prolyl-4-hydrolase beta). 19367286 2009
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma
0.010 Biomarker disease BEFREE LncRNA FAL1 is a negative prognostic biomarker and exhibits pro-oncogenic function in osteosarcoma. 29987852 2018
CUI: C1849350
Disease: Cleft lower alveolar ridge
Cleft lower alveolar ridge
0.100 Biomarker phenotype HPO
CUI: C0685786
Disease: Cleft mandible
Cleft mandible
0.400 Biomarker phenotype GENOMICS_ENGLAND Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice. 9449664 1998
CUI: C0685786
Disease: Cleft mandible
Cleft mandible
0.400 Biomarker phenotype HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.300 Biomarker disease GENOMICS_ENGLAND Richieri-Costa-Pereira syndrome: Expanding its phenotypic and genotypic spectrum. 29112243 2018
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
0.100 Biomarker disease HPO
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.020 Biomarker disease BEFREE Here, we firstly report that the lncRNA H19 recruits eIF4A3 and promotes the CRC cell proliferation. 26989025 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.020 Biomarker disease BEFREE LncRNA FAL1 promotes carcinogenesis by regulation of miR-637/NUPR1 pathway in colorectal cancer. 30267804 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.010 Biomarker group BEFREE Mutations in several other genes involved in spliceosomal function or linked aspects of mRNA processing have also recently been identified in human disorders with specific craniofacial malformations: SF3B4 in Nager syndrome, an acrofacial dysostosis (AFD); SNRPB in cerebrocostomandibular syndrome, characterized by Robin sequence and rib defects; EIF4A3 in the AFD Richieri-Costa-Pereira syndrome, characterized by Robin sequence, median mandibular cleft and limb defects; and TXNL4A in Burn-McKeown syndrome, involving specific craniofacial dysmorphisms. 25865758 2015