MIR184, microRNA 184, 406960

N. diseases: 119; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3280392
Disease: EDICT syndrome
EDICT syndrome 		0.670 Biomarker disease BEFREE m-miR-184 (mutant miR-184, r.57c > u) appears in familial hereditary ocular diseases, including keratoconus, cataracts, EDICT (endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning) syndrome, severe keratoconus, and non-ectatic corneal thinning. 28624226 2017
CUI: C3280392
Disease: EDICT syndrome
EDICT syndrome 		0.670 GeneticVariation disease BEFREE Recently, polymorphisms in the seed region of miR-184 have been identified in familial severe KC and stromal thinning (endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning [EDICT]) syndrome. 26845316 2016
CUI: C3280392
Disease: EDICT syndrome
EDICT syndrome 		0.670 Biomarker disease GENOMICS_ENGLAND Screening of the Seed Region of MIR184 in Keratoconus Patients from Saudi Arabia. 26380287 2015
CUI: C3280392
Disease: EDICT syndrome
EDICT syndrome 		0.670 GeneticVariation disease BEFREE A c.57 C > T mutation in the seed region of MIR184 located at the 15q25.1 chromosomal region has been independently associated with autosomal dominant keratoconus with early-onset anterior polar cataract in the Northern Irish family and with autosomal dominant EDICT (Endothelial Dystrophy, Iris hypoplasia, Congenital cataracts, and stromal Thinning) syndrome. 24138095 2015
CUI: C3280392
Disease: EDICT syndrome
EDICT syndrome 		0.670 Biomarker disease GENOMICS_ENGLAND A c.57 C > T mutation in the seed region of MIR184 located at the 15q25.1 chromosomal region has been independently associated with autosomal dominant keratoconus with early-onset anterior polar cataract in the Northern Irish family and with autosomal dominant EDICT (Endothelial Dystrophy, Iris hypoplasia, Congenital cataracts, and stromal Thinning) syndrome. 24138095 2015
CUI: C3280392
Disease: EDICT syndrome
EDICT syndrome 		0.670 Biomarker disease BEFREE Family-based studies have recently led to the identification of the MIR184 gene for keratoconus with cataract and to the DOCK9 gene in a family with isolated keratoconus. 23387289 2013
CUI: C3280392
Disease: EDICT syndrome
EDICT syndrome 		0.670 GeneticVariation disease BEFREE A mutation miR-184(+57C>T) in the seed region of miR-184 (encoded by MIR184 [MIM*613146]) results in familial severe keratoconus combined with early-onset anterior polar cataract and endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (EDICT) syndrome (MIM#614303). 23833072 2013
CUI: C3280392
Disease: EDICT syndrome
EDICT syndrome 		0.670 Biomarker disease BEFREE The single-base-pair substitution in the seed region of miR-184 is responsible for the disease phenotype observed in EDICT syndrome. 22131394 2012
CUI: C3280392
Disease: EDICT syndrome
EDICT syndrome 		0.670 GermlineCausalMutation disease ORPHANET Mutation altering the miR-184 seed region causes familial keratoconus with cataract. 21996275 2011
CUI: C3280392
Disease: EDICT syndrome
EDICT syndrome 		0.670 GeneticVariation disease BEFREE Mutation altering the miR-184 seed region causes familial keratoconus with cataract. 21996275 2011
CUI: C3280392
Disease: EDICT syndrome
EDICT syndrome 		0.670 Biomarker disease GENOMICS_ENGLAND Mutation altering the miR-184 seed region causes familial keratoconus with cataract. 21996275 2011
CUI: C3280392
Disease: EDICT syndrome
EDICT syndrome 		0.670 Biomarker disease GENOMICS_ENGLAND
CUI: C3280392
Disease: EDICT syndrome
EDICT syndrome 		0.670 Biomarker disease CTD_human
CUI: C0022578
Disease: Keratoconus
Keratoconus 		0.350 GeneticVariation disease BEFREE Recently, polymorphisms in the seed region of miR-184 have been identified in familial severe KC and stromal thinning (endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning [EDICT]) syndrome. 26845316 2016
CUI: C0022578
Disease: Keratoconus
Keratoconus 		0.350 GeneticVariation disease BEFREE This suggests that mutation in MIR184 is a rare cause of KC alone and may be more relevant to cases of KC associated with other ocular abnormalities. 26380287 2015
CUI: C0022578
Disease: Keratoconus
Keratoconus 		0.350 Biomarker disease GENOMICS_ENGLAND This suggests that mutation in MIR184 is a rare cause of KC alone and may be more relevant to cases of KC associated with other ocular abnormalities. 26380287 2015
CUI: C0022578
Disease: Keratoconus
Keratoconus 		0.350 GeneticVariation disease BEFREE Family-based studies have recently led to the identification of the MIR184 gene for keratoconus with cataract and to the DOCK9 gene in a family with isolated keratoconus. 23387289 2013
CUI: C0022578
Disease: Keratoconus
Keratoconus 		0.350 GeneticVariation disease BEFREE There was no significant association of rs41280052, which lies within the stem-loop of miR-184, with keratoconus. 23833072 2013
CUI: C0022578
Disease: Keratoconus
Keratoconus 		0.350 GeneticVariation disease BEFREE We found that a mutation in the seed region of miR-184 (MIR184) is responsible for familial severe keratoconus combined with early-onset anterior polar cataract by deep sequencing of a linkage region known to contain the mutation. 21996275 2011
CUI: C0028754
Disease: Obesity
Obesity 		0.300 Biomarker disease CTD_human Obese mouse ovaries had decreased Irs1, Foxo3a, Cyp2e1, MiR-103, and MiR-21 but increased Kitlg, Akt1, and miR-184 levels relative to lean littermates. 23954404 2013
CUI: C0344539
Disease: Hypoplasia of iris
Hypoplasia of iris 		0.120 GeneticVariation disease BEFREE A c.57 C > T mutation in the seed region of MIR184 located at the 15q25.1 chromosomal region has been independently associated with autosomal dominant keratoconus with early-onset anterior polar cataract in the Northern Irish family and with autosomal dominant EDICT (Endothelial Dystrophy, Iris hypoplasia, Congenital cataracts, and stromal Thinning) syndrome. 24138095 2015
CUI: C0344539
Disease: Hypoplasia of iris
Hypoplasia of iris 		0.120 GeneticVariation disease BEFREE A mutation miR-184(+57C>T) in the seed region of miR-184 (encoded by MIR184 [MIM*613146]) results in familial severe keratoconus combined with early-onset anterior polar cataract and endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (EDICT) syndrome (MIM#614303). 23833072 2013
CUI: C0344539
Disease: Hypoplasia of iris
Hypoplasia of iris 		0.120 Biomarker disease HPO
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 AlteredExpression group BEFREE The downregulation of miR-184 in renal carcinoma cells could facilitate cell apoptosis and inhibited tumor proliferation or invasion possibly via modulating β-catenin/TCF4 pathway. 31486487 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE MiR-184 may be downregulated in a subset of blastemal and other Wilms' tumors. 30959135 2019