RARB, retinoic acid receptor beta, 5915

N. diseases: 254; N. variants: 34
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.100 GeneticVariation phenotype GWASDB Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. 23284291 2012
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests 		0.100 GeneticVariation phenotype GWASDB Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction. 22837378 2012
CUI: C0231921
Disease: Pulmonary function
Pulmonary function 		0.100 GeneticVariation phenotype GWASDB Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. 21946350 2011
CUI: C3160731
Disease: Pulmonary function (finding)
Pulmonary function (finding) 		0.100 GeneticVariation phenotype GWASDB Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. 21946350 2011
CUI: C3809803
Disease: MICROPHTHALMIA, SYNDROMIC 12
MICROPHTHALMIA, SYNDROMIC 12 		0.700 Biomarker disease GENOMICS_ENGLAND The genetic architecture of microphthalmia, anophthalmia and coloboma. 24859618 2014
CUI: C3809803
Disease: MICROPHTHALMIA, SYNDROMIC 12
MICROPHTHALMIA, SYNDROMIC 12 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3809803
Disease: MICROPHTHALMIA, SYNDROMIC 12
MICROPHTHALMIA, SYNDROMIC 12 		0.700 GeneticVariation disease UNIPROT Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia. 24075189 2013
CUI: C3809803
Disease: MICROPHTHALMIA, SYNDROMIC 12
MICROPHTHALMIA, SYNDROMIC 12 		0.700 GeneticVariation disease UNIPROT Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment. 27120018 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.310 GeneticVariation disease UNIPROT
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.310 GermlineCausalMutation disease ORPHANET We then sequenced RARB in 15 subjects with anophthalmia and/or microphthalmia and at least one other feature of PDAC syndrome. 24075189 2013
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.130 Biomarker disease HPO
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		0.120 Biomarker disease HPO
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.110 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.100 Biomarker phenotype HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		0.100 Biomarker disease HPO
CUI: C0149955
Disease: Annular pancreas
Annular pancreas 		0.100 Biomarker disease HPO
CUI: C0221353
Disease: Horseshoe Kidney
Horseshoe Kidney 		0.100 Biomarker disease HPO
CUI: C0238093
Disease: Stenosis of duodenum
Stenosis of duodenum 		0.100 Biomarker disease HPO
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker disease HPO
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		0.100 Biomarker disease HPO
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney 		0.100 Biomarker disease HPO