UNC119, unc-119 lipid binding chaperone, 9094

N. diseases: 33; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		0.310 Biomarker disease GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0206744
Disease: T-Lymphocytopenia, Idiopathic CD4-Positive
T-Lymphocytopenia, Idiopathic CD4-Positive 		0.300 Biomarker disease CTD_human
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		0.110 Biomarker disease HPO
CUI: C0009398
Disease: Color vision defect
Color vision defect 		0.100 Biomarker phenotype HPO
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		0.100 Biomarker group HPO
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		0.100 Biomarker disease HPO
CUI: C0032285
Disease: Pneumonia
Pneumonia 		0.100 Biomarker disease HPO
CUI: C0085636
Disease: Photophobia
Photophobia 		0.100 Biomarker phenotype HPO
CUI: C0242770
Disease: Bronchiolitis Obliterans Organizing Pneumonia
Bronchiolitis Obliterans Organizing Pneumonia 		0.100 Biomarker disease HPO
CUI: C0581354
Disease: Recurrent sinusitis
Recurrent sinusitis 		0.100 Biomarker disease HPO
CUI: C0747085
Disease: Recurrent otitis media
Recurrent otitis media 		0.100 Biomarker disease HPO
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		0.100 Biomarker phenotype HPO
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		0.100 Biomarker phenotype HPO
CUI: C3809776
Disease: Recurrent shingles
Recurrent shingles 		0.100 Biomarker phenotype HPO
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.020 Biomarker group BEFREE Given its strong degree of evolutionary conservation and abundant and nearly exclusive expression in photoreceptors, it is likely that UNC-119 plays an important role in vision and is a strong candidate gene for retinal diseases that map to 17q11.2. 9761287 1998
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.310 Biomarker disease CTD_human HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model. 11006213 2000
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.310 GermlineCausalMutation disease ORPHANET HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model. 11006213 2000
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.020 GeneticVariation group BEFREE HRG4 was screened for mutations in patients with various retinopathies, and a transgenic mouse model was constructed and analyzed based on a mutation found. 11006213 2000
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.310 GeneticVariation disease BEFREE A heterozygous truncation mutation in HRG4 was found in a patient with late onset cone-rod dystrophy, and a transgenic (TG) mouse expressing the identical mutant protein developed late onset retinal degeneration, confirming the pathogenic potential of HRG4. 17174953 2007
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		0.310 GeneticVariation disease BEFREE A heterozygous truncation mutation in HRG4 was found in a patient with late onset cone-rod dystrophy, and a transgenic (TG) mouse expressing the identical mutant protein developed late onset retinal degeneration, confirming the pathogenic potential of HRG4. 17174953 2007
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration 		0.020 Biomarker disease BEFREE Recently, the dominant negative pathogenic mechanism in the TG model was shown to involve increased affinity of the truncated mutant HRG4 for its target, ARL2, which leads to a delayed decrease in its downstream target, mitochondrial ANT1, mitochondrial stress, synaptic degeneration, trans-synaptic degeneration, and whole photoreceptor degeneration by apoptosis. 17174953 2007
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.010 AlteredExpression group BEFREE Using primary lung fibroblasts from patients with fibrotic lung diseases and control subjects, we show that the expression of alpha-smooth muscle actin is highly correlated with that of Unc119. 17579091 2007
CUI: C1854065
Disease: LATE-ONSET RETINAL DEGENERATION (disorder)
LATE-ONSET RETINAL DEGENERATION (disorder) 		0.010 GeneticVariation disease BEFREE A heterozygous truncation mutation in HRG4 was found in a patient with late onset cone-rod dystrophy, and a transgenic (TG) mouse expressing the identical mutant protein developed late onset retinal degeneration, confirming the pathogenic potential of HRG4. 17174953 2007