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: C3809768
Disease: IMMUNODEFICIENCY 13
IMMUNODEFICIENCY 13 		0.620 GeneticVariation disease UNIPROT The V22G mutation of Unc119 represents a novel genetic defect in ICL. 22184408 2012
CUI: C3809768
Disease: IMMUNODEFICIENCY 13
IMMUNODEFICIENCY 13 		0.620 GeneticVariation disease BEFREE The V22G mutation of Unc119 represents a novel genetic defect in ICL. 22184408 2012
CUI: C3809768
Disease: IMMUNODEFICIENCY 13
IMMUNODEFICIENCY 13 		0.620 Biomarker disease GENOMICS_ENGLAND The V22G mutation of Unc119 represents a novel genetic defect in ICL. 22184408 2012
CUI: C3809768
Disease: IMMUNODEFICIENCY 13
IMMUNODEFICIENCY 13 		0.620 GermlineCausalMutation disease ORPHANET The V22G mutation of Unc119 represents a novel genetic defect in ICL. 22184408 2012
CUI: C3809768
Disease: IMMUNODEFICIENCY 13
IMMUNODEFICIENCY 13 		0.620 GeneticVariation disease BEFREE Here we review our recent findings on the UNC119 mutation in ICL. 22729960 2012
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.310 GeneticVariation disease BEFREE Adenosine diphosphate (ADP)-ribosylation factor-like 2 (ARL2) protein participates in a broad range of cellular processes and acts as a mediator for mutant ARL2BP in cilium-associated retinitis pigmentosa and for mutant HRG4 in mitochondria-related photoreceptor degeneration. 30945270 2019
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.310 GermlineCausalMutation disease ORPHANET Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands. 26992781 2016
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: 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: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		0.310 Biomarker disease GENOMICS_ENGLAND
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		0.300 Biomarker disease GENOMICS_ENGLAND A mutation in the human Uncoordinated 119 gene impairs TCR signaling and is associated with CD4 lymphopenia. 22184408 2012
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 BEFREE A mutation of human UNC119 impairs LCK activation and is associated with inadequate signaling, diminished T cell responses to TCR stimulation, CD4 lymphopenia, and infections of viral, bacterial, and fungal origin. 22729960 2012
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