MCOLN1, mucolipin 1, 57192

N. diseases: 102; N. variants: 40
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		0.800 GermlineCausalMutation disease ORPHANET LAPTMs regulate lysosomal function and interact with mucolipin 1: new clues for understanding mucolipidosis type IV. 21224396 2011
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		0.800 GermlineCausalMutation disease ORPHANET Mucolipidosis type IV: an update. 21763169 2011
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		0.800 CausalMutation disease CLINVAR The data indicate that ML1 channel activity is regulated by a pH-dependent mechanism that is deficient in some MLIV causing mutations of the gene. 14749347 2004
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		0.800 CausalMutation disease CLINVAR The MLIV gene, ML4 (MCOLN1), has recently been localized to chromosome 19p13.2-13.3 by genetic linkage. 11030752 2000
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		0.800 CausalMutation disease CLINVAR Rapid one-step carrier detection assay of mucolipidosis IV mutations in the Ashkenazi Jewish population. 16645217 2006
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		0.800 CausalMutation disease CLINVAR Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent. 19815695 2009
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		0.800 CausalMutation disease CLINVAR Comprehensive arrayed primer extension array for the detection of 59 sequence variants in 15 conditions prevalent among the (Ashkenazi) Jewish population. 17384215 2007
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		0.800 CausalMutation disease CLINVAR Haplotype analysis in the MLIV gene region of over 70 MLIV Ashkenazi chromosomes indicated the existence of two founder chromosomes among 95% of the Ashkenazi MLIV families: a major haplotype in 72% and a minor haplotype in 23% of the MLIV chromosomes (ref.7, and G.B., unpublished data). 10973263 2000
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		0.800 CausalMutation disease CLINVAR Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV. 11013137 2000
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		0.800 CausalMutation disease CLINVAR The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations. 16287144 2005
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		0.800 CausalMutation disease CLINVAR Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation. 17239335 2007
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		0.800 CausalMutation disease CLINVAR Isolated ocular disease is associated with decreased mucolipin-1 channel conductance. 18326692 2008
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		0.800 CausalMutation disease CLINVAR Mucolipidosis type IV (MLIV) is an autosomal recessive disease caused by mutations in the MCOLN1 gene that codes for mucolipin, a member of the transient receptor potential (TRP) gene family. 12182165 2002
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		0.800 CausalMutation disease CLINVAR Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population. 11317355 2001
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		0.800 CausalMutation disease CLINVAR Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population. 11845410 2002
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses 		0.450 CausalMutation disease CLINVAR Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent. 19815695 2009
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses 		0.450 CausalMutation disease CLINVAR Identification of the gene causing mucolipidosis type IV. 10973263 2000
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses 		0.450 CausalMutation disease CLINVAR High-throughput carrier screening using TaqMan allelic discrimination. 23555759 2013
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses 		0.450 CausalMutation disease CLINVAR Rapid one-step carrier detection assay of mucolipidosis IV mutations in the Ashkenazi Jewish population. 16645217 2006
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses 		0.450 CausalMutation disease CLINVAR Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population. 11845410 2002
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Quantitative neuroimaging in mucolipidosis type IV. 24332805 2014
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population. 11317355 2001
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR The neurogenetics of mucolipidosis type IV. 12182165 2002
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Mucolipidosis type IV. 11461186 2001
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR Mucolipidosis type IV: characteristic MRI findings. 9710036 1998