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	megalencephalic leukoencephalopathy with subcortical cysts

Disease ID	935
Disease	megalencephalic leukoencephalopathy with subcortical cysts
Definition	Megalencephalic leukoencephalopathy with subcortical cysts (MLC, or Van der Knaap disease) is a form of hereditary CNS demyelinating disease. It belongs to a group of disorders called leukodystrophies. - Wikipedia Reference: https://en.wikipedia.org/wiki/megalencephalic leukoencephalopathy with subcortical cysts
Synonym	infantile leukoencephalopathy and megalencephaly leukoencephalopathy with swelling and a discrepantly mild course leukoencephalopathy with swelling and cysts megalencephalic leukoencephalopathy with subcortical cysts (disorder) megalencephaly-cystic leukodystrophy vacuolating leukoencephalopathy vacuolating megalencephalic leukoencephalopathy with subcortical cysts van der knaap disease van der knapp disease
Orphanet	ORPHANET:2478
OMIM	OMIM:604004
UMLS	C1858854
SNOMED-CT	SNOMEDCT_US_2016_09_01:703536004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0270612 \| leukoencephalopathy \| 11 C0023520 \| leukodystrophy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 220296 \| HEPACAM \| ORPHANET 23209 \| MLC1 \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	Symbol \| Locus(Total Locus:2) HEPACAM \| 11q24.2 MLC1 \| 22q13.33

Disease ID	935
Disease	megalencephalic leukoencephalopathy with subcortical cysts
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:2) HP:0002352 \| Leukoencephalopathy \| 16 HP:0002415 \| Degeneration of white matter of brain \| 1

Disease ID	935
Disease	megalencephalic leukoencephalopathy with subcortical cysts
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C0234428 \| consciousness disturbances
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Manually Genotypes:2)
Gene	Mutation	DOI	Article Title
MLC1	p.P92S	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population
MLC1	p.P92S*46	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:28)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121908341	NA	23209	MLC1	umls:C1858854	CLINVAR	NA	0.48868614	NA	MLC1	22	50068488	G	A
rs121908341	11254442	23209	MLC1	umls:C1858854	UNIPROT	Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts.	0.48868614	2001	MLC1	22	50068488	G	A
rs121908343	NA	23209	MLC1	umls:C1858854	CLINVAR	NA	0.48868614	NA	MLC1	22	50079918	G	T
rs121908343	11935341	23209	MLC1	umls:C1858854	UNIPROT	Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts.	0.48868614	2002	MLC1	22	50079918	G	T
rs121908344	NA	23209	MLC1	umls:C1858854	CLINVAR	NA	0.48868614	NA	MLC1	22	50079919	T	C
rs121908344	11935341	23209	MLC1	umls:C1858854	UNIPROT	Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts.	0.48868614	2002	MLC1	22	50079919	T	C
rs121908345	11935341	23209	MLC1	umls:C1858854	UNIPROT	Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts.	0.48868614	2002	MLC1	22	50080391	G	A
rs121908345	NA	23209	MLC1	umls:C1858854	CLINVAR	NA	0.48868614	NA	MLC1	22	50080391	G	A
rs267607236	NA	23209	MLC1	umls:C1858854	CLINVAR	NA	0.48868614	NA	MLC1	22	50076841	TGAG	-
rs281875309	NA	23209	MLC1	umls:C1858854	CLINVAR	NA	0.48868614	NA	MLC1	22	50083145	G	A
rs281875309	16652334	23209	MLC1	umls:C1858854	UNIPROT	Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1.	0.48868614	2006	MLC1	22	50083145	G	A
rs281875310	16652334	23209	MLC1	umls:C1858854	UNIPROT	Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1.	0.48868614	2006	MLC1	22	50083111	C	T
rs281875311	16652334	23209	MLC1	umls:C1858854	UNIPROT	Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1.	0.48868614	2006	MLC1	22	50083101	G	A
rs281875312	16652334	23209	MLC1	umls:C1858854	UNIPROT	Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1.	0.48868614	2006	MLC1	22	50070565	C	G
rs281875313	16652334	23209	MLC1	umls:C1858854	UNIPROT	Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1.	0.48868614	2006	MLC1	22	50064134	G	T,A
rs281875314	11935341	23209	MLC1	umls:C1858854	UNIPROT	Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts.	0.48868614	2002	MLC1	22	50079968	A	G
rs281875315	11935341	23209	MLC1	umls:C1858854	UNIPROT	Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts.	0.48868614	2002	MLC1	22	50070562	T	G
rs281875316	11254442	23209	MLC1	umls:C1858854	UNIPROT	Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts.	0.48868614	2001	MLC1	22	50079988	G	C,A
rs281875317	11254442	23209	MLC1	umls:C1858854	UNIPROT	Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts.	0.48868614	2001	MLC1	22	50074296	C	T
rs761620701	NA	23209	MLC1	umls:C1858854	CLINVAR	NA	0.48868614	NA	MLC1	22	50074215	C	T
rs786204747	NA	23209	MLC1	umls:C1858854	CLINVAR	NA	0.48868614	NA	MLC1	22	50080017	A	-
rs794729233	NA	23209	MLC1	umls:C1858854	CLINVAR	NA	0.48868614	NA	MLC1	22	50083128	C	-
rs80358241	NA	23209	MLC1	umls:C1858854	CLINVAR	NA	0.48868614	NA	MLC1	22	50084767	-	G
rs80358242	12189496	23209	MLC1	umls:C1858854	UNIPROT	Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a progressive inherited neurological disorder characterized by macrocephaly, deterioration in motor functions and cerebellar ataxia.	0.48868614	2002	MLC1	22	50084727	C	T
rs80358242	NA	23209	MLC1	umls:C1858854	CLINVAR	NA	0.48868614	NA	MLC1	22	50084727	C	T
rs80358243	NA	23209	MLC1	umls:C1858854	CLINVAR	NA	0.48868614	NA	MLC1	22	50083183	A	T,G
rs80358245	11254442	23209	MLC1	umls:C1858854	UNIPROT	Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts.	0.48868614	2001	MLC1	22	50080387	G	A
rs80358245	NA	23209	MLC1	umls:C1858854	CLINVAR	NA	0.48868614	NA	MLC1	22	50080387	G	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	935
Disease	megalencephalic leukoencephalopathy with subcortical cysts
Case	(Waiting for update.)