SLC16A2, solute carrier family 16 member 2, 6567

N. diseases: 108; N. variants: 30
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894931
rs104894931
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS) 		0.800 GeneticVariation UNIPROT Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome. 27805744 2017
dbSNP: rs104894936
rs104894936
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS) 		0.800 GeneticVariation UNIPROT Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome. 27805744 2017
dbSNP: rs104894938
rs104894938
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS) 		0.800 GeneticVariation UNIPROT Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome. 27805744 2017
dbSNP: rs104894939
rs104894939
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS) 		0.800 GeneticVariation UNIPROT Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome. 27805744 2017
dbSNP: rs122455132
rs122455132
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS) 		0.800 GeneticVariation UNIPROT Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome. 27805744 2017
dbSNP: rs587784384
rs587784384
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS) 		0.800 GeneticVariation UNIPROT Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome. 27805744 2017
dbSNP: rs104894931
rs104894931
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS) 		0.800 GeneticVariation UNIPROT Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation. 26426690 2015
dbSNP: rs104894931
rs104894931
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS) 		0.800 GeneticVariation UNIPROT Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene. 25380603 2015
dbSNP: rs104894931
rs104894931
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS) 		0.800 GeneticVariation UNIPROT Modulation of monocarboxylate transporter 8 oligomerization by specific pathogenic mutations. 25527620 2015
dbSNP: rs104894936
rs104894936
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS) 		0.800 GeneticVariation UNIPROT Modulation of monocarboxylate transporter 8 oligomerization by specific pathogenic mutations. 25527620 2015
dbSNP: rs104894936
rs104894936
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS) 		0.800 GeneticVariation UNIPROT Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation. 26426690 2015
dbSNP: rs104894936
rs104894936
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS) 		0.800 GeneticVariation UNIPROT Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene. 25380603 2015
dbSNP: rs104894938
rs104894938
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS) 		0.800 GeneticVariation UNIPROT Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene. 25380603 2015
dbSNP: rs104894938
rs104894938
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS) 		0.800 GeneticVariation UNIPROT Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation. 26426690 2015
dbSNP: rs104894938
rs104894938
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS) 		0.800 GeneticVariation UNIPROT Modulation of monocarboxylate transporter 8 oligomerization by specific pathogenic mutations. 25527620 2015
dbSNP: rs104894939
rs104894939
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS) 		0.800 GeneticVariation UNIPROT Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene. 25380603 2015
dbSNP: rs104894939
rs104894939
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS) 		0.800 GeneticVariation UNIPROT Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation. 26426690 2015
dbSNP: rs104894939
rs104894939
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS) 		0.800 GeneticVariation UNIPROT Modulation of monocarboxylate transporter 8 oligomerization by specific pathogenic mutations. 25527620 2015
dbSNP: rs122455132
rs122455132
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS) 		0.800 GeneticVariation UNIPROT Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation. 26426690 2015
dbSNP: rs122455132
rs122455132
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS) 		0.800 GeneticVariation UNIPROT Modulation of monocarboxylate transporter 8 oligomerization by specific pathogenic mutations. 25527620 2015
dbSNP: rs122455132
rs122455132
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS) 		0.800 GeneticVariation UNIPROT Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene. 25380603 2015
dbSNP: rs587784384
rs587784384
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS) 		0.800 GeneticVariation UNIPROT Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation. 26426690 2015
dbSNP: rs587784384
rs587784384
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS) 		T 0.800 GeneticVariation CLINVAR Modulation of monocarboxylate transporter 8 oligomerization by specific pathogenic mutations. 25527620 2015
dbSNP: rs587784384
rs587784384
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS) 		0.800 GeneticVariation UNIPROT Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene. 25380603 2015
dbSNP: rs587784384
rs587784384
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
CUI: C0795889
Disease:
Allan-Herndon-Dudley syndrome (AHDS) 		0.800 GeneticVariation UNIPROT Modulation of monocarboxylate transporter 8 oligomerization by specific pathogenic mutations. 25527620 2015