Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356560
rs80356560
Entrez Id: 1678
Gene Symbol: TIMM8A
TIMM8A
CUI: C0796074
Disease:
MOHR-TRANEBJAERG SYNDROME 		0.800 GeneticVariation UNIPROT Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex. 11875042 2002
dbSNP: rs80356560
rs80356560
Entrez Id: 1678
Gene Symbol: TIMM8A
TIMM8A
CUI: C0796074
Disease:
MOHR-TRANEBJAERG SYNDROME 		0.800 GeneticVariation UNIPROT Thus, an assembly defect of DDP1 is the molecular basis of Mohr-Tranebjaerg syndrome in patients carrying the C66W mutation. 11956200 2002
dbSNP: rs80356560
rs80356560
Entrez Id: 1678
Gene Symbol: TIMM8A
TIMM8A
CUI: C0796074
Disease:
MOHR-TRANEBJAERG SYNDROME 		0.800 GeneticVariation UNIPROT Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene. 11803487 2001
dbSNP: rs128622212
rs128622212
Entrez Id: 695;1678
Gene Symbol: BTK;TIMM8A
BTK;TIMM8A
CUI: C0221026
Disease:
X-linked agammaglobulinemia 		0.800 GeneticVariation UNIPROT Twin carriers of X-linked agammaglobulinemia (XLA) due to germline mutation in the Btk gene. 10678660 2000
dbSNP: rs128622212
rs128622212
Entrez Id: 695;1678
Gene Symbol: BTK;TIMM8A
BTK;TIMM8A
CUI: C0221026
Disease:
X-linked agammaglobulinemia 		0.800 GeneticVariation UNIPROT Identification of nine novel mutations in the Bruton's tyrosine kinase gene in X-linked agammaglobulinaemia patients. 10612838 2000
dbSNP: rs80356560
rs80356560
Entrez Id: 1678
Gene Symbol: TIMM8A
TIMM8A
CUI: C0796074
Disease:
MOHR-TRANEBJAERG SYNDROME 		0.800 GeneticVariation UNIPROT A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome. 10878669 2000
dbSNP: rs128622212
rs128622212
Entrez Id: 695;1678
Gene Symbol: BTK;TIMM8A
BTK;TIMM8A
CUI: C0221026
Disease:
X-linked agammaglobulinemia 		0.800 GeneticVariation UNIPROT Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia. 10220140 1999
dbSNP: rs128622212
rs128622212
Entrez Id: 695;1678
Gene Symbol: BTK;TIMM8A
BTK;TIMM8A
CUI: C0221026
Disease:
X-linked agammaglobulinemia 		0.800 GeneticVariation UNIPROT Mutations in btk in patients with presumed X-linked agammaglobulinemia. 9545398 1998
dbSNP: rs128622212
rs128622212
Entrez Id: 695;1678
Gene Symbol: BTK;TIMM8A
BTK;TIMM8A
CUI: C0221026
Disease:
X-linked agammaglobulinemia 		0.800 GeneticVariation UNIPROT BTKbase, mutation database for X-linked agammaglobulinemia (XLA) 9016530 1997
dbSNP: rs128622212
rs128622212
Entrez Id: 695;1678
Gene Symbol: BTK;TIMM8A
BTK;TIMM8A
CUI: C0221026
Disease:
X-linked agammaglobulinemia 		0.800 GeneticVariation UNIPROT Missense mutations affecting a conserved cysteine pair in the TH domain of Btk. 9280283 1997
dbSNP: rs128622212
rs128622212
Entrez Id: 695;1678
Gene Symbol: BTK;TIMM8A
BTK;TIMM8A
CUI: C0221026
Disease:
X-linked agammaglobulinemia 		0.800 GeneticVariation UNIPROT Molecular and structural characterization of five novel mutations in the Bruton's tyrosine kinase gene from patients with X-linked agammaglobulinemia. 9260159 1997
dbSNP: rs128622212
rs128622212
Entrez Id: 695;1678
Gene Symbol: BTK;TIMM8A
BTK;TIMM8A
CUI: C0221026
Disease:
X-linked agammaglobulinemia 		0.800 GeneticVariation UNIPROT Detection of a novel mutation in the SRC homology domain 2 (SH2) of Bruton's tyrosine kinase and direct female carrier evaluation in a family with X-linked agammaglobulinemia. 8723128 1996
dbSNP: rs128622212
rs128622212
Entrez Id: 695;1678
Gene Symbol: BTK;TIMM8A
BTK;TIMM8A
CUI: C0221026
Disease:
X-linked agammaglobulinemia 		0.800 GeneticVariation UNIPROT Mutations of the Btk gene in 12 unrelated families with X-linked agammaglobulinemia in Japan. 8834236 1996
dbSNP: rs128622212
rs128622212
Entrez Id: 695;1678
Gene Symbol: BTK;TIMM8A
BTK;TIMM8A
CUI: C0221026
Disease:
X-linked agammaglobulinemia 		0.800 GeneticVariation UNIPROT BTKbase, mutation database for X-linked agammaglobulinemia (XLA). 8594569 1996
dbSNP: rs128622212
rs128622212
Entrez Id: 695;1678
Gene Symbol: BTK;TIMM8A
BTK;TIMM8A
CUI: C0221026
Disease:
X-linked agammaglobulinemia 		0.800 GeneticVariation UNIPROT Identification of Bruton's tyrosine kinase (Btk) gene mutations and characterization of the derived proteins in 35 X-linked agammaglobulinemia families: a nationwide study of Btk deficiency in Japan. 8695804 1996
dbSNP: rs128622212
rs128622212
Entrez Id: 695;1678
Gene Symbol: BTK;TIMM8A
BTK;TIMM8A
CUI: C0221026
Disease:
X-linked agammaglobulinemia 		0.800 GeneticVariation UNIPROT Mutation analysis in Bruton's tyrosine kinase, the X-linked agammaglobulinaemia gene, including identification of an insertional hotspot. 7633429 1995
dbSNP: rs128622212
rs128622212
Entrez Id: 695;1678
Gene Symbol: BTK;TIMM8A
BTK;TIMM8A
CUI: C0221026
Disease:
X-linked agammaglobulinemia 		0.800 GeneticVariation UNIPROT DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia. 7711734 1995
dbSNP: rs128622212
rs128622212
Entrez Id: 695;1678
Gene Symbol: BTK;TIMM8A
BTK;TIMM8A
CUI: C0221026
Disease:
X-linked agammaglobulinemia 		0.800 GeneticVariation UNIPROT Identification of Btk mutations in 20 unrelated patients with X-linked agammaglobulinaemia (XLA). 7633420 1995
dbSNP: rs128622212
rs128622212
Entrez Id: 695;1678
Gene Symbol: BTK;TIMM8A
BTK;TIMM8A
CUI: C0221026
Disease:
X-linked agammaglobulinemia 		0.800 GeneticVariation UNIPROT A new point mutation involving a highly conserved leucine in the Btk SH2 domain in a family with X linked agammaglobulinaemia. 7897635 1995
dbSNP: rs128622212
rs128622212
Entrez Id: 695;1678
Gene Symbol: BTK;TIMM8A
BTK;TIMM8A
CUI: C0221026
Disease:
X-linked agammaglobulinemia 		0.800 GeneticVariation UNIPROT Structural basis for pleckstrin homology domain mutations in X-linked agammaglobulinemia. 7849006 1995
dbSNP: rs128622212
rs128622212
Entrez Id: 695;1678
Gene Symbol: BTK;TIMM8A
BTK;TIMM8A
CUI: C0221026
Disease:
X-linked agammaglobulinemia 		0.800 GeneticVariation UNIPROT Characterization of germline mutations of the gene encoding Bruton's tyrosine kinase in families with X-linked agammaglobulinemia. 7627183 1995
dbSNP: rs128622212
rs128622212
Entrez Id: 695;1678
Gene Symbol: BTK;TIMM8A
BTK;TIMM8A
CUI: C0221026
Disease:
X-linked agammaglobulinemia 		0.800 GeneticVariation UNIPROT An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency. 8013627 1994
dbSNP: rs128622212
rs128622212
Entrez Id: 695;1678
Gene Symbol: BTK;TIMM8A
BTK;TIMM8A
CUI: C0221026
Disease:
X-linked agammaglobulinemia 		0.800 GeneticVariation UNIPROT Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase. 7849697 1994
dbSNP: rs128622212
rs128622212
Entrez Id: 695;1678
Gene Symbol: BTK;TIMM8A
BTK;TIMM8A
CUI: C0221026
Disease:
X-linked agammaglobulinemia 		0.800 GeneticVariation UNIPROT Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families. 7849721 1994
dbSNP: rs128622212
rs128622212
Entrez Id: 695;1678
Gene Symbol: BTK;TIMM8A
BTK;TIMM8A
CUI: C0221026
Disease:
X-linked agammaglobulinemia 		G 0.800 CausalMutation CLINVAR