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Genetic disease
Search:
Ensembl ID
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ENSG00000100345
MYH9
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Showing 1 to 1 of 1 entries
Open Targets Genetics
Clinvar
Gene Burden
Genomics england panel
Gene2Phenotype
UniProt literature
UniProt variants
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Orphanet
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Disease/phenotype
Publication
Variant ID
P-value
L2G score
Sample size
Mean corpuscular hemoglobin
Kichaev G et al, 2018
22_36362502_A_G (rs136211)
2.000e-40
0.827
443000
Mean corpuscular volume
Chen MH et al, 2020
22_36370436_A_G (rs2413399)
3.800e-38
0.81
544127
Mean corpuscular hemoglobin
Chen MH et al, 2020
22_36378859_C_T (rs755470)
7.080e-37
0.81
486823
Mean reticulocyte volume
Vuckovic D et al, 2020
22_36362502_A_G (rs136211)
7.700e-36
0.801
408112
Mean corpuscular volume
Vuckovic D et al, 2020
22_36372550_A_G (rs2899262)
3.400e-34
0.81
408112
Mean corpuscular hemoglobin
Vuckovic D et al, 2020
22_36378859_C_T (rs755470)
8.200e-34
0.804
408112
Mean spheric corpuscular volume
Vuckovic D et al, 2020
22_36372550_A_G (rs2899262)
3.200e-30
0.805
408112
Heel bone mineral density
Kichaev G et al, 2018
22_36281868_A_G (rs7078)
7.000e-25
0.694
446000
Heel bone mineral density
Kim SK et al, 2018
22_36281868_A_G (rs7078)
2.000e-24
0.694
394929
Mean corpuscular volume
Thompson A et al, 2021
22_36362502_A_G (rs136211)
4.000e-24
0.725
362595
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P-value
Sample size
Mean platelet (thrombocyte) volume
NA
EUR
4.783e-12
383461
Mean platelet (thrombocyte) volume
NA
EUR
5.432e-12
383461
High light scatter reticulocyte count
NA
EUR
4.579e-07
377154
Reticulocyte percentage
NA
EUR
4.949e-07
377154
Reticulocyte percentage
NA
EUR
4.949e-07
377154
Reticulocyte count
NA
EUR
5.278e-07
377154
High light scatter reticulocyte percentage
NA
EUR
5.886e-07
377155
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Disease/phenotype
Allelic Requirement
Genomics England Panel
Confidence category
Literature
, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and platelet disorders
green
3
EPSTEIN SYNDROME
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P
green
1
Epstein syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuric renal disease
green
4
Epstein syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained kidney failure in young people
green
0
Epstein syndrome
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cataracts
green
0
Epstein syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hearing loss
green
40
EPSTEIN SYNDROME
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
green
0
Epstein syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained paediatric onset end-stage renal disease
green
0
FECHTNER SYNDROME
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
green
0
Fechtner syndrome
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cataracts
green
0
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g2p/phenotype
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