CONE-ROD DYSTROPHY 10
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases.
|
16199541 |
2006 |
RETINITIS PIGMENTOSA 35
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases.
|
16199541 |
2006 |
RETINITIS PIGMENTOSA 35
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
SEMA4A mutations lead to susceptibility to light irradiation, oxidative stress, and ER stress in retinal pigment epithelial cells.
|
22956603 |
2012 |
Disorder of eye
|
0.310 |
GeneticVariation
|
group |
BEFREE |
To investigate its association with human retinal degeneration, mutation screening of the SEMA4A gene was carried out on 190 unrelated patients suffering from a variety of eye diseases.
|
16199541 |
2006 |
Retinitis Pigmentosa
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
We report the first observation of the involvement of SEMA4A gene mutations causing retinitis pigmentosa (RP) and cone rod dystrophy (CRD).
|
16199541 |
2006 |
Cone-Rod Dystrophy 2
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
We report the first observation of the involvement of SEMA4A gene mutations causing retinitis pigmentosa (RP) and cone rod dystrophy (CRD).
|
16199541 |
2006 |
Familial Colorectal Cancer Type X
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
Our study shows previously unidentified germline variants in SEMA4A predisposing to FCCTX, which has implications for surveillance strategies of patients and their families.
|
25307848 |
2014 |
Blindness
|
0.110 |
GeneticVariation
|
phenotype |
BEFREE |
On variants and disease-causing mutations: Case studies of a SEMA4A variant identified in inherited blindness.
|
28805479 |
2018 |
Systolic Pressure
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.
|
30224653 |
2018 |
Autosomal dominant retinitis pigmentosa
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The p.R713Q variant in SEMA4A is insufficient to cause either autosomal recessive or autosomal dominant retinitis pigmentosa and is unlikely to be pathogenic.
|
28805479 |
2018 |
Photoreceptor degeneration
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, Sema4A gene transfer successfully prevents photoreceptor degeneration in Sema4A(F350C/F350C) and Sema4A(-/-) mice.
|
23360997 |
2013 |
CONE-ROD DYSTROPHY 10
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
CONE-ROD DYSTROPHY 10
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases.
|
16199541 |
2006 |
CONE-ROD DYSTROPHY 10
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
RETINITIS PIGMENTOSA 35
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
RETINITIS PIGMENTOSA 35
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases.
|
16199541 |
2006 |
RETINITIS PIGMENTOSA 35
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Disorder of eye
|
0.310 |
Biomarker
|
group |
GENOMICS_ENGLAND |
|
|
|
Disorder of eye
|
0.310 |
Biomarker
|
group |
GENOMICS_ENGLAND |
|
|
|
Disorder of eye
|
0.310 |
Biomarker
|
group |
GENOMICS_ENGLAND |
To investigate its association with human retinal degeneration, mutation screening of the SEMA4A gene was carried out on 190 unrelated patients suffering from a variety of eye diseases.
|
16199541 |
2006 |
Retinitis Pigmentosa
|
0.310 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
We report the first observation of the involvement of SEMA4A gene mutations causing retinitis pigmentosa (RP) and cone rod dystrophy (CRD).
|
16199541 |
2006 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.300 |
Biomarker
|
group |
CLINGEN |
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.
|
27476653 |
2016 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.300 |
Biomarker
|
group |
CLINGEN |
Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X.
|
25307848 |
2014 |
Hereditary non-polyposis colorectal cancer syndrome
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X.
|
25307848 |
2014 |
Hereditary non-polyposis colorectal cancer syndrome
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.
|
27476653 |
2016 |