SEMA4A, semaphorin 4A, 64218

N. diseases: 141; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853214
Disease: RETINITIS PIGMENTOSA 35
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
CUI: C1846529
Disease: CONE-ROD DYSTROPHY 10
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
CUI: C1846529
Disease: CONE-ROD DYSTROPHY 10
CONE-ROD DYSTROPHY 10 		0.700 GeneticVariation disease UNIPROT Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases. 16199541 2006
CUI: C1853214
Disease: RETINITIS PIGMENTOSA 35
RETINITIS PIGMENTOSA 35 		0.700 GeneticVariation disease UNIPROT Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases. 16199541 2006
CUI: C1853214
Disease: RETINITIS PIGMENTOSA 35
RETINITIS PIGMENTOSA 35 		0.700 Biomarker disease GENOMICS_ENGLAND Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases. 16199541 2006
CUI: C1846529
Disease: CONE-ROD DYSTROPHY 10
CONE-ROD DYSTROPHY 10 		0.700 Biomarker disease CTD_human
CUI: C1846529
Disease: CONE-ROD DYSTROPHY 10
CONE-ROD DYSTROPHY 10 		0.700 CausalMutation disease CLINVAR
CUI: C1846529
Disease: CONE-ROD DYSTROPHY 10
CONE-ROD DYSTROPHY 10 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1853214
Disease: RETINITIS PIGMENTOSA 35
RETINITIS PIGMENTOSA 35 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1853214
Disease: RETINITIS PIGMENTOSA 35
RETINITIS PIGMENTOSA 35 		0.700 Biomarker disease CTD_human
CUI: C1853214
Disease: RETINITIS PIGMENTOSA 35
RETINITIS PIGMENTOSA 35 		0.700 CausalMutation disease CLINVAR
CUI: C3896578
Disease: Familial Colorectal Cancer Type X
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
CUI: C3896578
Disease: Familial Colorectal Cancer Type X
Familial Colorectal Cancer Type X 		0.310 GermlineCausalMutation disease ORPHANET 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
CUI: C0015397
Disease: Disorder of eye
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
CUI: C0015397
Disease: Disorder of eye
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
CUI: C0035334
Disease: Retinitis Pigmentosa
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
CUI: C0035334
Disease: Retinitis Pigmentosa
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
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
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
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.310 GermlineCausalMutation disease ORPHANET We screened the DNA of 135 patients with RP, 25 patients with CRD, and 30 with LCA using SSCP and direct DNA sequencing for mutations in the SEMA4A gene. 16199541 2006
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.310 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.310 Biomarker group GENOMICS_ENGLAND
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
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
CUI: C1112155
Disease: Hereditary non-polyposis colorectal cancer syndrome
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
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.300 Biomarker disease CLINGEN Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. 27476653 2016
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		0.300 Biomarker disease CLINGEN Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. 27476653 2016