EPHB1, EPH receptor B1, 2047

N. diseases: 169; N. variants: 17
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10935143
rs10935143
Entrez Id: 2047
Gene Symbol: EPHB1
EPHB1
CUI: C1305855
Disease:
Body mass index
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs11918092
rs11918092
Entrez Id: 2047
Gene Symbol: EPHB1
EPHB1
CUI: C4721579
Disease:
Secondary malignant neoplasm of colon and/or rectum
C 0.700 GeneticVariation GWASCAT A genome-wide association study identifies single nucleotide polymorphisms associated with time-to-metastasis in colorectal cancer. 30738427 2019
dbSNP: rs6775611
rs6775611
Entrez Id: 2047;80254;339855
Gene Symbol: EPHB1;CEP63;KY
EPHB1;CEP63;KY
CUI: C0042834
Disease:
Vital capacity
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs9851441
rs9851441
Entrez Id: 2047;80254
Gene Symbol: EPHB1;CEP63
EPHB1;CEP63
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs114807680
rs114807680
Entrez Id: 2047
Gene Symbol: EPHB1
EPHB1
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
A 0.700 GeneticVariation GWASCAT Genome-wide association study of familial lung cancer. 29924316 2018
dbSNP: rs1085307110
rs1085307110
Entrez Id: 2047;80254;339855
Gene Symbol: EPHB1;CEP63;KY
EPHB1;CEP63;KY
CUI: C0037773
Disease:
Spastic Paraplegia, Hereditary
CATGTCGATAGATACAGCACATGTCGATA 0.700 CausalMutation CLINVAR Progressive hereditary spastic paraplegia caused by a homozygous KY mutation. 28488683 2017
dbSNP: rs1085307110
rs1085307110
Entrez Id: 2047;80254;339855
Gene Symbol: EPHB1;CEP63;KY
EPHB1;CEP63;KY
CUI: C0037771
Disease:
Paraparesis, Spastic
CATGTCGATAGATACAGCACATGTCGATA 0.700 CausalMutation CLINVAR Progressive hereditary spastic paraplegia caused by a homozygous KY mutation. 28488683 2017
dbSNP: rs1085307110
rs1085307110
Entrez Id: 2047;80254;339855
Gene Symbol: EPHB1;CEP63;KY
EPHB1;CEP63;KY
CUI: C0037772
Disease:
Spastic Paraplegia
CATGTCGATAGATACAGCACATGTCGATA 0.700 CausalMutation CLINVAR Progressive hereditary spastic paraplegia caused by a homozygous KY mutation. 28488683 2017
dbSNP: rs183252871
rs183252871
Entrez Id: 2047
Gene Symbol: EPHB1
EPHB1
CUI: C0700379
Disease:
Total iron binding capacity function
T 0.700 GeneticVariation GWASCAT Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? 28334935 2017
dbSNP: rs183252871
rs183252871
Entrez Id: 2047
Gene Symbol: EPHB1
EPHB1
CUI: C1283048
Disease:
Iron binding capacity total measurement
T 0.700 GeneticVariation GWASCAT Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? 28334935 2017
dbSNP: rs187472012
rs187472012
Entrez Id: 2047
Gene Symbol: EPHB1
EPHB1
CUI: C1283048
Disease:
Iron binding capacity total measurement
A 0.700 GeneticVariation GWASCAT Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? 28334935 2017
dbSNP: rs187472012
rs187472012
Entrez Id: 2047
Gene Symbol: EPHB1
EPHB1
CUI: C0700379
Disease:
Total iron binding capacity function
A 0.700 GeneticVariation GWASCAT Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? 28334935 2017
dbSNP: rs775009958
rs775009958
Entrez Id: 2047;80254
Gene Symbol: EPHB1;CEP63
EPHB1;CEP63
CUI: C0205682
Disease:
Waist-Hip Ratio
T 0.700 GeneticVariation GWASCAT Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. 28552196 2017
dbSNP: rs62270313
rs62270313
Entrez Id: 2047
Gene Symbol: EPHB1
EPHB1
CUI: C0423791
Disease:
Maculopapular Lesion
0.700 GeneticVariation GWASCAT GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy. 26220383 2015
dbSNP: rs62270313
rs62270313
Entrez Id: 2047
Gene Symbol: EPHB1
EPHB1
CUI: C0014544
Disease:
Epilepsy
0.700 GeneticVariation GWASCAT GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy. 26220383 2015
dbSNP: rs16842236
rs16842236
Entrez Id: 2047
Gene Symbol: EPHB1
EPHB1
CUI: C0027404
Disease:
Narcolepsy
0.700 GeneticVariation GWASDB Genome-wide association database developed in the Japanese Integrated Database Project. 19629137 2009
dbSNP: rs1338928289
rs1338928289
Entrez Id: 2047
Gene Symbol: EPHB1
EPHB1
CUI: C0278701
Disease:
Gastric Adenocarcinoma
0.700 GeneticVariation UNIPROT
dbSNP: rs377332009
rs377332009
Entrez Id: 2047;80254;339855
Gene Symbol: EPHB1;CEP63;KY
EPHB1;CEP63;KY
CUI: C4310711
Disease:
MYOPATHY, MYOFIBRILLAR, 7
T 0.700 CausalMutation CLINVAR
dbSNP: rs886037917
rs886037917
Entrez Id: 2047;80254;339855
Gene Symbol: EPHB1;CEP63;KY
EPHB1;CEP63;KY
CUI: C4310711
Disease:
MYOPATHY, MYOFIBRILLAR, 7
T 0.700 CausalMutation CLINVAR
dbSNP: rs11918092
rs11918092
Entrez Id: 2047
Gene Symbol: EPHB1
EPHB1
CUI: C0036341
Disease:
Schizophrenia
0.010 GeneticVariation BEFREE Association of EPHB1 rs11918092 and EFNB2 rs9520087 with psychopathological symptoms of schizophrenia in Chinese Zhuang and Han populations. 27028544 2016
dbSNP: rs966513
rs966513
Entrez Id: 2047;102724019
Gene Symbol: EPHB1;LOC102724019
EPHB1;LOC102724019
CUI: C0238463
Disease:
Papillary thyroid carcinoma
0.010 GeneticVariation BEFREE In a multicenter retrospective case-control study, five thyroid cancer-related SNPs-rs966513 (9q22.33, FOXE1), rs944289 (14q13.3, PTCSC3), rs2439302 (8p12, NRG1), rs1867277 (9q22.23, FOXE1), and rs6983267 (8q24, POU5F1B)-were genotyped in 959 cases of histologically verified FA, 535 papillary thyroid carcinomas (PTC), and 2766 population controls. 25562676 2015
dbSNP: rs2030737
rs2030737
Entrez Id: 2047
Gene Symbol: EPHB1
EPHB1
CUI: C0030567
Disease:
Parkinson Disease
0.010 GeneticVariation BEFREE The DCC rs17468382 and EPHB1 rs2030737 SNPs may be associated with increased PD risk, and the CHP rs6492998 and RRAS2 rs2970332 SNPs may be associated with reduced PD risk. 21085126 2011
dbSNP: rs6766459
rs6766459
Entrez Id: 2047
Gene Symbol: EPHB1
EPHB1
CUI: C2239176
Disease:
Liver carcinoma
0.010 GeneticVariation BEFREE Five polymorphisms (rs11929692, rs7644369, rs6776570, rs3821502, and rs6766459) of the EPHB1 gene and alleles of 2 polymorphisms (rs1502174 and rs9877457) were associated with HCC (p < 0.05 for both). 21763378 2011