G LMNA | |||
Description: lamin A/C Associations 50 Studies 47 |
T level of muscular LMNA-interacting protein in blood serum OBA_2044755 | |||
The amount of a muscular LMNA-interacting protein when measured in blood serum. Associations 0 Studies 1 |
V rs58799304 | |||
Location: 1:156110653 Cytogenetic region:1q22 Most severe consequence: Intron variant Mapped gene(s): LMNA Associations 1 Studies 1 |
V rs116480793 | |||
Location: 1:156108585 Cytogenetic region:1q22 Most severe consequence: Intron variant Mapped gene(s): LMNA Associations 3 Studies 3 |
V rs188625872 | |||
Location: 1:156114696 Cytogenetic region:1q22 Most severe consequence: Splice polypyrimidine tract variant Mapped gene(s): LMNA Associations 1 Studies 1 |
V rs112941217 | |||
Location: 1:156087626 Cytogenetic region:1q22 Most severe consequence: Intergenic variant Mapped gene(s): LMNA Associations 1 Studies 1 |
V rs584025 | |||
Location: 1:156118735 Cytogenetic region:1q22 Most severe consequence: Intron variant Mapped gene(s): LMNA Associations 1 Studies 1 |
V rs505058 | |||
Location: 1:156136394 Cytogenetic region:1q22 Most severe consequence: Missense variant Mapped gene(s): LMNA Associations 4 Studies 4 |
V rs7542186 | |||
Location: 1:156091431 Cytogenetic region:1q22 Most severe consequence: Intergenic variant Mapped gene(s): LMNA Associations 2 Studies 2 |
V rs2485662 | |||
Location: 1:156113677 Cytogenetic region:1q22 Most severe consequence: Intron variant Mapped gene(s): LMNA Associations 4 Studies 3 |
V rs501791 | |||
Location: 1:156120082 Cytogenetic region:1q22 Most severe consequence: Intron variant Mapped gene(s): LMNA Associations 2 Studies 2 |
V rs675661 | |||
Location: 1:156117415 Cytogenetic region:1q22 Most severe consequence: Intron variant Mapped gene(s): LMNA Associations 2 Studies 2 |
V rs138554234 | |||
Location: 1:156119243 Cytogenetic region:1q22 Most severe consequence: Intron variant Mapped gene(s): LMNA Associations 1 Studies 1 |
V rs116251020 | |||
Location: 1:156121642 Cytogenetic region:1q22 Most severe consequence: Intron variant Mapped gene(s): LMNA Associations 1 Studies 1 |
V rs12131777 | |||
Location: 1:156111681 Cytogenetic region:1q22 Most severe consequence: Intron variant Mapped gene(s): LMNA Associations 1 Studies 1 |
V rs569025 | |||
Location: 1:156134206 Cytogenetic region:1q22 Most severe consequence: Intron variant Mapped gene(s): LMNA Associations 3 Studies 3 |
V rs4641 | |||
Location: 1:156137743 Cytogenetic region:1q22 Most severe consequence: Splice region variant Mapped gene(s): LMNA Associations 1 Studies 1 |
V rs547915 | |||
Location: 1:156115584 Cytogenetic region:1q22 Most severe consequence: Intron variant Mapped gene(s): LMNA Associations 2 Studies 2 |
V rs6661281 | |||
Location: 1:156105054 Cytogenetic region:1q22 Most severe consequence: Intron variant Mapped gene(s): LMNA Associations 2 Studies 2 |
V rs10737170 | |||
Location: 1:156094089 Cytogenetic region:1q22 Most severe consequence: Intergenic variant Mapped gene(s): LMNA Associations 1 Studies 1 |
V rs513043 | |||
Location: 1:156129878 Cytogenetic region:1q22 Most severe consequence: Intron variant Mapped gene(s): LMNA Associations 1 Studies 1 |
V rs577492 | |||
Location: 1:156130948 Cytogenetic region:1q22 Most severe consequence: Intron variant Mapped gene(s): LMNA Associations 1 Studies 1 |
V rs553016 | |||
Location: 1:156137072 Cytogenetic region:1q22 Most severe consequence: Intron variant Mapped gene(s): LMNA Associations 1 Studies 1 |
V rs594028 | |||
Location: 1:156126626 Cytogenetic region:1q22 Most severe consequence: Intron variant Mapped gene(s): LMNA Associations 1 Studies 1 |
V rs11578696 | |||
Location: 1:156087177 Cytogenetic region:1q22 Most severe consequence: Intergenic variant Mapped gene(s): LMNA Associations 2 Studies 2 |
V rs536857 | |||
Location: 1:156141496 Cytogenetic region:1q22 Most severe consequence: Intergenic variant Mapped gene(s): SEMA4A,LMNA Associations 2 Studies 2 |
V rs78261031 | |||
Location: 1:156142679 Cytogenetic region:1q22 Most severe consequence: Intergenic variant Mapped gene(s): SEMA4A,LMNA Associations 1 Studies 1 |
V rs200317083 (rs535843454) | |||
Location: 1:156139304 Cytogenetic region:1q22 Most severe consequence: 3 prime utr variant Mapped gene(s): LMNA Associations 1 Studies 1 |
V rs568036 | |||
Location: 1:156140375 Cytogenetic region:1q22 Most severe consequence: Intergenic variant Mapped gene(s): SEMA4A,LMNA Associations 3 Studies 3 |
V rs568035 | |||
Location: 1:156140376 Cytogenetic region:1q22 Most severe consequence: Intergenic variant Mapped gene(s): SEMA4A,LMNA Associations 2 Studies 2 |
V rs11264447 | |||
Location: 1:156142631 Cytogenetic region:1q22 Most severe consequence: Intergenic variant Mapped gene(s): SEMA4A,LMNA Associations 1 Studies 1 |
V rs545731 | |||
Location: 1:156141499 Cytogenetic region:1q22 Most severe consequence: Intergenic variant Mapped gene(s): SEMA4A,LMNA Associations 1 Studies 1 |
G MLIP | |||
Description: muscular LMNA interacting protein Associations 66 Studies 65 |
T dilated cardiomyopathy EFO_0000407 | |||
A form of CARDIAC MUSCLE disease that is characterized by ventricular dilation, VENTRICULAR DYSFUNCTION, and HEART FAILURE. Risk factors include SMOKING; ALCOHOL DRINKING; HYPERTENSION; INFECTION; PRE... GNANCY; and mutations in the LMNA gene encoding LAMIN TYPE A, a NUCLEAR LAMINA protein.An intrinsic cardiomyopathy that results in damage to the myocardium causing the heart to pump blood inefficiently.Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure.decreased function of the heart associated with cardiac enlargement and congestive heart failure Show more > Associations 66 Studies 12 |
T protein measurement EFO_0004747 | |||
Is a quantification of some protein, typically obtained from an individual with the intention of using the measurement in some diagnostic process.This is a general class for any measurement of a prote... in. Do not annotate to this class, request a more specific child term. Show more > Associations 21785 Studies 3017 |