Human Phenotype Ontology (HPO) gene set. This set contains genes that have been annotated to the HPO term "Focal T2 hyperintense brainstem lesion", which is defined as "A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem." This gene set was automatically constructed using annotation and ontology data provided by HPO and includes gene-phenotypes annotations from all HPO sources. The transitive closure of this term is taken into account using is_a relationships. For more information: The Human Phenotype Ontology Consortium (HPOC), http://human-phenotype-ontology.org This gene set was generated using the GeneWeaver HPO loader v. 0.1.5, HPO OBO v. hp/releases/2020-03-27, and HPO Genes to Phenotypes (all sources, all frequencies) v. 2020.05.06.
Authors:
S Köhler, SC Doelken, CJ Mungall, S Bauer, HV Firth, I Bailleul-Forestier, GC Black, DL Brown, M Brudno, J Campbell, DR FitzPatrick, JT Eppig, AP Jackson, K Freson, M Girdea, I Helbig, JA Hurst, J Jähn, LG Jackson, AM Kelly, DH Ledbetter, S Mansour, CL Martin, C Moss, A Mumford, WH Ouwehand, SM Park, ER Riggs, RH Scott, S Sisodiya, S Van Vooren, RJ Wapner, AO Wilkie, CF Wright, AT Vulto-van Silfhout, N de Leeuw, BB de Vries, NL Washingthon, CL Smith, M Westerfield, P Schofield, BJ Ruef, GV Gkoutos, M Haendel, D Smedley, SE Lewis, PN Robinson
Human Phenotype Ontology (HPO) gene set. This set contains genes that have been annotated to the HPO term "Focal T2 hypointense brainstem lesion", which is defined as "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hypointensity affecting a particular region of the brainstem." This gene set was automatically constructed using annotation and ontology data provided by HPO and includes gene-phenotypes annotations from all HPO sources. The transitive closure of this term is taken into account using is_a relationships. For more information: The Human Phenotype Ontology Consortium (HPOC), http://human-phenotype-ontology.org This gene set was generated using the GeneWeaver HPO loader v. 0.1.5, HPO OBO v. hp/releases/2020-03-27, and HPO Genes to Phenotypes (all sources, all frequencies) v. 2020.05.06.
Authors:
S Köhler, SC Doelken, CJ Mungall, S Bauer, HV Firth, I Bailleul-Forestier, GC Black, DL Brown, M Brudno, J Campbell, DR FitzPatrick, JT Eppig, AP Jackson, K Freson, M Girdea, I Helbig, JA Hurst, J Jähn, LG Jackson, AM Kelly, DH Ledbetter, S Mansour, CL Martin, C Moss, A Mumford, WH Ouwehand, SM Park, ER Riggs, RH Scott, S Sisodiya, S Van Vooren, RJ Wapner, AO Wilkie, CF Wright, AT Vulto-van Silfhout, N de Leeuw, BB de Vries, NL Washingthon, CL Smith, M Westerfield, P Schofield, BJ Ruef, GV Gkoutos, M Haendel, D Smedley, SE Lewis, PN Robinson
Human Phenotype Ontology (HPO) gene set. This set contains genes that have been annotated to the HPO term "Focal T2 hypointense thalamic lesion", which is defined as "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hypointensity affecting a particular region of the thalamus." This gene set was automatically constructed using annotation and ontology data provided by HPO and includes gene-phenotypes annotations from all HPO sources. The transitive closure of this term is taken into account using is_a relationships. For more information: The Human Phenotype Ontology Consortium (HPOC), http://human-phenotype-ontology.org This gene set was generated using the GeneWeaver HPO loader v. 0.1.5, HPO OBO v. hp/releases/2020-03-27, and HPO Genes to Phenotypes (all sources, all frequencies) v. 2020.05.06.
Authors:
S Köhler, SC Doelken, CJ Mungall, S Bauer, HV Firth, I Bailleul-Forestier, GC Black, DL Brown, M Brudno, J Campbell, DR FitzPatrick, JT Eppig, AP Jackson, K Freson, M Girdea, I Helbig, JA Hurst, J Jähn, LG Jackson, AM Kelly, DH Ledbetter, S Mansour, CL Martin, C Moss, A Mumford, WH Ouwehand, SM Park, ER Riggs, RH Scott, S Sisodiya, S Van Vooren, RJ Wapner, AO Wilkie, CF Wright, AT Vulto-van Silfhout, N de Leeuw, BB de Vries, NL Washingthon, CL Smith, M Westerfield, P Schofield, BJ Ruef, GV Gkoutos, M Haendel, D Smedley, SE Lewis, PN Robinson
Human Phenotype Ontology (HPO) gene set. This set contains genes that have been annotated to the HPO term "Focal T2 hypointense basal ganglia lesion", which is defined as "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hypointensity affecting a particular region of the basal ganglia." This gene set was automatically constructed using annotation and ontology data provided by HPO and includes gene-phenotypes annotations from all HPO sources. The transitive closure of this term is taken into account using is_a relationships. For more information: The Human Phenotype Ontology Consortium (HPOC), http://human-phenotype-ontology.org This gene set was generated using the GeneWeaver HPO loader v. 0.1.5, HPO OBO v. hp/releases/2020-03-27, and HPO Genes to Phenotypes (all sources, all frequencies) v. 2020.05.06.
Authors:
S Köhler, SC Doelken, CJ Mungall, S Bauer, HV Firth, I Bailleul-Forestier, GC Black, DL Brown, M Brudno, J Campbell, DR FitzPatrick, JT Eppig, AP Jackson, K Freson, M Girdea, I Helbig, JA Hurst, J Jähn, LG Jackson, AM Kelly, DH Ledbetter, S Mansour, CL Martin, C Moss, A Mumford, WH Ouwehand, SM Park, ER Riggs, RH Scott, S Sisodiya, S Van Vooren, RJ Wapner, AO Wilkie, CF Wright, AT Vulto-van Silfhout, N de Leeuw, BB de Vries, NL Washingthon, CL Smith, M Westerfield, P Schofield, BJ Ruef, GV Gkoutos, M Haendel, D Smedley, SE Lewis, PN Robinson
Human Phenotype Ontology (HPO) gene set. This set contains genes that have been annotated to the HPO term "Punctate periventricular T2 hyperintense foci", which is defined as "Multiple pointlike areas of high T2 signal observed upon magnetic resonance imaging of the periventricular cerebral white matter." This gene set was automatically constructed using annotation and ontology data provided by HPO and includes gene-phenotypes annotations from all HPO sources. The transitive closure of this term is taken into account using is_a relationships. For more information: The Human Phenotype Ontology Consortium (HPOC), http://human-phenotype-ontology.org This gene set was generated using the GeneWeaver HPO loader v. 0.1.5, HPO OBO v. hp/releases/2020-03-27, and HPO Genes to Phenotypes (all sources, all frequencies) v. 2020.05.06.
Authors:
S Köhler, SC Doelken, CJ Mungall, S Bauer, HV Firth, I Bailleul-Forestier, GC Black, DL Brown, M Brudno, J Campbell, DR FitzPatrick, JT Eppig, AP Jackson, K Freson, M Girdea, I Helbig, JA Hurst, J Jähn, LG Jackson, AM Kelly, DH Ledbetter, S Mansour, CL Martin, C Moss, A Mumford, WH Ouwehand, SM Park, ER Riggs, RH Scott, S Sisodiya, S Van Vooren, RJ Wapner, AO Wilkie, CF Wright, AT Vulto-van Silfhout, N de Leeuw, BB de Vries, NL Washingthon, CL Smith, M Westerfield, P Schofield, BJ Ruef, GV Gkoutos, M Haendel, D Smedley, SE Lewis, PN Robinson
Human Phenotype Ontology (HPO) gene set. This set contains genes that have been annotated to the HPO term "Focal T2 hyperintense basal ganglia lesion", which is defined as "A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia." This gene set was automatically constructed using annotation and ontology data provided by HPO and includes gene-phenotypes annotations from all HPO sources. The transitive closure of this term is taken into account using is_a relationships. For more information: The Human Phenotype Ontology Consortium (HPOC), http://human-phenotype-ontology.org This gene set was generated using the GeneWeaver HPO loader v. 0.1.5, HPO OBO v. hp/releases/2020-03-27, and HPO Genes to Phenotypes (all sources, all frequencies) v. 2020.05.06.
Authors:
S Köhler, SC Doelken, CJ Mungall, S Bauer, HV Firth, I Bailleul-Forestier, GC Black, DL Brown, M Brudno, J Campbell, DR FitzPatrick, JT Eppig, AP Jackson, K Freson, M Girdea, I Helbig, JA Hurst, J Jähn, LG Jackson, AM Kelly, DH Ledbetter, S Mansour, CL Martin, C Moss, A Mumford, WH Ouwehand, SM Park, ER Riggs, RH Scott, S Sisodiya, S Van Vooren, RJ Wapner, AO Wilkie, CF Wright, AT Vulto-van Silfhout, N de Leeuw, BB de Vries, NL Washingthon, CL Smith, M Westerfield, P Schofield, BJ Ruef, GV Gkoutos, M Haendel, D Smedley, SE Lewis, PN Robinson
Human Phenotype Ontology (HPO) gene set. This set contains genes that have been annotated to the HPO term "Striatal T2 hyperintensity", which is defined as "Abnormally bright T2 signal from the striatum on brain magnetic resonance imaging." This gene set was automatically constructed using annotation and ontology data provided by HPO and includes gene-phenotypes annotations from all HPO sources. The transitive closure of this term is taken into account using is_a relationships. For more information: The Human Phenotype Ontology Consortium (HPOC), http://human-phenotype-ontology.org This gene set was generated using the GeneWeaver HPO loader v. 0.1.5, HPO OBO v. hp/releases/2020-03-27, and HPO Genes to Phenotypes (all sources, all frequencies) v. 2020.05.06.
Authors:
S Köhler, SC Doelken, CJ Mungall, S Bauer, HV Firth, I Bailleul-Forestier, GC Black, DL Brown, M Brudno, J Campbell, DR FitzPatrick, JT Eppig, AP Jackson, K Freson, M Girdea, I Helbig, JA Hurst, J Jähn, LG Jackson, AM Kelly, DH Ledbetter, S Mansour, CL Martin, C Moss, A Mumford, WH Ouwehand, SM Park, ER Riggs, RH Scott, S Sisodiya, S Van Vooren, RJ Wapner, AO Wilkie, CF Wright, AT Vulto-van Silfhout, N de Leeuw, BB de Vries, NL Washingthon, CL Smith, M Westerfield, P Schofield, BJ Ruef, GV Gkoutos, M Haendel, D Smedley, SE Lewis, PN Robinson
abnormal transitional stage T2 B cell morphology (MP)
Description:
"any structural anomaly of a type of transitional stage B cell that has the phenotype surface IgM-positive, surface IgD-postive, CD21-positive, CD23-positive, CD62L-negative, and is located in the splenic B follicles" Data derived from MGI_GenePheno.rpt and the MP OBO tree dated 2016-11-07
decreased transitional stage T2 B cell number (MP)
Description:
"reduced number of a type of transitional stage B cell that has the phenotype surface IgM-positive, surface IgD-postive, CD21-positive, CD23-positive, CD62L-negative, and is located in the splenic B follicles" Data derived from MGI_GenePheno.rpt and the MP OBO tree dated 2016-11-07
increased transitional stage T2 B cell number (MP)
Description:
"greater number of a type of a transitional stage B cell that has the phenotype surface IgM-positive, surface IgD-postive, CD21-positive, CD23-positive, CD62L-negative, and is located in the splenic B follicles" Data derived from MGI_GenePheno.rpt and the MP OBO tree dated 2016-11-07
Gene Ontology (GO) gene set. This set contains genes that have been annotated to the GO term "transitional stage B cell differentiation", which is defined as "The process in which immature B cells from the bone marrow become mature B cells in the spleen. Transitional stage B cells are subdivided into transitional one (T1) and transitional two (T2) stages and are short-lived and functionally incompetent." This gene set was automatically constructed using annotation and ontology data provided by GO and only includes annotations with experimental and curatorial evidence codes (EXP, IDA, IPI, IMP, IGI, IEP, TAS, IC). The transitive closure of this term is taken into account using is_a and part_of relationships. For more information: The Gene Ontology Consortium (GOC), http://geneontology.org This gene set was generated using the GeneWeaver GO loader v. 0.2.8.
Authors:
M Ashburner, CA Ball, JA Blake, D Botstein, H Butler, JM Cherry, AP Davis, K Dolinski, SS Dwight, JT Eppig, MA Harris, DP Hill, L Issel-Tarver, A Kasarskis, S Lewis, JC Matese, JE Richardson, M Ringwald, GM Rubin, G Sherlock
Human Phenotype Ontology (HPO) gene set. This set contains genes that have been annotated to the HPO term "Eye of the tiger anomaly of globus pallidus", which is defined as "The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity if the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance." This gene set was automatically constructed using annotation and ontology data provided by HPO and includes gene-phenotypes annotations from all HPO sources. The transitive closure of this term is taken into account using is_a relationships. For more information: The Human Phenotype Ontology Consortium (HPOC), http://human-phenotype-ontology.org This gene set was generated using the GeneWeaver HPO loader v. 0.1.5, HPO OBO v. hp/releases/2020-03-27, and HPO Genes to Phenotypes (all sources, all frequencies) v. 2020.05.06.
Authors:
S Köhler, SC Doelken, CJ Mungall, S Bauer, HV Firth, I Bailleul-Forestier, GC Black, DL Brown, M Brudno, J Campbell, DR FitzPatrick, JT Eppig, AP Jackson, K Freson, M Girdea, I Helbig, JA Hurst, J Jähn, LG Jackson, AM Kelly, DH Ledbetter, S Mansour, CL Martin, C Moss, A Mumford, WH Ouwehand, SM Park, ER Riggs, RH Scott, S Sisodiya, S Van Vooren, RJ Wapner, AO Wilkie, CF Wright, AT Vulto-van Silfhout, N de Leeuw, BB de Vries, NL Washingthon, CL Smith, M Westerfield, P Schofield, BJ Ruef, GV Gkoutos, M Haendel, D Smedley, SE Lewis, PN Robinson
QTL for differences in cocaine responsiveness on Chr11 at D11M!t2 (8.35 Mbp , Build 37)
Description:
differences in cocaine responsiveness spans 0.00 - 33.35 Mbp (NCBI Build 37) on Chr11. This interval was obtained by using an interval width of 25 Mbp around the peak marker (Build 37, MGI, http://informatics.jax.org).
QTL for differences in cocaine responsiveness on Chr12 at D12M!t2 (39.51 Mbp , Build 37)
Description:
differences in cocaine responsiveness spans 14.51 - 64.51 Mbp (NCBI Build 37) on Chr12. This interval was obtained by using an interval width of 25 Mbp around the peak marker (Build 37, MGI, http://informatics.jax.org).
QTL for cocaine induced activation on Chr17 at D17MIT164 (6.59 Mbp , Build 37)
Description:
cocaine induced activation spans 0.00 - 31.59 Mbp (NCBI Build 37) on Chr17. This interval was obtained by using an interval width of 25 Mbp around the peak marker (Build 37, MGI, http://informatics.jax.org).
QTL for ethanol metabolism rate on Chr17 at NA (9.40 Mbp , Build 37)
Description:
ethanol metabolism rate spans 0.00 - 34.40 Mbp (NCBI Build 37) on Chr17. This interval was obtained by using an interval width of 25 Mbp around the peak marker (Build 37, MGI, http://informatics.jax.org).
Authors:
Grisel JE, Metten P, Wenger CD, Merrill CM, Crabbe JC
QTL for METH responses for body temperature on Chr17 at Zfp40 (17.81 Mbp , Build 37)
Description:
METH responses for body temperature spans 0.00 - 42.81 Mbp (NCBI Build 37) on Chr17. This interval was obtained by using an interval width of 25 Mbp around the peak marker (Build 37, MGI, http://informatics.jax.org).
QTL for ethanol conditioned taste aversion on Chr17 at D17Ncvs39 (23.83 Mbp , Build 37)
Description:
ethanol conditioned taste aversion spans 0.00 - 48.83 Mbp (NCBI Build 37) on Chr17. This interval was obtained by using an interval width of 25 Mbp around the peak marker (Build 37, MGI, http://informatics.jax.org).
Chronic cocaine - Cocaine-paired (conditioned place preference) vs. Control (saline or cocaine-non-paired) DNA microarray All genes on microarray presented After the pre-conditioning phase where animals were allowed access to either compartment for 15 minutes for 4 consecutive days, the conditioning phase for the cocaine-paired groups and cocaine non-paired groups began, consisting of eight subsequent daily sessions. For both groups, cocaine (10 mg / kg) or saline injections were administered on alternate days. For the cocaine-paired groups, rats were immediately placed in one of the two compartments for 30 min with the door in place restricting a z transformation followed by z test and anova followed by Student-Newman-Keuls' post hoc test. Gene expression profile was assessed 24 h after the last conditioning session that corresponded to 48 h after last cocaine exposure, when drug has been eliminated from the body and transient transcriptional changes are likely to be minimal. Therefore, changes in gene expression at this time-point are likely to reflect longer lasting adaptations that may account for maintenance of cocaine-induced memories. The complete lists of normalized gene expression values for the hippocampus of saline-treated, cocaine non-paired and cocaine-paired groups are presented. Analyses revealed that 214 transcripts were differentially regulated in the hippocampus of cocaine-paired rats vs. non-paired and saline-treated controls. Cocaine-induced conditioned place preference caused significant increases in the expression of 151 genes and caused decreases in the expression of 63 genes. (NIF Table ID 130.1 [83])
Authors:
Krasnova IN, Li SM, Wood WH, McCoy MT, Prabhu VV, Becker KG, Katz JL, Cadet JL
Chronic cocaine - Cocaine-paired (conditioned place preference) vs. Control (saline or cocaine-non-paired) DNA microarray All genes on microarray presented After the pre-conditioning phase where animals were allowed access to either compartment for 15 minutes for 4 consecutive days, the conditioning phase for the cocaine-paired groups and cocaine non-paired groups began, consisting of eight subsequent daily sessions. For both groups, cocaine (10 mg / kg) or saline injections were administered on alternate days. For the cocaine-paired groups, rats were immediately placed in one of the two compartments for 30 min with the door in place restricting a z transformation followed by z test and anova followed by Student-Newman-Keuls' post hoc test. Gene expression profile was assessed 24 h after the last conditioning session that corresponded to 48 h after last cocaine exposure, when drug has been eliminated from the body and transient transcriptional changes are likely to be minimal. Therefore, changes in gene expression at this time-point are likely to reflect longer lasting adaptations that may account for maintenance of cocaine-induced memories. The complete lists of normalized gene expression values for the frontal cortex of saline-treated, cocaine non-paired and cocaine-paired groups are presented. Differences in the expression of 39 transcripts in the frontal cortex were related to the conditioned place preference paradigm. These include increases in the level of 22 genes and decreases in 17 genes. (NIF Table ID 130.3 [83.5])
Authors:
Krasnova IN, Li SM, Wood WH, McCoy MT, Prabhu VV, Becker KG, Katz JL, Cadet JL
Ethanol Induced Ataxia Chr#17 rs3672987(33247165) with right flanking marker rs4136382(3388912) and left marker rs3715723(58810428). This was mapped in 300 + (b6x129)F2 mice.
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