Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome
0.600 GeneticVariation disease BEFREE Miller-Dieker syndrome (MDS) is caused by a heterozygous deletion of chromosome 17p13.3 involving the genes LIS1 and YWHAE (coding for 14.3.3ε) and leads to malformations during cortical development. 28380362 2017
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome
0.600 Biomarker disease BEFREE 14-3-3ε, encoded by YWHAE, is an adapter protein belonging to the 14-3-3 protein family which plays important roles in neuronal development and is involved in Miller-Dieker syndrome. 23266643 2013
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome
0.600 GeneticVariation disease BEFREE Her facial features are similar to MDS, and she has manifestations seen in other cases with YWHAE duplication. 23633430 2013
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome
0.600 GeneticVariation disease BEFREE In particular, deletion of PAFAH1B1 causes isolated lissencephaly while deletions involving both PAFAH1B1 and YWHAE cause Miller-Dieker syndrome. 23035971 2012
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome
0.600 GeneticVariation disease BEFREE Examination of cerebral spinal fluid in humans suggests that 14-3-3s including 14-3-3ε (YWHAE) are up-regulated in several neurological diseases, and loss or duplication of the YWHAE gene leads to Miller-Dieker syndrome. 22811265 2012
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome
0.600 GeneticVariation disease BEFREE Deletions of the PAFAH1B1 gene (encoding LIS1) in 17p13.3 result in isolated lissencephaly sequence, and extended deletions including the YWHAE gene (encoding 14-3-3epsilon) cause Miller-Dieker syndrome. 19136950 2009
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome
0.600 GeneticVariation disease BEFREE Six different genes could be responsible for this entity (LIS1, DCX, TUBA1A, VLDLR, ARX, RELN), although co-delection of YWHAE gene with LIS1 could result in Miller-Dieker Syndrome. 19120042 2009
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome
0.600 ChromosomalRearrangement disease ORPHANET Point mutations or deletion copy number variants of the PAFAH1B1 gene in this genomic region cause lissencephaly, whereas extended deletions involving both PAFAH1B1 and YWHAE result in Miller-Dieker syndrome characterised by facial dysmorphisms and a more severe grade of lissencephaly. 19584063 2009
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome
0.600 Biomarker disease BEFREE Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. 19584063 2009
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome
0.600 Biomarker disease BEFREE PAFAH1B1/LIS1 and YWHAE, which were deleted in isolated lissencephaly (PAFAH1B1/LIS1 alone) and Miller-Dieker syndrome (both genes), were found to be duplicated in patients with developmental delay. 19287139 2008
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome
0.600 Biomarker disease MGD 14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome. 12796778 2003
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome
0.600 GeneticVariation disease BEFREE We have created a physical map covering approximately 3.5 Mb (6 cM)in this region, spanning the RP13 interval and extending distally to the gene MDCR (formerly, LIS1), which, when deleted, leads to the MDLS phenotype. 10828595 2000
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.450 GeneticVariation disease GWASCAT Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect. 30285260 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.450 GeneticVariation disease GWASCAT Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia. 28991256 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.450 Biomarker disease PSYGENET These results suggest a possible role for the YWHAE genotype in the early development of the OFC sulcogyral pattern, but its effect alone is not likely to explain the altered sulcogyral pattern in schizophrenia. 24561237 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.450 Biomarker disease BEFREE Our results also suggest its specific role among YWHAE SNPs in the pathophysiology of schizophrenia. 25105667 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.450 GeneticVariation disease BEFREE These results suggest a possible role for the YWHAE genotype in the early development of the OFC sulcogyral pattern, but its effect alone is not likely to explain the altered sulcogyral pattern in schizophrenia. 24561237 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.450 Biomarker disease PSYGENET Our results also suggest its specific role among YWHAE SNPs in the pathophysiology of schizophrenia. 25105667 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.450 Biomarker disease PSYGENET In this study, we applied a pooled sample 454 sequencing strategy, to explore the contribution of genetic variation in DISC1 and 10 of its interaction partners (ATF5, Grb2, FEZ1, LIS-1, PDE4B, NDE1, NDEL1, TRAF3IP1, YWHAE, and ZNF365) to schizophrenia susceptibility in an isolated northern Swedish population. 21853134 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.450 Biomarker disease BEFREE Considering the size of our sample sets (power > 90%), our results suggest that the YWHAE does not play a major role in schizophrenia, major depressive disorder or bipolar disorder in the Han Chinese population. 21184166 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.450 Biomarker disease BEFREE In this study, we applied a pooled sample 454 sequencing strategy, to explore the contribution of genetic variation in DISC1 and 10 of its interaction partners (ATF5, Grb2, FEZ1, LIS-1, PDE4B, NDE1, NDEL1, TRAF3IP1, YWHAE, and ZNF365) to schizophrenia susceptibility in an isolated northern Swedish population. 21853134 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.450 Biomarker disease PSYGENET Considering the size of our sample sets (power > 90%), our results suggest that the YWHAE does not play a major role in schizophrenia, major depressive disorder or bipolar disorder in the Han Chinese population. 21184166 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.450 Biomarker disease LHGDN Identification of YWHAE, a gene encoding 14-3-3epsilon, as a possible susceptibility gene for schizophrenia. 18658164 2008
CUI: C0206630
Disease: Endometrial Stromal Sarcoma
Endometrial Stromal Sarcoma
0.400 GeneticVariation disease BEFREE Tumors with YWHAE-NUTM2 fusions and BCOR genetic abnormalities showed morphology characteristic of high-grade endometrial stromal sarcomas. 30789359 2019
CUI: C0206630
Disease: Endometrial Stromal Sarcoma
Endometrial Stromal Sarcoma
0.400 GeneticVariation disease BEFREE In an update based on the 2014 WHO classification, low-grade ESS is often associated with gene rearrangement bringing about the JAZF 1-SUZ12 (formerly JAZF1-JJAZ1) fusion gene, whereas high-grade ESS is associated with the YWHAE-NUTM fusion gene. 29660202 2018