PDLIM5, PDZ and LIM domain 5, 10611

N. diseases: 148; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.220 Biomarker group MGD
CUI: C0023418
Disease: leukemia
leukemia 		0.040 GeneticVariation disease BEFREE TTG-2, a new gene encoding a cysteine-rich protein with the LIM motif, is overexpressed in acute T-cell leukaemia with the t(11;14)(p13;q11). 1923511 1991
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.020 AlteredExpression disease BEFREE hLH-2, a transcription factor that contains double cysteine rich regions (LIM motifs) and a homeobox (Hox) DNA-binding domain shows aberrant high expression in all cases of chronic myelogenous leukemia (CML). 7600533 1995
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.020 GeneticVariation disease BEFREE Characterization of the LIM/homeodomain gene islet-1 and single nucleotide screening in NIDDM. 7789634 1995
CUI: C0023493
Disease: Adult T-Cell Lymphoma/Leukemia
Adult T-Cell Lymphoma/Leukemia 		0.010 Biomarker disease BEFREE Specific in vivo association between the bHLH and LIM proteins implicated in human T cell leukemia. 7957052 1994
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		0.060 Biomarker disease BEFREE Chromosomal translocations in T-cell acute leukemias can activate genes encoding putative transcription factors such as the LIM proteins RBTN1 and RBTN2 and the DNA-binding basic helix-loop-helix transcription factor TAL1 associated with T-cell acute lymphocytic leukemia. 8078932 1994
CUI: C0023418
Disease: leukemia
leukemia 		0.040 GeneticVariation disease BEFREE The fact that LIM domains can be found with or without associated homeodomain led to the suggestion that the LIM domains may function as regulators of transcription, and that alterations of transcription networks, after chromosomal translocations, lead to leukaemia. 8142620 1993
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.020 GeneticVariation disease BEFREE Molecular analysis of a small hemizygous deletion in a patient with partial Williams syndrome suggests that loss of the LIM-Kinase1 gene may be responsible for the impaired visuospatial constructive cognition characteristic of the syndrome. 8939595 1996
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.010 GeneticVariation disease BEFREE Molecular analysis of a small hemizygous deletion in a patient with partial Williams syndrome suggests that loss of the LIM-Kinase1 gene may be responsible for the impaired visuospatial constructive cognition characteristic of the syndrome. 8939595 1996
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.020 AlteredExpression disease BEFREE Transcriptional activation of human LIM-HOX gene hLH-2 in chronic myelogenous leukemia is due to a cis-acting effect of Bcr-Abl. 9175786 1997
CUI: C1863727
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		0.010 AlteredExpression disease BEFREE Transcriptional activation of human LIM-HOX gene hLH-2 in chronic myelogenous leukemia is due to a cis-acting effect of Bcr-Abl. 9175786 1997
CUI: C0035078
Disease: Kidney Failure
Kidney Failure 		0.010 GeneticVariation disease BEFREE Furthermore, we provide evidence for the first described mutations in a LIM-homeodomain protein which account for an inherited form of abnormal skeletal patterning and renal failure. 9590287 1998
CUI: C0027341
Disease: Nail-Patella Syndrome
Nail-Patella Syndrome 		0.030 AlteredExpression disease BEFREE Recently, LMX1B , a transcription factor of the LIM-homeodomain type with homologs that are important for limb development in vertebrates, was mapped to the same general location as NPS at 9q34. 9618165 1998
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		0.060 AlteredExpression disease BEFREE TAL1 and LIM-only proteins synergistically induce retinaldehyde dehydrogenase 2 expression in T-cell acute lymphoblastic leukemia by acting as cofactors for GATA3. 9819382 1998
CUI: C0027341
Disease: Nail-Patella Syndrome
Nail-Patella Syndrome 		0.030 GeneticVariation disease BEFREE Recent evidence shows that NPS is the result of mutations in the LIM-homeodomain gene LMX1B. 9837817 1998
CUI: C0030354
Disease: Papilloma
Papilloma 		0.010 Biomarker disease BEFREE Paxillin is a 68 kDa focal adhesion protein, with four tandem LIM domains at the C-terminus, involved in growth factor receptor, integrin and oncogenic signaling such as v-src, BCR/ABL, and E6 of the papilloma virus. 9926921 1999
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.020 GeneticVariation disease BEFREE The syndrome is inherited in an autosomal dominant manner and has been shown to result from mutations in the LIM-homeodomain encoding LMX1B gene. 10571942 1999
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.100 Biomarker phenotype BEFREE Because of its high levels of expression in neoplastic tissues and the presence of both PDZ and LIM domains, we suggest that PCD1 may play an important role in cytoskeletal reorganization during carcinogenesis. 11016661 2000
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.040 Biomarker disease BEFREE LIM 1215 colon cancer cells are therefore IGF-responsive but IGF-II is not a major autocrine factor for these cells in monolayer, suggesting heterogeneity between colon carcinoma cell lines with respect to the role of the IGF system. 11306178 2001
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.030 Biomarker disease BEFREE LIM 1215 colon cancer cells are therefore IGF-responsive but IGF-II is not a major autocrine factor for these cells in monolayer, suggesting heterogeneity between colon carcinoma cell lines with respect to the role of the IGF system. 11306178 2001
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 AlteredExpression disease BEFREE The LIM domain gene LMO4 inhibits differentiation of mammary epithelial cells in vitro and is overexpressed in breast cancer. 11734645 2001
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.100 AlteredExpression disease BEFREE The LIM domain gene LMO4 inhibits differentiation of mammary epithelial cells in vitro and is overexpressed in breast cancer. 11734645 2001
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		0.060 AlteredExpression disease BEFREE LMO4 belongs to a family of LIM-only transcriptional regulators, the first two members of which are oncoproteins in acute T cell leukemia. 11734645 2001
CUI: C0023485
Disease: Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma 		0.010 GeneticVariation disease BEFREE A novel chromosomal translocation t(1;14)(q25;q32) in pre-B acute lymphoblastic leukemia involves the LIM homeodomain protein gene, Lhx4. 12118377 2002
CUI: C3896960
Disease: Childhood Pre-B Acute Lymphoblastic Leukemia
Childhood Pre-B Acute Lymphoblastic Leukemia 		0.010 GeneticVariation disease BEFREE A novel chromosomal translocation t(1;14)(q25;q32) in pre-B acute lymphoblastic leukemia involves the LIM homeodomain protein gene, Lhx4. 12118377 2002