CCNH, cyclin H, 902

N. diseases: 83; N. variants: 37
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751544
Disease: BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1 		0.100 CausalMutation disease CLINVAR
CUI: C3838465
Disease: BASAL CELL CARCINOMA, SOMATIC
BASAL CELL CARCINOMA, SOMATIC 		0.100 CausalMutation disease CLINVAR
CUI: C4747394
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 		0.100 CausalMutation disease CLINVAR
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.010 GeneticVariation group BEFREE Facial dysmorphism, clinodactyly of the fifth finger, mental retardation and heart defects are, however, most frequently described, with a high-arched palate, in particular, seen in deletions distal to p34. 1968791 1990
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.310 AlteredExpression group BEFREE Identification of two isoforms of the Cak receptor kinase that are coexpressed in breast tumor cell lines. 8622863 1996
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.010 Biomarker disease BEFREE Here, we show that the phosphorylation observed in RPA p34 after exposure to ionizing radiation, X- or gamma-rays, is reduced and occurs later in primary fibroblasts from patients suffering from ataxia telangiectasia (AT), as compared to normal fibroblasts. 8735493 1996
CUI: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		0.010 Biomarker disease BEFREE Hybrid HBc proteins with N-terminal insertions of human immunodeficiency virus (HIV-1) B- and T-cell epitopes from gp41 and p34 pol, respectively, were constructed HBc hybrids formed particles with HIV-1 epitopes exposed on the surface. 8877417 1996
CUI: C0024198
Disease: Lyme Disease
Lyme Disease 		0.030 Biomarker disease BEFREE The use of in vivo-expressed antigens such as P35 and P37 represents a new approach for Lyme disease serodiagnosis and for understanding the role of B. burgdorferi-specific immune responses in host immunity. 9175831 1997
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE Phosphorylation of the tumor suppressor adenomatous polyposis coli (APC) by the cyclin-dependent kinase p34. 9268294 1997
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		0.010 Biomarker disease BEFREE Phosphorylation of the tumor suppressor adenomatous polyposis coli (APC) by the cyclin-dependent kinase p34. 9268294 1997
CUI: C0024198
Disease: Lyme Disease
Lyme Disease 		0.030 AlteredExpression disease BEFREE These data show that ospA is repressed while p35 and p37 are induced in human infection; these results are the first direct demonstration of differential B. burgdorferi gene expression during Lyme disease. 9806060 1998
CUI: C0014740
Disease: Erythema Chronicum Migrans
Erythema Chronicum Migrans 		0.010 AlteredExpression disease BEFREE Specific B. burgdorferi gene expression during human infection was examined in tissue specimens, using RNA-polymerase chain reaction, from 3 patients with Lyme disease. ospA was investigated because OspA is down-regulated by B. burgdorferi in ticks during engorgement and is a vaccine candidate in phase III clinical trials. p35 and p37 were also assessed because these genes are induced by spirochetes during murine Lyme borreliosis and play roles in protective immunity. p35 and p37 mRNA were detected in erythema migrans biopsy specimens from 2 patients and in the synovium of 1 patient with Lyme arthritis. ospA mRNA was not identified in any of these tissues. 9806060 1998
CUI: C0017677
Disease: Glossitis, Benign Migratory
Glossitis, Benign Migratory 		0.010 AlteredExpression disease BEFREE Specific B. burgdorferi gene expression during human infection was examined in tissue specimens, using RNA-polymerase chain reaction, from 3 patients with Lyme disease. ospA was investigated because OspA is down-regulated by B. burgdorferi in ticks during engorgement and is a vaccine candidate in phase III clinical trials. p35 and p37 were also assessed because these genes are induced by spirochetes during murine Lyme borreliosis and play roles in protective immunity. p35 and p37 mRNA were detected in erythema migrans biopsy specimens from 2 patients and in the synovium of 1 patient with Lyme arthritis. ospA mRNA was not identified in any of these tissues. 9806060 1998
CUI: C0242381
Disease: Lyme Arthritis
Lyme Arthritis 		0.010 AlteredExpression disease BEFREE Specific B. burgdorferi gene expression during human infection was examined in tissue specimens, using RNA-polymerase chain reaction, from 3 patients with Lyme disease. ospA was investigated because OspA is down-regulated by B. burgdorferi in ticks during engorgement and is a vaccine candidate in phase III clinical trials. p35 and p37 were also assessed because these genes are induced by spirochetes during murine Lyme borreliosis and play roles in protective immunity. p35 and p37 mRNA were detected in erythema migrans biopsy specimens from 2 patients and in the synovium of 1 patient with Lyme arthritis. ospA mRNA was not identified in any of these tissues. 9806060 1998
CUI: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack 		0.200 Biomarker disease RGD Molecular cloning of a cell cycle regulation gene cyclin H from ischemic rat brain: expression in neurons after global cerebral ischemia. 10501206 1999
CUI: C0024198
Disease: Lyme Disease
Lyme Disease 		0.030 Biomarker disease BEFREE Recombinant P37 may be a useful component of a set of defined antigens for the serodiagnosis of early Lyme disease. 9986810 1999
CUI: C0024668
Disease: Mammary Neoplasms, Experimental
Mammary Neoplasms, Experimental 		0.500 Biomarker phenotype CTD_human Allelic imbalance and altered expression of genes in chromosome 2q11-2q16 from rat mammary gland carcinomas induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine. 12606953 2003
CUI: C0024668
Disease: Mammary Neoplasms, Experimental
Mammary Neoplasms, Experimental 		0.500 Biomarker phenotype RGD Allelic imbalance and altered expression of genes in chromosome 2q11-2q16 from rat mammary gland carcinomas induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine. 12606953 2003
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.300 Biomarker group CTD_human In addition, the proliferation index in mammary gland carcinomas as assessed by PCNA was found to correlate with the overexpression of Cyclin H by IHC analysis (P<0.05, Spearman Rank Order Correlation). 12606953 2003
CUI: C0024667
Disease: Animal Mammary Neoplasms
Animal Mammary Neoplasms 		0.300 Biomarker phenotype CTD_human Allelic imbalance and altered expression of genes in chromosome 2q11-2q16 from rat mammary gland carcinomas induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine. 12606953 2003
CUI: C0205696
Disease: Anaplastic carcinoma
Anaplastic carcinoma 		0.300 Biomarker disease CTD_human Allelic imbalance and altered expression of genes in chromosome 2q11-2q16 from rat mammary gland carcinomas induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine. 12606953 2003
CUI: C0205697
Disease: Carcinoma, Spindle-Cell
Carcinoma, Spindle-Cell 		0.300 Biomarker disease CTD_human Allelic imbalance and altered expression of genes in chromosome 2q11-2q16 from rat mammary gland carcinomas induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine. 12606953 2003
CUI: C0205698
Disease: Undifferentiated carcinoma
Undifferentiated carcinoma 		0.300 Biomarker disease CTD_human Allelic imbalance and altered expression of genes in chromosome 2q11-2q16 from rat mammary gland carcinomas induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine. 12606953 2003
CUI: C0205699
Disease: Carcinomatosis
Carcinomatosis 		0.300 Biomarker phenotype CTD_human Allelic imbalance and altered expression of genes in chromosome 2q11-2q16 from rat mammary gland carcinomas induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine. 12606953 2003
CUI: C1257925
Disease: Mammary Carcinoma, Animal
Mammary Carcinoma, Animal 		0.300 Biomarker disease CTD_human Allelic imbalance and altered expression of genes in chromosome 2q11-2q16 from rat mammary gland carcinomas induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine. 12606953 2003