H3P10, H3 histone pseudogene 10, 115482713

N. diseases: 769; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.010 GeneticVariation disease BEFREE This locus is closely linked to Huntington disease and has been mapped to chromosome 4 short arm using human-mouse somatic cell hybrids, and specifically to chromosome 4 band p16 using DNA from individuals with deletions of chromosome 4 short arm who exhibit Wolf-Hirschhorn syndrome. 2876628 1986
CUI: C1956097
Disease: Wolf-Hirschhorn Syndrome
Wolf-Hirschhorn Syndrome 		0.010 GeneticVariation disease BEFREE This locus is closely linked to Huntington disease and has been mapped to chromosome 4 short arm using human-mouse somatic cell hybrids, and specifically to chromosome 4 band p16 using DNA from individuals with deletions of chromosome 4 short arm who exhibit Wolf-Hirschhorn syndrome. 2876628 1986
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.100 GeneticVariation group BEFREE These findings suggest that loss or mutations of the p16 gene are involved in most esophageal cancers and that mutation of this gene plays a critical role in the development of esophageal cancer. 8093026 1994
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.100 Biomarker disease BEFREE These data suggest that the target of deletion in glioblastoma multiforme includes both p15 and p16 genes. 7987828 1994
CUI: C0017638
Disease: Glioma
Glioma 		0.100 AlteredExpression disease BEFREE Here we have examined 32 glioma cell lines for amplification-associated overexpression of the CDK4 gene as an alternative mechanism for abrogating the growth-regulatory effects of p16. 7954404 1994
CUI: C0025202
Disease: melanoma
melanoma 		0.100 GeneticVariation disease BEFREE We have also sequenced exon 2 of the recently identified candidate tumour suppressor gene, p16, in six individuals and found no evidence for germline mutations in this region of the p16 gene in our families with inherited malignant melanoma. 7881419 1994
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.100 AlteredExpression phenotype BEFREE The identical nature of mutations observed in primary tumours and metastases derived from the same patient provides strong evidence that inactivation of p16 function was an in vivo event. 8001221 1994
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE Homozygous deletions of p16 were identified in 5 of 23 (22%) primary tumors; no mutations or rearrangements were found in these specimens. 7923195 1994
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.100 GeneticVariation disease BEFREE These findings suggest that loss or mutations of the p16 gene are involved in most esophageal cancers and that mutation of this gene plays a critical role in the development of esophageal cancer. 8093026 1994
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.100 Biomarker disease BEFREE We found that p16 and a neighboring gene, p15, were often homozygously deleted in glioblastoma multiformes but not in medulloblastomas or ependymomas. 7987828 1994
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.100 Biomarker disease BEFREE We found that p16 and a neighboring gene, p15, were often homozygously deleted in glioblastoma multiformes but not in medulloblastomas or ependymomas. 7987828 1994
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		0.100 GeneticVariation disease BEFREE These findings suggest that loss or mutations of the p16 gene are involved in most esophageal cancers and that mutation of this gene plays a critical role in the development of esophageal cancer. 8093026 1994
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.100 GeneticVariation disease BEFREE Germline p16 mutations in familial melanoma. 7987387 1994
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.100 Biomarker disease BEFREE These data suggest that the target of deletion in glioblastoma multiforme includes both p15 and p16 genes. 7987828 1994
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.100 AlteredExpression group BEFREE The identical nature of mutations observed in primary tumours and metastases derived from the same patient provides strong evidence that inactivation of p16 function was an in vivo event. 8001221 1994
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma 		0.060 GeneticVariation disease BEFREE Furthermore, deletions of 9p21-p22 outside of the p16 locus may reflect the involvement of other putative tumor suppressor genes that could also contribute to the pathogenesis of some MMs. 7923195 1994
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.050 Biomarker group BEFREE Deletion of p16 and p15 genes in brain tumors. 7987828 1994
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.040 Biomarker disease BEFREE We found that p16 and a neighboring gene, p15, were often homozygously deleted in glioblastoma multiformes but not in medulloblastomas or ependymomas. 7987828 1994
CUI: C0014474
Disease: Ependymoma
Ependymoma 		0.030 Biomarker disease BEFREE We found that p16 and a neighboring gene, p15, were often homozygously deleted in glioblastoma multiformes but not in medulloblastomas or ependymomas. 7987828 1994
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.100 GeneticVariation group BEFREE The significance of p16 mutations in gastric tumorigenesis was examined by assessing p16 mutations as well as loss of heterozygosity (LOH) on 9p in 13 gastric adenomas and 45 adenocarcinomas. 7775254 1995
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.100 GeneticVariation group BEFREE The p16 coding gene is often mutated in glioblastomas, pancreatic adenocarcinomas and melanoma-prone pedigrees, but, until recently, the significance of these allelic variants has remained unclear. 7566978 1995
CUI: C0001430
Disease: Adenoma
Adenoma 		0.100 GeneticVariation group BEFREE The significance of p16 mutations in gastric tumorigenesis was examined by assessing p16 mutations as well as loss of heterozygosity (LOH) on 9p in 13 gastric adenomas and 45 adenocarcinomas. 7775254 1995
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.100 Biomarker disease BEFREE Genetic evidence in melanoma and bladder cancers that p16 and p53 function in separate pathways of tumor suppression. 7747814 1995
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.100 GeneticVariation disease BEFREE Our results suggested that p16 gene mutations, although they occurred at low frequency, are involved in some low-grade and early stage bladder cancers. 8747595 1995
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.100 GeneticVariation disease BEFREE Alteration of the p16 and p15 genes, especially coincident homozygous deletion, appears to be a common event in bladder cancer. 7563186 1995