Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.300 Biomarker disease CTD_human Gene expression profiles of hepatic cell-type specific marker genes in progression of liver fibrosis. 17072980 2006
CUI: C0033845
Disease: Pseudotumor Cerebri
Pseudotumor Cerebri 		0.100 GeneticVariation disease GWASCAT Genetic Survey of Adult-Onset Idiopathic Intracranial Hypertension. 29608535 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.100 GeneticVariation disease GWASDB Individual common variants exert weak effects on the risk for autism spectrum disorders. 22843504 2012
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.040 Biomarker disease BEFREE In total, 192 serum samples (92 CRC and 100 matched controls) were tested against a panel of 12 tumor-associated antigens (TAAs): RPH3AL, RPL36, SLP2, p53, survivin, ANAXA4, SEC61B, CCCAP, NYCO16, NMDAR, PLSCR1, and HDAC5. 29074220 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.040 GeneticVariation group BEFREE DNA samples were assessed for loss of heterozygosity (LOH) at the 17p13.3 locus of RPH3AL and the 17p13.1 locus of the tumor suppressor, TP53. 26070152 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.040 AlteredExpression group BEFREE Focal amplifications and homozygous deletions comprising well-known oncogenes (MYC, MDM2, PDGFRA, KIT, MCL1, BCL2L1) and tumor suppressors (TP53, RB1, RPH3AL) were identified. 22539591 2012
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.040 Biomarker disease BEFREE Circulating RPH3AL autoantibodies are prevalent in patients with CRC, and detection of these autoantibodies might provide a novel non-invasive approach for CRC diagnosis. 21536019 2011
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.040 GeneticVariation disease BEFREE Since, we observed a higher incidence of a single nucleotide polymorphism (SNP) at the -25 position in the 5'untranslated region (5'UTR-25) of RPH3AL, we performed the genotyping analysis of this SNP in a retrospective CRC cohort (n=134) to assess their clinical importance. 17981610 2008
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.040 Biomarker disease BEFREE The RPH3AL gene may play a role as a tumor-suppressor gene in fraction of colorectal cancers, but a minority show RPH3AL gene mutations. 12375017 2003
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.040 GeneticVariation group BEFREE Somatic RPH3AL mutations were identified, providing support for an authentic role as tumor-suppressor gene in colorectal cancer, but only in a minority of cases. 12375017 2003
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.040 GeneticVariation group BEFREE We determined the exon-intron boundaries of RPH3AL and screened the coding region for mutations by direct sequencing in DNA extracted from 33 tumor samples with allelic loss of 17p13, including 10 medulloblastoma, 14 follicular thyroid cancer (FTC), and 9 ovarian cancer specimens.No mutations were identified. 10395805 1999
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 GeneticVariation phenotype BEFREE Rabphilin-3A-like (RPH3AL) protein functions in the regulation of hormone exocytosis, and mutations in the RPHA3L gene have been associated with tumorigenesis in colorectal cancer (CRC). 21536019 2011
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.020 Biomarker disease BEFREE The RPH3AL, which is located at 17p13, has been identified from a candidate 17p13 medulloblastoma tumor suppressor locus. 12375017 2003
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.020 Biomarker disease BEFREE The RPH3AL, which is located at 17p13, has been identified from a candidate 17p13 medulloblastoma tumor suppressor locus. 12375017 2003
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma 		0.020 Biomarker disease BEFREE The RPH3AL, which is located at 17p13, has been identified from a candidate 17p13 medulloblastoma tumor suppressor locus. 12375017 2003
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.020 Biomarker disease BEFREE Thus, despite its location in a homozygously deleted 17p13.3 locus, it is unlikely that RPH3AL is a gene involved in the oncogenesis of medulloblastoma, FTC, or ovarian cancer. 10395805 1999
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.020 Biomarker disease BEFREE Thus, despite its location in a homozygously deleted 17p13.3 locus, it is unlikely that RPH3AL is a gene involved in the oncogenesis of medulloblastoma, FTC, or ovarian cancer. 10395805 1999
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma 		0.020 Biomarker disease BEFREE Thus, despite its location in a homozygously deleted 17p13.3 locus, it is unlikely that RPH3AL is a gene involved in the oncogenesis of medulloblastoma, FTC, or ovarian cancer. 10395805 1999
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 Biomarker phenotype BEFREE Thus, despite its location in a homozygously deleted 17p13.3 locus, it is unlikely that RPH3AL is a gene involved in the oncogenesis of medulloblastoma, FTC, or ovarian cancer. 10395805 1999
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 GeneticVariation disease BEFREE Thus, genetic alterations in RPH3AL are associated with aggressive behavior of breast cancers and with short survival of patients. 26070152 2015
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 Biomarker disease BEFREE Detection of autoantibodies against Rabphilin-3A-like protein as a potential biomarker in patient's sera of colorectal cancer. 21536019 2011
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.010 GeneticVariation disease BEFREE The recently identified human ortholog of the Rabphillin-3A-Like (RPH3AL) gene, located at the 17p13.3 locus, has been assessed for its mutational status and clinical significance in colorectal adenocarcinoma (CRC). 17981610 2008
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.010 GeneticVariation group LHGDN Mutations of rabphillin-3A-like gene in colorectal cancers. 12375017 2003
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma 		0.010 GeneticVariation disease BEFREE We determined the exon-intron boundaries of RPH3AL and screened the coding region for mutations by direct sequencing in DNA extracted from 33 tumor samples with allelic loss of 17p13, including 10 medulloblastoma, 14 follicular thyroid cancer (FTC), and 9 ovarian cancer specimens.No mutations were identified. 10395805 1999
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.010 Biomarker disease BEFREE Thus, despite its location in a homozygously deleted 17p13.3 locus, it is unlikely that RPH3AL is a gene involved in the oncogenesis of medulloblastoma, FTC, or ovarian cancer. 10395805 1999