Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1858051
Disease: NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS
NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS 		0.570 GeneticVariation disease BEFREE All NAIC patients are homozygous for a missense mutation (R565W) in CIRH1A, the human homolog of the yeast nucleolar protein Utp4. 24147052 2013
CUI: C1858051
Disease: NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS
NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS 		0.570 Biomarker disease BEFREE Furthermore, these results allow us to propose that NAIC may be caused by dysfunctional pre-ribosome assembly due to the loss of an interaction between the C-terminus of Utp4/Cirhin and another SSU processome protein. 20385600 2010
CUI: C1858051
Disease: NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS
NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS 		0.570 GeneticVariation disease BEFREE Cirhin (NP_116219), the product of the CIRH1A gene is mutated in North American Indian childhood cirrhosis (NAIC/CIRH1A, OMIM 604901), a severe autosomal recessive intrahepatic cholestasis. 16225863 2005
CUI: C1858051
Disease: NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS
NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS 		0.570 GeneticVariation disease BEFREE A CLDN1 mutation was recently reported in patients with ichthyosis, leukocyte vacuoles, alopecia and sclerosing cholangitis (ILVASC), and North American Indian childhood cirrhosis (NAIC) is associated with a missense mutation in CIRH1A. 15768832 2004
CUI: C1858051
Disease: NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS
NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS 		0.570 GermlineCausalMutation disease ORPHANET North American Indian childhood cirrhosis (CIRH1A, or NAIC), a severe autosomal recessive intrahepatic cholestasis described in Ojibway-Cree children from northwestern Quebec, is one of several familial cholestases with unknown molecular etiology. 12417987 2002
CUI: C1858051
Disease: NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS
NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS 		0.570 GeneticVariation disease BEFREE North American Indian childhood cirrhosis (CIRH1A, or NAIC), a severe autosomal recessive intrahepatic cholestasis described in Ojibway-Cree children from northwestern Quebec, is one of several familial cholestases with unknown molecular etiology. 12417987 2002
CUI: C1858051
Disease: NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS
NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS 		0.570 GeneticVariation disease BEFREE North American Indian childhood cirrhosis (NAIC, or CIRH1A) is an isolated nonsyndromic form of familial cholestasis reported in Ojibway-Cree children and young adults in northwestern Quebec. 10820129 2000
CUI: C1858051
Disease: NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS
NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS 		0.570 Biomarker disease BEFREE Together with gene mapping studies showing that the NAIC gene is different from those of other familial cholestases, these observations suggest that NAIC is a distinct entity that could be classified as "progressive familial cholangiopathy." 11045837 2000
CUI: C1858051
Disease: NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS
NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS 		0.570 Biomarker disease GENOMICS_ENGLAND
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
CUI: C0008370
Disease: Cholestasis
Cholestasis 		0.020 Biomarker disease BEFREE North American Indian childhood cirrhosis (NAIC, or CIRH1A) is an isolated nonsyndromic form of familial cholestasis reported in Ojibway-Cree children and young adults in northwestern Quebec. 10820129 2000
CUI: C0008370
Disease: Cholestasis
Cholestasis 		0.020 Biomarker disease BEFREE Together with gene mapping studies showing that the NAIC gene is different from those of other familial cholestases, these observations suggest that NAIC is a distinct entity that could be classified as "progressive familial cholangiopathy." 11045837 2000
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 AlteredExpression group BEFREE We analyzed the expression of the CIRH1A ribosomal protein in colorectal carcinoma and para-carcinoma samples by bioinformatics analyses of data extracted from The Cancer Genome Atlas and in colorectal cancer cell lines in vitro by qPCR. 28350096 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 AlteredExpression disease BEFREE We also transduced the RKO colorectal cancer (CRC) cell line with lentivirus-mediated small interfering RNAs (siRNAs) and studied the impact that this knockdown of CIRH1A expression had on cell growth. 28350096 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 AlteredExpression group BEFREE We analyzed the expression of the CIRH1A ribosomal protein in colorectal carcinoma and para-carcinoma samples by bioinformatics analyses of data extracted from The Cancer Genome Atlas and in colorectal cancer cell lines in vitro by qPCR. 28350096 2017
CUI: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis 		0.010 GeneticVariation disease BEFREE Cirhin (NP_116219), the product of the CIRH1A gene is mutated in North American Indian childhood cirrhosis (NAIC/CIRH1A, OMIM 604901), a severe autosomal recessive intrahepatic cholestasis. 16225863 2005
CUI: C1843355
Disease: ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS
ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS 		0.010 GeneticVariation disease BEFREE A CLDN1 mutation was recently reported in patients with ichthyosis, leukocyte vacuoles, alopecia and sclerosing cholangitis (ILVASC), and North American Indian childhood cirrhosis (NAIC) is associated with a missense mutation in CIRH1A. 15768832 2004
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 Biomarker disease BEFREE Together with gene mapping studies showing that the NAIC gene is different from those of other familial cholestases, these observations suggest that NAIC is a distinct entity that could be classified as "progressive familial cholangiopathy." 11045837 2000