CXADR, CXADR Ig-like cell adhesion molecule, 1525

N. diseases: 305; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases 		0.010 GeneticVariation group BEFREE Because of the age-specific effect, the onset of the sickle vasculopathy is delayed by nearly 20 years in the Sen/Ben patient with increased G gamma HbF as compared to those with a CAR haplotype or the homozygous Benin. 2476064 1989
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma 		0.020 Biomarker disease BEFREE Epidemiologic studies in Africa together with clinical correlative analysis in Southern California show that SS patients with a Ben haplotype have a less severe illness than those with a CAR and a more severe illness than those with a Sen. A single individual can be expected to fit into the overall pattern. 1713910 1991
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma 		0.020 GeneticVariation disease BEFREE The high risk SS patient with a CAR chromosome or one who is homozygous Ben without alpha-thalassemia-2 should be monitored closely for evidence of vasculopathy-induced microinfarction of the brain, kidneys, or lungs. 1887245 1991
CUI: C0085077
Disease: Sweet Syndrome
Sweet Syndrome 		0.020 Biomarker disease BEFREE Epidemiologic studies in Africa together with clinical correlative analysis in Southern California show that SS patients with a Ben haplotype have a less severe illness than those with a CAR and a more severe illness than those with a Sen. A single individual can be expected to fit into the overall pattern. 1713910 1991
CUI: C0085077
Disease: Sweet Syndrome
Sweet Syndrome 		0.020 GeneticVariation disease BEFREE The high risk SS patient with a CAR chromosome or one who is homozygous Ben without alpha-thalassemia-2 should be monitored closely for evidence of vasculopathy-induced microinfarction of the brain, kidneys, or lungs. 1887245 1991
CUI: C0086981
Disease: Sicca Syndrome
Sicca Syndrome 		0.020 Biomarker disease BEFREE Epidemiologic studies in Africa together with clinical correlative analysis in Southern California show that SS patients with a Ben haplotype have a less severe illness than those with a CAR and a more severe illness than those with a Sen. A single individual can be expected to fit into the overall pattern. 1713910 1991
CUI: C0086981
Disease: Sicca Syndrome
Sicca Syndrome 		0.020 GeneticVariation disease BEFREE The high risk SS patient with a CAR chromosome or one who is homozygous Ben without alpha-thalassemia-2 should be monitored closely for evidence of vasculopathy-induced microinfarction of the brain, kidneys, or lungs. 1887245 1991
CUI: C1456873
Disease: alpha^+^ Thalassemia
alpha^+^ Thalassemia 		0.010 GeneticVariation disease BEFREE The high risk SS patient with a CAR chromosome or one who is homozygous Ben without alpha-thalassemia-2 should be monitored closely for evidence of vasculopathy-induced microinfarction of the brain, kidneys, or lungs. 1887245 1991
CUI: C0262587
Disease: Parathyroid Adenoma
Parathyroid Adenoma 		0.010 GeneticVariation disease BEFREE Comparison of the cDNA sequence to that of the normal human CaR gene showed no alteration in the coding region sequence of the CaR in this particular instance of parathyroid adenoma. 7759551 1995
CUI: C0271844
Disease: Parathyroid hyperplasia
Parathyroid hyperplasia 		0.010 GeneticVariation disease BEFREE Inactivating mutations of the parathyroid cell calcium receptor (CaR) gene cause one form of familial benign/hypocalciuric hypercalcemia, and in homozygous form, cause neonatal severe primary hyperparathyroidism with parathyroid hyperplasia. 7593455 1995
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
HYPERPARATHYROIDISM, NEONATAL SEVERE 		0.010 Biomarker disease BEFREE Inactivating mutations of the parathyroid cell calcium receptor (CaR) gene cause one form of familial benign/hypocalciuric hypercalcemia, and in homozygous form, cause neonatal severe primary hyperparathyroidism with parathyroid hyperplasia. 7593455 1995
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.040 PosttranslationalModification disease BEFREE We have explored a possible involvement of the CAR gene in colorectal cancer. 8758933 1996
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 PosttranslationalModification disease BEFREE We have explored a possible involvement of the CAR gene in colorectal cancer. 8758933 1996
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.090 Biomarker disease BEFREE We studied the possible involvement of the CAR gene in the progression of HCC. 9221800 1997
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		0.020 GeneticVariation disease BEFREE Activating mutations of the Ca(2+)-sensing receptor (CaR) gene have been identified in families with autosomal dominant hypoparathyroidism and in one patient with sporadic hypoparathyroidism. 9253358 1997
CUI: C0342345
Disease: Hypoparathyroidism - autosomal dominant
Hypoparathyroidism - autosomal dominant 		0.020 GeneticVariation disease BEFREE Activating mutations of the Ca(2+)-sensing receptor (CaR) gene have been identified in families with autosomal dominant hypoparathyroidism and in one patient with sporadic hypoparathyroidism. 9253358 1997
CUI: C0342345
Disease: Hypoparathyroidism - autosomal dominant
Hypoparathyroidism - autosomal dominant 		0.020 GeneticVariation disease BEFREE Activating mutations of the Ca(2+)-sensing receptor (CaR) gene cause autosomal dominant hypoparathyroidism. 9380434 1997
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		0.020 GeneticVariation disease BEFREE Activating mutations of the extracellular calcium (Ca2+e)-sensing receptor (CaR) gene, mostly in its extracellular domain, can cause both familial and sporadic hypoparathyroidism. 9661634 1998
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 GeneticVariation disease BEFREE Activating mutations of the extracellular calcium (Ca2+e)-sensing receptor (CaR) gene, mostly in its extracellular domain, can cause both familial and sporadic hypoparathyroidism. 9661634 1998
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		0.010 GeneticVariation disease BEFREE The microsatellite locus DQ CAR, which is localized between DQA1 and DQB1, shows a significant positive association with JA for the allele DQ CAR 121 and a negative association for the allele DQ CAR 111. 9802601 1998
CUI: C3714757
Disease: Juvenile rheumatoid arthritis
Juvenile rheumatoid arthritis 		0.010 GeneticVariation disease BEFREE The microsatellite locus DQ CAR, which is localized between DQA1 and DQB1, shows a significant positive association with JA for the allele DQ CAR 121 and a negative association for the allele DQ CAR 111. 9802601 1998
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.060 AlteredExpression disease BEFREE Northern blot analysis and RT-PCR revealed bona fide CaR transcripts, and immunocytochemistry and Western analysis with a specific anti-CaR antiserum demonstrated CaR protein expression in both breast cancer cell lines. 11108243 2000
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.060 AlteredExpression disease BEFREE Northern blot analysis and RT-PCR revealed bona fide CaR transcripts, and immunocytochemistry and Western analysis with a specific anti-CaR antiserum demonstrated CaR protein expression in both breast cancer cell lines. 11108243 2000
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.030 AlteredExpression disease BEFREE In human prostate cancer, CAR protein is down-regulated in the highly tumorigenic PC3 cell line, which suggests that, in addition to its function as a viral receptor, CAR may have a pathophysiological role in prostate cancer progression. 11016624 2000
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.030 AlteredExpression disease BEFREE In human prostate cancer, CAR protein is down-regulated in the highly tumorigenic PC3 cell line, which suggests that, in addition to its function as a viral receptor, CAR may have a pathophysiological role in prostate cancer progression. 11016624 2000