CLMP, CXADR like membrane protein, 79827

N. diseases: 31; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002873
Disease: Anemia of chronic disease
Anemia of chronic disease 		0.010 AlteredExpression phenotype BEFREE CLDN1 and CLMP expression were downregulated in non-responding hairdressers and mild ACD patients. 31783056 2020
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy 		0.010 AlteredExpression disease BEFREE CLDN1 and CLMP expression were downregulated in non-responding hairdressers and mild ACD patients. 31783056 2020
CUI: C4554601
Disease: Amyloidosis cutis dyschromia
Amyloidosis cutis dyschromia 		0.010 AlteredExpression disease BEFREE CLDN1 and CLMP expression were downregulated in non-responding hairdressers and mild ACD patients. 31783056 2020
CUI: C0001956
Disease: Alcohol Use Disorder
Alcohol Use Disorder 		0.010 Biomarker disease BEFREE ASAM identified three high priority performance measures for specification and testing for feasibility in various systems using administrative claims: use of pharmacotherapy for alcohol use disorder (AUD); use of pharmacotherapy for opioid use disorder (OUD); and continuity of care after withdrawal management services. 29601307 2019
CUI: C0038586
Disease: Substance Use Disorders
Substance Use Disorders 		0.010 Biomarker group BEFREE ASAM's Standards of Care for the Addiction Specialist established appropriate care for the treatment of substance use disorders. 29601307 2019
CUI: C0085281
Disease: Addictive Behavior
Addictive Behavior 		0.010 Biomarker phenotype BEFREE ASAM's Standards of Care for the Addiction Specialist established appropriate care for the treatment of substance use disorders. 29601307 2019
CUI: C4324621
Disease: Opioid use disorder
Opioid use disorder 		0.010 Biomarker disease BEFREE ASAM identified three high priority performance measures for specification and testing for feasibility in various systems using administrative claims: use of pharmacotherapy for alcohol use disorder (AUD); use of pharmacotherapy for opioid use disorder (OUD); and continuity of care after withdrawal management services. 29601307 2019
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		0.010 Biomarker disease BEFREE Consequently, insufficient transport of chyme and urine caused a fatal delay to thrive, a high rate of mortality, and provoked a severe hydronephrosis in CLMP knockouts. 29361518 2018
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.100 GeneticVariation phenotype GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.100 GeneticVariation phenotype GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
CUI: C0011603
Disease: Dermatitis
Dermatitis 		0.010 Biomarker disease BEFREE Immunosuppressed, filaggrin-deficient mice, treated with the topical STAT3 inhibitor Stattic® prior to ACAM-2000 infection, demonstrated rapid weight loss, prolonged vaccinia burden in skin, and dermatitis. 28081250 2017
CUI: C0021847
Disease: Intestinal Pseudo-Obstruction
Intestinal Pseudo-Obstruction 		0.740 GeneticVariation disease BEFREE Two new mutations of the CLMP gene identified in a newborn presenting congenital short-bowel syndrome. 27720179 2016
CUI: C0021847
Disease: Intestinal Pseudo-Obstruction
Intestinal Pseudo-Obstruction 		0.740 CausalMutation disease CLINVAR Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder. 27352967 2016
CUI: C0021847
Disease: Intestinal Pseudo-Obstruction
Intestinal Pseudo-Obstruction 		0.740 GeneticVariation disease BEFREE In this report, we describe novel inherited variants in CLMP in three CSBS patients derived from two unrelated families, confirming CLMP as the major gene involved in the development of the recessive form of CSBS. 27352967 2016
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0238062
Disease: Chronic intestinal pseudo-obstruction
Chronic intestinal pseudo-obstruction 		0.010 GeneticVariation disease BEFREE We describe a newborn presenting CSBS intestinal malrotation and chronic intestinal pseudo-obstruction syndrome (CIPS), compound heterozygous for two previously unreported heterozygous mutations in Coxsackie and adenovirus receptor-like membrane protein (CLMP) gene, one in intron 1 (c.28+1G>C), the other on exon 4 (c502C>T, p.R168X). 27720179 2016
CUI: C0021847
Disease: Intestinal Pseudo-Obstruction
Intestinal Pseudo-Obstruction 		0.740 GeneticVariation disease BEFREE Autosomal recessive congenital short bowel syndrome is caused by mutations in CLMP. 23037936 2013
CUI: C0021847
Disease: Intestinal Pseudo-Obstruction
Intestinal Pseudo-Obstruction 		0.740 Biomarker disease GENOMICS_ENGLAND We identified loss-of-function mutations in Coxsackie- and adenovirus receptor-like membrane protein (CLMP) in CSBS patients. 22155368 2012
CUI: C0021847
Disease: Intestinal Pseudo-Obstruction
Intestinal Pseudo-Obstruction 		0.740 GeneticVariation disease UNIPROT We identified loss-of-function mutations in Coxsackie- and adenovirus receptor-like membrane protein (CLMP) in CSBS patients. 22155368 2012
CUI: C0021847
Disease: Intestinal Pseudo-Obstruction
Intestinal Pseudo-Obstruction 		0.740 Biomarker disease GENOMICS_ENGLAND We identified loss-of-function mutations in Coxsackie- and adenovirus receptor-like membrane protein (CLMP) in CSBS patients. 22155368 2012
CUI: C0021847
Disease: Intestinal Pseudo-Obstruction
Intestinal Pseudo-Obstruction 		0.740 GeneticVariation disease BEFREE We identified loss-of-function mutations in Coxsackie- and adenovirus receptor-like membrane protein (CLMP) in CSBS patients. 22155368 2012
CUI: C0021847
Disease: Intestinal Pseudo-Obstruction
Intestinal Pseudo-Obstruction 		0.740 GermlineCausalMutation disease ORPHANET We identified loss-of-function mutations in Coxsackie- and adenovirus receptor-like membrane protein (CLMP) in CSBS patients. 22155368 2012