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: C0021847
Disease: Intestinal Pseudo-Obstruction
Intestinal Pseudo-Obstruction 		0.740 Biomarker disease CTD_human
CUI: C0030446
Disease: Paralytic Ileus
Paralytic Ileus 		0.300 Biomarker disease CTD_human
CUI: C0042781
Disease: Visceral Myopathy
Visceral Myopathy 		0.300 Biomarker disease CTD_human
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		0.100 Biomarker disease HPO
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.100 Biomarker disease HPO
CUI: C0038238
Disease: Steatorrhea
Steatorrhea 		0.100 Biomarker phenotype HPO
CUI: C0221210
Disease: Congenital malrotation of intestine
Congenital malrotation of intestine 		0.100 Biomarker disease HPO
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 Biomarker disease HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0401151
Disease: Chronic diarrhea
Chronic diarrhea 		0.100 Biomarker disease HPO
CUI: C1280433
Disease: Lipoatrophy
Lipoatrophy 		0.100 Biomarker disease HPO
CUI: C1291045
Disease: Abnormal peristalsis
Abnormal peristalsis 		0.100 Biomarker phenotype HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C3805050
Disease: Decreased intestinal transit time
Decreased intestinal transit time 		0.100 Biomarker phenotype HPO
CUI: C4021640
Disease: Intestinal hypoplasia
Intestinal hypoplasia 		0.100 Biomarker phenotype HPO
CUI: C4293687
Disease: Congenital shortened small intestine
Congenital shortened small intestine 		0.100 Biomarker disease HPO
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
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 GeneticVariation disease BEFREE Two new mutations of the CLMP gene identified in a newborn presenting congenital short-bowel syndrome. 27720179 2016