CHML, CHM like Rab escort protein, 1122

N. diseases: 12; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008525
Disease: Choroideremia
Choroideremia 		0.060 Biomarker disease BEFREE Choroideremia-like (CHML) protein is essential for the prenylation modification of various Rab proteins and it exerts biological effects on vesicle trafficking and signal transduction. 31762814 2019
CUI: C0008525
Disease: Choroideremia
Choroideremia 		0.060 Biomarker disease BEFREE Interestingly, the ZIKV infection signature revealed the downregulation of ALDH5A1 and CHML, genes implicated in neurological (cognitive impairment, expressive language deficit, and mild ataxia) and ophthalmic (choroideremia) disorders, respectively. 30046058 2018
CUI: C0008525
Disease: Choroideremia
Choroideremia 		0.060 Biomarker disease BEFREE Using semisynthetic fluorescent Rab27A, we demonstrate that although Rab27A can be prenylated by REP-2, this reaction can be effectively inhibited by other Rab proteins, providing a possible explanation for the accumulation of unprenylated Rab27A in choroideremia. 15186776 2004
CUI: C0008525
Disease: Choroideremia
Choroideremia 		0.060 Biomarker disease BEFREE The CHM gene encodes a protein of 653 amino acids, which is highly homologous to the mouse and rat CHM proteins, and, to a slightly lesser extent, to the human CHM-like (CHML) protein. 7981670 1994
CUI: C0008525
Disease: Choroideremia
Choroideremia 		0.060 GeneticVariation disease BEFREE Mapping of the choroideremia-like (CHML) gene at 1q42-qter and mutation analysis in patients with Usher syndrome type II. 8188272 1994
CUI: C0008525
Disease: Choroideremia
Choroideremia 		0.060 Biomarker disease BEFREE REP-2, a Rab escort protein encoded by the choroideremia-like gene. 8294464 1994
CUI: C0276289
Disease: Zika Virus Infection
Zika Virus Infection 		0.010 AlteredExpression disease BEFREE Interestingly, the ZIKV infection signature revealed the downregulation of ALDH5A1 and CHML, genes implicated in neurological (cognitive impairment, expressive language deficit, and mild ataxia) and ophthalmic (choroideremia) disorders, respectively. 30046058 2018
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.010 Biomarker disease BEFREE Interestingly, the ZIKV infection signature revealed the downregulation of ALDH5A1 and CHML, genes implicated in neurological (cognitive impairment, expressive language deficit, and mild ataxia) and ophthalmic (choroideremia) disorders, respectively. 30046058 2018
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		0.010 GeneticVariation disease BEFREE Corrigendum to "First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children" [Mol. Genet. Metab. Rep. 2 (2016) 81-84]. 28653700 2017
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.010 AlteredExpression disease BEFREE Interestingly, the CHML and ARHGAP22 genes are associated with the activity of Rab and Rho GTPases, which are important regulators of vesicle formation, actin dynamics, axonogenesis, processes that could be critical for SMA development. 23299920 2013
CUI: C0275524
Disease: Coinfection
Coinfection 		0.010 Biomarker phenotype BEFREE Here we report rAAV production by rHSV coinfection of baby hamster kidney (BHK) cells grown in suspension (sBHK cells), using two ICP27-deficient rHSV vectors, one harboring a transgene flanked by the AAV2 inverted terminal repeats and a second bearing the AAV rep2 and capX genes (where X is any rAAV serotype). 19419276 2009
CUI: C0004096
Disease: Asthma
Asthma 		0.010 GeneticVariation disease LHGDN OPN3 and CHML are unique genes with no known function that are related to the pathophysiology of asthma. 18344558 2008
CUI: C0004096
Disease: Asthma
Asthma 		0.010 Biomarker disease BEFREE OPN3 and CHML are unique genes with no known function that are related to the pathophysiology of asthma. 18344558 2008
CUI: C0155877
Disease: Allergic asthma
Allergic asthma 		0.010 GeneticVariation disease BEFREE Further screening using the pedigree-based association test (PBAT) identified polymorphisms in the OPN3 and CHML genes as being associated with asthma and atopic asthma after correcting for multiple comparisons. 18344558 2008
CUI: C1827849
Disease: IgE-mediated allergic asthma
IgE-mediated allergic asthma 		0.010 GeneticVariation disease BEFREE Further screening using the pedigree-based association test (PBAT) identified polymorphisms in the OPN3 and CHML genes as being associated with asthma and atopic asthma after correcting for multiple comparisons. 18344558 2008
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		0.010 Biomarker disease BEFREE To investigate a possible role of the CHML gene in the pathogenesis of USH2, we investigated 10 Dutch and 9 Danish USH2 patients for point mutations in the open reading frame of the CHML gene. 8188272 1994
CUI: C0456909
Disease: Blindness
Blindness 		0.010 Biomarker phenotype BEFREE In the retina, REP-2 may be only partially effective, leading eventually to retinal degeneration and blindness. 8294464 1994
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II 		0.010 GeneticVariation disease BEFREE Mapping of the choroideremia-like (CHML) gene at 1q42-qter and mutation analysis in patients with Usher syndrome type II. 8188272 1994