Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848030
Disease: Hypotonia-Cystinuria Syndrome
Hypotonia-Cystinuria Syndrome 		0.520 Biomarker disease BEFREE Different recessive contiguous gene deletion syndromes involving PREPL and a variable combination of SLC3A1 (hypotonia-cystinuria syndrome), CAMKMT (atypical hypotonia-cystinuria syndrome), and PPM1B (2p21 deletion syndrome) have been described. 28726805 2018
CUI: C1848030
Disease: Hypotonia-Cystinuria Syndrome
Hypotonia-Cystinuria Syndrome 		0.520 Biomarker disease MGD Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function. 26247364 2015
CUI: C1848030
Disease: Hypotonia-Cystinuria Syndrome
Hypotonia-Cystinuria Syndrome 		0.520 Biomarker disease CTD_human Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function. 26247364 2015
CUI: C1848030
Disease: Hypotonia-Cystinuria Syndrome
Hypotonia-Cystinuria Syndrome 		0.520 GeneticVariation disease BEFREE In atypical HCS an additional gene (C2orf34) is deleted, and finally, in the 2p21 deletion syndrome the open reading frame of PPM1B is also disrupted. 18781961 2008
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		0.300 Biomarker group CTD_human Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function. 26247364 2015
CUI: C0011757
Disease: Developmental Coordination Disorder
Developmental Coordination Disorder 		0.300 Biomarker disease CTD_human Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function. 26247364 2015
CUI: C0023186
Disease: Learning Disorders
Learning Disorders 		0.300 Biomarker group CTD_human Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function. 26247364 2015
CUI: C0026613
Disease: Motor Skills Disorders
Motor Skills Disorders 		0.300 Biomarker group CTD_human Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function. 26247364 2015
CUI: C0085996
Disease: Child Development Deviations
Child Development Deviations 		0.300 Biomarker disease CTD_human Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function. 26247364 2015
CUI: C0085997
Disease: Child Development Disorders, Specific
Child Development Disorders, Specific 		0.300 Biomarker disease CTD_human Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function. 26247364 2015
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.300 Biomarker phenotype CTD_human Patients presenting slow growth and muscle weakness that could result from a mitochondrial impairment and mental retardation should be considered for sequence analysis of the CaM KMT gene. 26247364 2015
CUI: C0162668
Disease: Megaconial Myopathies
Megaconial Myopathies 		0.300 Biomarker disease CTD_human Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function. 26247364 2015
CUI: C0162669
Disease: Pleoconial Myopathies
Pleoconial Myopathies 		0.300 Biomarker disease CTD_human Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function. 26247364 2015
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.300 Biomarker group CTD_human Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function. 26247364 2015
CUI: C0751262
Disease: Adult Learning Disorders
Adult Learning Disorders 		0.300 Biomarker group CTD_human Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function. 26247364 2015
CUI: C0751263
Disease: Learning Disturbance
Learning Disturbance 		0.300 Biomarker disease CTD_human Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function. 26247364 2015
CUI: C0751265
Disease: Learning Disabilities
Learning Disabilities 		0.300 Biomarker disease CTD_human Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function. 26247364 2015
CUI: C0949496
Disease: Luft Disease
Luft Disease 		0.300 Biomarker disease CTD_human Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function. 26247364 2015
CUI: C1330966
Disease: Developmental Academic Disorder
Developmental Academic Disorder 		0.300 Biomarker phenotype CTD_human Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function. 26247364 2015
CUI: C4749458
Disease: 2p21 microdeletion syndrome without cystinuria
2p21 microdeletion syndrome without cystinuria 		0.300 ChromosomalRearrangement disease ORPHANET Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria. 23794250 2013
CUI: C4304537
Disease: 2p21 microdeletion syndrome
2p21 microdeletion syndrome 		0.300 ChromosomalRearrangement disease ORPHANET A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease. 11524703 2001
CUI: C0268641
Disease: Amino acid transport disorder
Amino acid transport disorder 		0.200 Biomarker group MGD Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function. 26247364 2015
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.110 GeneticVariation disease GWASDB Genome-wide association of bipolar disorder suggests an enrichment of replicable associations in regions near genes. 21738484 2011
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.110 AlteredExpression disease BEFREE These N-CAM isoforms provide potential mechanisms for expression of multiple neurobiological alterations between controls and individuals with schizophrenia or bipolar illness. 11033343 2000
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019