Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809339
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16 		0.700 GermlineCausalMutation disease ORPHANET Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy. 23315540 2013
CUI: C3809339
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16 		0.700 Biomarker disease GENOMICS_ENGLAND Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy. 23315540 2013
CUI: C3809339
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16 		0.700 GeneticVariation disease UNIPROT Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy. 23315540 2013
CUI: C3809339
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16 		0.700 GeneticVariation disease CLINVAR
CUI: C3809339
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16 		0.700 CausalMutation disease CLINVAR
CUI: C3809339
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16 		0.700 Biomarker disease CTD_human
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.110 GeneticVariation disease BEFREE Both patients presented with childhood-onset hypertrophic cardiomyopathy, which seems to be the core clinical feature associated with MRPL44 deficiency. 25797485 2015
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.110 Biomarker disease HPO
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		0.100 Biomarker phenotype HPO
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		0.100 Biomarker phenotype HPO
CUI: C1850415
Disease: Microvesicular hepatic steatosis
Microvesicular hepatic steatosis 		0.100 Biomarker phenotype HPO
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		0.100 Biomarker phenotype HPO
CUI: C0004096
Disease: Asthma
Asthma 		0.010 Biomarker disease BEFREE Gene-based analyses identified NRP2, MRPL44 and SERPINE2 to be associated with various asthma and allergy-related traits. 30206357 2019
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.010 AlteredExpression disease BEFREE Cross-sectional observational study was conducted to classify papillary thyroid cancer (PTC) by the expression of MRP L44 (MRPL44) messenger RNA (mRNA), and to investigate the clinicopathological features. 25590838 2015
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.010 AlteredExpression disease BEFREE MRPL44 expression may be a representative marker of metabolic phenotype according to OxPhos amount and a useful predictor of LNM. 25590838 2015
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		0.010 GeneticVariation disease BEFREE Both patients presented with childhood-onset hypertrophic cardiomyopathy, which seems to be the core clinical feature associated with MRPL44 deficiency. 25797485 2015
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.010 AlteredExpression disease BEFREE Retroviral expression of wild-type MRPL44 in patient fibroblasts rescued the large ribosome assembly defect and COX deficiency. 23315540 2013