Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Hearing impairment and renal failure associated with RMND1 mutations. 26395190 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect. 23022098 2012
CUI: C3554067
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 		0.700 Biomarker disease CTD_human
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.310 Biomarker disease CTD_human A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer. 29915430 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.310 Biomarker disease CTD_human A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer. 29915430 2018
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human 		0.300 Biomarker disease CTD_human A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer. 29915430 2018
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.300 Biomarker group CTD_human A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer. 29915430 2018
CUI: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human 		0.300 Biomarker disease CTD_human A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer. 29915430 2018
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.120 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.110 Biomarker phenotype HPO
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.110 Biomarker phenotype HPO
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis 		0.100 Biomarker phenotype HPO
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.100 Biomarker disease HPO
CUI: C0023380
Disease: Lethargy
Lethargy 		0.100 Biomarker phenotype HPO
CUI: C0026848
Disease: Myopathy
Myopathy 		0.100 Biomarker group HPO
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		0.100 Biomarker phenotype HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 Biomarker phenotype HPO
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		0.100 Biomarker phenotype HPO
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.100 Biomarker phenotype HPO
CUI: C0235831
Disease: Renal Cell Dysplasia
Renal Cell Dysplasia 		0.100 Biomarker disease HPO
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney 		0.100 Biomarker disease HPO
CUI: C0266483
Disease: Pachygyria
Pachygyria 		0.100 Biomarker disease HPO