association dataset threshold value standardized value neuropathy GeneRIF Biological Term Annotations 1.0 null neurodevelopmental abnormality HPO Gene-Disease Associations 1.0 null eeg abnormality HPO Gene-Disease Associations 1.0 null LP-1 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.03404 Respiratory chain complex I (holoenzyme), mitochondrial CORUM Protein Complexes 1.0 null Nerve Degeneration CTD Gene-Disease Associations 1.0 1.08337 single-organism process GO Biological Process Annotations 2015 1.0 null abnormality of urine calcium concentration HPO Gene-Disease Associations 1.0 null maternally GeneRIF Biological Term Annotations 1.0 null abnormality of cardiovascular system physiology HPO Gene-Disease Associations 1.0 null cetuximab_homo sapiens_gpl570_gse21483 GEO Signatures of Differentially Expressed Genes for Small Molecules 1.0 null abnormal respiratory system morphology HPO Gene-Disease Associations 1.0 null abnormality of the urinary system HPO Gene-Disease Associations 1.0 null MKN-74 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.72592 suggesting GeneRIF Biological Term Annotations 1.0 null abnormal mitochondrial morphology MGI Mouse Phenotype Associations 2023 1.0 null abnormal eye electrophysiology MPO Gene-Phenotype Associations 1.0 null SW 403 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.81733 progressive GeneRIF Biological Term Annotations 1.0 null Neoplasm Metastasis DisGeNET Gene-Phenotype Associations 1.0 null multiple lipomas HPO Gene-Disease Associations 1.0 null TOV-112D Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 0.974957 hearing abnormality HPO Gene-Disease Associations 1.0 null small molecule metabolic process GO Biological Process Annotations 2015 1.0 null abnormality of the respiratory system HPO Gene-Disease Associations 1.0 null membrane GO Cellular Component Annotations 2015 1.0 null abnormality of body weight HPO Gene-Disease Associations 1.0 null abnormality of calcium homeostasis HPO Gene-Disease Associations 1.0 null anorexia HPO Gene-Disease Associations 1.0 null population GeneRIF Biological Term Annotations 1.0 null abnormality of the teeth HPO Gene-Disease Associations 1.0 null abnormality of the middle ear HPO Gene-Disease Associations 1.0 null Adenocarcinoma DisGeNET Gene-Disease Associations 1.0 null autism HPO Gene-Disease Associations 1.0 null abnormal circulating protein level MGI Mouse Phenotype Associations 2023 1.0 null ranging GeneRIF Biological Term Annotations 1.0 null muscle weakness HPO Gene-Disease Associations 1.0 null studied GeneRIF Biological Term Annotations 1.0 null abnormality of vision HPO Gene-Disease Associations 1.0 null suggested GeneRIF Biological Term Annotations 1.0 null abnormality of cardiac morphology HPO Gene-Disease Associations 1.0 null abnormal retinal ganglion layer morphology MPO Gene-Phenotype Associations 1.0 null optic atrophy, hereditary, leber GAD Gene-Disease Associations 1.0 null sudden central visual loss HPO Gene-Disease Associations 1.0 null Skin Neoplasms CTD Gene-Disease Associations 1.0 1.10493 abnormal renal morphology HPO Gene-Disease Associations 1.0 null abnormal myelin sheath morphology MPO Gene-Phenotype Associations 1.0 null abnormal mitochondrial ATP synthesis coupled electron transport MGI Mouse Phenotype Associations 2023 1.0 null Tubulointerstitial Abnormality DisGeNET Gene-Disease Associations 1.0 null Paresthesia DisGeNET Gene-Phenotype Associations 1.0 null optic disc pallor HPO Gene-Disease Associations 1.0 null prostate cancer GAD Gene-Disease Associations 1.0 null abnormalities of the peripheral arteries HPO Gene-Disease Associations 1.0 null children GeneRIF Biological Term Annotations 1.0 null abnormality of the hair HPO Gene-Disease Associations 1.0 null SCC-9 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.43602 abnormality of the fundus HPO Gene-Disease Associations 1.0 null phenotypic abnormality HPO Gene-Disease Associations 1.0 null abnormal glucose homeostasis HPO Gene-Disease Associations 1.0 null Dystonia DisGeNET Gene-Phenotype Associations 1.0 null Alcoholism HuGE Navigator Gene-Phenotype Associations 1.0 null Rod-Cone Dystrophy DisGeNET Gene-Disease Associations 1.0 null tumors GeneRIF Biological Term Annotations 1.0 null thyroiditis HPO Gene-Disease Associations 1.0 null Genetic Predisposition to Disease HuGE Navigator Gene-Phenotype Associations 1.0 null type ii diabetes mellitus HPO Gene-Disease Associations 1.0 null abnormal b-wave shape MPO Gene-Phenotype Associations 1.0 null Thyroiditis DisGeNET Gene-Disease Associations 1.0 null Tonic - Clonic Seizures DisGeNET Gene-Disease Associations 1.0 null Abnormality Of Krebs Cycle Metabolism DisGeNET Gene-Phenotype Associations 1.0 null Nystagmus DisGeNET Gene-Disease Associations 1.0 null neoplasm of fatty tissue HPO Gene-Disease Associations 1.0 null Aortic Aneurysm DisGeNET Gene-Disease Associations 1.0 null sin3a_22783022_mcf7_lof_human_gpl570_gds4388 GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations 1.0 0.858165 abnormality of the thyroid gland HPO Gene-Disease Associations 1.0 null recovery GeneRIF Biological Term Annotations 1.0 null HS 852.T Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.55184 Obesity HuGE Navigator Gene-Phenotype Associations 1.0 null Spontaneous Hematomas DisGeNET Gene-Disease Associations 1.0 null large central visual field defect HPO Gene-Disease Associations 1.0 null carious teeth HPO Gene-Disease Associations 1.0 null hemiplegia/hemiparesis HPO Gene-Disease Associations 1.0 null Fever DisGeNET Gene-Phenotype Associations 1.0 null abnormal facial expression HPO Gene-Disease Associations 1.0 null IM-95M Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 0.877558 dur GeneRIF Biological Term Annotations 1.0 null hypercalciuria HPO Gene-Disease Associations 1.0 null functional abnormality of the gastrointestinal tract HPO Gene-Disease Associations 1.0 null lactic acidosis MGI Mouse Phenotype Associations 2023 1.0 null CI-1 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.4759 abnormality of peripheral nerve conduction HPO Gene-Disease Associations 1.0 null NCI-H1092 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 0.877558 Prostate Carcinoma DisGeNET Gene-Disease Associations 1.0 null mRNA_SFPI1_19796622 ESCAPE Omics Signatures of Genes and Proteins for Stem Cells -1.0 null cellular metabolic process GO Biological Process Annotations 2015 1.0 null abnormality of the genitourinary system HPO Gene-Disease Associations 1.0 null abnormal eye morphology MPO Gene-Phenotype Associations 1.0 null feeding difficulties in infancy HPO Gene-Disease Associations 1.0 null HCC202 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 0.974957 molecular_function GO Molecular Function Annotations 2015 1.0 null Ophthalmoparesis DisGeNET Gene-Phenotype Associations 1.0 null abnormal mitochondrial atp synthesis coupled electron transport MPO Gene-Phenotype Associations 1.0 null Hallucinations DisGeNET Gene-Disease Associations 1.0 null m14453ga GeneRIF Biological Term Annotations 1.0 null aplasia/hypoplasia of the cerebellum HPO Gene-Disease Associations 1.0 null Electromyogram Abnormal DisGeNET Gene-Phenotype Associations 1.0 null abnormal mitochondrial physiology MPO Gene-Phenotype Associations 1.0 null Memory Impairment DisGeNET Gene-Phenotype Associations 1.0 null KYSE-270 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 0.877558 respiratory electron transport chain GO Biological Process Annotations 2015 1.0 null abnormal oxidative phosphorylation MPO Gene-Phenotype Associations 1.0 null abnormality of thyroid physiology HPO Gene-Disease Associations 1.0 null Creatine Phosphokinase Serum Increased DisGeNET Gene-Phenotype Associations 1.0 null Goiter DisGeNET Gene-Phenotype Associations 1.0 null Liver Failure DisGeNET Gene-Disease Associations 1.0 null abnormal urinary electrolyte concentration HPO Gene-Disease Associations 1.0 null Myelitis, Transverse DisGeNET Gene-Disease Associations 1.0 null Increased Csf Lactate DisGeNET Gene-Phenotype Associations 1.0 null severe GeneRIF Biological Term Annotations 1.0 null cerebral atrophy HPO Gene-Disease Associations 1.0 null MKN-1 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.18563 indian GeneRIF Biological Term Annotations 1.0 null abnormality of coordination HPO Gene-Disease Associations 1.0 null NCI-H2722 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -0.940737 MX-1 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.16277 LS1034 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -0.841782 abnormality of nervous system physiology HPO Gene-Disease Associations 1.0 null respiratory chain GO Cellular Component Annotations 2015 1.0 null family GeneRIF Biological Term Annotations 1.0 null Idiopathic Pulmonary Arterial Hypertension DisGeNET Gene-Disease Associations 1.0 null independently GeneRIF Biological Term Annotations 1.0 null abnormal eye physiology MPO Gene-Phenotype Associations 1.0 null MKN-45 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.53641 harboring GeneRIF Biological Term Annotations 1.0 null abnormality of the cerebral ventricles HPO Gene-Disease Associations 1.0 null Drug-Induced Liver Disease DisGeNET Gene-Phenotype Associations 1.0 null abnormality of the abdominal organs HPO Gene-Disease Associations 1.0 null mRNA_FEM1B_19796622 ESCAPE Omics Signatures of Genes and Proteins for Stem Cells -1.0 null abnormal renal physiology HPO Gene-Disease Associations 1.0 null lhon GeneRIF Biological Term Annotations 1.0 null CAL-148 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.03404 cytoplasmic part GO Cellular Component Annotations 2015 1.0 null intracellular part GO Cellular Component Annotations 2015 1.0 null pulmonary embolism HPO Gene-Disease Associations 1.0 null vascular skin abnormality HPO Gene-Disease Associations 1.0 null decreased body weight HPO Gene-Disease Associations 1.0 null benign GeneRIF Biological Term Annotations 1.0 null anterior hypopituitarism HPO Gene-Disease Associations 1.0 null membrane part GO Cellular Component Annotations 2015 1.0 null ichthyosis HPO Gene-Disease Associations 1.0 null abnormality of nervous system morphology HPO Gene-Disease Associations 1.0 null NCI-H1395 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 0.974957 Cerebral Calcification DisGeNET Gene-Phenotype Associations 1.0 null abnormality of the globe HPO Gene-Disease Associations 1.0 null Glomerulopathy Assessment DisGeNET Gene-Phenotype Associations 1.0 null metabolic process GO Biological Process Annotations 2015 1.0 null Proteinuria DisGeNET Gene-Phenotype Associations 1.0 null Dyskinetic Syndrome DisGeNET Gene-Disease Associations 1.0 null Amblyopia HuGE Navigator Gene-Phenotype Associations 1.0 null Ventricular Preexcitation DisGeNET Gene-Disease Associations 1.0 null COLO 741 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 0.832602 malignant GeneRIF Biological Term Annotations 1.0 null West Syndrome DisGeNET Gene-Disease Associations 1.0 null KMS-12-PE Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.03404 HCT-15 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.55184 neoplasm HPO Gene-Disease Associations 1.0 null abnormality of the systemic arterial tree HPO Gene-Disease Associations 1.0 null Fatigue DisGeNET Gene-Phenotype Associations 1.0 null SK-MEL-3 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 0.832602 hyperthyroidism HPO Gene-Disease Associations 1.0 null Protruding Ear DisGeNET Gene-Phenotype Associations 1.0 null HOP-62 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -0.868623 mRNA_ESX1_19796622 ESCAPE Omics Signatures of Genes and Proteins for Stem Cells -1.0 null Ophthalmoplegia DisGeNET Gene-Phenotype Associations 1.0 null gastrointestinal obstruction HPO Gene-Disease Associations 1.0 null abnormality of higher mental function HPO Gene-Disease Associations 1.0 null HCC1187 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 0.877558 abnormal joint morphology HPO Gene-Disease Associations 1.0 null Abnormality Of Retinal Pigmentation DisGeNET Gene-Phenotype Associations 1.0 null long qt syndrome GAD Gene-Disease Associations 1.0 null leber's hereditary optic neuropathy GAD Gene-Disease Associations 1.0 null abnormality of temperature regulation HPO Gene-Disease Associations 1.0 null abnormal respiratory electron transport chain MGI Mouse Phenotype Associations 2023 1.0 null renal insufficiency HPO Gene-Disease Associations 1.0 null decreased facial expression HPO Gene-Disease Associations 1.0 null Muscle Weakness DisGeNET Gene-Phenotype Associations 1.0 null Amaurosis DisGeNET Gene-Phenotype Associations 1.0 null hypoparathyroidism HPO Gene-Disease Associations 1.0 null Electron Transport Chain(Homo sapiens) WikiPathways Pathways 2014 1.0 null abnormality of the hypothalamus-pituitary axis HPO Gene-Disease Associations 1.0 null Retinitis Pigmentosa DisGeNET Gene-Disease Associations 1.0 null migraine HPO Gene-Disease Associations 1.0 null intracellular organelle part GO Cellular Component Annotations 2015 1.0 null cell part GO Cellular Component Annotations 2015 1.0 null Hypertrophic Cardiomyopathy DisGeNET Gene-Disease Associations 1.0 null aortic dissection HPO Gene-Disease Associations 1.0 null Klinefelter Syndrome DisGeNET Gene-Disease Associations 1.0 null Variable Expressivity DisGeNET Gene-Phenotype Associations 1.0 null Fetal Growth Retardation DisGeNET Gene-Phenotype Associations 1.0 null KYSE-70 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.24081 estradiol_homo sapiens_gpl570_gse16683 GEO Signatures of Differentially Expressed Genes for Small Molecules -1.0 null Electroencephalogram Abnormal DisGeNET Gene-Phenotype Associations 1.0 null cause GeneRIF Biological Term Annotations 1.0 null Leber Optic Atrophy And Dystonia DisGeNET Gene-Disease Associations 1.0 null candidate GeneRIF Biological Term Annotations 1.0 null sensorineural hearing impairment HPO Gene-Disease Associations 1.0 null aplasia/hypoplasia involving the central nervous system HPO Gene-Disease Associations 1.0 null hsa-miR-30c-5p MiRTarBase microRNA Targets 1.0 null aortic dilatation HPO Gene-Disease Associations 1.0 null Increased Serum Lactate DisGeNET Gene-Phenotype Associations 1.0 null hallucinations HPO Gene-Disease Associations 1.0 null abnormality of the skull HPO Gene-Disease Associations 1.0 null DOR 13 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.2803 decreased b-wave amplitude MGI Mouse Phenotype Associations 2023 1.0 null EPLC-272H Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -0.940737 primary adrenal insufficiency HPO Gene-Disease Associations 1.0 null hypothyroidism HPO Gene-Disease Associations 1.0 null abnormal ocular fundus morphology MPO Gene-Phenotype Associations 1.0 null Steatohepatitis DisGeNET Gene-Disease Associations 1.0 null Abdominal Pain DisGeNET Gene-Phenotype Associations 1.0 null vision/eye phenotype MPO Gene-Phenotype Associations 1.0 null cerebral calcification HPO Gene-Disease Associations 1.0 null Blindness DisGeNET Gene-Phenotype Associations 1.0 null dystonia HPO Gene-Disease Associations 1.0 null abnormality of central motor function HPO Gene-Disease Associations 1.0 null Failure To Thrive DisGeNET Gene-Disease Associations 1.0 null abnormality of muscle morphology HPO Gene-Disease Associations 1.0 null Episodic Respiratory Distress DisGeNET Gene-Phenotype Associations 1.0 null pulmonary hypertension HPO Gene-Disease Associations 1.0 null malformation of the heart and great vessels HPO Gene-Disease Associations 1.0 null Abnormal Visual Evoked Potential DisGeNET Gene-Phenotype Associations 1.0 null mtdna GeneRIF Biological Term Annotations 1.0 null abnormality of the myocardium HPO Gene-Disease Associations 1.0 null NCI-H2030 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 0.974957 Cataract DisGeNET Gene-Disease Associations 1.0 null Cardiac Arrhythmia DisGeNET Gene-Phenotype Associations 1.0 null Scotoma DisGeNET Gene-Phenotype Associations 1.0 null abnormality of the skeletal system HPO Gene-Disease Associations 1.0 null generation of precursor metabolites and energy GO Biological Process Annotations 2015 1.0 null abnormality of muscle size HPO Gene-Disease Associations 1.0 null synrome GeneRIF Biological Term Annotations 1.0 null NADH:ubiquinone/plastoquinone oxidoreductase, chain 6 InterPro Predicted Protein Domain Annotations 1.0 null abnormality of muscle physiology HPO Gene-Disease Associations 1.0 null KMS-26 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 0.877558 oxidoreductase activity, acting on nad(p)h GO Molecular Function Annotations 2015 1.0 null abnormality of body height HPO Gene-Disease Associations 1.0 null Addison Disease DisGeNET Gene-Disease Associations 1.0 null arrhythmia HPO Gene-Disease Associations 1.0 null abnormality of urine homeostasis HPO Gene-Disease Associations 1.0 null NCI-H322T Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.11398 abnormal pattern of respiration HPO Gene-Disease Associations 1.0 null abnormality of the pinna HPO Gene-Disease Associations 1.0 null optic atrophy, hereditary, leber; vision disorders GAD Gene-Disease Associations 1.0 null SQSTM1_OE_GDS2653_651_human_IMR-32 neuroblastoma cells GEO Signatures of Differentially Expressed Genes for Gene Perturbations 1.0 null abnormality of skeletal physiology HPO Gene-Disease Associations 1.0 null mtnd6 GeneRIF Biological Term Annotations 1.0 null hypopigmented skin patches HPO Gene-Disease Associations 1.0 null papilledema HPO Gene-Disease Associations 1.0 null COLO 829 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.03404 abnormal eye physiology HPO Gene-Disease Associations 1.0 null proteinuria HPO Gene-Disease Associations 1.0 null reduced consciousness/confusion HPO Gene-Disease Associations 1.0 null ubiquinone biosynthesis KEGG Pathways 1.0 null Progressive Sensorineural Hearing Impairment DisGeNET Gene-Disease Associations 1.0 null Generalized Myoclonic Seizures DisGeNET Gene-Disease Associations 1.0 null oxidation-reduction process GO Biological Process Annotations 2015 1.0 null hsa-miR-130b-5p MiRTarBase microRNA Targets 1.0 null optic atrophy HPO Gene-Disease Associations 1.0 null hypopituitarism HPO Gene-Disease Associations 1.0 null Short Stature DisGeNET Gene-Phenotype Associations 1.0 null abnormality of skin morphology HPO Gene-Disease Associations 1.0 null ophthalmoparesis HPO Gene-Disease Associations 1.0 null mRNA_GATA3_19796622 ESCAPE Omics Signatures of Genes and Proteins for Stem Cells -1.0 null abnormal neuron morphology MPO Gene-Phenotype Associations 1.0 null Congestive Heart Failure DisGeNET Gene-Disease Associations 1.0 null visual GeneRIF Biological Term Annotations 1.0 null Sensorimotor Neuropathy DisGeNET Gene-Disease Associations 1.0 null Generalized Hirsutism DisGeNET Gene-Phenotype Associations 1.0 null abnormality of the musculature HPO Gene-Disease Associations 1.0 null nausea and vomiting HPO Gene-Disease Associations 1.0 null abnormality of the integument HPO Gene-Disease Associations 1.0 null Mask-Like Facies DisGeNET Gene-Phenotype Associations 1.0 null myopathy HPO Gene-Disease Associations 1.0 null Myalgia DisGeNET Gene-Phenotype Associations 1.0 null delayed skeletal maturation HPO Gene-Disease Associations 1.0 null Static Tremor DisGeNET Gene-Phenotype Associations 1.0 null retinal diseases GAD Gene-Disease Associations 1.0 null dystonia GeneRIF Biological Term Annotations 1.0 null abnormality of the liver HPO Gene-Disease Associations 1.0 null EB1 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 0.925533 Pulmonary Embolism DisGeNET Gene-Disease Associations 1.0 null Simian Acquired Immune Deficiency Syndrome_T lymphocyte_GSE4785 GEO Signatures of Differentially Expressed Genes for Diseases 1.0 1.5575 incoordination HPO Gene-Disease Associations 1.0 null abnormal blood homeostasis MPO Gene-Phenotype Associations 1.0 null abnormality of the face HPO Gene-Disease Associations 1.0 null dna GeneRIF Biological Term Annotations 1.0 null SW 837 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.36153 SW 948 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.33131 Abnormal Speech Prosody DisGeNET Gene-Phenotype Associations 1.0 null abnormality of the ear HPO Gene-Disease Associations 1.0 null DPP3_OE_GDS2653_650_human_IMR-32 neuroblastoma cells GEO Signatures of Differentially Expressed Genes for Gene Perturbations 1.0 null morphological abnormality of the gastrointestinal tract HPO Gene-Disease Associations 1.0 null synergistic GeneRIF Biological Term Annotations 1.0 null neurological speech impairment HPO Gene-Disease Associations 1.0 null abnormality of the mitochondrion HPO Gene-Disease Associations 1.0 null abnormality of the inner ear HPO Gene-Disease Associations 1.0 null YMB-1-E Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.03404 bilateral basal ganglia lesions HPO Gene-Disease Associations 1.0 null Mitochondrial Respiratory Chain Defects DisGeNET Gene-Phenotype Associations 1.0 null free GeneRIF Biological Term Annotations 1.0 null Norwalk Virus_HG23_19515767_GSE15520 GEO Signatures of Differentially Expressed Genes for Viral Infections -1.0 -1.31546 abnormal tendon morphology HPO Gene-Disease Associations 1.0 null adultonset GeneRIF Biological Term Annotations 1.0 null alzheimer disease; ataxia; diabetes mellitus, type 2; disease; obesity; parkinson disease GAD Gene-Disease Associations 1.0 null HEY Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.42084 abnormal cell morphology MPO Gene-Phenotype Associations 1.0 null microcephaly HPO Gene-Disease Associations 1.0 null COLO 201 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.03404 UACC-812 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 0.925533 CAL-12T Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -0.852066 acidosis MPO Gene-Phenotype Associations 1.0 null abnormal a wave amplitude MPO Gene-Phenotype Associations 1.0 null Dilated Ventricles (Finding) DisGeNET Gene-Phenotype Associations 1.0 null Malabsorption, Ctcae DisGeNET Gene-Phenotype Associations 1.0 null HS 746T Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -3.81625 Anxiety DisGeNET Gene-Disease Associations 1.0 null HT-1080 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.28817 manifestation GeneRIF Biological Term Annotations 1.0 null leigh GeneRIF Biological Term Annotations 1.0 null hypertrophic cardiomyopathy HPO Gene-Disease Associations 1.0 null hsa-miR-877-3p MiRTarBase microRNA Targets 1.0 null oxidoreductase activity, acting on nad(p)h, quinone or similar compound as acceptor GO Molecular Function Annotations 2015 1.0 null abnormality of the cerebral vasculature HPO Gene-Disease Associations 1.0 null OCI-AML5 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.03404 electron transport chain GO Biological Process Annotations 2015 1.0 null JL-1 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -0.878775 abnormality of the cerebral subcortex HPO Gene-Disease Associations 1.0 null HCC1419 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.55184 organelle membrane GO Cellular Component Annotations 2015 1.0 null emg abnormality HPO Gene-Disease Associations 1.0 null Anemia CTD Gene-Disease Associations 1.0 1.14747 abnormality of skin pigmentation HPO Gene-Disease Associations 1.0 null abnormal nervous system morphology MPO Gene-Phenotype Associations 1.0 null mitochondrial membrane GO Cellular Component Annotations 2015 1.0 null sudden cardiac death HPO Gene-Disease Associations 1.0 null abnormality of the posterior segment of the eye HPO Gene-Disease Associations 1.0 null Nystagmus DisGeNET Gene-Phenotype Associations 1.0 null abnormality of the skin HPO Gene-Disease Associations 1.0 null Colorectal Neoplasms HuGE Navigator Gene-Phenotype Associations 1.0 null Muscle Spasticity DisGeNET Gene-Phenotype Associations 1.0 null resulted GeneRIF Biological Term Annotations 1.0 null RKO Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 0.832602 Abnormality Of Mitochondrial Metabolism DisGeNET Gene-Phenotype Associations 1.0 null nervous system phenotype MPO Gene-Phenotype Associations 1.0 null abnormal circulating protein level MPO Gene-Phenotype Associations 1.0 null abnormality of the optic disc HPO Gene-Disease Associations 1.0 null Reduced Tendon Reflexes DisGeNET Gene-Phenotype Associations 1.0 null mitochondrial inheritance HPO Gene-Disease Associations 1.0 null abnormality of the oral cavity HPO Gene-Disease Associations 1.0 null transmitochondrial GeneRIF Biological Term Annotations 1.0 null coexistence GeneRIF Biological Term Annotations 1.0 null behavioral abnormality HPO Gene-Disease Associations 1.0 null visual impairment HPO Gene-Disease Associations 1.0 null Optic Atrophy HuGE Navigator Gene-Phenotype Associations 1.0 null abnormality of adrenal physiology HPO Gene-Disease Associations 1.0 null SW 1573 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -0.855503 macular degeneration GAD Gene-Disease Associations 1.0 null cerebral cortical atrophy HPO Gene-Disease Associations 1.0 null abnormality of pancreas physiology HPO Gene-Disease Associations 1.0 null HS 578T Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -0.865302 Maternally Inherited Leigh Syndrome DisGeNET Gene-Disease Associations 1.0 null Hyperthyroidism DisGeNET Gene-Disease Associations 1.0 null Death In Early Adulthood DisGeNET Gene-Phenotype Associations 1.0 null Hemianopsia DisGeNET Gene-Disease Associations 1.0 null Renal Insufficiency DisGeNET Gene-Disease Associations 1.0 null estradiol_homo sapiens_gpl570_gse5102 GEO Signatures of Differentially Expressed Genes for Small Molecules 1.0 null localized skin lesion HPO Gene-Disease Associations 1.0 null south GeneRIF Biological Term Annotations 1.0 null abnormal a wave shape MPO Gene-Phenotype Associations 1.0 null abnormality of the adrenal glands HPO Gene-Disease Associations 1.0 null hereditary GeneRIF Biological Term Annotations 1.0 null hsa-miR-125b-5p MiRTarBase microRNA Targets 1.0 null Skeletal Muscle Atrophy DisGeNET Gene-Phenotype Associations 1.0 null LN-18 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -2.31152 background GeneRIF Biological Term Annotations 1.0 null abnormality of the mouth HPO Gene-Disease Associations 1.0 null carboplatin_homo sapiens_gpl570_gse13525 GEO Signatures of Differentially Expressed Genes for Small Molecules -1.0 null abnormal b wave amplitude MPO Gene-Phenotype Associations 1.0 null brain very small HPO Gene-Disease Associations 1.0 null homeostasis/metabolism phenotype MPO Gene-Phenotype Associations 1.0 null Aphasia DisGeNET Gene-Disease Associations 1.0 null SNU-423 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.33472 Preexcitation Syndrome DisGeNET Gene-Disease Associations 1.0 null abnormality of the pancreas HPO Gene-Disease Associations 1.0 null transcriptional GeneRIF Biological Term Annotations 1.0 null Multiple Sclerosis HuGE Navigator Gene-Phenotype Associations 1.0 null abnormal cellular respiration MPO Gene-Phenotype Associations 1.0 null hsa-miR-99b-5p MiRTarBase microRNA Targets 1.0 null set GeneRIF Biological Term Annotations 1.0 null mammalian phenotype MPO Gene-Phenotype Associations 1.0 null Abnormal Vision DisGeNET Gene-Phenotype Associations 1.0 null hypertrichosis HPO Gene-Disease Associations 1.0 null Left Ventricular Hypertrophy DisGeNET Gene-Disease Associations 1.0 null Retinal Telangiectasia DisGeNET Gene-Disease Associations 1.0 null abnormal posterior eye segment morphology MPO Gene-Phenotype Associations 1.0 null Oxidative phosphorylation(Homo sapiens) WikiPathways Pathways 2014 1.0 null Hemorrhage CTD Gene-Disease Associations 1.0 1.06225 PC-3 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -0.835186 MDA-MB-330 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 0.832602 nadh dehydrogenase (quinone) activity GO Molecular Function Annotations 2015 1.0 null gingival overgrowth HPO Gene-Disease Associations 1.0 null abnormality of movement HPO Gene-Disease Associations 1.0 null cataract HPO Gene-Disease Associations 1.0 null Striatal Necrosis DisGeNET Gene-Disease Associations 1.0 null DLD-1 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 0.832602 hsa-miR-484 MiRTarBase microRNA Targets 1.0 null Cerebral Ventriculomegaly DisGeNET Gene-Phenotype Associations 1.0 null abnormal axial skeleton morphology HPO Gene-Disease Associations 1.0 null abnormality of oral mucosa HPO Gene-Disease Associations 1.0 null Diabetes Mellitus, Type 2 HuGE Navigator Gene-Phenotype Associations 1.0 null Stroke DisGeNET Gene-Phenotype Associations 1.0 null abnormality of the ocular region HPO Gene-Disease Associations 1.0 null Fatty Liver Disease DisGeNET Gene-Disease Associations 1.0 null complete GeneRIF Biological Term Annotations 1.0 null abnormality of skeletal morphology HPO Gene-Disease Associations 1.0 null abnormality of immune system physiology HPO Gene-Disease Associations 1.0 null Focal T2 Hyperintense Basal Ganglia Lesion DisGeNET Gene-Phenotype Associations 1.0 null OVMANA Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.12314 m10191tc GeneRIF Biological Term Annotations 1.0 null Hepatomegaly DisGeNET Gene-Phenotype Associations 1.0 null abnormality of the cerebellum HPO Gene-Disease Associations 1.0 null GTL-16 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -2.39396 generalized abnormality of skin HPO Gene-Disease Associations 1.0 null Optic Atrophies, Hereditary CTD Gene-Disease Associations 1.0 2.88009 diabetes mellitus HPO Gene-Disease Associations 1.0 null Polyneuropathy DisGeNET Gene-Disease Associations 1.0 null ethnic GeneRIF Biological Term Annotations 1.0 null abnormal hair quantity HPO Gene-Disease Associations 1.0 null amaurosis fugax HPO Gene-Disease Associations 1.0 null BJAB Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.97429 Wolff-Parkinson-White Syndrome DisGeNET Gene-Disease Associations 1.0 null Alzheimer Disease HuGE Navigator Gene-Phenotype Associations 1.0 null abnormal bleeding HPO Gene-Disease Associations 1.0 null ribavirin_homo sapiens_gpl570_gds4391 GEO Signatures of Differentially Expressed Genes for Small Molecules 1.0 null liver GeneRIF Biological Term Annotations 1.0 null Forgetful DisGeNET Gene-Phenotype Associations 1.0 null Peripheral Demyelinating Neuropathy DisGeNET Gene-Disease Associations 1.0 null modulate GeneRIF Biological Term Annotations 1.0 null OAW42 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 0.832602 abnormality of brain morphology HPO Gene-Disease Associations 1.0 null abnormality of the endocrine system HPO Gene-Disease Associations 1.0 null genetic diseases, inborn; hearing impairment; hearing loss GAD Gene-Disease Associations 1.0 null abnormality of the gingiva HPO Gene-Disease Associations 1.0 null Gastroparesis DisGeNET Gene-Disease Associations 1.0 null abnormality of globe location HPO Gene-Disease Associations 1.0 null abnormality of the cerebrum HPO Gene-Disease Associations 1.0 null hsa-miR-197-3p MiRTarBase microRNA Targets 1.0 null Blurred Vision DisGeNET Gene-Phenotype Associations 1.0 null abnormality of the pulmonary vasculature HPO Gene-Disease Associations 1.0 null Infantile Muscular Hypotonia DisGeNET Gene-Phenotype Associations 1.0 null PA-1 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -0.858717 OVSAHO Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -2.48129 Cardiac Conduction Abnormality DisGeNET Gene-Phenotype Associations 1.0 null nadh dehydrogenase activity GO Molecular Function Annotations 2015 1.0 null epidermal thickening HPO Gene-Disease Associations 1.0 null Spasticity, Ctcae DisGeNET Gene-Phenotype Associations 1.0 null cisplatin_homo sapiens_gds3910 GEO Signatures of Differentially Expressed Genes for Small Molecules 1.0 null NIH:OVCAR-3 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -0.917717 abnormality of the retina HPO Gene-Disease Associations 1.0 null Dental Caries DisGeNET Gene-Disease Associations 1.0 null abnormal protein level MPO Gene-Phenotype Associations 1.0 null Mitochondrial Diseases HuGE Navigator Gene-Phenotype Associations 1.0 null Myoclonic Epilepsy DisGeNET Gene-Disease Associations 1.0 null abnormality of skeletal maturation HPO Gene-Disease Associations 1.0 null thickened skin HPO Gene-Disease Associations 1.0 null nd3 GeneRIF Biological Term Annotations 1.0 null different GeneRIF Biological Term Annotations 1.0 null identification GeneRIF Biological Term Annotations 1.0 null abnormality of joint mobility HPO Gene-Disease Associations 1.0 null Multiple Glomerular Cysts DisGeNET Gene-Phenotype Associations 1.0 null catalytic activity GO Molecular Function Annotations 2015 1.0 null revealed GeneRIF Biological Term Annotations 1.0 null abnormality of the outer ear HPO Gene-Disease Associations 1.0 null G111 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -0.828639 Epilepsy DisGeNET Gene-Disease Associations 1.0 null Segmental Peripheral Demyelination/Remyelination DisGeNET Gene-Phenotype Associations 1.0 null abnormal neurite morphology MPO Gene-Phenotype Associations 1.0 null deficiency GeneRIF Biological Term Annotations 1.0 null attention deficit hyperactivity disorder HPO Gene-Disease Associations 1.0 null Disturbance Of Consciousness DisGeNET Gene-Phenotype Associations 1.0 null cardiac arrest HPO Gene-Disease Associations 1.0 null european GeneRIF Biological Term Annotations 1.0 null KMS-28PE Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 0.974957 Malabsorption DisGeNET Gene-Phenotype Associations 1.0 null cellular phenotype MPO Gene-Phenotype Associations 1.0 null abnormal homeostasis MPO Gene-Phenotype Associations 1.0 null Decreased Nerve Conduction Velocity DisGeNET Gene-Phenotype Associations 1.0 null hypertension HPO Gene-Disease Associations 1.0 null all HPO Gene-Disease Associations 1.0 null Orbital Separation Excessive DisGeNET Gene-Phenotype Associations 1.0 null nucleotide GeneRIF Biological Term Annotations 1.0 null abnormality of the macula HPO Gene-Disease Associations 1.0 null Oxidative phosphorylation(Mus musculus) WikiPathways Pathways 2014 1.0 null colorectal cancer GAD Gene-Disease Associations 1.0 null india GeneRIF Biological Term Annotations 1.0 null deferasirox_homo sapiens_gpl570_gds3558 GEO Signatures of Differentially Expressed Genes for Small Molecules 1.0 null abnormal mitochondrial proliferation MPO Gene-Phenotype Associations 1.0 null intestinal obstruction HPO Gene-Disease Associations 1.0 null abnormality of the gastrointestinal tract HPO Gene-Disease Associations 1.0 null Developmental Regression DisGeNET Gene-Disease Associations 1.0 null abnormality of the intestine HPO Gene-Disease Associations 1.0 null Disease HuGE Navigator Gene-Phenotype Associations 1.0 null Lactic Aciduria DisGeNET Gene-Phenotype Associations 1.0 null Central Visual Impairment DisGeNET Gene-Disease Associations 1.0 null variant GeneRIF Biological Term Annotations 1.0 null CAMA-1 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.09933 functional abnormality of the inner ear HPO Gene-Disease Associations 1.0 null Apnea DisGeNET Gene-Phenotype Associations 1.0 null decreased a-wave amplitude MGI Mouse Phenotype Associations 2023 1.0 null Leigh Disease DisGeNET Gene-Disease Associations 1.0 null Diabetes Mellitus DisGeNET Gene-Disease Associations 1.0 null Hyper-Beta-Alaninemia DisGeNET Gene-Phenotype Associations 1.0 null Arthrogryposis DisGeNET Gene-Disease Associations 1.0 null hsa-miR-10b-5p MiRTarBase microRNA Targets 1.0 null muscular hypotonia HPO Gene-Disease Associations 1.0 null HS 936.T Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 0.832602 Acidosis, Lactic DisGeNET Gene-Phenotype Associations 1.0 null HEP G2 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -0.858717 hyperactivity HPO Gene-Disease Associations 1.0 null ptosis HPO Gene-Disease Associations 1.0 null mitochondrial diseases GAD Gene-Disease Associations 1.0 null subcutaneous hemorrhage HPO Gene-Disease Associations 1.0 null a1555g GeneRIF Biological Term Annotations 1.0 null optic GeneRIF Biological Term Annotations 1.0 null nd5 GeneRIF Biological Term Annotations 1.0 null Low Tension Glaucoma HuGE Navigator Gene-Phenotype Associations 1.0 null Cachexia DisGeNET Gene-Phenotype Associations 1.0 null abnormality of the retinal pigment epithelium HPO Gene-Disease Associations 1.0 null g11778a GeneRIF Biological Term Annotations 1.0 null HCT-8 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.24376 headache HPO Gene-Disease Associations 1.0 null Ataxia DisGeNET Gene-Phenotype Associations 1.0 null t14484c GeneRIF Biological Term Annotations 1.0 null atrophy/degeneration affecting the central nervous system HPO Gene-Disease Associations 1.0 null influence GeneRIF Biological Term Annotations 1.0 null Hypoparathyroidism DisGeNET Gene-Disease Associations 1.0 null Short Stature, Ctcae DisGeNET Gene-Phenotype Associations 1.0 null Dysarthria DisGeNET Gene-Disease Associations 1.0 null Bulbar Signs DisGeNET Gene-Phenotype Associations 1.0 null phenotypic GeneRIF Biological Term Annotations 1.0 null lhoncausing GeneRIF Biological Term Annotations 1.0 null abnormality of the lens HPO Gene-Disease Associations 1.0 null abnormal nervous system electrophysiology HPO Gene-Disease Associations 1.0 null Gingival Overgrowth DisGeNET Gene-Phenotype Associations 1.0 null Hyporeflexia DisGeNET Gene-Phenotype Associations 1.0 null Optic Atrophy, Hereditary, Leber HuGE Navigator Gene-Phenotype Associations 1.0 null encephalopathies GeneRIF Biological Term Annotations 1.0 null Rotenone CTD Gene-Chemical Interactions 1.0 null Asthma_Epithelial Cell_GSE4302 GEO Signatures of Differentially Expressed Genes for Diseases 1.0 1.65687 OKAJIMA Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.69058 methotrexate_homo sapiens_gpl570_gse11440 GEO Signatures of Differentially Expressed Genes for Small Molecules 1.0 null Oxyphilic Adenoma DisGeNET Gene-Disease Associations 1.0 null A172 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.15876 LCLC-103H Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.18563 autistic behavior HPO Gene-Disease Associations 1.0 null abnormality of the lung HPO Gene-Disease Associations 1.0 null short stature HPO Gene-Disease Associations 1.0 null hsa-miR-149-5p MiRTarBase microRNA Targets 1.0 null Episodic Vomiting DisGeNET Gene-Phenotype Associations 1.0 null growth abnormality HPO Gene-Disease Associations 1.0 null abnormality of carbohydrate metabolism/homeostasis HPO Gene-Disease Associations 1.0 null Depression DisGeNET Gene-Disease Associations 1.0 null ectopic calcification HPO Gene-Disease Associations 1.0 null visual field defect HPO Gene-Disease Associations 1.0 null congenital contracture HPO Gene-Disease Associations 1.0 null Respiratory chain complex I (gamma subunit) mitochondrial CORUM Protein Complexes 1.0 null abnormality of peripheral nerves HPO Gene-Disease Associations 1.0 null functional respiratory abnormality HPO Gene-Disease Associations 1.0 null chinese GeneRIF Biological Term Annotations 1.0 null NCI-H1581 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.01644 A2780 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 0.877558 DV-90 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.56206 NCI-H2347 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -0.940737 molecular GeneRIF Biological Term Annotations 1.0 null mode of inheritance HPO Gene-Disease Associations 1.0 null Optic Atrophy, Hereditary, Leber CTD Gene-Disease Associations 1.0 2.88009 nd4 GeneRIF Biological Term Annotations 1.0 null abnormality of cation homeostasis HPO Gene-Disease Associations 1.0 null hypertelorism HPO Gene-Disease Associations 1.0 null abnormal mitochondrial physiology MGI Mouse Phenotype Associations 2023 1.0 null JHH-4 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.37208 Dwarfism DisGeNET Gene-Disease Associations 1.0 null Chorea DisGeNET Gene-Phenotype Associations 1.0 null Ragged-Red Muscle Fibers DisGeNET Gene-Phenotype Associations 1.0 null Inflammation CTD Gene-Disease Associations 1.0 1.21271 abnormality of hindbrain morphology HPO Gene-Disease Associations 1.0 null EJM Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 0.974957 premature loss of teeth HPO Gene-Disease Associations 1.0 null m13513ga GeneRIF Biological Term Annotations 1.0 null reduced tendon reflexes HPO Gene-Disease Associations 1.0 null Parkinson Disease HuGE Navigator Gene-Phenotype Associations 1.0 null Hypopigmented Skin Patch DisGeNET Gene-Phenotype Associations 1.0 null schizophrenia ; bipolar disorder GAD Gene-Disease Associations 1.0 null myoclonic GeneRIF Biological Term Annotations 1.0 null 928 MEL Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -0.845353 Slow Decrease In Visual Acuity DisGeNET Gene-Phenotype Associations 1.0 null Anterior Hypopituitarism DisGeNET Gene-Disease Associations 1.0 null night blindness HPO Gene-Disease Associations 1.0 null memory impairment HPO Gene-Disease Associations 1.0 null zinc acetate_homo sapiens_gds1617 GEO Signatures of Differentially Expressed Genes for Small Molecules 1.0 null morphological abnormality of the central nervous system HPO Gene-Disease Associations 1.0 null Optic Neuropathy DisGeNET Gene-Disease Associations 1.0 null respiratory insufficiency HPO Gene-Disease Associations 1.0 null pregnancy loss GAD Gene-Disease Associations 1.0 null goiter HPO Gene-Disease Associations 1.0 null decreased nerve conduction velocity HPO Gene-Disease Associations 1.0 null arose GeneRIF Biological Term Annotations 1.0 null KNS-62 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.81733 abnormality of dental structure HPO Gene-Disease Associations 1.0 null arthrogryposis multiplex congenita HPO Gene-Disease Associations 1.0 null abnormal axon morphology MPO Gene-Phenotype Associations 1.0 null SK-MM-2 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.09933 fivegeneration GeneRIF Biological Term Annotations 1.0 null transversion GeneRIF Biological Term Annotations 1.0 null aplasia/hypoplasia of the cerebrum HPO Gene-Disease Associations 1.0 null Nyctalopia DisGeNET Gene-Disease Associations 1.0 null abnormality of mitochondrial metabolism HPO Gene-Disease Associations 1.0 null Endometriosis_Endometrium_GSE7305 GEO Signatures of Differentially Expressed Genes for Diseases 1.0 1.37218 Optic Atrophy DisGeNET Gene-Disease Associations 1.0 null abnormality of thyroid morphology HPO Gene-Disease Associations 1.0 null abnormality of skin adnexa HPO Gene-Disease Associations 1.0 null pancreatitis HPO Gene-Disease Associations 1.0 null abnormal retinal layer morphology MPO Gene-Phenotype Associations 1.0 null increased mitochondrial fission MGI Mouse Phenotype Associations 2023 1.0 null abnormality of eye movement HPO Gene-Disease Associations 1.0 null abnormal sensory neuron morphology MPO Gene-Phenotype Associations 1.0 null mitochondrial GeneRIF Biological Term Annotations 1.0 null Icthyosis DisGeNET Gene-Disease Associations 1.0 null abnormal nerve conduction velocity HPO Gene-Disease Associations 1.0 null Delayed Puberty DisGeNET Gene-Phenotype Associations 1.0 null elevated pulmonary artery pressure HPO Gene-Disease Associations 1.0 null Autism DisGeNET Gene-Disease Associations 1.0 null abnormality of the upper urinary tract HPO Gene-Disease Associations 1.0 null Hypercalciuria DisGeNET Gene-Phenotype Associations 1.0 null seizures HPO Gene-Disease Associations 1.0 null arterial stenosis HPO Gene-Disease Associations 1.0 null apnea HPO Gene-Disease Associations 1.0 null cardiomyopathy HPO Gene-Disease Associations 1.0 null short attention span HPO Gene-Disease Associations 1.0 null cerebral ischemia HPO Gene-Disease Associations 1.0 null Malignant Neoplasm DisGeNET Gene-Disease Associations 1.0 null Dissection Of Aorta DisGeNET Gene-Disease Associations 1.0 null Leigh Syndrome Due To Mitochondrial Complex I Deficiency DisGeNET Gene-Disease Associations 1.0 null cisplatin_homo sapiens_gpl570_gse23553 GEO Signatures of Differentially Expressed Genes for Small Molecules 1.0 null abnormality of the optic nerve HPO Gene-Disease Associations 1.0 null Blepharoptosis DisGeNET Gene-Disease Associations 1.0 null plicamycin_homo sapiens_gpl570_gse25127 GEO Signatures of Differentially Expressed Genes for Small Molecules 1.0 null abnormal retinal neuronal layer morphology MPO Gene-Phenotype Associations 1.0 null cellular process GO Biological Process Annotations 2015 1.0 null abnormality of the head HPO Gene-Disease Associations 1.0 null single-organism cellular process GO Biological Process Annotations 2015 1.0 null MDA-MB-157 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.91675 NAMALWA Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 0.974957 Unspecified Visual Loss DisGeNET Gene-Phenotype Associations 1.0 null lipomatous tumor HPO Gene-Disease Associations 1.0 null Ventricular Dysfunction DisGeNET Gene-Phenotype Associations 1.0 null adrenal insufficiency HPO Gene-Disease Associations 1.0 null Glaucoma, Open-Angle HuGE Navigator Gene-Phenotype Associations 1.0 null hsa-miR-125a-5p MiRTarBase microRNA Targets 1.0 null therefore GeneRIF Biological Term Annotations 1.0 null mask-like facies HPO Gene-Disease Associations 1.0 null decreased a wave amplitude MPO Gene-Phenotype Associations 1.0 null ventriculomegaly HPO Gene-Disease Associations 1.0 null Abnormal Macular Morphology DisGeNET Gene-Phenotype Associations 1.0 null Drug-Induced Liver Injury CTD Gene-Disease Associations 1.0 1.56068 Ataxia HuGE Navigator Gene-Phenotype Associations 1.0 null organelle part GO Cellular Component Annotations 2015 1.0 null NCI-H716 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 0.877558 Feeding Difficulties In Infancy DisGeNET Gene-Phenotype Associations 1.0 null steatohepatitis GeneRIF Biological Term Annotations 1.0 null abnormality of the kidney HPO Gene-Disease Associations 1.0 null MM.1S Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.03404 abnormality of skull size HPO Gene-Disease Associations 1.0 null syndrome GeneRIF Biological Term Annotations 1.0 null Attention Deficit Disorder DisGeNET Gene-Disease Associations 1.0 null Anorexia DisGeNET Gene-Disease Associations 1.0 null Pancreatitis DisGeNET Gene-Disease Associations 1.0 null decreased myelin sheath thickness MPO Gene-Phenotype Associations 1.0 null abnormality of the anterior pituitary HPO Gene-Disease Associations 1.0 null ZR-75-1 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 0.925533 loss GeneRIF Biological Term Annotations 1.0 null MDA-MB-175-VII Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.24376 oxidoreductase activity GO Molecular Function Annotations 2015 1.0 null led GeneRIF Biological Term Annotations 1.0 null Chemical And Drug Induced Liver Injury DisGeNET Gene-Disease Associations 1.0 null G84 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -0.914433 organelle inner membrane GO Cellular Component Annotations 2015 1.0 null abnormality of peripheral nervous system electrophysiology HPO Gene-Disease Associations 1.0 null abnormality of blood and blood-forming tissues HPO Gene-Disease Associations 1.0 null involuntary movements HPO Gene-Disease Associations 1.0 null hsa-miR-328-3p MiRTarBase microRNA Targets 1.0 null Retinal Vascular Tortuosity DisGeNET Gene-Phenotype Associations 1.0 null haplogroup GeneRIF Biological Term Annotations 1.0 null Gait Ataxia DisGeNET Gene-Phenotype Associations 1.0 null mitochondrial inner membrane GO Cellular Component Annotations 2015 1.0 null abnormality of metabolism/homeostasis HPO Gene-Disease Associations 1.0 null nadh dehydrogenase (ubiquinone) activity GO Molecular Function Annotations 2015 1.0 null abnormality of the aorta HPO Gene-Disease Associations 1.0 null respiratory activity following radiotherapy GAD Gene-Disease Associations 1.0 null abnormal mitochondrion morphology MPO Gene-Phenotype Associations 1.0 null abnormality of the nephron HPO Gene-Disease Associations 1.0 null PA-TU-8902 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -0.997922 Heart Block DisGeNET Gene-Disease Associations 1.0 null Microcephaly DisGeNET Gene-Disease Associations 1.0 null Tremor DisGeNET Gene-Phenotype Associations 1.0 null NCI-H1838 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 0.832602 abnormality of adipose tissue HPO Gene-Disease Associations 1.0 null Nicotinamide Adenine Dinucleotide Coenzyme Q Reductase Deficiency DisGeNET Gene-Disease Associations 1.0 null vitamin c_homo sapiens_gpl570_gse11919 GEO Signatures of Differentially Expressed Genes for Small Molecules 1.0 null abnormal retinal pigmentation HPO Gene-Disease Associations 1.0 null skeletal muscle atrophy HPO Gene-Disease Associations 1.0 null BT-483 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.81733 Nausea And Vomiting DisGeNET Gene-Phenotype Associations 1.0 null HCC1599 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.13492 A-427 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.55184 abnormality of connective tissue HPO Gene-Disease Associations 1.0 null neoplasm by anatomical site HPO Gene-Disease Associations 1.0 null nephrotic syndrome HPO Gene-Disease Associations 1.0 null increased mitochondrial proliferation MPO Gene-Phenotype Associations 1.0 null Sudden Cardiac Death DisGeNET Gene-Phenotype Associations 1.0 null clinical GeneRIF Biological Term Annotations 1.0 null Multiple Lipomata DisGeNET Gene-Disease Associations 1.0 null Mitochondrial Dna Mutation DisGeNET Gene-Disease Associations 1.0 null Psychotic Episodes DisGeNET Gene-Disease Associations 1.0 null malabsorption HPO Gene-Disease Associations 1.0 null feeding difficulties HPO Gene-Disease Associations 1.0 null Klinefelter'S Syndrome - Male With More Than Two X Chromosomes DisGeNET Gene-Disease Associations 1.0 null Clonus DisGeNET Gene-Phenotype Associations 1.0 null clinical modifier HPO Gene-Disease Associations 1.0 null detected GeneRIF Biological Term Annotations 1.0 null abnormality of the abdomen HPO Gene-Disease Associations 1.0 null Ptosis DisGeNET Gene-Disease Associations 1.0 null Hemiparesis DisGeNET Gene-Phenotype Associations 1.0 null nonalcoholic GeneRIF Biological Term Annotations 1.0 null type i diabetes mellitus HPO Gene-Disease Associations 1.0 null growth delay HPO Gene-Disease Associations 1.0 null peripheral neuropathy HPO Gene-Disease Associations 1.0 null Necrosis CTD Gene-Disease Associations 1.0 1.14575 families GeneRIF Biological Term Annotations 1.0 null abnormality of cell physiology HPO Gene-Disease Associations 1.0 null T84 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.43295 HCC4011 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.35609 abnormal somatic nervous system morphology MPO Gene-Phenotype Associations 1.0 null abdominal symptom HPO Gene-Disease Associations 1.0 null abnormality of the anterior segment of the eye HPO Gene-Disease Associations 1.0 null point GeneRIF Biological Term Annotations 1.0 null Doxorubicin CTD Gene-Chemical Interactions 1.0 null intrinsic component of membrane GO Cellular Component Annotations 2015 1.0 null abnormality of the renal tubule HPO Gene-Disease Associations 1.0 null brain atrophy HPO Gene-Disease Associations 1.0 null HM7 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.79965 infantile GeneRIF Biological Term Annotations 1.0 null upper motor neuron dysfunction HPO Gene-Disease Associations 1.0 null abnormality of the urinary system physiology HPO Gene-Disease Associations 1.0 null Respiratory Insufficiency DisGeNET Gene-Phenotype Associations 1.0 null Melas Syndrome DisGeNET Gene-Disease Associations 1.0 null abnormality of cerebral artery HPO Gene-Disease Associations 1.0 null HCC1576 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.09005 abnormality of the vasculature HPO Gene-Disease Associations 1.0 null HCC44 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.1738 Hyperreflexia DisGeNET Gene-Phenotype Associations 1.0 null abnormal respiratory electron transport chain MPO Gene-Phenotype Associations 1.0 null abnormality of central nervous system electrophysiology HPO Gene-Disease Associations 1.0 null three GeneRIF Biological Term Annotations 1.0 null cellular_component GO Cellular Component Annotations 2015 1.0 null constipation HPO Gene-Disease Associations 1.0 null OVCAR-5 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.97429 abnormal retina ganglion cell morphology MGI Mouse Phenotype Associations 2023 1.0 null damage GeneRIF Biological Term Annotations 1.0 null abnormality of vision evoked potentials HPO Gene-Disease Associations 1.0 null hypopigmentation of the skin HPO Gene-Disease Associations 1.0 null congestive heart failure HPO Gene-Disease Associations 1.0 null abnormality of the pituitary gland HPO Gene-Disease Associations 1.0 null Tumor Cell Invasion DisGeNET Gene-Phenotype Associations 1.0 null known GeneRIF Biological Term Annotations 1.0 null spontaneous hematomas HPO Gene-Disease Associations 1.0 null abnormality of the metencephalon HPO Gene-Disease Associations 1.0 null abnormal peripheral nervous system morphology HPO Gene-Disease Associations 1.0 null PMC6781638__F4 PFOCR Pathway Figure Associations 2023 1.0 null abnormality of the orbital region HPO Gene-Disease Associations 1.0 null zinc acetate_homo sapiens_gpl570_gds1617 GEO Signatures of Differentially Expressed Genes for Small Molecules -1.0 null decreased b wave amplitude MPO Gene-Phenotype Associations 1.0 null abnormality of the parathyroid physiology HPO Gene-Disease Associations 1.0 null than GeneRIF Biological Term Annotations 1.0 null onset HPO Gene-Disease Associations 1.0 null Leber Plus Disease DisGeNET Gene-Disease Associations 1.0 null abnormal optic nerve morphology MPO Gene-Phenotype Associations 1.0 null decreased myelin sheath thickness MGI Mouse Phenotype Associations 2023 1.0 null abnormality of ion homeostasis HPO Gene-Disease Associations 1.0 null abnormal electroretinogram waveform feature MPO Gene-Phenotype Associations 1.0 null Poisoning CTD Gene-Disease Associations 1.0 1.61667 Sensorineural Hearing Loss (Disorder) DisGeNET Gene-Disease Associations 1.0 null COLO 849 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.33131 abnormal somatic sensory system morphology MPO Gene-Phenotype Associations 1.0 null Muscle Hypotonia DisGeNET Gene-Phenotype Associations 1.0 null abnormality of neuronal migration HPO Gene-Disease Associations 1.0 null Blurred Vision, Ctcae DisGeNET Gene-Phenotype Associations 1.0 null shows GeneRIF Biological Term Annotations 1.0 null Malformations Of Cortical Development DisGeNET Gene-Disease Associations 1.0 null abnormality of the pulmonary artery HPO Gene-Disease Associations 1.0 null integral component of membrane GO Cellular Component Annotations 2015 1.0 null abnormality of the genital system HPO Gene-Disease Associations 1.0 null abnormality of the eye HPO Gene-Disease Associations 1.0 null HCC366 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -0.924397 Cerebral Ischemia DisGeNET Gene-Disease Associations 1.0 null Intestinal Obstruction DisGeNET Gene-Disease Associations 1.0 null abnormality of forebrain morphology HPO Gene-Disease Associations 1.0 null abnormal cranial nerve morphology MPO Gene-Phenotype Associations 1.0 null weakness due to upper motor neuron dysfunction HPO Gene-Disease Associations 1.0 null epilepsy GeneRIF Biological Term Annotations 1.0 null biological_process GO Biological Process Annotations 2015 1.0 null Central Retinal Vessel Vascular Tortuosity DisGeNET Gene-Phenotype Associations 1.0 null Weight Loss CTD Gene-Disease Associations 1.0 1.33642 abnormal muscle tone HPO Gene-Disease Associations 1.0 null atrophy/degeneration affecting the cerebrum HPO Gene-Disease Associations 1.0 null oxidative phosphorylation KEGG Pathways 1.0 null developmental regression HPO Gene-Disease Associations 1.0 null abnormal cell physiology MPO Gene-Phenotype Associations 1.0 null Adenocarcinoma CTD Gene-Disease Associations 1.0 1.16434 NCI-H1568 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.67686 abnormal ph regulation MPO Gene-Phenotype Associations 1.0 null coxii GeneRIF Biological Term Annotations 1.0 null Cortical Visual Impairment DisGeNET Gene-Phenotype Associations 1.0 null Oxygen CTD Gene-Chemical Interactions 1.0 null myalgia HPO Gene-Disease Associations 1.0 null abnormality of the basal ganglia HPO Gene-Disease Associations 1.0 null PL-21 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.03404 glomerulopathy HPO Gene-Disease Associations 1.0 null hearing impairment HPO Gene-Disease Associations 1.0 null U-2 OS Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -0.898789 primary GeneRIF Biological Term Annotations 1.0 null lebers GeneRIF Biological Term Annotations 1.0 null penetrance GeneRIF Biological Term Annotations 1.0 null cisplatin_homo sapiens_gpl570_gds3910 GEO Signatures of Differentially Expressed Genes for Small Molecules 1.0 null missense GeneRIF Biological Term Annotations 1.0 null abnormal retina morphology MPO Gene-Phenotype Associations 1.0 null abnormal retinal ganglion cell morphology MPO Gene-Phenotype Associations 1.0 null pedigrees GeneRIF Biological Term Annotations 1.0 null mitochondrial part GO Cellular Component Annotations 2015 1.0 null abnormal cellular respiration MGI Mouse Phenotype Associations 2023 1.0 null g10680a GeneRIF Biological Term Annotations 1.0 null Cerebral Cortical Atrophy DisGeNET Gene-Disease Associations 1.0 null abnormal pyramidal signs HPO Gene-Disease Associations 1.0 null Growth Abnormality DisGeNET Gene-Phenotype Associations 1.0 null present GeneRIF Biological Term Annotations 1.0 null abdominal pain HPO Gene-Disease Associations 1.0 null Sensorineural Hearing Loss, Bilateral DisGeNET Gene-Disease Associations 1.0 null cognitive ability GAD Gene-Disease Associations 1.0 null abnormality of the cardiovascular system HPO Gene-Disease Associations 1.0 null nd6 GeneRIF Biological Term Annotations 1.0 null flexion contracture HPO Gene-Disease Associations 1.0 null Hypothyroidism DisGeNET Gene-Disease Associations 1.0 null abnormal optic nerve morphology MGI Mouse Phenotype Associations 2023 1.0 null abnormality of the nervous system HPO Gene-Disease Associations 1.0 null abnormal eye morphology HPO Gene-Disease Associations 1.0 null abnormal eye electrophysiology MGI Mouse Phenotype Associations 2023 1.0 null Electron Transport Chain(Mus musculus) WikiPathways Pathways 2014 1.0 null sensory neuropathy HPO Gene-Disease Associations 1.0 null Hypothermia, Natural DisGeNET Gene-Phenotype Associations 1.0 null Low Plasma Citrulline DisGeNET Gene-Phenotype Associations 1.0 null modeling GeneRIF Biological Term Annotations 1.0 null abnormality of the immune system HPO Gene-Disease Associations 1.0 null paresthesia HPO Gene-Disease Associations 1.0 null Pulmonary Arterial Hypertension DisGeNET Gene-Disease Associations 1.0 null leading GeneRIF Biological Term Annotations 1.0 null single-organism metabolic process GO Biological Process Annotations 2015 1.0 null abnormality of divalent inorganic cation homeostasis HPO Gene-Disease Associations 1.0 null EVSA-T Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 0.877558 inherited GeneRIF Biological Term Annotations 1.0 null mRNA_KLF4_19796622 ESCAPE Omics Signatures of Genes and Proteins for Stem Cells -1.0 null cognitive impairment HPO Gene-Disease Associations 1.0 null A-375 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.89734 Dementia DisGeNET Gene-Disease Associations 1.0 null leber optic atrophy HPO Gene-Disease Associations 1.0 null abnormality of the glomerulus HPO Gene-Disease Associations 1.0 null tremor HPO Gene-Disease Associations 1.0 null SR-786 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles -1.0 -1.00717 Constipation DisGeNET Gene-Phenotype Associations 1.0 null NCI-H1048 Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles 1.0 1.16277 Disease Susceptibility CTD Gene-Disease Associations 1.0 2.88009 presenting GeneRIF Biological Term Annotations 1.0 null Hyperventilation DisGeNET Gene-Phenotype Associations 1.0 null Non-Alcoholic Fatty Liver Disease DisGeNET Gene-Disease Associations 1.0 null Aplasia/Hypoplasia Of The Cerebellum DisGeNET Gene-Phenotype Associations 1.0 null Galactose CTD Gene-Chemical Interactions 1.0 null abnormality of the parathyroid gland HPO Gene-Disease Associations 1.0 null abnormality of head or neck HPO Gene-Disease Associations 1.0 null decreased GeneRIF Biological Term Annotations 1.0 null Visual Impairment DisGeNET Gene-Phenotype Associations 1.0 null Delayed Bone Age DisGeNET Gene-Phenotype Associations 1.0 null Severe Global Developmental Delay DisGeNET Gene-Phenotype Associations 1.0 null