Development Level

Tclin 41 | 613
Tbio 14 | 11,445
Tdark 3 | 6,588
Tchem 2 | 1,598

IMPC Phenotype

preweaning lethality, complete... 8 | 979
cataract 2 | 92
embryonic lethality prior to o... 2 | 239
abnormal allantois morphology 1 | 8
abnormal behavior 1 | 298
abnormal chorioallantoic fusio... 1 | 8
abnormal embryo development 1 | 7
abnormal embryo size 1 | 220
abnormal embryo turning 1 | 31
abnormal heart morphology 1 | 162
abnormal lens morphology 1 | 81
abnormal neural tube morpholog... 1 | 12
abnormal tail movements 1 | 12
abnormal visceral yolk sac mor... 1 | 6
abnormal vitelline vasculature... 1 | 6
decreased circulating choleste... 1 | 93
decreased circulating triglyce... 1 | 79
decreased erythrocyte cell num... 1 | 62
decreased lactate dehydrogenas... 1 | 16
decreased total retina thickne... 1 | 17
decreased vertical activity 1 | 208
embryonic growth retardation 1 | 106
embryonic lethality prior to t... 1 | 278
hemorrhage 1 | 23
hypoactivity 1 | 132
increased circulating calcium ... 1 | 34
increased circulating phosphat... 1 | 26
increased grip strength 1 | 41
increased heart weight 1 | 62
increased lean body mass 1 | 172
narrow eye opening 1 | 12
pale yolk sac 1 | 25
pallor 1 | 34

Disease

Diabetes mellitus type 2 41 | 69
Treatment Refractory Type 2 Diabetes Mellitus 41 | 53
ovarian cancer 38 | 8,520
Multiple myeloma 32 | 1,332
Mitochondrial complex I deficiency 24 | 46
Leigh disease 22 | 100
Cerebellar Ataxia 19 | 304
osteosarcoma 19 | 7,950
Acidosis, Lactic 17 | 97
Epilepsy 17 | 792
Lactic acidemia 17 | 95
lung cancer 17 | 4,740
Blepharoptosis 16 | 231
Sensorineural Hearing Loss (disorder) 16 | 284
Autosomal recessive predisposition 15 | 1,442
Mitochondrial Complex 1 Deficiency 15 | 28
Dystonia 14 | 164
Leigh syndrome 14 | 28
NADH:Q(1) Oxidoreductase deficiency 14 | 24
Nystagmus 14 | 317
Seizures 14 | 596
Cognitive delay 13 | 608
Dystonic disease 13 | 106
Failure to gain weight 13 | 365
Global developmental delay 13 | 608
Mental and motor retardation 13 | 608
Muscle hypotonia 13 | 571
Optic Atrophy 13 | 242
Pediatric failure to thrive 13 | 365
pancreatic ductal adenocarcinoma liver metastasis 13 | 1,962
Abnormal mitochondria in muscle tissue 12 | 20
CSF lactate increased 12 | 33
Developmental regression 12 | 95
Highly variable clinical phenotype 12 | 150
Highly variable phenotype and severity 12 | 150
Highly variable phenotype, even within families 12 | 150
Hyperreflexia 12 | 209
Loss of developmental milestones 12 | 95
Mental deterioration in childhood 12 | 95
Muscle Spasticity 12 | 195
Muscle Weakness 12 | 170
Neurodevelopmental regression 12 | 95
Phenotypic variability 12 | 150
Psychomotor regression 12 | 95
Psychomotor regression beginning in infancy 12 | 95
Psychomotor regression in infants 12 | 95
Psychomotor regression, progressive 12 | 95
Respiratory Failure 12 | 104
Strabismus 12 | 270
astrocytic glioma 12 | 2,597
psoriasis 12 | 6,694
Carcinoma 11 | 11,493
Increased serum lactate 10 | 60
Blind Vision 9 | 111
Blindness, Legal 9 | 110
Hypertrophic Cardiomyopathy 9 | 117
Mitochondrial myopathy 9 | 26
Ophthalmoplegia 9 | 106
Retinitis Pigmentosa 9 | 226
Waldenstrons macroglobulinemia 9 | 765
Acute necrotizing encephalopathy 8 | 14
Atrophy of cerebellum 8 | 103
Babinski Reflex 8 | 100
Brain Edema 8 | 50
Cerebellar degeneration 8 | 103
Cerebral Edema 8 | 30
Comatose 8 | 56
Decreased tendon reflex 8 | 122
Dull intelligence 8 | 645
Feeding difficulties in infancy 8 | 175
Growth delay 8 | 114
Growth failure 8 | 114
Growth retardation 8 | 115
Hypoglycemia 8 | 152
Impaired exercise tolerance 8 | 42
Infratentorial atrophy 8 | 103
Intellectual disability 8 | 1,016
Leber's optic atrophy 8 | 10
Lethargy 8 | 77
Leukodystrophy 8 | 55
Liver Failure 8 | 73
Low intelligence 8 | 645
Mental Retardation 8 | 645
Mental deficiency 8 | 645
Neurogenic Muscular Atrophy 8 | 139
Neurogenic muscle atrophy, especially in the lower limbs 8 | 139
Pallor of optic disc 8 | 39
Peripheral Neuropathy 8 | 134
Poor growth 8 | 114
Poor school performance 8 | 645
Progressive macrocephaly 8 | 18
Skeletal muscle atrophy 8 | 139
Very poor growth 8 | 114
Vomiting 8 | 116
X-linked dominant 8 | 57
diabetes mellitus 8 | 1,728
medulloblastoma, large-cell 8 | 6,241
muscle degeneration 8 | 139
Infantile onset 7 | 238
Myopathy 7 | 185

Tissue

Blood and immune system 60 | 16,909
Cardiovascular System 60 | 15,192
Digestive Tract 60 | 17,369
Endocrine System 60 | 18,159
Female tissues 60 | 17,400
Liver and Pancreas 60 | 16,750
Male tissues 60 | 17,142
Nervous System 60 | 16,725
Respiratory system 60 | 16,393
Skin and soft tissues 60 | 17,230
Urinary Tract 60 | 16,678

Target Family

Enzyme 58 | 4,145
Non-IDG 2 | 12,091

WikiPathways Pathway

Oxidative phosphorylation 60 | 60
PI3K-Akt Signaling Pathway 338 | 338
Focal Adhesion-PI3K-Akt-mTOR-s... 303 | 303
GPCRs, Class A Rhodopsin-like 258 | 258
MAPK Signaling Pathway 245 | 245
VEGFA-VEGFR2 Signaling Pathway 235 | 235
Focal Adhesion 206 | 206
Circadian rythm related genes 200 | 200
Vitamin D Receptor Pathway 196 | 196
Ras Signaling 182 | 182
Metapathway biotransformation ... 172 | 172
Allograft Rejection 168 | 168
Chemokine signaling pathway 164 | 164
EGF/EGFR Signaling Pathway 162 | 162
Insulin Signaling 160 | 160
EMT transition in Colorectal C... 159 | 159
Myometrial Relaxation and Cont... 159 | 159
Sudden Infant Death Syndrome (... 157 | 157
Calcium Regulation in the Card... 152 | 152
Integrated Breast Cancer Pathw... 152 | 152
Regulation of Actin Cytoskelet... 149 | 149
Mesodermal Commitment Pathway 147 | 147
Brain-Derived Neurotrophic Fac... 144 | 144
NRF2 pathway 143 | 143
Endoderm Differentiation 141 | 141
Ectoderm Differentiation 138 | 138
Regulation of toll-like recept... 138 | 138
Wnt Signaling Pathway 135 | 135
Angiopoietin Like Protein 8 Re... 132 | 132
TGF-beta Signaling Pathway 132 | 132
Adipogenesis 130 | 130
Proteasome Degradation 129 | 129
mRNA Processing 125 | 125
ESC Pluripotency Pathways 116 | 116
Spinal Cord Injury 116 | 116
DNA Damage Response (only ATM ... 112 | 112
Senescence and Autophagy in Ca... 106 | 106
Cell Cycle 104 | 104
Electron Transport Chain 103 | 103
Neural Crest Differentiation 101 | 101
Toll-like Receptor Signaling P... 101 | 101
Wnt Signaling Pathway and Plur... 101 | 101
Integrin-mediated Cell Adhesio... 100 | 100
B Cell Receptor Signaling Path... 97 | 97
Corticotropin-releasing hormon... 95 | 95
G Protein Signaling Pathways 94 | 94
Amino Acid metabolism 92 | 92
Apoptosis Modulation and Signa... 92 | 92
GPCRs, Other 92 | 92
TNF alpha Signaling Pathway 92 | 92
T-Cell antigen Receptor (TCR) ... 90 | 90
Androgen receptor signaling pa... 89 | 89
Cytoplasmic Ribosomal Proteins 89 | 89
Retinoblastoma (RB) in Cancer 87 | 87
Apoptosis 86 | 86
Selenium Micronutrient Network 85 | 85
Pyrimidine metabolism 84 | 84
Signaling Pathways in Glioblas... 83 | 83
Alzheimers Disease 82 | 82
MicroRNAs in cardiomyocyte hyp... 82 | 82
DNA IR-damage and cellular res... 80 | 80
Notch Signaling Pathway 79 | 79
Leptin signaling pathway 76 | 76
Prolactin Signaling Pathway 76 | 76
Peptide GPCRs 75 | 75
Arrhythmogenic Right Ventricul... 74 | 74
Chromosomal and microsatellite... 74 | 74
miRNA Regulation of DNA Damage... 73 | 73
Primary Focal Segmental Glomer... 72 | 72
Type II interferon signaling (... 71 | 71
DNA Damage Response 69 | 69
G1 to S cell cycle control 69 | 69
Parkin-Ubiquitin Proteasomal S... 69 | 69
Sterol Regulatory Element-Bind... 69 | 69
AMP-activated Protein Kinase (... 68 | 68
Human Thyroid Stimulating Horm... 68 | 68
PPAR signaling pathway 67 | 67
Rac1/Pak1/p38/MMP-2 pathway 67 | 67
AGE/RAGE pathway 66 | 66
Association Between Physico-Ch... 66 | 66
Folate Metabolism 65 | 65
Oncostatin M Signaling Pathway 65 | 65
Lung fibrosis 64 | 64
Pathways Affected in Adenoid C... 64 | 64
Endometrial cancer 63 | 63
Endochondral Ossification 62 | 62
MECP2 and Associated Rett Synd... 62 | 62
Oxidation by Cytochrome P450 62 | 62
TYROBP Causal Network 61 | 61
T-Cell antigen Receptor (TCR) ... 60 | 60
Complement and Coagulation Cas... 59 | 59
Kit receptor signaling pathway 59 | 59
RIG-I-like Receptor Signaling 59 | 59
Preimplantation Embryo 58 | 58
DNA IR-Double Strand Breaks (D... 56 | 56
IL-1 signaling pathway 55 | 55
MET in type 1 papillary renal ... 55 | 55
RANKL/RANK (Receptor activator... 55 | 55
Pathogenic Escherichia coli in... 54 | 54
TGF-beta Receptor Signaling 54 | 54

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