Development Level

Tbio 53 | 11,651
Tclin 42 | 612
Tdark 6 | 6,593
Tchem 2 | 1,388

IMPC Phenotype

preweaning lethality, complete... 17 | 979
embryonic lethality prior to o... 6 | 239
abnormal embryo size 4 | 220
cataract 4 | 92
embryonic lethality prior to t... 4 | 278
pallor 4 | 34
abnormal lens morphology 3 | 81
abnormal behavior 2 | 298
abnormal placenta size 2 | 20
abnormal skin coloration 2 | 25
decreased circulating chloride... 2 | 30
decreased erythrocyte cell num... 2 | 62
decreased vertical activity 2 | 208
embryonic growth retardation 2 | 106
increased circulating alkaline... 2 | 122
increased circulating calcium ... 2 | 34
increased heart weight 2 | 62
abnormal allantois morphology 1 | 8
abnormal chorioallantoic fusio... 1 | 8
abnormal embryo development 1 | 7
abnormal embryo turning 1 | 31
abnormal embryonic autopod pla... 1 | 2
abnormal heart morphology 1 | 162
abnormal hindbrain development 1 | 16
abnormal kidney morphology 1 | 65
abnormal limb bud morphology 1 | 17
abnormal liver size 1 | 5
abnormal midbrain development 1 | 20
abnormal neural tube closure 1 | 46
abnormal neural tube morpholog... 1 | 12
abnormal placenta development 1 | 1
abnormal placenta morphology 1 | 5
abnormal tail movements 1 | 12
abnormal visceral yolk sac mor... 1 | 6
abnormal vitelline vasculature... 1 | 6
decreased bone mineral content 1 | 151
decreased circulating choleste... 1 | 93
decreased circulating creatini... 1 | 39
decreased circulating iron lev... 1 | 32
decreased circulating phosphat... 1 | 27
decreased circulating triglyce... 1 | 79
decreased hematocrit 1 | 46
decreased hemoglobin content 1 | 68
decreased lactate dehydrogenas... 1 | 16
decreased lean body mass 1 | 135
decreased lymphocyte cell numb... 1 | 83
decreased mean corpuscular hem... 1 | 50
decreased mean corpuscular vol... 1 | 79
decreased total retina thickne... 1 | 17
enlarged heart atrium 1 | 4
hemorrhage 1 | 23
hyperactivity 1 | 148
hypoactivity 1 | 132
improved glucose tolerance 1 | 79
increased blood urea nitrogen ... 1 | 48
increased bone mineral content 1 | 108
increased circulating glucose ... 1 | 24
increased circulating phosphat... 1 | 26
increased circulating sodium l... 1 | 71
increased fasted circulating g... 1 | 76
increased grip strength 1 | 41
increased lean body mass 1 | 172
increased monocyte cell number 1 | 63
narrow eye opening 1 | 12
pale liver 1 | 6
pale yolk sac 1 | 25
prenatal lethality 1 | 28
prenatal lethality prior to he... 1 | 87
small superior vagus ganglion 1 | 74

Disease

ovarian cancer 60 | 8,520
Multiple myeloma 48 | 1,332
Diabetes mellitus type 2 42 | 69
Treatment Refractory Type 2 Diabetes Mellitus 42 | 53
Cerebellar Ataxia 35 | 304
Leigh disease 34 | 100
osteosarcoma 30 | 7,950
Acidosis, Lactic 29 | 97
Lactic acidemia 29 | 95
Blepharoptosis 28 | 231
Autosomal recessive predisposition 27 | 1,442
lung cancer 27 | 4,740
Mitochondrial complex I deficiency 26 | 46
Sensorineural Hearing Loss (disorder) 26 | 284
psoriasis 26 | 6,694
Cognitive delay 25 | 608
Global developmental delay 25 | 608
Mental and motor retardation 25 | 608
Epilepsy 24 | 792
Carcinoma 23 | 11,493
Muscle hypotonia 22 | 571
Optic Atrophy 22 | 242
Seizures 22 | 596
pancreatic ductal adenocarcinoma liver metastasis 22 | 1,962
Dystonia 21 | 164
Increased serum lactate 21 | 60
Nystagmus 21 | 317
Dystonic disease 20 | 106
Failure to gain weight 20 | 365
Pediatric failure to thrive 20 | 365
astrocytic glioma 20 | 2,597
glioblastoma 20 | 5,792
medulloblastoma, large-cell 20 | 6,241
CSF lactate increased 19 | 33
Developmental regression 19 | 95
Hyperreflexia 19 | 209
Leigh syndrome 19 | 28
Loss of developmental milestones 19 | 95
Mental deterioration in childhood 19 | 95
Muscle Weakness 19 | 170
Neurodevelopmental regression 19 | 95
Psychomotor regression 19 | 95
Psychomotor regression beginning in infancy 19 | 95
Psychomotor regression in infants 19 | 95
Psychomotor regression, progressive 19 | 95
Highly variable clinical phenotype 18 | 150
Highly variable phenotype and severity 18 | 150
Highly variable phenotype, even within families 18 | 150
Muscle Spasticity 18 | 195
Phenotypic variability 18 | 150
Strabismus 18 | 270
Hypertrophic Cardiomyopathy 17 | 117
Ophthalmoplegia 17 | 106
Respiratory Failure 17 | 104
Waldenstrons macroglobulinemia 17 | 765
atypical teratoid / rhabdoid tumor 17 | 5,112
Abnormal mitochondria in muscle tissue 16 | 20
Dull intelligence 16 | 645
Intellectual disability 16 | 1,016
Low intelligence 16 | 645
Mental Retardation 16 | 645
Mental deficiency 16 | 645
Mitochondrial Complex 1 Deficiency 16 | 28
Poor school performance 16 | 645
diabetes mellitus 16 | 1,728
ependymoma 16 | 4,679
Impaired exercise tolerance 15 | 42
NADH:Q(1) Oxidoreductase deficiency 15 | 24
Retinitis Pigmentosa 15 | 226
Mitochondrial myopathy 13 | 26
adult high grade glioma 13 | 3,801
Babinski Reflex 12 | 100
Breast cancer 12 | 3,578
Hypoglycemia 12 | 152
Myopathy 12 | 185
Ragged-red fibers 12 | 21
oligodendroglioma 12 | 2,850
Blind Vision 11 | 111
Blindness, Legal 11 | 110
Comatose 11 | 56
Decreased tendon reflex 11 | 122
Heart failure 11 | 162
Leber hereditary optic neuropathy 11 | 14
Lethargy 11 | 77
Neurogenic Muscular Atrophy 11 | 139
Neurogenic muscle atrophy, especially in the lower limbs 11 | 139
Skeletal muscle atrophy 11 | 139
Vomiting 11 | 116
X-linked dominant 11 | 57
astrocytoma 11 | 1,146
intraductal papillary-mucinous neoplasm (IPMN) 11 | 3,291
muscle degeneration 11 | 139
Atrophy of cerebellum 10 | 103
Cerebellar degeneration 10 | 103
Growth retardation 10 | 115
Infantile onset 10 | 238
Infratentorial atrophy 10 | 103
Progressive disorder 10 | 142
Schizophrenia 10 | 1,160
breast carcinoma 10 | 1,638

Tissue

Cardiovascular System 103 | 15,192
Digestive Tract 103 | 17,369
Endocrine System 103 | 18,159
Female tissues 103 | 17,400
Liver and Pancreas 103 | 16,750
Blood and immune system 102 | 16,909
Male tissues 102 | 17,142
Nervous System 102 | 16,725
Skin and soft tissues 102 | 17,230
Urinary Tract 102 | 16,678
Respiratory system 101 | 16,393

Target Family

Enzyme 85 | 4,145
Non-IDG 13 | 12,091
Transporter 5 | 473

WikiPathways Pathway

Electron Transport Chain 103 | 103
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
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
Oxidative phosphorylation 60 | 60
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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