Development Level

Tbio 15 | 11,445
Tchem 1 | 1,598
Tclin 1 | 613

IMPC Phenotype

preweaning lethality, complete... 6 | 979
embryonic lethality prior to o... 2 | 239
abnormal behavior 1 | 298
abnormal digit morphology 1 | 10
abnormal kidney morphology 1 | 65
decreased IgM level 1 | 1
decreased body weight 1 | 161
decreased bone mineral content 1 | 151
decreased lean body mass 1 | 135
decreased total body fat amoun... 1 | 207
embryonic lethality prior to t... 1 | 278
increased bone mineral content 1 | 108
increased circulating alkaline... 1 | 122
increased circulating amylase ... 1 | 25
increased circulating choleste... 1 | 66
increased circulating sodium l... 1 | 71
increased lean body mass 1 | 172
long tibia 1 | 25

Disease

Carcinoma 15 | 11,493
ovarian cancer 13 | 8,520
psoriasis 11 | 6,694
Cognitive delay 9 | 608
Global developmental delay 9 | 608
Mental and motor retardation 9 | 608
pancreatic ductal adenocarcinoma liver metastasis 9 | 1,962
Autosomal recessive predisposition 8 | 1,442
Cerebellar Ataxia 8 | 304
Multiple myeloma 8 | 1,332
Epilepsy 7 | 792
Muscle hypotonia 7 | 571
Seizures 6 | 596
glioblastoma 6 | 5,792
Chondroma 5 | 15
Dull intelligence 5 | 645
Intellectual disability 5 | 1,016
Low Vision 5 | 174
Low intelligence 5 | 645
Mental Retardation 5 | 645
Mental deficiency 5 | 645
Optic Atrophy 5 | 242
Paraganglioma 5 | 15
Persistent generalized lymphadenopathy 5 | 15
Poor school performance 5 | 645
Stomach Neoplasms 5 | 300
Visual Impairment 5 | 174
Von Hippel-Lindau disease 5 | 19
atypical teratoid / rhabdoid tumor 5 | 5,112
lung cancer 5 | 4,740
medulloblastoma, large-cell 5 | 6,241
osteosarcoma 5 | 7,950
Acidosis, Lactic 4 | 97
Breast cancer 4 | 3,578
Deglutition Disorders 4 | 132
Failure to gain weight 4 | 365
Gastrointestinal Hemorrhage 4 | 52
Gastrointestinal Stromal Tumors 4 | 48
Gastrointestinal stromal tumor 4 | 62
Hyperhidrosis disorder 4 | 81
Impaired cognition 4 | 96
Increased sweating 4 | 81
Infantile onset 4 | 238
Intestinal Obstruction 4 | 31
Lactic acidemia 4 | 95
Mental impairment 4 | 95
Multiple, subcutaneous nodules 4 | 53
Nystagmus 4 | 317
Papilloma 4 | 44
Pediatric failure to thrive 4 | 365
Phaeochromocytoma 4 | 20
Short stature 4 | 531
Subcutaneous nodule 4 | 53
Sweating 4 | 81
astrocytic glioma 4 | 2,597
breast carcinoma 4 | 1,638
ependymoma 4 | 4,679
group 3 medulloblastoma 4 | 4,104
ulcerative colitis 4 | 1,819
Abdominal Pain 3 | 98
Adult onset 3 | 82
Big calvaria 3 | 147
Cerebral atrophy 3 | 178
Congenital deafness 3 | 185
Constipation 3 | 181
Deafness 3 | 198
Degenerative polyarthritis 3 | 115
Dyschezia 3 | 135
Dystonia 3 | 164
Dystonic disease 3 | 106
Fatigue 3 | 182
Gastrointestinal Neoplasms 3 | 7
Hearing Loss, Partial 3 | 185
Heart failure 3 | 162
Hemangioma 3 | 69
Hemangioma, Cavernous 3 | 20
Highly variable clinical phenotype 3 | 150
Highly variable phenotype and severity 3 | 150
Highly variable phenotype, even within families 3 | 150
Hypertrophic Cardiomyopathy 3 | 117
Increased head circumference 3 | 147
Increased serum lactate 3 | 60
Increased size of cranium 3 | 147
Increased size of skull 3 | 147
Lipoma 3 | 32
Macroglossia 3 | 65
Melanocytic nevus 3 | 43
Nausea and vomiting 3 | 97
Noncancerous mole 3 | 28
Ophthalmoplegia 3 | 106
Osteoarthritis 3 | 184
Palmoplantar keratosis 3 | 74
Phenotypic variability 3 | 150
Respiratory Failure 3 | 104
Sarcoma 3 | 62
Sebaceous adenoma 3 | 26
Tachycardia 3 | 43
Tinnitus 3 | 19
Weight decreased 3 | 103
hearing impairment 3 | 199

Tissue

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

Target Family

Enzyme 17 | 4,145

WikiPathways Pathway

TCA Cycle 17 | 17
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
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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