Development Level

Tchem 14 | 1,598
Tbio 11 | 11,445
Tclin 2 | 613

IMPC Phenotype

preweaning lethality, complete... 8 | 979
abnormal embryo size 3 | 220
abnormal behavior 2 | 298
embryonic lethality prior to o... 2 | 239
embryonic lethality prior to t... 2 | 278
microphthalmia 2 | 26
abnormal body wall morphology 1 | 9
abnormal coat- hair morphology 1 | 19
abnormal embryo turning 1 | 31
abnormal forebrain development 1 | 20
abnormal hindbrain development 1 | 16
abnormal lens morphology 1 | 81
abnormal midbrain development 1 | 20
abnormal neural tube closure 1 | 46
abnormal retinal blood vessel ... 1 | 26
abnormal retinal vasculature m... 1 | 27
anophthalmia 1 | 33
cataract 1 | 92
decreased circulating triglyce... 1 | 79
embryonic growth retardation 1 | 106
hydrometra 1 | 53
impaired glucose tolerance 1 | 75
increased body length 1 | 32
increased circulating HDL chol... 1 | 80
increased circulating choleste... 1 | 66
increased erythrocyte cell num... 1 | 39
increased hematocrit 1 | 46
increased total body fat amoun... 1 | 134
small epididymis 1 | 3
small seminal vesicle 1 | 10
small testis 1 | 58

Disease

ovarian cancer 18 | 8,520
Carcinoma 16 | 11,493
pancreatic ductal adenocarcinoma liver metastasis 16 | 1,962
osteosarcoma 13 | 7,950
psoriasis 13 | 6,694
intraductal papillary-mucinous adenoma (IPMA) 12 | 2,955
intraductal papillary-mucinous carcinoma (IPMC) 12 | 2,989
intraductal papillary-mucinous neoplasm (IPMN) 12 | 3,291
malignant mesothelioma 12 | 3,232
medulloblastoma, large-cell 11 | 6,241
ductal carcinoma in situ 9 | 1,745
Autosomal recessive predisposition 8 | 1,442
Cognitive delay 8 | 608
Global developmental delay 8 | 608
Mental and motor retardation 8 | 608
Pick disease 8 | 1,894
active Crohn's disease 8 | 922
Breast cancer 7 | 3,578
Seizures 7 | 596
lung cancer 7 | 4,740
Antley-Bixler syndrome 6 | 16
Cataract 6 | 297
Epilepsy 6 | 792
Failure to gain weight 6 | 365
Intellectual disability 6 | 1,016
Muscle hypotonia 6 | 571
Pediatric failure to thrive 6 | 365
Smith-Lemli-Opitz syndrome 6 | 9
group 4 medulloblastoma 6 | 1,855
invasive ductal carcinoma 6 | 2,951
pancreatic cancer 6 | 2,398
Chondrodysplasia punctata 5 | 41
Dull intelligence 5 | 645
Low intelligence 5 | 645
Mental Retardation 5 | 645
Mental deficiency 5 | 645
Multiple myeloma 5 | 1,332
Poor school performance 5 | 645
Waldenstrons macroglobulinemia 5 | 765
group 3 medulloblastoma 5 | 4,104
interstitial cystitis 5 | 2,312
oligodendroglioma 5 | 2,850
Cancer 4 | 2,499
Congenital Epicanthus 4 | 177
Congenital ichthyosiform erythroderma 4 | 28
Hydrolethalus syndrome 4 | 128
Hypoplastic mandible condyle 4 | 275
Lens Opacities 4 | 231
Low set ears 4 | 181
Mandibular hypoplasia 4 | 275
Mevalonic aciduria 4 | 16
Micrognathism 4 | 275
Nystagmus 4 | 317
Porokeratosis of Mibelli 4 | 4
Small head 4 | 374
Stippled epiphyses 4 | 28
active ulcerative colitis 4 | 764
atypical teratoid / rhabdoid tumor 4 | 5,112
chronic rhinosinusitis 4 | 512
ependymoma 4 | 4,679
glioblastoma 4 | 5,792
subependymal giant cell astrocytoma 4 | 2,287
Anteverted nostril 3 | 191
Blepharoptosis 3 | 231
Byzanthine arch palate 3 | 194
Carcinoma, Hepatocellular 3 | 228
Congenital deafness 3 | 185
Deafness 3 | 198
Elevated hepatic transaminases 3 | 81
Fibular polydactyly 3 | 12
Hearing Loss, Partial 3 | 185
Hepatic enzyme increased 3 | 81
Hepatomegaly 3 | 285
Hydronephrosis 3 | 89
Ichthyosis 3 | 56
Liver Dysfunction 3 | 99
Liver carcinoma 3 | 240
Liver enzymes abnormal 3 | 81
Liver function test increased 3 | 81
Liver function tests abnormal finding 3 | 81
Polyhydramnios 3 | 108
Postaxial foot polydactyly 3 | 12
Posteriorly rotated ear 3 | 61
Short stature 3 | 531
Strabismus 3 | 270
Subclinical abnormal liver function tests 3 | 81
Transaminases increased 3 | 81
Ulnar polydactyly of fingers 3 | 47
Vomiting 3 | 116
adrenocortical carcinoma 3 | 1,428
adult high grade glioma 3 | 3,801
astrocytic glioma 3 | 2,597
astrocytoma 3 | 1,146
beta-ketothiolase deficiency 3 | 13
colon cancer 3 | 1,478
esophageal adenocarcinoma 3 | 737
lung adenocarcinoma 3 | 2,716
non-small cell lung cancer 3 | 2,890
pituitary cancer 3 | 1,972
spina bifida 3 | 1,074

Tissue

Cardiovascular System 27 | 15,192
Digestive Tract 27 | 17,369
Endocrine System 27 | 18,159
Male tissues 27 | 17,142
Nervous System 27 | 16,725
Skin and soft tissues 27 | 17,230
Blood and immune system 26 | 16,909
Female tissues 26 | 17,400
Liver and Pancreas 26 | 16,750
Respiratory system 26 | 16,393
Urinary Tract 26 | 16,678

Target Family

Enzyme 25 | 4,145
Epigenetic 1 | 242
Kinase 1 | 634

PathwayCommons: humancyc Pathway

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This is where graphics are reside..
Name Gene Development Level Target Family Log Novelty  Pubmed Score  Antibody Count  Knowledge Availability 
Hydroxymethylglutaryl-CoA synthase, mitochondrial HMGCS2 Tbio Enzyme -1.74279 54.0 126
Hydroxymethylglutaryl-CoA synthase, cytoplasmic HMGCS1 Tchem Enzyme -1.67608 43.7 137
Delta(14)-sterol reductase TM7SF2 Tbio Enzyme -1.10571 12.4 88
Diphosphomevalonate decarboxylase MVD Tchem Enzyme -2.09917 118.7 136
Lathosterol oxidase SC5D Tbio Enzyme -1.42233 28.3 26
7-dehydrocholesterol reductase DHCR7 Tchem Enzyme -2.44252 276.5 109
Lanosterol synthase LSS Tchem Enzyme -2.22381 150.1 87
Phosphomevalonate kinase PMVK Tchem Enzyme -1.96385 92.3 144
Squalene monooxygenase SQLE Tchem Enzyme -1.89887 71.9 109
Methylsterol monooxygenase 1 MSMO1 Tbio Enzyme -1.64987 43.8 106