Development Level

Tbio 5 | 11,445
Tchem 3 | 1,598

IMPC Phenotype

male infertility 2 | 123
decreased circulating alanine ... 1 | 47
decreased mean corpuscular hem... 1 | 50
decreased total body fat amoun... 1 | 207
increased bone mineral content 1 | 108
increased circulating alkaline... 1 | 122
increased circulating amylase ... 1 | 25
increased circulating magnesiu... 1 | 10
increased grip strength 1 | 41
increased lean body mass 1 | 172
increased mean platelet volume 1 | 45
preweaning lethality, incomple... 1 | 499
thrombocytopenia 1 | 56
tremors 1 | 39

Disease

Carcinoma 7 | 11,493
medulloblastoma, large-cell 5 | 6,241
ovarian cancer 4 | 8,520
atypical teratoid / rhabdoid tumor 3 | 5,112
ependymoma 3 | 4,679
malignant mesothelioma 3 | 3,232
osteosarcoma 3 | 7,950
psoriasis 3 | 6,694
Astrocytoma, Pilocytic 2 | 3,081
Niemann-Pick disease 2 | 14
active Crohn's disease 2 | 922
active ulcerative colitis 2 | 764
colon cancer 2 | 1,478
glioblastoma 2 | 5,792
lung carcinoma 2 | 2,843
tuberculosis 2 | 2,010
Athetosis 1 | 16
Autosomal recessive nonsyndromic deafness 89 1 | 6
Autosomal recessive predisposition 1 | 1,442
Breast cancer 1 | 3,578
Cancer 1 | 2,499
Ceroid lipofuscinosis neuronal 6 1 | 2
Cherry red spot of the macula 1 | 7
Cognitive delay 1 | 608
Constipation 1 | 181
Decreased tendon reflex 1 | 122
Dentinogenesis imperfecta 1 | 25
Disorder of macula of retina 1 | 6
Diverticulitis 1 | 11
Down syndrome 1 | 499
Dull intelligence 1 | 645
Dyschezia 1 | 135
Dyspnea 1 | 76
Failure to gain weight 1 | 365
Feeding difficulties in infancy 1 | 175
Fetal alcohol spectrum disorder 1 | 7
Global developmental delay 1 | 608
Hepatomegaly 1 | 285
High density lipoprotein decreased 1 | 10
Highly variable clinical phenotype 1 | 150
Highly variable phenotype and severity 1 | 150
Highly variable phenotype, even within families 1 | 150
Hypercholesterolemia, Familial 1 | 23
Hypertriglyceridemia result 1 | 37
Hypoalphalipoproteinemias 1 | 10
Infantile onset 1 | 238
Iron-Refractory Iron Deficiency Anemia 1 | 15
Kidney Diseases 1 | 114
Large vacuolated foam cells ('NP cells') on bone marrow biopsy 1 | 5
Leukemia 1 | 104
Low density lipoprotein increased 1 | 8
Low intelligence 1 | 645
Lymphadenopathy 1 | 62
MYELODYSPLASTIC SYNDROME 1 | 53
Mental Retardation 1 | 645
Mental and motor retardation 1 | 608
Mental deficiency 1 | 645
Muscle Rigidity 1 | 49
Muscle Spasticity 1 | 195
Muscle Weakness 1 | 170
Muscle hypotonia 1 | 571
Myelodysplastic Syndromes 1 | 26
Narcissistic personality disorder 1 | 2
Neonatal Jaundice 1 | 30
Neoplasm Invasiveness 1 | 161
Neurodegenerative disease 1 | 414
Osteogenesis imperfecta 1 | 34
Osteoporosis 1 | 363
Pediatric failure to thrive 1 | 365
Phenotypic variability 1 | 150
Poor school performance 1 | 645
Prolonged neonatal jaundice 1 | 17
Protuberant abdomen 1 | 16
Recurrent respiratory infections 1 | 141
Rheumatoid arthritis 1 | 1,191
Sea-Blue Histiocyte Syndrome 1 | 7
Short stature 1 | 531
Sick sinus syndrome 1 | 15
Splenomegaly 1 | 190
Systemic mastocytosis 1 | 5
Vomiting 1 | 116
Xanthomatosis 1 | 12
adult high grade glioma 1 | 3,801
aldosterone-producing adenoma 1 | 665
group 3 medulloblastoma 1 | 4,104
hepatocellular carcinoma 1 | 547
intraductal papillary-mucinous adenoma (IPMA) 1 | 2,955
intraductal papillary-mucinous neoplasm (IPMN) 1 | 3,291
invasive ductal carcinoma 1 | 2,951
lung adenocarcinoma 1 | 2,716
lung cancer 1 | 4,740
medulloblastoma 1 | 720
mucosa-associated lymphoid tissue lymphoma 1 | 484
nasopharyngeal carcinoma 1 | 1,058
non diabetic and post-ischemic heart failure 1 | 200
non-small cell lung cancer 1 | 2,890
pancreatic ductal adenocarcinoma liver metastasis 1 | 1,962
pituitary cancer 1 | 1,972
spina bifida 1 | 1,074
ulcerative colitis 1 | 1,819

Tissue

Blood and immune system 7 | 16,909
Digestive Tract 7 | 17,369
Liver and Pancreas 7 | 16,750
Urinary Tract 7 | 16,678
Cardiovascular System 6 | 15,192
Endocrine System 6 | 18,159
Female tissues 6 | 17,400
Male tissues 6 | 17,142
Nervous System 6 | 16,725
Respiratory system 6 | 16,393
Skin and soft tissues 6 | 17,230

Target Family

Enzyme 8 | 4,145

PathwayCommons: humancyc Pathway

http://pathwaycommons.org/pc2/... 8 | 8
http://pathwaycommons.org/pc2/... 68 | 68
http://pathwaycommons.org/pc2/... 38 | 38
http://pathwaycommons.org/pc2/... 37 | 37
http://pathwaycommons.org/pc2/... 27 | 27
http://pathwaycommons.org/pc2/... 27 | 27
http://pathwaycommons.org/pc2/... 27 | 27
http://pathwaycommons.org/pc2/... 25 | 25
http://pathwaycommons.org/pc2/... 23 | 23
http://pathwaycommons.org/pc2/... 22 | 22
http://pathwaycommons.org/pc2/... 22 | 22
http://pathwaycommons.org/pc2/... 21 | 21
http://pathwaycommons.org/pc2/... 20 | 20
http://pathwaycommons.org/pc2/... 20 | 20
http://pathwaycommons.org/pc2/... 19 | 19
http://pathwaycommons.org/pc2/... 19 | 19
http://pathwaycommons.org/pc2/... 18 | 18
http://pathwaycommons.org/pc2/... 16 | 16
http://pathwaycommons.org/pc2/... 15 | 15
http://pathwaycommons.org/pc2/... 15 | 15
http://pathwaycommons.org/pc2/... 15 | 15
http://pathwaycommons.org/pc2/... 14 | 14
http://pathwaycommons.org/pc2/... 14 | 14
http://pathwaycommons.org/pc2/... 13 | 13
http://pathwaycommons.org/pc2/... 13 | 13
http://pathwaycommons.org/pc2/... 13 | 13
http://pathwaycommons.org/pc2/... 13 | 13
http://pathwaycommons.org/pc2/... 13 | 13
http://pathwaycommons.org/pc2/... 13 | 13
http://pathwaycommons.org/pc2/... 13 | 13
http://pathwaycommons.org/pc2/... 13 | 13
http://pathwaycommons.org/pc2/... 12 | 12
http://pathwaycommons.org/pc2/... 12 | 12
http://pathwaycommons.org/pc2/... 12 | 12
http://pathwaycommons.org/pc2/... 11 | 11
http://pathwaycommons.org/pc2/... 11 | 11
http://pathwaycommons.org/pc2/... 10 | 10
http://pathwaycommons.org/pc2/... 10 | 10
http://pathwaycommons.org/pc2/... 10 | 10
http://pathwaycommons.org/pc2/... 10 | 10
http://pathwaycommons.org/pc2/... 10 | 10
http://pathwaycommons.org/pc2/... 10 | 10
http://pathwaycommons.org/pc2/... 9 | 9
http://pathwaycommons.org/pc2/... 9 | 9
http://pathwaycommons.org/pc2/... 9 | 9
http://pathwaycommons.org/pc2/... 9 | 9
http://pathwaycommons.org/pc2/... 9 | 9
http://pathwaycommons.org/pc2/... 9 | 9
http://pathwaycommons.org/pc2/... 9 | 9
http://pathwaycommons.org/pc2/... 8 | 8
http://pathwaycommons.org/pc2/... 8 | 8
http://pathwaycommons.org/pc2/... 8 | 8
http://pathwaycommons.org/pc2/... 8 | 8
http://pathwaycommons.org/pc2/... 8 | 8
http://pathwaycommons.org/pc2/... 8 | 8
http://pathwaycommons.org/pc2/... 7 | 7
http://pathwaycommons.org/pc2/... 7 | 7
http://pathwaycommons.org/pc2/... 7 | 7
http://pathwaycommons.org/pc2/... 7 | 7
http://pathwaycommons.org/pc2/... 7 | 7
http://pathwaycommons.org/pc2/... 7 | 7
http://pathwaycommons.org/pc2/... 7 | 7
http://pathwaycommons.org/pc2/... 7 | 7
http://pathwaycommons.org/pc2/... 6 | 6
http://pathwaycommons.org/pc2/... 6 | 6
http://pathwaycommons.org/pc2/... 6 | 6
http://pathwaycommons.org/pc2/... 6 | 6
http://pathwaycommons.org/pc2/... 6 | 6
http://pathwaycommons.org/pc2/... 6 | 6
http://pathwaycommons.org/pc2/... 6 | 6
http://pathwaycommons.org/pc2/... 6 | 6
http://pathwaycommons.org/pc2/... 6 | 6
http://pathwaycommons.org/pc2/... 6 | 6
http://pathwaycommons.org/pc2/... 6 | 6
http://pathwaycommons.org/pc2/... 6 | 6
http://pathwaycommons.org/pc2/... 6 | 6
http://pathwaycommons.org/pc2/... 6 | 6
http://pathwaycommons.org/pc2/... 6 | 6
http://pathwaycommons.org/pc2/... 6 | 6
http://pathwaycommons.org/pc2/... 5 | 5
http://pathwaycommons.org/pc2/... 5 | 5
http://pathwaycommons.org/pc2/... 5 | 5
http://pathwaycommons.org/pc2/... 5 | 5
http://pathwaycommons.org/pc2/... 5 | 5
http://pathwaycommons.org/pc2/... 5 | 5
http://pathwaycommons.org/pc2/... 5 | 5
http://pathwaycommons.org/pc2/... 5 | 5
http://pathwaycommons.org/pc2/... 5 | 5
http://pathwaycommons.org/pc2/... 5 | 5
http://pathwaycommons.org/pc2/... 5 | 5
http://pathwaycommons.org/pc2/... 5 | 5
http://pathwaycommons.org/pc2/... 5 | 5
http://pathwaycommons.org/pc2/... 5 | 5
http://pathwaycommons.org/pc2/... 5 | 5
http://pathwaycommons.org/pc2/... 5 | 5
http://pathwaycommons.org/pc2/... 5 | 5
http://pathwaycommons.org/pc2/... 5 | 5
http://pathwaycommons.org/pc2/... 5 | 5
http://pathwaycommons.org/pc2/... 5 | 5
http://pathwaycommons.org/pc2/... 5 | 5

This is where graphics are reside..
Name Gene Development Level Target Family Log Novelty  Pubmed Score  Antibody Count  Knowledge Availability 
Sphingomyelin phosphodiesterase 4 SMPD4 Tbio Enzyme -0.89678 7.05 66
Phosphatidylcholine:ceramide cholinephosphotransferase 1 SGMS1 Tchem Enzyme -1.61164 41.6 0
Phosphatidylcholine:ceramide cholinephosphotransferase 2 SGMS2 Tchem Enzyme -1.45924 31.1 204
Sphingomyelin synthase-related protein 1 SAMD8 Tbio Enzyme -1.53403 34.3 82
Sphingomyelin phosphodiesterase 3 SMPD3 Tbio Enzyme -1.84613 78.5 126
Sphingomyelin phosphodiesterase 2 SMPD2 Tchem Enzyme -2.30351 192.8 132
Sphingomyelin phosphodiesterase SMPD1 Tbio Enzyme -3.02214 1041.9 201
Ectonucleotide pyrophosphatase/phosphodiesterase family member 7 ENPP7 Tbio Enzyme -1.43973 29.3 197