Development Level

Tbio 2 | 11,651

Disease

Abnormality of the metaphyses 1 | 48
Anemia 1 | 365
Anemia, Aplastic 1 | 7
Aplastic Anemia 1 | 21
Aplastic anemia, idiopathic 1 | 4
Autosomal dominant nonsyndromic deafness 69 1 | 4
Autosomal recessive predisposition 1 | 1,442
Bullet vertebral body 1 | 17
Cognitive delay 1 | 608
Decreased platelet count 1 | 111
Delayed bone age 1 | 136
Dull intelligence 1 | 645
Eczema 1 | 45
Elevated hepatic transaminases 1 | 81
Enlargement of the costochondral junction 1 | 4
Exocrine pancreatic insufficiency 1 | 32
Failure to gain weight 1 | 365
Foetal haemoglobin increased 1 | 7
Generalized hypotonia 1 | 37
Generalized osteopenia 1 | 99
Global developmental delay 1 | 608
Hemoglobin low 1 | 124
Hepatic enzyme increased 1 | 81
Hepatomegaly 1 | 285
Hip joint varus deformity - observation 1 | 24
Hypervitaminosis A 1 | 13
Hypoplastic myelodysplasia 1 | 18
Ichthyoses 1 | 41
Increased calcium level in kidney 1 | 21
Intellectual disability 1 | 1,016
Irregular ossification at anterior rib ends 1 | 1
Leukemia, Myelocytic, Acute 1 | 120
Liver Cirrhosis, Experimental 1 | 769
Liver Dysfunction 1 | 99
Liver enzymes abnormal 1 | 81
Liver function test increased 1 | 81
Liver function tests abnormal finding 1 | 81
Low Birth Weights 1 | 69
Low intelligence 1 | 645
MYELODYSPLASTIC SYNDROME 1 | 53
Malabsorption 1 | 82
Mental Retardation 1 | 645
Mental and motor retardation 1 | 608
Mental deficiency 1 | 645
Metaphyseal chondrodysplasia 1 | 7
Metaphyseal dysplasia 1 | 11
Metaphyseal sclerosis 1 | 3
Metaphyseal widening 1 | 22
Mild Mental Retardation 1 | 70
Myocardial necrosis 1 | 2
Narrow sacroiliac notch 1 | 4
Narrow thorax 1 | 53
Nephrocalcinosis 1 | 35
Neutropenia 1 | 72
Neutrophil count decreased 1 | 47
Osteopenia 1 | 99
Ovoid vertebral bodies 1 | 17
Pancreatic Insufficiency 1 | 13
Pancytopenia 1 | 45
Pediatric failure to thrive 1 | 365
Poor school performance 1 | 645
Recurrent infections 1 | 48
Respiratory Distress Syndrome 1 | 15
Short stature 1 | 531
Shwachman syndrome 1 | 1
Shwachman-Diamond syndrome 1 | 17
Slipped Capital Femoral Epiphyses 1 | 3
Sly syndrome 1 | 4
Small for gestational age (disorder) 1 | 69
Specific learning disability 1 | 47
Steatorrhea 1 | 34
Subclinical abnormal liver function tests 1 | 81
Thrombocytopenia 1 | 197
Transaminases increased 1 | 81
acute myeloid leukemia 1 | 783
adrenocortical adenoma 1 | 131
adrenocortical carcinoma 1 | 1,428
adult high grade glioma 1 | 3,801
atypical teratoid / rhabdoid tumor 1 | 5,112
ependymoma 1 | 4,679
group 4 medulloblastoma 1 | 1,855
inflammatory breast cancer 1 | 286
invasive ductal carcinoma 1 | 2,951
late-onset retinal degenration 1 | 12
lung adenocarcinoma 1 | 2,716
medulloblastoma, large-cell 1 | 6,241
osteosarcoma 1 | 7,950
pancreatic ductal adenocarcinoma liver metastasis 1 | 1,962
primitive neuroectodermal tumor 1 | 3,035
tuberculosis 1 | 2,010

Tissue

Blood and immune system 2 | 16,909
Cardiovascular System 2 | 15,192
Digestive Tract 2 | 17,369
Endocrine System 2 | 18,159
Female tissues 2 | 17,400
Liver and Pancreas 2 | 16,750
Male tissues 2 | 17,142
Nervous System 2 | 16,725
Respiratory system 2 | 16,393
Skin and soft tissues 2 | 17,230
Urinary Tract 2 | 16,678

Target Family

Enzyme 1 | 4,145
Non-IDG 1 | 12,091

OMIM Phenotype

Phenotype: Shwachman-Diamond s... 2 | 2
Abacavir hypersensitivity, sus... 35 | 35
Phenotype: {Spondyloarthropath... 35 | 35
Stevens-Johnson syndrome, susc... 35 | 35
Synovitis, chronic, susceptibi... 35 | 35
Toxic epidermal necrolysis, su... 35 | 35
Phenotype: {Hypersensitivity s... 21 | 21
HIV-1 viremia, susceptibility ... 14 | 14
Phenotype: {Psoriasis suscepti... 14 | 14
Multiple sclerosis, susceptibi... 13 | 13
Phenotype: {Sarcoidosis, susce... 13 | 13
Colorectal cancer, somatic 8 | 8
Gastric cancer, somatic 6 | 6
Diabetes mellitus, noninsulin-... 5 | 5
Pheochromocytoma 5 | 5
ACTH-independent macronodular ... 4 | 4
Alzheimer disease, susceptibil... 4 | 4
Malaria, resistance to 4 | 4
McCune-Albright syndrome, soma... 4 | 4
Mycobacterium tuberculosis, su... 4 | 4
Osseous heteroplasia, progress... 4 | 4
Phenotype: Colorectal cancer, ... 4 | 4
Phenotype: Pseudohypoparathyro... 4 | 4
Phenotype: [Blood group 4 | 4
Phenotype: {Myocardial infarct... 4 | 4
Phenotype: {Schizophrenia, sus... 4 | 4
Pituitary adenoma 3, multiple ... 4 | 4
Pseudohypoparathyroidism Ib 4 | 4
Pseudohypoparathyroidism Ic 4 | 4
Pseudopseudohypoparathyroidism 4 | 4
Renal tubular dysgenesis 4 | 4
Tetralogy of Fallot 4 | 4
Afibrinogenemia, congenital 3 | 3
Aplastic anemia 3 | 3
Bladder cancer, somatic 3 | 3
COACH syndrome 3 | 3
Central hypoventilation syndro... 3 | 3
Dejerine-Sottas disease 3 | 3
Diabetes mellitus, permanent n... 3 | 3
LADD syndrome 3 | 3
Leukemia, acute myeloid 3 | 3
Lung cancer, susceptibility to 3 | 3
Mismatch repair cancer syndrom... 3 | 3
Multiple pterygium syndrome, l... 3 | 3
Myocardial infarction, suscept... 3 | 3
Neuropathy, distal hereditary ... 3 | 3
Omenn syndrome 3 | 3
Paraganglioma and gastric stro... 3 | 3
Parkinson disease, susceptibil... 3 | 3
Phenotype: Anterior segment dy... 3 | 3
Phenotype: Bethlem myopathy 1 3 | 3
Phenotype: Dysfibrinogenemia, ... 3 | 3
Phenotype: Epilepsy, progressi... 3 | 3
Phenotype: Leigh syndrome due ... 3 | 3
Phenotype: Orthostatic intoler... 3 | 3
Phenotype: {Breast cancer, sus... 3 | 3
Prostate cancer, susceptibilit... 3 | 3
Retinitis punctata albescens 3 | 3
Roussy-Levy syndrome 3 | 3
Schimmelpenning-Feuerstein-Mim... 3 | 3
Schizencephaly 3 | 3
Ullrich congenital muscular dy... 3 | 3
Arthrogryposis, distal, type 2... 2 | 2
Asthma, susceptibility to 2 | 2
Brachydactyly, type A2 2 | 2
Cerebrooculofacioskeletal synd... 2 | 2
De Sanctis-Cacchione syndrome 2 | 2
Epidermolysis bullosa simplex,... 2 | 2
Epidermolysis bullosa simplex,... 2 | 2
Epidermolysis bullosa simplex,... 2 | 2
Hypercholesterolemia, familial... 2 | 2
Hypofibrinogenemia, congenital 2 | 2
Ichthyosis, cyclic, with epide... 2 | 2
Jackson-Weiss syndrome 2 | 2
Leukemia, acute lymphoblastic,... 2 | 2
Leukemia, acute myeloid, somat... 2 | 2
Macular degeneration, age-rela... 2 | 2
Melanoma, cutaneous malignant,... 2 | 2
Microvascular complications of... 2 | 2
Ovarian cancer, somatic 2 | 2
Phenotype: Cockayne syndrome, ... 2 | 2
Phenotype: Epidermodysplasia v... 2 | 2
Phenotype: Epidermolysis bullo... 2 | 2
Phenotype: Epidermolytic hyper... 2 | 2
Phenotype: Hemochromatosis 2 | 2
Phenotype: Lacticacidemia due ... 2 | 2
Phenotype: Meesmann corneal dy... 2 | 2
Phenotype: Obesity, severe 2 | 2
Phenotype: Paroxysmal nonkines... 2 | 2
Phenotype: T-cell immunodefici... 2 | 2
Phenotype: Vitreoretinopathy, ... 2 | 2
Phenotype: {Alcohol dependence... 2 | 2
Phenotype: {Diabetes mellitus,... 2 | 2
Phenotype: {Nephrolithiasis, u... 2 | 2
Pick disease 2 | 2
Porphyria cutanea tarda, susce... 2 | 2
Porphyria variegata, susceptib... 2 | 2
Premature ovarian failure 11 2 | 2
Restrictive dermopathy, lethal 2 | 2
UV-sensitive syndrome 1 2 | 2

This is where graphics are reside..
Name Gene Development Level Target Family Log Novelty  Pubmed Score  Antibody Count  Knowledge Availability 
L-serine dehydratase/L-threonine deaminase SDS Tbio Enzyme -2.29507 195.8 141
Ribosome maturation protein SBDS SBDS Tbio Non-IDG -2.24233 174.4 139