Development Level

Tbio 1 | 11,445

IMPC Phenotype

decreased bone mineral content 1 | 151
decreased circulating calcium ... 1 | 36
decreased red blood cell distr... 1 | 41

Disease

Abnormality of vision 1 | 40
Absent reflex 1 | 92
Absent tendon reflex 1 | 92
Acanthocytosis 1 | 7
Aggressive behavior 1 | 75
Aggressive reaction 1 | 75
Anxiety 1 | 136
Anxiety disease 1 | 113
Astrocytoma, Pilocytic 1 | 3,081
Attention deficit hyperactivity disorder 1 | 278
Bleeding tendency 1 | 37
Breast cancer 1 | 3,578
Caudate atrophy 1 | 3
Cerebral atrophy 1 | 178
Chorea 1 | 29
Chorea Acanthocytosis Syndrome 1 | 2
Choreatic disease 1 | 52
Choreoacanthocytosis 1 | 1
Congenital pes cavus 1 | 88
Creatine phosphokinase serum increased 1 | 110
Death in early adulthood 1 | 24
Decreased tendon reflex 1 | 122
Deglutition Disorders 1 | 132
Developmental regression 1 | 95
Difficulty in tongue movements 1 | 2
Dilated ventricles (finding) 1 | 121
Distal upper limb muscle weakness 1 | 2
Drooling 1 | 27
Dysarthria 1 | 192
Dysgraphia 1 | 20
Dystonia 1 | 164
Dystonic disease 1 | 106
Electromyogram abnormal 1 | 49
Elevated creatine kinase 1 | 110
Epilepsy 1 | 792
Fatigue 1 | 182
Forgetful 1 | 40
Huntington's disease 1 | 76
Hypobetalipoproteinemia 1 | 3
Hypokinesia of the tongue 1 | 2
Hypomyelinating leukodystrophy 2 1 | 3
Kidney cancer 1 | 2,613
Liver cancer 1 | 604
Loss of developmental milestones 1 | 95
Melanoma 1 | 711
Memory Loss 1 | 40
Memory impairment 1 | 40
Mental deterioration in childhood 1 | 95
Mood Disorders 1 | 184
Mood swings 1 | 77
Muscle fiber atrophy 1 | 3
Muscle weakness of limb 1 | 21
Myopathy 1 | 185
Neuroacanthocytosis 1 | 6
Neurodegeneration with brain iron accumulation 6 1 | 8
Neurodegenerative disease 1 | 414
Neurodevelopmental regression 1 | 95
Neurogenic Muscular Atrophy 1 | 139
Neurogenic muscle atrophy, especially in the lower limbs 1 | 139
Neuropathy 1 | 261
Pallor 1 | 40
Pantothenate kinase-associated neurodegeneration 1 | 12
Parkinsonian Disorders 1 | 56
Peripheral Neuropathy 1 | 134
Personality change 1 | 23
Physical aggression 1 | 76
Progressive choreoathetosis 1 | 1
Progressive disorder 1 | 142
Progressive distal muscular atrophy 1 | 2
Protrusion of tongue 1 | 11
Psychomotor regression 1 | 95
Psychomotor regression beginning in infancy 1 | 95
Psychomotor regression in infants 1 | 95
Psychomotor regression, progressive 1 | 95
Psychotic Disorders 1 | 151
Reflex, Deep Tendon, Absent 1 | 92
Seizures 1 | 596
Self-mutilation of tongue and lips due to involuntary movements 1 | 1
Sensory neuropathy 1 | 20
Sialorrhea 1 | 28
Skeletal muscle atrophy 1 | 139
Skin cancer 1 | 469
Social disinhibition 1 | 14
Tremor 1 | 113
Type 2 diabetes mellitus 1 | 272
Urine color abnormal 1 | 6
adult high grade glioma 1 | 3,801
astrocytic glioma 1 | 2,597
chorea-acanthocytosis 1 | 12
intraductal papillary-mucinous adenoma (IPMA) 1 | 2,955
intraductal papillary-mucinous carcinoma (IPMC) 1 | 2,989
intraductal papillary-mucinous neoplasm (IPMN) 1 | 3,291
invasive ductal carcinoma 1 | 2,951
lingual-facial-buccal dyskinesia 1 | 13
muscle degeneration 1 | 139
oligodendroglioma 1 | 2,850
osteosarcoma 1 | 7,950
ovarian cancer 1 | 8,520
recurrent muscle twitches (symptom) 1 | 1
ulcerative colitis 1 | 1,819

Tissue

Blood and immune system 1 | 16,909
Cardiovascular System 1 | 15,192
Digestive Tract 1 | 17,369
Endocrine System 1 | 18,159
Female tissues 1 | 17,400
Liver and Pancreas 1 | 16,750
Male tissues 1 | 17,142
Nervous System 1 | 16,725
Respiratory system 1 | 16,393
Skin and soft tissues 1 | 17,230
Urinary Tract 1 | 16,678

Target Family

Non-IDG 1 | 12,091

OMIM Phenotype

Phenotype: Choreoacanthocytosi... 1 | 1
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
[Transferrin serum level QTL2] 2 | 2

This is where graphics are reside..
Name Gene Development Level Target Family Log Novelty  Pubmed Score  Antibody Count  Knowledge Availability 
Vacuolar protein sorting-associated protein 13A VPS13A Tbio Non-IDG -2.19966 172.3 22