Development Level

Tbio 1 | 11,445

IMPC Phenotype

abnormal nail morphology 1 | 8
preweaning lethality, complete... 1 | 979

Disease

Abnormality of the larynx 1 | 6
Abnormally small eyeball 1 | 97
Accessory spleen 1 | 7
Adrenal hypoplasia 1 | 12
Ambiguous genitalia due to virilization 1 | 9
Ambiguous genitalia, female 1 | 9
Ambiguous genitalia, male 1 | 9
Aplasia/Hypoplasia of the iris 1 | 10
Autosomal recessive predisposition 1 | 1,442
BARDET-BIEDL SYNDROME 13 1 | 1
Bardet-Biedl syndrome 1 1 | 22
Bile duct proliferation 1 | 9
Biparietal narrowing 1 | 28
Bowing of the long bones 1 | 31
Cerebellar Hypoplasia 1 | 61
Cerebellar vermis hypoplasia 1 | 24
Cerebral hypoplasia 1 | 3
Chorioretinal abnormality 1 | 21
Chubby cheeks 1 | 50
Cognitive delay 1 | 608
Coloboma of iris 1 | 38
Congenital absence of kidney 1 | 31
Congenital absence of spleen 1 | 10
Congenital clinodactyly 1 | 57
Congenital hypoplasia of lung 1 | 48
Congenital hypoplasia of ovary 1 | 30
Congenital hypoplasia of penis 1 | 176
Congenital malrotation of intestine 1 | 16
Congenital omphalocele 1 | 20
Corneal diameter decreased 1 | 47
Curvature of digit 1 | 57
Decreased size of eyeball 1 | 97
Decreased width of the skull 1 | 28
Defective or absent horizontal voluntary eye movements 1 | 25
Depressed nasal ridge 1 | 51
Dull intelligence 1 | 645
Electroretinogram abnormal 1 | 95
Elevated amniotic fluid alpha-fetoprotein 1 | 3
Familial aplasia of the vermis 1 | 19
Feeding difficulties 1 | 127
Feeding difficulties in infancy 1 | 175
Fibular polydactyly 1 | 12
Full cheeks 1 | 50
Gait abnormality 1 | 135
Global developmental delay 1 | 608
Hyperplasia of cheeks 1 | 50
Hyperpnea, episodic 1 | 7
Hypertrophy of cheeks 1 | 50
Hypoplastic bladder 1 | 3
Hypoplastic mandible condyle 1 | 275
Hypoplastic ovary 1 | 30
Increase in blood pressure 1 | 119
Intrauterine retardation 1 | 176
Joubert syndrome with ocular defect 1 | 4
Large placenta 1 | 2
Lens Opacities 1 | 231
Lobar Holoprosencephaly 1 | 20
Lobulated tongue 1 | 4
Long face 1 | 71
Low intelligence 1 | 645
Low set ears 1 | 181
Low-set, posteriorly rotated ears 1 | 110
Mandibular hypoplasia 1 | 275
Maternal oligohydramnios 1 | 31
Meckel Syndrome, Type 1 1 | 1
Meckel syndrome type 1 1 | 1
Meckel-Gruber syndrome 1 | 13
Mental and motor retardation 1 | 608
Mental deficiency 1 | 645
Microcornea 1 | 47
Molar tooth sign on MRI 1 | 12
Multicystic Dysplastic Kidney 1 | 52
Neck webbing 1 | 35
Oculomotor apraxia 1 | 25
Olfactory lobe absence 1 | 6
Orbital separation diminished 1 | 23
Polycystic Kidney - body part 1 | 18
Poor school performance 1 | 645
Postaxial foot polydactyly 1 | 12
Puffy cheeks 1 | 50
Radially deviated fingers 1 | 38
Retinal Dystrophies 1 | 33
Sclerocornea 1 | 29
Short neck 1 | 140
Short stature 1 | 531
Single umbilical artery 1 | 5
Sloping forehead 1 | 46
Small adrenal gland 1 | 12
Small genitalia 1 | 13
Small head 1 | 374
Talipes 1 | 20
Talipes foot deformities 1 | 20
Ulnar polydactyly of fingers 1 | 47
Uranostaphyloschisis 1 | 167
Ureteral anomalies 1 | 5
Uterine Anomalies 1 | 5
glioblastoma 1 | 5,792
group 3 medulloblastoma 1 | 4,104
lung cancer 1 | 4,740
primitive neuroectodermal tumor 1 | 3,035

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

Joubert syndrome 28 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 
Meckel syndrome type 1 protein MKS1 Tbio Non-IDG -1.31837 20.5 59