Development Level

Tclin 1 | 613

IMPC Phenotype

abnormal embryo size 1 | 220
embryonic growth retardation 1 | 106
embryonic lethality prior to o... 1 | 239
embryonic lethality prior to t... 1 | 278

Disease

ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS 1 | 3
Abnormality of body height 1 | 13
Abnormality of the clavicle 1 | 14
Abnormality of the nasopharynx 1 | 9
Achondroplasia 1 | 21
Anosmia 1 | 22
Anterior chamber anomalies 1 | 4
Anterior hypopituitarism 1 | 18
Anterior pituitary hypoplasia 1 | 13
Antley-Bixler Syndrome, Autosomal Dominant 1 | 2
Arachnoid Cysts 1 | 5
Benign neoplasm of eye, unspecified 1 | 3
Bicoronal synostosis 1 | 3
Brachyturricephaly 1 | 4
Broad hallux 1 | 29
Broad hallux phalanx 1 | 8
Broad metacarpals 1 | 5
Broad metatarsals 1 | 5
Bronchomalacia 1 | 7
CHARGE syndrome 1 | 26
CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME 1 | 1
Calcaneonavicular fusion 1 | 2
Cartilaginous trachea 1 | 2
Chordee 1 | 6
Claw hand 1 | 26
Coloboma of eyelid 1 | 15
Congenital myasthenic syndrome 6 1 | 17
Cortical Dysplasia 1 | 13
Craniosynostoses 1 | 16
Decreased testosterone in males 1 | 28
Dermoid choristoma of eye proper 1 | 3
Disproportionately short middle phalanges 1 | 6
Encephalocraniocutaneous lipomatosis 1 | 1
Erectile abnormalities 1 | 16
Erectile dysfunction 1 | 32
Eunuchoid habitus 1 | 14
Failure of tooth eruption 1 | 1
Hallux Varus 1 | 3
Hartsfield Syndrome 1 | 1
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 1 | 1
Hyperplasia of supraorbital margins 1 | 19
Hyperplasia of supraorbital ridge 1 | 19
Hypertrophy of supraorbital margins 1 | 19
Hypertrophy of supraorbital ridge 1 | 19
Hypoplasia of iris 1 | 10
Hypoplastic scapulae 1 | 14
Hypothalamic gonadotropin-releasing hormone deficiency 1 | 14
Idiopathic hypogonadotropic hypogonadism 1 | 21
Increased female libido 1 | 13
Increased size of penis 1 | 7
Interfrontal craniofaciosynostosis 1 | 2
Isolated trigonocephaly 1 | 2
JACKSON-WEISS SYNDROME 1 | 2
Kallmann Syndrome 2 (disorder) 1 | 18
Kallmann syndrome 1 | 33
Linear hyperpigmentation 1 | 1
Lipomas of the central neryous system 1 | 1
Lipomatosis 1 | 12
Lumbar hemivertebra 1 | 1
Mirror movements disorder 1 | 8
Missing more than six teeth 1 | 22
Multiple unerupted teeth 1 | 1
Myeloproliferative Disorders 1 | 7
Nasal congestion (finding) 1 | 2
Nasal obstruction present finding 1 | 3
Non-midline cleft lip 1 | 6
Non-obstructive azoospermia 1 | 21
Osteoglophonic dwarfism 1 | 1
Osteoglophonic dysplasia 1 | 1
Pfeiffer syndrome 1 | 3
Pfeiffer syndrome type 1 1 | 2
Pfeiffer type acrocephalosyndactyly 1 | 2
Pituitary hypoplasia 1 | 23
Platyspondyly 1 | 56
Preauricular skin tag 1 | 19
Prominent supraorbital ridges 1 | 19
Pseudarthrosis 1 | 1
Radial aplasia/hypoplasia 1 | 29
Radiohumeral synostosis of elbow 1 | 8
Ramer Ladda syndrome 1 | 8
Sarcoma of soft tissue 1 | 11
Sense of smell impaired 1 | 21
Septo-Optic Dysplasia 1 | 11
Septooptic dysplasia 1 | 19
Short extremities 1 | 7
Short hallux 1 | 16
Short metatarsal 1 | 21
Short middle phalanx of toe 1 | 3
Short phalanx of finger 1 | 32
Simple syndactyly of toes, first web space 1 | 23
Skin tag on the posterior cheek 1 | 19
Spade-like hand 1 | 16
Subcutaneous lipomas 1 | 9
Testicular hypogonadism 1 | 21
Thumb absent or hypoplastic 1 | 9
Trigonocephaly 1 1 | 1
Wide spaced nipples 1 | 46
Widened metatarsal shaft 1 | 5
Widened phalanges 1 | 4
hypogonadotropic hypogonadism 2 with or without anosmia 1 | 1

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

Kinase 1 | 634

OMIM Phenotype

Hypogonadotropic hypogonadism ... 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 
Fibroblast growth factor receptor 1 FGFR1 Tclin Kinase -3.13063 1294.7 1785