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191
|
|
|
Filamin A |
ABP-280, ABPX, CSBS, CVD1, FGS2, FLN, FLN-A, FLN1, FMD, MNS, NHBP, OPD, OPD1, OPD2, XLVD, XMVD |
Accessory carpal bones, Acquired kyphoscoliosis, Acrosteolysis, Anodontia, Aortic aneurysm, Aortic valve insufficiency, Arachnodactyly, Bicuspid aortic valve, Blood coagulation disorders, Brachydactyly, Breast cancer, Mammary neoplasms, Breast carcinoma, Cardiac valvular dysplasia , x-linked, Cataract, Cerebellar hypoplasia, Chondrodystrophic myotonia, Clinodactyly, Congenital cerebral hernia, Congenital clubfoot, Congenital coloboma of iris, Congenital diaphragmatic hernia, Dislocated radial head, Developmental dysplasia of the hip, Congenital epicanthus, Congenital exomphalos, Short clavicles, Pulmonary hypoplasia, Congenital kyphoscoliosis, Congenital malrotation of intestine, Congenital omphalocele, Congenital pectus excavatum, Congestive heart failure, Cor pulmonale, Craniosynostosis, Cryptorchidism, Developmental delay, Dwarfism, Dyschondroplasias, Ehlers-danlos syndrome, Ehlers-danlos syndrome, x-linked, Elbow flexion contracture, Epilepsy, Epileptic encephalopathy, Fg syndrome, Fg syndrome phenotypic spectrum, Fibroma, Flexion contracture of wrist, Frontal bossing, Frontometaphyseal dysplasia, Gastroesophageal reflux disease, Glaucoma, Glaucoma, congenital, Glossoptosis, Hearing loss, Heart septal defects, Heterotopia, High palate, Hydrocephalus, Hydronephrosis, Hypodontia, Hypoplasia of thumb, Hypospadias, Hypotrichosis, Impaired cognition, Intestinal pseudoobstruction, Intestinal pseudoobstruction, neuronal, x-linked, Lipoatrophy, Lipodystrophy, Macrothrombocytopenia, Macrotia, Malabsorption syndrome, Malformation of cortical development, Cystosarcoma phyllodes, Marfan syndrome, Melnick-needles syndrome, Meningomyelocele, Mental retardation, Micrognathism, Microstomia, Mitral valve prolapse, Motor delay, Multiple epiphyseal dysplasia, Nail diseases, Nail dysplasia, Nail dystrophy, Hypotonia, Neuronal heterotopia, Neuronal intestinal pseudoobstruction, Oligodontia, Osteochondrodysplasia, Osteosclerosis, Otitis media, Oto-palato-digital syndrome, Patent ductus arteriosus, Periventricular heterotopia, x-linked, Periventricular nodular heterotopia, Phyllodes tumor, Pierre-robin syndrome, Posteriorly rotated ear, Proptosis, Ptosis, Pulmonary arterial hypertension, Periventricular heterotopia, Radial polydactyly, Respiratory failure, Schwartz-jampel syndrome, Scoliosis, Skeletal dysplasia, Spondyloenchondrodysplasia, Spondyloepiphyseal dysplasia, Spondylolysis, Strabismus, Stroke, Syndactyly, Syndactyly of the toes, Tarsal coalition, Terminal osseous dysplasia and pigmentary defects, Thoracic aortic aneurysm and aortic dissection, Tracheal stenosis, Tricuspid valve insufficiency, Tricuspid valve prolapse, Postaxial hand polydactyly, Van buchem disease, Vertical talus, Vesicoureteral refluxView all (111 more) |
|
192
|
|
|
Filamin B |
ABP-278, ABP-280, AOI, FH1, FLN-B, FLN1L, LRS1, SCT, TABP, TAP |
Abnormal spinal segmentation, Accessory carpal bones, Aortic aneurysm, Atelosteogenesis, Atrial septal defect, Boomerang dysplasia, Brachydactyly, Breast cancer, Bronchomalacia, Camptodactyly of fingers, Cardiovascular abnormalities, Carpal synostosis, Cataract, Talipes equinovalgus, Congenital cerebral hernia, Congenital clubfoot, Congenital dislocation of knee, Short femur, Pulmonary hypoplasia, Congenital omphalocele, Congenital pectus carinatum, Congenital pectus excavatum, Craniosynostosis, Cryptorchidism, Dental enamel hypoplasia, Developmental delay, Dwarfism, Eating disorders, Epiphyseal dysplasia, Frontal bossing, Hearing loss, High palate, Hydrops fetalis, Hypodontia, Hypoplasia of spine, Hypoplasia of the maxilla, Isolated somatotropin deficiency, Larsen syndrome, Laryngostenosis, Malrotation of colon, Mental retardation, Micrognathism, Micromelia, Multiple renal cysts, Platybasia, Proptosis, Renal cyst, Retinal dysplasia, Rhizomelia, Scoliosis, Short-limb dwarfism, Somatotropin deficiency, Spina bifida occulta, Spinal cord compression, Spondylocarpotarsal synostosis syndrome, Spondylolysis, Syndactyly of fingers, Tarsal coalition, Thoracic hypoplasia, Tracheal stenosis, Tracheomalacia, Ventricular septal defectView all (47 more) |
|
193
|
|
|
Filamin C |
ABP-280, ABP280A, ABPA, ABPL, ARVC15, CMH26, FLN2, MFM5, MPD4, RCM5 |
Bicuspid aortic valve, Cardiomyopathy, Colorectal cancer, Colorectal neoplasms, Congenital epicanthus, Congestive heart failure, Distal lower limb amyotrophy, Distal myopathy, Distal myopathy with posterior leg and anterior hand involvement, Distal upper limb amyotrophy, Hypertrophic cardiomyopathy, Muscle filaminopathy, Myofibrillar myopathy, Myopathy, Patent foramen ovale, Restrictive cardiomyopathy, Two-raphe bicuspid aortic valveView all (2 more) |
|
194
|
|
|
F-box and leucine rich repeat protein 7 |
FBL6, FBL7 |
|
|
195
|
|
|
Family with sequence similarity 120 member A |
C9orf10, HBVPTPAP, OSSA |
|
|
196
|
|
|
Fas associated factor family member 2 |
ETEA, UBXD8, UBXN3B |
|
|
197
|
|
|
Family with sequence similarity 168 member A |
KIAA0280, TCRP1 |
|
|
198
|
|
|
Fms related receptor tyrosine kinase 1 |
FLT, FLT-1, VEGFR-1, VEGFR1 |
Breast cancer, Mammary neoplasms, Breast carcinoma, Chondrodystrophic myotonia, Chromophobe carcinoma, Coronary artery disease, Coronary heart disease, Diabetes mellitus, Dyschondroplasias, Dyssomnia, Hemangiosarcoma, Hypertension, Kidney disease, Liver cirrhosis, Liver fibrosis, Lung adenocarcinoma, Marfan syndrome, Melanoma, Melnick-needles syndrome, Multiple epiphyseal dysplasia, Osteochondrodysplasia, Papillary renal carcinoma, Polycystic ovary syndrome, Preeclampsia, Renal carcinoma, Schwartz-jampel syndrome, Skin cancer, Skin neoplasms, Sleep disorders, Spondyloenchondrodysplasia, Spondyloepiphyseal dysplasia, Bladder carcinoma, Uremia, Van buchem diseaseView all (19 more) |
|
199
|
|
|
Fms related receptor tyrosine kinase 3 |
CD135, FLK-2, FLK2, STK1 |
Autoimmune diseases, Burkitt`s lymphoma, Csf pleocytosis, Erythroleukemia, Hypothyroidism, Lymphoblastic leukemia, Leukemia, Lymphocytic leukemia, Mixed phenotype leukemia, Myeloblastic leukemia with maturation, Myeloblastic leukemia without maturation, Myeloid leukemia, Myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22), Myeloid leukemia with t(8;21)(q22;q22) translocation, Myelomonocytic leukemia, Promyelocytic leukemia, Tourette syndromeView all (2 more) |
|
200
|
|
|
Fms related receptor tyrosine kinase 4 |
CHTD7, FLT-4, FLT41, LMPH1A, LMPHM1, PCL, VEGFR-3, VEGFR3 |
Capillary hemangioma, Congenital epicanthus, Dysmorphic features, Erysipelas, Hemangioma, Hemangiosarcoma, Hydrops fetalis, Hyperkeratosis, Hypoplasia of lymphatic vessels, Metastatic melanoma, Milroy disease, Multiple congenital anomalies, Sclerocystic ovaries, Polycystic ovary syndrome, Renal carcinoma, Sarcoma, Skin neoplasms, Specific learning disorder, Strawberry nevus of skin, Testicular hydrocele, Tetralogy of fallot, Vulval varicesView all (7 more) |
