|
321
|
|
|
FA complementation group L |
FAAP43, PHF9, POG |
Anemia, Astigmatism, Atrial septal defect, Azoospermia, Cafe-au-lait spot, Camptodactyly of fingers, Cataract, Choanal atresia, Congenital arteriovenous malformation, Congenital epicanthus, Congenital exomphalos, Cranial nerve paralysis, Cryptorchidism, Developmental delay, Dolichocephaly, Dwarfism, Fanconi anemia, Frontal bossing, High palate, Hirschsprung disease, Hydrocephalus, Hypertrophic cardiomyopathy, Hypogonadism, Hypospadias, Imperforate anus, Leukemia, Leukopenia, Head and neck cancer, Meckel diverticulum, Mental retardation, Microcephaly, Micrognathism, Microphthalmos, Miller dieker syndrome, Monocytic leukemia, Myelodysplasia, Myelodysplastic syndrome, Nystagmus, Pancytopenia, Patent ductus arteriosus, Proptosis, Ptosis, Renal insufficiency, Scoliosis, Spina bifida, Strabismus, Syndactyly of fingers, Syndactyly of the toes, Tetralogy of fallotView all (34 more) |
|
322
|
|
|
FA complementation group I |
KIAA1794 |
Absence of septum pellucidum, Agenesis of corpus callosum, Alpers syndrome, Arnold-chiari malformation, Astigmatism, Atrial septal defect, Azoospermia, Breast cancer, Cafe-au-lait spot, Camptodactyly of fingers, Cataract, Choanal atresia, Colpocephaly, Congenital arteriovenous malformation, Congenital epicanthus, Congenital exomphalos, Congenital hypoplasia of radius, Cranial nerve paralysis, Cryptorchidism, Developmental delay, Dolichocephaly, Dwarfism, Fanconi anemia, Frontal bossing, Hearing loss, High palate, Hirschsprung disease, Horseshoe kidney, Hydrocephalus, Hypertrophic cardiomyopathy, Hypogonadism, Hypoplasia of the optic nerve, Hypospadias, Hypothyroidism, Imperforate anus, Isolated somatotropin deficiency, Leukemia, Leukopenia, Liver carcinoma, Head and neck cancer, Meckel diverticulum, Mental retardation, Microcephaly, Micrognathism, Microphthalmos, Miller dieker syndrome, Monocytic leukemia, Myelodysplasia, Myelodysplastic syndrome, Myopia, Neutropenia, Nystagmus, Pancytopenia, Patent ductus arteriosus, Patent foramen ovale, Proptosis, Ptosis, Renal hypoplasia, Renal insufficiency, Scoliosis, Somatotropin deficiency, Spina bifida, Strabismus, Syndactyly of fingers, Syndactyly of the toes, Tetralogy of fallot, Thumb aplasia, Ventricular septal defect, Vesicoureteral refluxView all (54 more) |
|
323
|
|
|
FGGY carbohydrate kinase domain containing |
- |
|
|
324
|
|
|
F-box and WD repeat domain containing 7 |
AGO, CDC4, DEDHIL, FBW6, FBW7, FBX30, FBXO30, FBXW6, SEL-10, SEL10, hAgo, hCdc4 |
Adenocarcinoma, Breast cancer, Mammary neoplasms, Breast carcinoma, Carcinoma, Carcinoma of the head and neck, Uterine cervix neoplasm, Colorectal cancer, Colorectal neoplasms, Diabetes mellitus, Endometrial cancer, Endometrial neoplasms, Endometrial carcinoma, Esophageal carcinoma, Esophagus neoplasm, Gastric cancer, Glioblastoma, Glioma, Lymphocytic leukemia, Lymphoblastic leukemia, Lung carcinoma, Lung adenocarcinoma, Malignant uterine corpus neoplasm, Marfan syndrome, Medulloblastoma, Melanoma, Ovarian serous cystadenocarcinoma, Papillary renal carcinoma, Bladder carcinomaView all (14 more) |
|
325
|
|
|
FAD dependent oxidoreductase domain containing 1 |
FP634, H17, MC1DN19 |
Anemia, Cerebellar ataxia, Cerebellar atrophy, Developmental delay, Diabetes mellitus, Dysarthria, Dysmorphic features, Epileptic encephalopathy, Hearing loss, Hypertrichosis, Hypertrophic cardiomyopathy, Hypoglycemia, Mental retardation, Isolated complex i deficiency, Leigh syndrome, Leigh syndrome with leukodystrophy, Leukodystrophy, Leukoencephalopathy, Microcephaly, Mitochondrial complex deficiency, Mitochondrial diseases, Mitochondrial electron transport chain deficiencies, Mitochondrial encephalomyopathy, Mitochondrial myopathy, Mitochondrial respiratory chain deficiencies, Mood swings, Necrotizing encephalomyelopathy, Nervous system diseases, Nystagmus, Optic atrophy, Oxidative phosphorylation deficiency, Ptosis, Retinitis pigmentosa, Scoliosis, Strabismus, Ventricular septal defectView all (21 more) |
|
326
|
|
|
FERM domain containing kindlin 1 |
C20orf42, DTGCU2, KIND1, UNC112A, URP1 |
Acrocephaly, Amniotic bands, Anemia, Carcinoma, Cheilitis, Colitis, Conjunctivitis, Corneal erosion, Crohn disease, Diffuse skin atrophy, Dysphagia, Ectropion, Esophageal stricture, Eosinophilia, Gingivitis, Inflammatory bowel disease, Kindler epidermolysis bullosa, Laryngostenosis, Palmoplantar keratoderma, Palmoplantar keratosis, Periodontitis, Poikiloderma, Poikiloderma of kindler, Syndactyly of fingers, Urethral neoplasmsView all (10 more) |
|
327
|
|
|
FLVCR choline and putative heme transporter 2 |
C14orf58, CCT, EPV, FLVCRL14q, MFSD7C, PVHH, SLC49A2 |
Agenesis of corpus callosum, Akinesia, Cerebellar hypoplasia, Dandy-walker syndrome, Developmental delay, Fowler syndrome, Fowler vasculopaty, Hydranencephaly, Hydrocephalus, Microcephaly, Micrognathism, Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome |
|
328
|
|
|
FERM domain containing 4A |
CCAFCA, FRMD4, bA295P9.4 |
Agenesis of corpus callosum, Alzheimer disease, Antiphospholipid syndrome, Basal cell neoplasm, Breast carcinoma, Carcinoma, Cerebellar hypoplasia, Cholecystolithiasis, Cholelithiasis, Congenital microcephaly, Corpus callosum, agenesis, with facial anomalies and cerebellar ataxia, Developmental delay, Goldenhar syndrome, Mental retardation, Intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome, Leukemia, Partial agenesis of corpus callosum, Posteriorly rotated ear, Strabismus, Takayasu arteritisView all (5 more) |
|
329
|
|
|
FYVE, RhoGEF and PH domain containing 6 |
ZFYVE24 |
|
|
330
|
|
|
Formin 2 |
- |
Absence of septum pellucidum, Alzheimer disease, Autism, Central visual impairment, Cerebral atrophy, Chromophobe carcinoma, Cortical dysplasia, Developmental delay, Dyskinetic syndrome, Dyssomnia, Exotropia, Hydronephrosis, Hypoplasia of corpus callosum, Imperforate anus, Mental retardation, Leukemia, Mental depression, Microcephaly, Motor delay, Non-syndromic intellectual disability, Papillary renal carcinoma, Polymicrogyria, Renal carcinoma, Salaam seizures, Seizure, Sleep disorders, Stereotyped behaviorView all (12 more) |
