|
3091
|
|
|
Acyl-CoA synthetase long chain family member 4 |
ACS4, FACL4, LACS4, MRX63, MRX68, XLID63 |
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome, Amme complex, Anxiety disorder, Attention deficit hyperactivity disorder, Autism, Colorectal cancer, Developmental delay, Elliptocytosis, Facial paralysis, Neurosensory hearing impairment, Mental retardation, Liver carcinoma, Lung adenocarcinoma, Macrocephaly, Meckel diverticulum, Melancholia, Mental depression, Mental retardation, x-linked, Myopia, Non-syndromic intellectual disability, x-linked, Obesity, Patent ductus arteriosus, Prostatic neoplasms, Prostate cancer, Renal glomerular disease, Renal insufficiency, Seizure, Strabismus, Syndactyly of the toesView all (14 more) |
|
3092
|
|
|
Fumarylacetoacetate hydrolase |
- |
Cholestasis, Cirrhosis, Fanconi syndrome, Glomerulonephritis, Glomerulosclerosis, Hypertrophic cardiomyopathy, Hypoglycemia, Hypophosphatemic rickets, Liver carcinoma, Liver failure, Nephrocalcinosis, Paralytic ileus, Periodic paralysis, Renal insufficiency, Tyrosinemia |
|
3093
|
|
|
Protein tyrosine kinase 2 beta |
CADTK, CAKB, FADK2, FAK2, PKB, PTK, PYK2, RAFTK |
|
|
3094
|
|
|
Bromodomain PHD finger transcription factor |
FAC1, FALZ, NEDDFL, NURF301 |
17q24.2 microdeletion syndrome, Cubitus valgus, Anxiety disorder, Autism, Urinary bladder cancer, Bladder neoplasm, Camptodactyly of fingers, Cataract, Choanal atresia, Clinodactyly, Congenital epicanthus, Cryptorchidism, Developmental delay, Dwarfism, Dysmorphic features, Endometrial carcinoma, Exocrine pancreatic insufficiency, Exotropia, Expressive language delay, Fifth finger distal phalanx clinodactyly, Grammar-specific speech disorder, Hallucinations, High palate, Isolated somatotropin deficiency, Lung carcinoma, Lung adenocarcinoma, Mental retardation, Microcephaly, Micrognathism, Microstomia, Microtia, Mood swings, Multiple congenital anomalies, Myopia, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Otitis media, Otosclerosis, Patent ductus arteriosus, Persistent pupillary membranes, Psoriasis, Ptosis, Pulmonary stenosis, Scoliosis, Secondary physiologic amenorrhea, Strabismus, Syndromic mental retardation, Synophrys, Vesicoureteral refluxView all (33 more) |
|
3095
|
|
|
FA complementation group B |
FA2, FAAP90, FAAP95, FAB, FACB |
Anemia, Aqueductal stenosis, Arrhinencephaly, Astigmatism, Atrial septal defect, Azoospermia, Cafe-au-lait spot, Camptodactyly of fingers, Cataract, Choanal atresia, Anotia, Congenital arteriovenous malformation, Congenital epicanthus, Congenital exomphalos, Pulmonary hypoplasia, Congenital hypoplasia of radius, Cranial nerve paralysis, Cryptorchidism, Developmental delay, Dolichocephaly, Dwarfism, Esophageal atresia, Fanconi anemia, Frontal bossing, Hernia, femoral, High palate, Hirschsprung disease, Hydrocephalus, Hydronephrosis, Hypertrophic cardiomyopathy, Hypogonadism, Hypospadias, Imperforate anus, Leukemia, Leukopenia, Head and neck cancer, Meckel diverticulum, Mental retardation, Microcephaly, Microcornea, Micrognathism, Microphthalmos, Miller dieker syndrome, Monocytic leukemia, Myelodysplasia, Myelodysplastic syndrome, Nystagmus, Pancytopenia, Patent ductus arteriosus, Proptosis, Ptosis, Renal agenesis, Renal insufficiency, Sacral agenesis, Scoliosis, Spina bifida, Strabismus, Syndactyly of fingers, Syndactyly of the toes, Syndromic microphthalmia, Tetralogy of fallot, Thumb aplasia, Transposition of great vessels, Urethral atresia, Vacterl association, Vacterl association, x-linked, with or without hydrocephalus, Vater association with macrocephaly and ventriculomegalyView all (52 more) |
|
3096
|
|
|
FA complementation group F |
FAF |
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 (33 more) |
|
3097
|
|
|
FA complementation group G |
FAG, XRCC9 |
Anemia, Astigmatism, Atrial septal defect, Azoospermia, Cafe-au-lait spot, Camptodactyly of fingers, Cataract, Choanal atresia, Colorectal cancer, 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, Mouth diseases, Myelodysplasia, Myelodysplastic syndrome, Neutropenia, Nystagmus, Pancytopenia, Patent ductus arteriosus, Proptosis, Ptosis, Renal insufficiency, Scoliosis, Spina bifida, Strabismus, Syndactyly of fingers, Syndactyly of the toes, Tetralogy of fallotView all (37 more) |
|
3098
|
|
|
Aldehyde dehydrogenase 1 family member B1 |
ALDH5, ALDHX |
|
|
3099
|
|
|
Fibroblast activation protein alpha |
DPPIV, FAPA, FAPalpha, SIMP |
|
|
3100
|
|
|
Fibulin 1 |
FBLN, FIBL1 |
Bipolar disorder, Carpal synostosis, Developmental delay-central nervous system anomaly-syndactyly syndrome, Endometrioma, Endometriosis, Polydactyly, Prostatic neoplasms, Prostate cancer, Syndactyly of the toes, Synpolydactyly, Tarsal coalition |