Gene |
Chromosome |
Location |
Syndrome |
Category |
FA2H | 16 | q23 | Fatty acid hydroxylase-associated neurodegeneration (FAHN) | Cerebral palsy | |
FAAH2 | 23 | p11.21 | FATTY ACID AMIDE HYDROLASE 2 | Autism spectrum | |
FAH | 15 | q25.1 | Tyrosinemia type 01 | Ataxia spectrum | |
FAM126A | 7 | p15.3 | Hypomyelination and congenital cataract | Cataracts | |
FAM47A | 23 | p21.1 | Autism 18 (AUTS18) | Autism spectrum | |
FAM86EP | 4 | p16.3 | Autism 18 (AUTS18) | Autism spectrum | |
FAM86FP | 12 | p13.31 | Autism 18 (AUTS18) | Autism spectrum | |
FAM86HP | 3 | q22.1 | Autism 18 (AUTS18) | Autism spectrum | |
FAM90A1 | 12 | p13.31 | Autism 18 (AUTS18) | Autism spectrum | |
FANCA | 16 | q24.3 | Microcephaly - other | Microcephaly | |
FANCB | 23 | p22.2 | Microcephaly - other | Microcephaly | |
FANCC | 9 | q22.32 | Microcephaly - other | Microcephaly | |
FANCD2 | 3 | p25.3 | Microcephaly - other | Microcephaly | |
FANCE | 6 | p21.31 | Microcephaly - other | Microcephaly | |
FANCF | 11 | p14.3 | Microcephaly - other | Microcephaly | |
FANCG | 9 | p13.3 | Microcephaly - other | Microcephaly | |
FANCI | 15 | q26.1 | Microcephaly - other | Microcephaly | |
FANCL | 2 | p16.1 | Microcephaly - other | Microcephaly | |
FANCM | 14 | q21.2 | Microcephaly - other | Microcephaly | |
FAP1 | 5 | q22.2 | FAMILIAL ADENOMATOUS POLYPOSIS 1 | Autism spectrum | |
FAR1 | 11 | p15.3 | Microcephaly - other | Microcephaly | |
FAS | 10 | q23.31 | Autoimmune lymphoproliferative syndrome | Guillain-Barre spectrum | |
FASLG | 1 | q24.3 | Autoimmune lymphoproliferative syndrome | Guillain-Barre spectrum | |
FAT4 | 4 | q28.1 | Microcephaly - other | Microcephaly | |
FBN1 | 15 | q21.1 | Marfan syndroe | Cataracts | |
FBN2 | 5 | q23-31 | Congenital contractural arachnodactyly | Arthrogryposis spectrum | |
FBXO7 | 22 | q12.3 | Parkinson disease autosomal recessive | Parkinsonism |
FCGR2A | 1 | q23.3 | Rheumatoid arthritis | Arthritis | |
FCGR2B | 1 | q23.3 | Rheumatoid arthritis | Arthritis | |
FCRL3 | 1 | q23.1 | Thyroid disorders | Hypothyroidism | |
FEV | 2 | q35 | Depression anxiety and eating disorders | Panic phobia anxiety | |
FFEVF1 | 22 | Q12.2-3 | EPILEPSY FAMILIAL FOCAL WITH VARIABLE FOCI 1 | Autism spectrum | |
FFEVF3 | 16 | p13.3 | EPILEPSY FAMILIAL FOCAL WITH VARIABLE FOCI 3 | Autism spectrum | |
FFEVF4 | 2 | q24.3 | EPILEPSY FAMILIAL FOCAL WITH VARIABLE FOCI 4 | Autism spectrum | |
FGD1 | 23 | p11.21 | Aarskog-Scott syndrome | Cleft lip / cleft palate | |
FGF10 | 5 | p12-13 | Crouzon syndrome | Cleft lip / cleft palate | |
FGF14 | 13 | q33.1 | Spinocerebellar ataxia type 27 | Ataxia spectrum | |
FGF8 | 10 | q24.32 | Microcephaly - other | Microcephaly | |
FGFR1 | 8 | p11.23 | ECCL Encephalocraniocutaneous lipomatosis | Alopecia | |
FGFR1 | 8 | p11.22-23 | Kallmann syndrome types 1 and 2 | Cleft lip / cleft palate | |
FGFR1OP | 6 | q27 | Crohn Disease | Irritable Bowel Disorders | |
FGFR2 | 10 | q26 | Crouzon syndrome | Cleft lip / cleft palate | |
FGFR3 | 4 | p16.3 | Crouzon syndrome | Cleft lip / cleft palate | |
FGGY | 1 | p32.1 | ALS | ALS - amyotrophic lateral sclerosis | |
FH | 1 | q42.1 | Fumarase deficiency | Microcephaly | |
FHM2 | 1 | q23.2 | MIGRAINE FAMILIAL HEMIPLEGIC 2 | Autism spectrum | |
FIG4 | 6 | q21 | ALS | ALS - amyotrophic lateral sclerosis | |
FKBP10 | 17 | q21.2 | Kuskokwim syndrome | Arthrogryposis spectrum | |
FKRP | 19 | q13.32 | Walker-Warburg syndrome | Microphthalmia | |
FLG | 1 | q21.3 | Atopic dermatitis | Alopecia | |
FLI1 | 11 | q24.1-24.3 | Jacobsen syndrome | Autism spectrum | |
FLJ20518 | 3 | p12.3 | Autism 18 (AUTS18) | Autism spectrum | |
FLNA | 23 | q28 | Periventricular heterotopia | Microcephaly | |
FLNC | 7 | q32.1 | Myofibrillar myopathy | Muscular dystrophies | |
FLVCR1 | 1 | q32.3 | Posterior column ataxia with retinitis pigmentosa | Ataxia spectrum | |
FMR1 | 23 | q27.3 | Fragile X syndrome | Autism spectrum | |
FNLB | 3 | p14.3 | Thyroid disorders | Hypothyroidism | |
FOLR1 | 11 | q13.4 | Cerebral folate transport deficiency | Ataxia spectrum | |
FOXE1 | 9 | q22.33 | Thyroid disorders | Hypothyroidism | |
FOXG1 | 14 | q12 | Microcephaly - other | Microcephaly | |
FOXG1 | 14 | q13 | FOXG1 Syndrome | Autism spectrum | |
FOXH1 | 8 | q24.3 | Microcephaly - other | Microcephaly | |
FOXH1 | 8 | q24.3 | heterotaxy syndrome | Heterotaxy | |
FOXL2 | 3 | q22.3 | Microcephaly - other | Microcephaly | |
FOXN1 | 17 | q11.2 | T-cell immunodeficiency congenital alopecia and nail dystrophy | Alopecia | |
FOXP1 | 3 | p13 | Mental retardation with language impairment | Autism spectrum | |
FOXP2 | 7 | q31.1 | FOXP2-related speech and language disorder | Autism spectrum | |
FOXP2 | 7 | q31.1 | FOXP2-related speech and language disorder | Autism spectrum | |
FOXP2 | 7 | q31.1 | FOXP2-related speech and language disorder | Autism spectrum | |
FOXP2 | 7 | q31.1 | FOXP2-related speech and language disorder | Autism spectrum | |
FOXP3 | 23 | p11.23 | Type 1 Diabetes | Diabetes | |
FOXP3 | 23 | p11.23 | IPEX immune dysregulation polyendocrinopathy enteropathy X-linked syndrome | Hyperthyroidism | |
FRAS1 | 4 | q21.21 | Fraser syndrome | Cleft lip / cleft palate | |
FRAXE | 23 | q28 | MENTAL RETARDATION X-LINKED ASSOCIATED WITH FRAGILE SITE | Autism spectrum | |
FREM2 | 13 | q13.3 | Fraser syndrome | Cleft lip / cleft palate | |
FSHB | 11 | p14.1 | Thyroid disorders | Hypothyroidism | |
FTL | 19 | q13.33 | Hyperferritinemia-cataract syndrome | Cataracts | |
FTO | 16 | q12.2 | Type 2 Diabetes | Diabetes | |
FUS | 16 | p11.2 | ALS | ALS - amyotrophic lateral sclerosis | |
FXN | 9 | q21.11 | Friedreich ataxia | Ataxia spectrum | |
FXS | 23 | q27.3 | Fragile X syndrome | Autism spectrum | |
FXTAS | 23 | q27.3 | FRAGILE X TREMOR/ATAXIA SYNDROME | Autism spectrum | |
FYCO1 | 3 | p21.31 | Cataract 18 multiple types(CTRCT18) | Cataracts | |
FZD9 | 7 | q11.23 | WILLIAMS-BEUREN REGION DUPLICATION SYNDROME | Autism spectrum | |