Disease table
Disease phenotype | OMIM | Gene symbol (chromosome) protein |
| Facio-scapulo-humeral muscular dystrophy (1.12) | 619477 | LRIF1 (1p13.3) Ligand-Dependent Nuclear Receptor-Interacting Factor 1      |
| Facio-scapulo-humeral muscular dystrophy, type 2 (1.11) | 158901 | SMCHD1 (18p11.32) Structural maintenance of chromosomes flexible hinge domain containing 1  |
| Familial amyloid neuropathy (16.4) | TTR (18q12.1) Transthyretin (prealbumin, amyloidosis type I) | |
| Familial amyotrophic lateral sclerosis (4.13, 12.72) | 606070 | MATR3 (5q31) Matrin 3 |
| Familial brachial plexus neuropathy (14.131) | 162100 | SEPT9 (17q25) Septin 9 |
| Familial dysautonomia (Riley-Day syndrome) (16.3, 14.112) | 223900 | ELP1 (9q31.3) Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein |
| Familial hypertrophic cardiomyopathy, 13 (10.12, 10.64) | 613243 | TNNC1 (3p21.3-p14.3) Slow troponin C |
| Familial hypertrophic cardiomyopathy, 14 (10.1, 10.69, 10.13, 10.189) | 613251 | MYH6 (14q12) Myosin heavy chain 6 |
| Familial imb-girdle myasthenia with tubular aggregates related to DPAGT1 (11.21) | 614750 | DPAGT1 (11q23.3) Dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) |
| Familial limb girdle myasthenia related to agrin (11.16, 16.32) | 254300 | AGRN (1p36.33) Agrin |
| Familial limb girdle myasthenia with tubular aggregates related to GFPT1 (11.20) | 610542 | GFPT1 (2p12-p15) Glutamine-fructose-6-phosphate transaminase 1 |
| Familial limb-girdle myasthenia related to DOK7 (11.18, 16.28) | 254300 | DOK7 (4p16.2) Docking protein 7 |
| familial sinusal bradycardia (10.188, 10.184) | 163800 | HCN4 (3p22.2) Hyperpolarization activated cyclic nucleotide-gated potassium channel 4 |
| Familial spastic paraplegia, autosomal dominant, 2 (15.2) | 182601 | SPAST (2p24-p21) Spastin |
| Fatty aldehyde dehydrogenase (15.80) | 270200 | ALDH3A2 (17p11.2) Aldehyde dehydrogenase 3A2 |
| Fetal akinesia deformation related to AGRN (11.16, 16.32) | AGRN (1p36.33) Agrin | |
| Fetal akinesia deformation sequance with MUSK defect (11.17, 16.27) | 208150 | MUSK (9q31.3-q32) Muscle, skeletal, receptor tyrosine kinase |
| Fetal akinesia deformation sequence 2 (11.19, 16.29) | 618388 | RAPSN (11p11.2-p11.1) Rapsyn |
| Fetal akinesia deformation sequence 3 (11.18, 16.28) | 618389 | DOK7 (4p16.2) Docking protein 7 |
| Fetal akinesia deformation sequence 4 (16.30) | 618393 | NUP88 (17p13.2) Nucleoporin 88kD |
| Fetal akinesia deformation sequence related to RYR1 (8.1, 3.27, 3.28, 3.24, 5.39, 3.26, 2.50, 16.31, 3.60) | RYR1 (19q13.1) Ryanodine receptor 1 (skeletal) | |
| Fibrodysplasia ossificans progressiva (5.29) | 135100 | ACVR1 (2q23-q24) Activin A receptor, type II-like kinase 2 |
| Fibrosis of extraocular muscles, congenital, 1 (16.5) | 135700 | KIF21A (12q12) Kinesin family member 21A |
| Fibrosis of extraocular muscles, congenital, 2 (16.6) | 602078 | PHOX2A (11q13.2) Paired-like aristaless homeobox protein 2A |
| Fibrosis of extraocular muscles, congenital, 3 (16.7) | 600638 | TUBB3 (16q24.3) Tubulin, beta 3 |
| Fibrosis of extraocular muscles, congenital, 5 (16.8) | 616219 | COL25A1 (4q25) Collagen, type XXV, alpha-1 |
| Friedreich ataxia (13.57) | 229300 | FXN (9q13-q21.1) Frataxin (M) |
| friedreich ataxia 2 (13.58) | 601992 | ? - (9p23-p11) |
| Friedreich ataxia with retained reflexes (13.57) | 229300 | FXN (9q13-q21.1) Frataxin (M) |
| fukuyama congenital muscular dystrophy (2.35, 2.21, 10.62, ) | 253800 | FKTN (9q31-q33) Fukutin |