Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | ACTA1 CL E G H | 58 | 129 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | | | | 96 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | ACTN4 CL E G H | 81 | 166 | OMIM:603278 | Focal segmental glomerulosclerosis 1 | | | | 27 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | ADD3 CL E G H | 120 | 245 | OMIM:617008 | Cerebral palsy, spastic quadriplegic, 3 | | | | 3 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | AFG3L2 CL E G H | 10939 | 315 | OMIM:614487 | Spastic ataxia 5, autosomal recessive | | | | 86 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | AGK CL E G H | 55750 | 21869 | OMIM:212350 | Sengers syndrome | | | | 82 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | ANO5 CL E G H | 203859 | 27337 | OMIM:613319 | Miyoshi muscular dystrophy 3 | | | | 304 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | ANO5 CL E G H | 203859 | 27337 | OMIM:611307 | Muscular dystrophy, limb-girdle, type 2L | | | | 304 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | ATL1 CL E G H | 51062 | 11231 | OMIM:182600 | Spastic paraplegia 3, autosomal dominant | | | | 71 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | ATP6V1A CL E G H | 523 | 851 | OMIM:618012 | Epileptic encephalopathy, infantile or early childhood, 3 | | | | 3 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | BRPF1 CL E G H | 7862 | 14255 | OMIM:617333 | Intellectual developmental disorder with dysmorphic facies and ptosis | | | | 10 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | CA5A CL E G H | 763 | 1377 | OMIM:615751 | Hyperammonemia due to carbonic anhydrase VA deficiency | | | | 10 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | | | | 85 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | CD3E CL E G H | 916 | 1674 | OMIM:615615 | Immunodeficiency 18 | | | | 24 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | CDON CL E G H | 50937 | 17104 | OMIM:614226 | Holoprosencephaly 11 | | | | 200 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | CFD CL E G H | 1675 | 2771 | OMIM:613912 | Complement factor D deficiency | | | | 4 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | CHRNE CL E G H | 1145 | 1966 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | | | | 139 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | CIT CL E G H | 11113 | 1985 | OMIM:617090 | Microcephaly 17, primary, autosomal recessive | | | | 15 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | CLPX CL E G H | 10845 | 2088 | OMIM:618015 | Protoporphyria, erythropoietic, 2 | | | | | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | COL6A1 CL E G H | 1291 | 2211 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | | | | 442 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | COL6A2 CL E G H | 1292 | 2212 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | | | | 478 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | COL6A3 CL E G H | 1293 | 2213 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | | | | 702 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | COQ8A CL E G H | 56997 | 16812 | OMIM:612016 | Coenzyme Q10 deficiency, primary, 4 | | | | 136 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | COX1 CL E G H | 4512 | 7419 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | COX2 CL E G H | 4513 | 7421 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | COX3 CL E G H | 4514 | 7422 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | CSPP1 CL E G H | 79848 | 26193 | OMIM:615636 | Joubert syndrome 21 | | | | 57 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | CYTB CL E G H | 4519 | 7427 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | DAG1 CL E G H | 1605 | 2666 | OMIM:616538 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 | | | | 108 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | DARS2 CL E G H | 55157 | 25538 | OMIM:611105 | Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation | | | | 60 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | DEGS1 CL E G H | 8560 | 13709 | OMIM:618404 | Leukodystrophy, hypomyelinating, 18 | | | | | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | DHDDS CL E G H | 79947 | 20603 | OMIM:617836 | Developmental delay and seizures with or without movement abnormalities | | | | 47 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | DHFR CL E G H | 1719 | 2861 | OMIM:613839 | Megaloblastic anemia due to dihydrofolate reductase deficiency | | | | 7 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | DLX5 CL E G H | 1749 | 2918 | OMIM:183600 | Split-Hand/foot malformation 1 | | | | 3 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:617052 | Bone marrow failure syndrome 3 | . | | | 5 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | DPAGT1 CL E G H | 1798 | 2995 | OMIM:608093 | Congenital disorder of glycosylation, type Ij | | | | 38 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | DPM1 CL E G H | 8813 | 3005 | OMIM:608799 | Congenital disorder of glycosylation, type IE | | | | 27 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | EIF2S3 CL E G H | 1968 | 3267 | OMIM:300148 | Mehmo syndrome | | | | 8 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | EPHB4 CL E G H | 2050 | 3395 | OMIM:617300 | Lymphatic malformation 7 | | | | 3 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | EXOSC2 CL E G H | 23404 | 17097 | OMIM:617763 | Short stature, hearing loss, retinitis pigmentosa, and distinctive facies | | | | | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | EXOSC3 CL E G H | 51010 | 17944 | OMIM:614678 | Pontocerebellar hypoplasia, type 1B | | | | 38 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | EYA1 CL E G H | 2138 | 3519 | OMIM:602588 | Branchiootic syndrome 1 | | | | 135 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | F10 CL E G H | 2159 | 3528 | OMIM:227600 | Factor X deficiency | | | | 33 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | F2 CL E G H | 2147 | 3535 | OMIM:613679 | Congenital prothrombin deficiency | | | | 44 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | F7 CL E G H | 2155 | 3544 | OMIM:227500 | Factor VII deficiency | | | | 70 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | FBXO38 CL E G H | 81545 | 28844 | OMIM:615575 | Neuronopathy, distal hereditary motor, type IID | | | | 1 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | FGF12 CL E G H | 2257 | 3668 | OMIM:617166 | Epileptic encephalopathy, early infantile, 47 | | | | 3 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:611228 | Charcot-Marie-Tooth disease, type 4J | | | | 111 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:612691 | Polymicrogyria, bilateral temporooccipital | | | | 111 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:606612 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5 | | | | 157 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:607155 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | | | | 157 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:611588 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 | | | | 184 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | GABRB2 CL E G H | 2561 | 4082 | OMIM:617829 | Epileptic encephalopathy, infantile or early childhood, 2 | | | | 44 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | GATA1 CL E G H | 2623 | 4170 | OMIM:300835 | Anemia, X-linked, with or without neutropenia and/or platelet abnormalities | | | | 29 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | GATA1 CL E G H | 2623 | 4170 | OMIM:300367 | Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | | | | 29 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | GCH1 CL E G H | 2643 | 4193 | OMIM:233910 | Hyperphenylalaninemia, BH4-deficient, B | | | | 86 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | GFPT1 CL E G H | 2673 | 4241 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | | | | 128 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | GJB6 CL E G H | 10804 | 4288 | OMIM:129500 | Clouston syndrome | | | | 56 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | GLE1 CL E G H | 2733 | 4315 | OMIM:611890 | Congenital arthrogryposis with anterior horn cell disease | | | | 45 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | GLI2 CL E G H | 2736 | 4318 | OMIM:615849 | Culler-Jones syndrome | | | | 173 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | GLI2 CL E G H | 2736 | 4318 | OMIM:610829 | Holoprosencephaly 9 | | | | 173 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:175700 | Greig cephalopolysyndactyly syndrome | | | | 270 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | | | | 270 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | GM2A CL E G H | 2760 | 4367 | OMIM:272750 | Gm2-Gangliosidosis, ab variant | | | | 69 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:166350 | Osseous heteroplasia, progressive | | | | 101 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | GP6 CL E G H | 51206 | 14388 | OMIM:614201 | Bleeding disorder, platelet-type, 11 | | | | 24 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | GRIA4 CL E G H | 2893 | 4574 | OMIM:617864 | Neurodevelopmental disorder with or without seizures and gait abnormalities | | | | | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | GRIN2D CL E G H | 2906 | 4588 | OMIM:617162 | Epileptic encephalopathy, early infantile, 46 | . | | | 2 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | GTPBP3 CL E G H | 84705 | 14880 | OMIM:616198 | Combined oxidative phosphorylation deficiency 23 | | | | 30 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | GUCY1A1 CL E G H | 2982 | 4685 | OMIM:615750 | Moyamoya disease 6 with achalasia | | | | | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | HARS1 CL E G H | 3035 | 4816 | OMIM:616625 | Charcot-Marie-Tooth disease, axonal, type 2W | | | | | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | HDAC8 CL E G H | 55869 | 13315 | OMIM:300882 | Cornelia de Lange syndrome 5 | | | | 37 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | IARS1 CL E G H | 3376 | 5330 | OMIM:617093 | Growth retardation, impaired intellectual development, hypotonia, and hepatopathy | | | | | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | IBA57 CL E G H | 200205 | 27302 | OMIM:615330 | Multiple mitochondrial dysfunctions syndrome 3 | | | | 16 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | KCNA1 CL E G H | 3736 | 6218 | OMIM:160120 | Episodic ataxia, type 1 | | | | 145 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | KCNMA1 CL E G H | 3778 | 6284 | OMIM:617643 | Cerebellar atrophy, developmental delay, and seizures | | | | 114 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | KIF11 CL E G H | 3832 | 6388 | OMIM:152950 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | | | | 46 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | KIF14 CL E G H | 9928 | 19181 | OMIM:617914 | Microcephaly 20, primary, autosomal recessive | | | | 9 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | KIF1A CL E G H | 547 | 888 | OMIM:614255 | Mental retardation, autosomal dominant 9 | | | | 276 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | KLHL41 CL E G H | 10324 | 16905 | OMIM:615731 | Nemaline myopathy 9 | | | | 13 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | KRT81 CL E G H | 3887 | 6458 | OMIM:158000 | MONILETHRIX | | | | 3 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | KRT83 CL E G H | 3889 | 6460 | OMIM:158000 | MONILETHRIX | | | | 65 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | KRT86 CL E G H | 3892 | 6463 | OMIM:158000 | MONILETHRIX | | | | 10 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | LAMA1 CL E G H | 284217 | 6481 | OMIM:615960 | Poretti-Boltshauser syndrome | | | | 35 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:613205 | Muscular dystrophy, congenital, lmna-related | | | | 645 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | MAPKBP1 CL E G H | 23005 | 29536 | OMIM:617271 | Nephronophthisis 20 | | | | 6 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308205 | Ifap syndrome with or without bresheck syndrome | | | | 22 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | MCM2 CL E G H | 4171 | 6944 | OMIM:616968 | Deafness, autosomal dominant 70 | | | | 1 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | MFN2 CL E G H | 9927 | 16877 | OMIM:617087 | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | | | | 203 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | MFN2 CL E G H | 9927 | 16877 | OMIM:609260 | Charcot-marie-tooth disease, axonal, type 2A2A | | | | 203 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | MPC1 CL E G H | 51660 | 21606 | OMIM:614741 | Mitochondrial pyruvate carrier deficiency | | | | 6 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | MPDZ CL E G H | 8777 | 7208 | OMIM:615219 | Hydrocephalus, congenital, 2, with or without brain or eye anomalies | | | | 29 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | MRE11 CL E G H | 4361 | 7230 | OMIM:604391 | Ataxia-Telangiectasia-Like disorder 1 | | | | 532 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | MRPS7 CL E G H | 51081 | 14499 | OMIM:617872 | Combined oxidative phosphorylation deficiency 34 | | | | 12 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | | | | 1269 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | ND1 CL E G H | 4535 | 7455 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | ND5 CL E G H | 4540 | 7461 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | ND6 CL E G H | 4541 | 7462 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | NDUFA1 CL E G H | 4694 | 7683 | OMIM:301020 | Mitochondrial complex I deficiency, nuclear type 12 | | | | 7 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | NDUFAF1 CL E G H | 51103 | 18828 | OMIM:618234 | Mitochondrial complex I deficiency, nuclear type 11 | | | | 40 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | NEFH CL E G H | 4744 | 7737 | OMIM:616924 | Charcot-Marie-Tooth disease, axonal, type 2CC | | | | 24 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | NIPA1 CL E G H | 123606 | 17043 | OMIM:600363 | Spastic paraplegia 6, autosomal dominant | | | | 117 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | NRIP1 CL E G H | 8204 | 8001 | OMIM:618270 | Congenital anomalies of kidney and urinary tract 3 | | | | 1 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | NUP107 CL E G H | 57122 | 29914 | OMIM:616730 | Nephrotic syndrome, type 11 | | | | 5 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | ORAI1 CL E G H | 84876 | 25896 | OMIM:615883 | Myopathy, tubular aggregate, 2 | | | | 19 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | PAX3 CL E G H | 5077 | 8617 | OMIM:148820 | Waardenburg syndrome, type 3 | | | | 59 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | PDHX CL E G H | 8050 | 21350 | OMIM:245349 | Pyruvate dehydrogenase e3-binding protein deficiency | | | | 98 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | PEX2 CL E G H | 5828 | 9717 | OMIM:614867 | Peroxisome biogenesis disorder 5B | | | | 82 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | PFKM CL E G H | 5213 | 8877 | OMIM:232800 | Glycogen storage disease VII | | | | 64 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | PIGH CL E G H | 5283 | 8964 | OMIM:618010 | Glycosylphosphatidylinositol biosynthesis defect 17 | | | | 1 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | PIGN CL E G H | 23556 | 8967 | OMIM:614080 | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | | | | 37 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | PITX2 CL E G H | 5308 | 9005 | OMIM:180500 | Axenfeld-rieger syndrome, type 1 | | | | 51 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | PLAA CL E G H | 9373 | 9043 | OMIM:617527 | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | | | | 3 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:118220 | Charcot-Marie-Tooth disease, demyelinating, type 1A | | | | 79 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | PNPLA2 CL E G H | 57104 | 30802 | OMIM:610717 | Neutral lipid storage disease with myopathy | | | | 65 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | POLG2 CL E G H | 11232 | 9180 | OMIM:610131 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | | | | 45 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:609308 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 | | | | 213 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:613158 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 | | | | 221 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | PRDM8 CL E G H | 56978 | 13993 | OMIM:616640 | Epilepsy, progressive myoclonic, 10 | | | | 1 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | PRPS1 CL E G H | 5631 | 9462 | OMIM:311070 | Charcot-Marie-Tooth disease, X-linked recessive, 5 | | | | 49 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:249900 | Metachromatic leukodystrophy due to saposin B deficiency | | | | 81 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | PTPRO CL E G H | 5800 | 9678 | OMIM:614196 | Nephrotic syndrome, type 6 | | | | 2 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | QDPR CL E G H | 5860 | 9752 | OMIM:261630 | Hyperphenylalaninemia, bh4-deficient, C | | | | 43 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | RARS1 CL E G H | 5917 | 9870 | OMIM:616140 | Leukodystrophy, hypomyelinating, 9 | | | | | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | RHOBTB2 CL E G H | 23221 | 18756 | OMIM:618004 | Epileptic encephalopathy, early infantile, 64 | | | | 1 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | RMND1 CL E G H | 55005 | 21176 | OMIM:614922 | Combined oxidative phosphorylation deficiency 11 | | | | 26 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | RNASEH2B CL E G H | 79621 | 25671 | OMIM:610181 | Aicardi-Goutieres syndrome 2 | | | | 34 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | ROGDI CL E G H | 79641 | 29478 | OMIM:226750 | Kohlschutter-Tonz syndrome | | | | 57 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | RTEL1 CL E G H | 51750 | 15888 | OMIM:615190 | Dyskeratosis congenita, autosomal recessive 5 | | | | 77 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | | | | 1200 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | SAMD9L CL E G H | 219285 | 1349 | OMIM:159550 | Ataxia-Pancytopenia syndrome | | | | 4 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | SAMHD1 CL E G H | 25939 | 15925 | OMIM:612952 | Aicardi-Goutieres syndrome 5 | | | | 55 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | SCN1A CL E G H | 6323 | 10585 | OMIM:604403 | Generalized epilepsy with febrile seizures plus, type 2 | | | | 1053 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | SCN2A CL E G H | 6326 | 10588 | OMIM:613721 | Epileptic encephalopathy, early infantile, 11 | | | | 427 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | SCN4A CL E G H | 6329 | 10591 | OMIM:614198 | Myasthenic syndrome, congenital, 16 | | | | 263 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | SCNN1A CL E G H | 6337 | 10599 | OMIM:618126 | Liddle syndrome 3 | | | | 67 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | SELENON CL E G H | 57190 | 15999 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | | | | 144 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | SERAC1 CL E G H | 84947 | 21061 | OMIM:614739 | 3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome | | | | 47 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | SETX CL E G H | 23064 | 445 | OMIM:606002 | Spinocerebellar ataxia, autosomal recessive 1 | | | | 162 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | SFXN4 CL E G H | 119559 | 16088 | OMIM:615578 | Combined oxidative phosphorylation deficiency 18 | | | | 17 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | SH3KBP1 CL E G H | 30011 | 13867 | OMIM:300310 | Immunodeficiency 61 | | | | 2 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | SHH CL E G H | 6469 | 10848 | OMIM:611638 | Microphthalmia, isolated, with coloboma 5 | | | | 67 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | SHH CL E G H | 6469 | 10848 | OMIM:147250 | Solitary median maxillary central incisor | | | | 67 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | SLC25A26 CL E G H | 115286 | 20661 | OMIM:616794 | Combined oxidative phosphorylation deficiency 28 | | | | 5 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | SLC25A46 CL E G H | 91137 | 25198 | OMIM:616505 | Neuropathy, hereditary motor and sensory, type VIB | | | | 14 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | SLC2A1 CL E G H | 6513 | 11005 | OMIM:614847 | Epilepsy, idiopathic generalized, susceptibility to, 12 | | | | 255 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | SLC52A2 CL E G H | 79581 | 30224 | OMIM:614707 | Brown-Vialetto-Van laere syndrome 2 | | | | 47 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | SLC5A2 CL E G H | 6524 | 11037 | OMIM:233100 | Renal glucosuria | | | | 41 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | SLX4 CL E G H | 84464 | 23845 | OMIM:613951 | Fanconi anemia, complementation group P | | | | 274 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | SPAST CL E G H | 6683 | 11233 | OMIM:182601 | Spastic paraplegia 4, autosomal dominant | | | | 208 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | SPG21 CL E G H | 51324 | 20373 | OMIM:248900 | Mast syndrome | | | | 28 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | SPR CL E G H | 6697 | 11257 | OMIM:612716 | Dystonia, dopa-responsive, due to sepiapterin reductase deficiency | | | | 28 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | STIM1 CL E G H | 6786 | 11386 | OMIM:612783 | Immunodeficiency 10 | | | | 31 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | STX1B CL E G H | 112755 | 18539 | OMIM:616172 | Generalized epilepsy with febrile seizures plus, type 9 | | | | 9 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | SURF1 CL E G H | 6834 | 11474 | OMIM:616684 | Charcot-Marie-Tooth disease, type 4K | | | | 73 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | TBCK CL E G H | 93627 | 28261 | OMIM:616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | | | | 13 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | TENM4 CL E G H | 26011 | 29945 | OMIM:616736 | Tremor, hereditary essential, 5 | | | | 5 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | TH CL E G H | 7054 | 11782 | OMIM:605407 | Segawa syndrome, autosomal recessive | | | | 80 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | TMEM126A CL E G H | 84233 | 25382 | OMIM:612989 | Optic atrophy 7 with or without auditory neuropathy | | | | 23 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | TNFRSF11B CL E G H | 4982 | 11909 | OMIM:239000 | Paget disease of bone 5, juvenile-onset | | | | 44 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | TPM2 CL E G H | 7169 | 12011 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | | | | 54 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | TPM3 CL E G H | 7170 | 12012 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | | | | 108 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | TRNC CL E G H | 4511 | 7477 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | TRNF CL E G H | 4558 | 7481 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | TRNK CL E G H | 4566 | 7489 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | TRNL1 CL E G H | 4567 | 7490 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | TRNQ CL E G H | 4572 | 7495 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | TRNS1 CL E G H | 4574 | 7497 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | TRNS2 CL E G H | 4575 | 7498 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | TRNV CL E G H | 4577 | 7500 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | TRNW CL E G H | 4578 | 7501 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | | | | | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | TUBB2A CL E G H | 7280 | 12412 | OMIM:615763 | Cortical dysplasia, complex, with other brain malformations 5 | | | | 23 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | TUBB2B CL E G H | 347733 | 30829 | OMIM:610031 | Cortical dysplasia, complex, with other brain malformations 7 | | | | 39 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | TUBB4A CL E G H | 10382 | 20774 | OMIM:612438 | Leukodystrophy, hypomyelinating, 6 | | | | 66 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | TUBB6 CL E G H | 84617 | 20776 | OMIM:617732 | Facial palsy, congenital, with ptosis and velopharyngeal dysfunction | | | | | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | | | | 18 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | VCP CL E G H | 7415 | 12666 | OMIM:616687 | Charcot-Marie-Tooth disease, axonal, type 2Y | | | | 63 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | VEGFC CL E G H | 7424 | 12682 | OMIM:615907 | Lymphedema, hereditary, ID | | | | 4 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | VPS13D CL E G H | 55187 | 23595 | OMIM:607317 | Spinocerebellar ataxia, autosomal recessive 4 | | | | | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | VWF CL E G H | 7450 | 12726 | OMIM:613554 | Von willebrand disease, type 2 | | | | 533 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | WDR26 CL E G H | 80232 | 21208 | OMIM:617616 | Skraban-Deardorff syndrome | | | | 8 | | |
HP:0003812 | HP:0003812 | Phenotypic variability | 0 | WWOX CL E G H | 51741 | 12799 | OMIM:616211 | Epileptic encephalopathy, early infantile, 28 | | | | 149 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | ACTA1 CL E G H | 58 | 129 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 96 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | ACTN4 CL E G H | 81 | 166 | OMIM:603278 | Focal segmental glomerulosclerosis 1 | . | | | 27 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | ADD3 CL E G H | 120 | 245 | OMIM:617008 | Cerebral palsy, spastic quadriplegic, 3 | . | | | 3 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | AFG3L2 CL E G H | 10939 | 315 | OMIM:614487 | Spastic ataxia 5, autosomal recessive | . | | | 86 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | AGK CL E G H | 55750 | 21869 | OMIM:212350 | Sengers syndrome | . | | | 82 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | ANO5 CL E G H | 203859 | 27337 | OMIM:613319 | Miyoshi muscular dystrophy 3 | . | | | 304 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | ANO5 CL E G H | 203859 | 27337 | OMIM:611307 | Muscular dystrophy, limb-girdle, type 2L | . | | | 304 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | ATL1 CL E G H | 51062 | 11231 | OMIM:182600 | Spastic paraplegia 3, autosomal dominant | . | | | 71 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | ATP6V1A CL E G H | 523 | 851 | OMIM:618012 | Epileptic encephalopathy, infantile or early childhood, 3 | . | | | 3 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | BRPF1 CL E G H | 7862 | 14255 | OMIM:617333 | Intellectual developmental disorder with dysmorphic facies and ptosis | . | | | 10 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | CA5A CL E G H | 763 | 1377 | OMIM:615751 | Hyperammonemia due to carbonic anhydrase VA deficiency | . | | | 10 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | . | | | 85 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | CD3E CL E G H | 916 | 1674 | OMIM:615615 | Immunodeficiency 18 | . | | | 24 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | CDON CL E G H | 50937 | 17104 | OMIM:614226 | Holoprosencephaly 11 | . | | | 200 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | CFD CL E G H | 1675 | 2771 | OMIM:613912 | Complement factor D deficiency | . | | | 4 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | CHRNE CL E G H | 1145 | 1966 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | . | | | 139 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | CIT CL E G H | 11113 | 1985 | OMIM:617090 | Microcephaly 17, primary, autosomal recessive | . | | | 15 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | CLPX CL E G H | 10845 | 2088 | OMIM:618015 | Protoporphyria, erythropoietic, 2 | . | | | | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | COL6A1 CL E G H | 1291 | 2211 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 442 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | COL6A2 CL E G H | 1292 | 2212 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 478 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | COL6A3 CL E G H | 1293 | 2213 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 702 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | COQ8A CL E G H | 56997 | 16812 | OMIM:612016 | Coenzyme Q10 deficiency, primary, 4 | . | | | 136 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | COX1 CL E G H | 4512 | 7419 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | COX2 CL E G H | 4513 | 7421 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | COX3 CL E G H | 4514 | 7422 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | CSPP1 CL E G H | 79848 | 26193 | OMIM:615636 | Joubert syndrome 21 | . | | | 57 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | CYTB CL E G H | 4519 | 7427 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | DAG1 CL E G H | 1605 | 2666 | OMIM:616538 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 | . | | | 108 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | DARS2 CL E G H | 55157 | 25538 | OMIM:611105 | Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation | . | | | 60 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | DEGS1 CL E G H | 8560 | 13709 | OMIM:618404 | Leukodystrophy, hypomyelinating, 18 | . | | | | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | DHDDS CL E G H | 79947 | 20603 | OMIM:617836 | Developmental delay and seizures with or without movement abnormalities | . | | | 47 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | DHFR CL E G H | 1719 | 2861 | OMIM:613839 | Megaloblastic anemia due to dihydrofolate reductase deficiency | . | | | 7 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | DLX5 CL E G H | 1749 | 2918 | OMIM:183600 | Split-Hand/foot malformation 1 | . | | | 3 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | DPAGT1 CL E G H | 1798 | 2995 | OMIM:608093 | Congenital disorder of glycosylation, type Ij | . | | | 38 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | DPM1 CL E G H | 8813 | 3005 | OMIM:608799 | Congenital disorder of glycosylation, type IE | . | | | 27 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | EIF2S3 CL E G H | 1968 | 3267 | OMIM:300148 | Mehmo syndrome | . | | | 8 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | EPHB4 CL E G H | 2050 | 3395 | OMIM:617300 | Lymphatic malformation 7 | . | | | 3 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | EXOSC2 CL E G H | 23404 | 17097 | OMIM:617763 | Short stature, hearing loss, retinitis pigmentosa, and distinctive facies | . | | | | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | EXOSC3 CL E G H | 51010 | 17944 | OMIM:614678 | Pontocerebellar hypoplasia, type 1B | . | | | 38 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | EYA1 CL E G H | 2138 | 3519 | OMIM:602588 | Branchiootic syndrome 1 | . | | | 135 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | F10 CL E G H | 2159 | 3528 | OMIM:227600 | Factor X deficiency | . | | | 33 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | F2 CL E G H | 2147 | 3535 | OMIM:613679 | Congenital prothrombin deficiency | . | | | 44 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | F7 CL E G H | 2155 | 3544 | OMIM:227500 | Factor VII deficiency | . | | | 70 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | FBXO38 CL E G H | 81545 | 28844 | OMIM:615575 | Neuronopathy, distal hereditary motor, type IID | . | | | 1 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | FGF12 CL E G H | 2257 | 3668 | OMIM:617166 | Epileptic encephalopathy, early infantile, 47 | . | | | 3 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101400 | Saethre-Chotzen syndrome | . | | | 175 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | FIG4 CL E G H | 9896 | 16873 | OMIM:611228 | Charcot-Marie-Tooth disease, type 4J | . | | | 111 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | FIG4 CL E G H | 9896 | 16873 | OMIM:612691 | Polymicrogyria, bilateral temporooccipital | . | | | 111 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | FKRP CL E G H | 79147 | 17997 | OMIM:606612 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5 | . | | | 157 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | FKRP CL E G H | 79147 | 17997 | OMIM:607155 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | . | | | 157 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | FKTN CL E G H | 2218 | 3622 | OMIM:611588 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 | . | | | 184 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | GABRB2 CL E G H | 2561 | 4082 | OMIM:617829 | Epileptic encephalopathy, infantile or early childhood, 2 | . | | | 44 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | GATA1 CL E G H | 2623 | 4170 | OMIM:300835 | Anemia, X-linked, with or without neutropenia and/or platelet abnormalities | . | | | 29 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | GATA1 CL E G H | 2623 | 4170 | OMIM:300367 | Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | . | | | 29 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | GCH1 CL E G H | 2643 | 4193 | OMIM:233910 | Hyperphenylalaninemia, BH4-deficient, B | . | | | 86 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | GFPT1 CL E G H | 2673 | 4241 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | . | | | 128 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | GJB6 CL E G H | 10804 | 4288 | OMIM:129500 | Clouston syndrome | . | | | 56 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | GLE1 CL E G H | 2733 | 4315 | OMIM:611890 | Congenital arthrogryposis with anterior horn cell disease | . | | | 45 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | GLI2 CL E G H | 2736 | 4318 | OMIM:615849 | Culler-Jones syndrome | . | | | 173 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | GLI2 CL E G H | 2736 | 4318 | OMIM:610829 | Holoprosencephaly 9 | | | | 173 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | GLI3 CL E G H | 2737 | 4319 | OMIM:175700 | Greig cephalopolysyndactyly syndrome | . | | | 270 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | . | | | 270 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | GM2A CL E G H | 2760 | 4367 | OMIM:272750 | Gm2-Gangliosidosis, ab variant | . | | | 69 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | GNAS CL E G H | 2778 | 4392 | OMIM:166350 | Osseous heteroplasia, progressive | . | | | 101 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | GP6 CL E G H | 51206 | 14388 | OMIM:614201 | Bleeding disorder, platelet-type, 11 | . | | | 24 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | GRIA4 CL E G H | 2893 | 4574 | OMIM:617864 | Neurodevelopmental disorder with or without seizures and gait abnormalities | . | | | | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | GTPBP3 CL E G H | 84705 | 14880 | OMIM:616198 | Combined oxidative phosphorylation deficiency 23 | . | | | 30 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | GUCY1A1 CL E G H | 2982 | 4685 | OMIM:615750 | Moyamoya disease 6 with achalasia | . | | | | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | HARS1 CL E G H | 3035 | 4816 | OMIM:616625 | Charcot-Marie-Tooth disease, axonal, type 2W | . | | | | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | HDAC8 CL E G H | 55869 | 13315 | OMIM:300882 | Cornelia de Lange syndrome 5 | . | | | 37 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | IARS1 CL E G H | 3376 | 5330 | OMIM:617093 | Growth retardation, impaired intellectual development, hypotonia, and hepatopathy | . | | | | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | IBA57 CL E G H | 200205 | 27302 | OMIM:615330 | Multiple mitochondrial dysfunctions syndrome 3 | . | | | 16 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | KCNA1 CL E G H | 3736 | 6218 | OMIM:160120 | Episodic ataxia, type 1 | . | | | 145 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | KCNMA1 CL E G H | 3778 | 6284 | OMIM:617643 | Cerebellar atrophy, developmental delay, and seizures | . | | | 114 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | KIF11 CL E G H | 3832 | 6388 | OMIM:152950 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | . | | | 46 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | KIF14 CL E G H | 9928 | 19181 | OMIM:617914 | Microcephaly 20, primary, autosomal recessive | . | | | 9 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | KIF1A CL E G H | 547 | 888 | OMIM:614255 | Mental retardation, autosomal dominant 9 | . | | | 276 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | KLHL41 CL E G H | 10324 | 16905 | OMIM:615731 | Nemaline myopathy 9 | . | | | 13 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | KRT81 CL E G H | 3887 | 6458 | OMIM:158000 | MONILETHRIX | . | | | 3 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | KRT83 CL E G H | 3889 | 6460 | OMIM:158000 | MONILETHRIX | . | | | 65 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | KRT86 CL E G H | 3892 | 6463 | OMIM:158000 | MONILETHRIX | . | | | 10 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | LAMA1 CL E G H | 284217 | 6481 | OMIM:615960 | Poretti-Boltshauser syndrome | . | | | 35 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | LMNA CL E G H | 4000 | 6636 | OMIM:613205 | Muscular dystrophy, congenital, lmna-related | . | | | 645 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | MAPKBP1 CL E G H | 23005 | 29536 | OMIM:617271 | Nephronophthisis 20 | . | | | 6 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308205 | Ifap syndrome with or without bresheck syndrome | . | | | 22 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | MCM2 CL E G H | 4171 | 6944 | OMIM:616968 | Deafness, autosomal dominant 70 | . | | | 1 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | MFN2 CL E G H | 9927 | 16877 | OMIM:617087 | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | . | | | 203 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | MFN2 CL E G H | 9927 | 16877 | OMIM:609260 | Charcot-marie-tooth disease, axonal, type 2A2A | . | | | 203 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | MPC1 CL E G H | 51660 | 21606 | OMIM:614741 | Mitochondrial pyruvate carrier deficiency | . | | | 6 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | MPDZ CL E G H | 8777 | 7208 | OMIM:615219 | Hydrocephalus, congenital, 2, with or without brain or eye anomalies | . | | | 29 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | MRE11 CL E G H | 4361 | 7230 | OMIM:604391 | Ataxia-Telangiectasia-Like disorder 1 | . | | | 532 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | MRPS7 CL E G H | 51081 | 14499 | OMIM:617872 | Combined oxidative phosphorylation deficiency 34 | . | | | 12 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | MYH7 CL E G H | 4625 | 7577 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 1269 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | . | | | 23 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | ND1 CL E G H | 4535 | 7455 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | ND5 CL E G H | 4540 | 7461 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | ND6 CL E G H | 4541 | 7462 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | NDUFA1 CL E G H | 4694 | 7683 | OMIM:301020 | Mitochondrial complex I deficiency, nuclear type 12 | . | | | 7 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | NDUFAF1 CL E G H | 51103 | 18828 | OMIM:618234 | Mitochondrial complex I deficiency, nuclear type 11 | . | | | 40 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | NEFH CL E G H | 4744 | 7737 | OMIM:616924 | Charcot-Marie-Tooth disease, axonal, type 2CC | . | | | 24 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | NIPA1 CL E G H | 123606 | 17043 | OMIM:600363 | Spastic paraplegia 6, autosomal dominant | . | | | 117 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | NRIP1 CL E G H | 8204 | 8001 | OMIM:618270 | Congenital anomalies of kidney and urinary tract 3 | . | | | 1 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | NUP107 CL E G H | 57122 | 29914 | OMIM:616730 | Nephrotic syndrome, type 11 | . | | | 5 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | ORAI1 CL E G H | 84876 | 25896 | OMIM:615883 | Myopathy, tubular aggregate, 2 | . | | | 19 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | PAX3 CL E G H | 5077 | 8617 | OMIM:148820 | Waardenburg syndrome, type 3 | . | | | 59 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | PDHX CL E G H | 8050 | 21350 | OMIM:245349 | Pyruvate dehydrogenase e3-binding protein deficiency | . | | | 98 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | PEX2 CL E G H | 5828 | 9717 | OMIM:614867 | Peroxisome biogenesis disorder 5B | . | | | 82 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | PFKM CL E G H | 5213 | 8877 | OMIM:232800 | Glycogen storage disease VII | . | | | 64 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | PIGH CL E G H | 5283 | 8964 | OMIM:618010 | Glycosylphosphatidylinositol biosynthesis defect 17 | . | | | 1 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | PIGN CL E G H | 23556 | 8967 | OMIM:614080 | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | . | | | 37 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | PITX2 CL E G H | 5308 | 9005 | OMIM:180500 | Axenfeld-rieger syndrome, type 1 | . | | | 51 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | PLAA CL E G H | 9373 | 9043 | OMIM:617527 | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | . | | | 3 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | PMP22 CL E G H | 5376 | 9118 | OMIM:118220 | Charcot-Marie-Tooth disease, demyelinating, type 1A | . | | | 79 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | PNPLA2 CL E G H | 57104 | 30802 | OMIM:610717 | Neutral lipid storage disease with myopathy | . | | | 65 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | POLG2 CL E G H | 11232 | 9180 | OMIM:610131 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | . | | | 45 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | POMT1 CL E G H | 10585 | 9202 | OMIM:609308 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 | . | | | 213 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | POMT2 CL E G H | 29954 | 19743 | OMIM:613158 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 | . | | | 221 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | PRDM8 CL E G H | 56978 | 13993 | OMIM:616640 | Epilepsy, progressive myoclonic, 10 | . | | | 1 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | PRPS1 CL E G H | 5631 | 9462 | OMIM:311070 | Charcot-Marie-Tooth disease, X-linked recessive, 5 | . | | | 49 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | PSAP CL E G H | 5660 | 9498 | OMIM:249900 | Metachromatic leukodystrophy due to saposin B deficiency | . | | | 81 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | PTPRO CL E G H | 5800 | 9678 | OMIM:614196 | Nephrotic syndrome, type 6 | . | | | 2 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | QDPR CL E G H | 5860 | 9752 | OMIM:261630 | Hyperphenylalaninemia, bh4-deficient, C | . | | | 43 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | RARS1 CL E G H | 5917 | 9870 | OMIM:616140 | Leukodystrophy, hypomyelinating, 9 | . | | | | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | RHOBTB2 CL E G H | 23221 | 18756 | OMIM:618004 | Epileptic encephalopathy, early infantile, 64 | . | | | 1 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | RMND1 CL E G H | 55005 | 21176 | OMIM:614922 | Combined oxidative phosphorylation deficiency 11 | . | | | 26 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | RNASEH2B CL E G H | 79621 | 25671 | OMIM:610181 | Aicardi-Goutieres syndrome 2 | . | | | 34 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | ROGDI CL E G H | 79641 | 29478 | OMIM:226750 | Kohlschutter-Tonz syndrome | . | | | 57 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | RTEL1 CL E G H | 51750 | 15888 | OMIM:615190 | Dyskeratosis congenita, autosomal recessive 5 | . | | | 77 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | RYR1 CL E G H | 6261 | 10483 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 1200 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | SAMD9L CL E G H | 219285 | 1349 | OMIM:159550 | Ataxia-Pancytopenia syndrome | . | | | 4 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | SAMHD1 CL E G H | 25939 | 15925 | OMIM:612952 | Aicardi-Goutieres syndrome 5 | . | | | 55 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | SCN1A CL E G H | 6323 | 10585 | OMIM:604403 | Generalized epilepsy with febrile seizures plus, type 2 | . | | | 1053 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | SCN2A CL E G H | 6326 | 10588 | OMIM:613721 | Epileptic encephalopathy, early infantile, 11 | . | | | 427 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | SCN4A CL E G H | 6329 | 10591 | OMIM:614198 | Myasthenic syndrome, congenital, 16 | . | | | 263 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | SCNN1A CL E G H | 6337 | 10599 | OMIM:618126 | Liddle syndrome 3 | . | | | 67 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | SELENON CL E G H | 57190 | 15999 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 144 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | SERAC1 CL E G H | 84947 | 21061 | OMIM:614739 | 3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome | . | | | 47 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | SETX CL E G H | 23064 | 445 | OMIM:606002 | Spinocerebellar ataxia, autosomal recessive 1 | . | | | 162 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | SFXN4 CL E G H | 119559 | 16088 | OMIM:615578 | Combined oxidative phosphorylation deficiency 18 | . | | | 17 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | SH3KBP1 CL E G H | 30011 | 13867 | OMIM:300310 | Immunodeficiency 61 | . | | | 2 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | SHH CL E G H | 6469 | 10848 | OMIM:611638 | Microphthalmia, isolated, with coloboma 5 | . | | | 67 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | SHH CL E G H | 6469 | 10848 | OMIM:147250 | Solitary median maxillary central incisor | . | | | 67 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | SLC25A26 CL E G H | 115286 | 20661 | OMIM:616794 | Combined oxidative phosphorylation deficiency 28 | . | | | 5 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | SLC25A46 CL E G H | 91137 | 25198 | OMIM:616505 | Neuropathy, hereditary motor and sensory, type VIB | . | | | 14 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | SLC2A1 CL E G H | 6513 | 11005 | OMIM:614847 | Epilepsy, idiopathic generalized, susceptibility to, 12 | . | | | 255 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | SLC52A2 CL E G H | 79581 | 30224 | OMIM:614707 | Brown-Vialetto-Van laere syndrome 2 | . | | | 47 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | SLC5A2 CL E G H | 6524 | 11037 | OMIM:233100 | Renal glucosuria | . | | | 41 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | SLX4 CL E G H | 84464 | 23845 | OMIM:613951 | Fanconi anemia, complementation group P | . | | | 274 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | SPAST CL E G H | 6683 | 11233 | OMIM:182601 | Spastic paraplegia 4, autosomal dominant | . | | | 208 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | SPG21 CL E G H | 51324 | 20373 | OMIM:248900 | Mast syndrome | . | | | 28 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | SPR CL E G H | 6697 | 11257 | OMIM:612716 | Dystonia, dopa-responsive, due to sepiapterin reductase deficiency | . | | | 28 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | STIM1 CL E G H | 6786 | 11386 | OMIM:612783 | Immunodeficiency 10 | . | | | 31 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | STX1B CL E G H | 112755 | 18539 | OMIM:616172 | Generalized epilepsy with febrile seizures plus, type 9 | . | | | 9 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | SURF1 CL E G H | 6834 | 11474 | OMIM:616684 | Charcot-Marie-Tooth disease, type 4K | . | | | 73 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | TBCK CL E G H | 93627 | 28261 | OMIM:616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | . | | | 13 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | TENM4 CL E G H | 26011 | 29945 | OMIM:616736 | Tremor, hereditary essential, 5 | . | | | 5 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | TH CL E G H | 7054 | 11782 | OMIM:605407 | Segawa syndrome, autosomal recessive | . | | | 80 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | TMEM126A CL E G H | 84233 | 25382 | OMIM:612989 | Optic atrophy 7 with or without auditory neuropathy | . | | | 23 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | TNFRSF11B CL E G H | 4982 | 11909 | OMIM:239000 | Paget disease of bone 5, juvenile-onset | . | | | 44 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | TPM2 CL E G H | 7169 | 12011 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 54 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | TPM3 CL E G H | 7170 | 12012 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 108 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | TRNC CL E G H | 4511 | 7477 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | TRNF CL E G H | 4558 | 7481 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | TRNK CL E G H | 4566 | 7489 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | TRNL1 CL E G H | 4567 | 7490 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | TRNQ CL E G H | 4572 | 7495 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | TRNS1 CL E G H | 4574 | 7497 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | TRNS2 CL E G H | 4575 | 7498 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | TRNV CL E G H | 4577 | 7500 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | TRNW CL E G H | 4578 | 7501 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | TUBB2A CL E G H | 7280 | 12412 | OMIM:615763 | Cortical dysplasia, complex, with other brain malformations 5 | . | | | 23 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | TUBB2B CL E G H | 347733 | 30829 | OMIM:610031 | Cortical dysplasia, complex, with other brain malformations 7 | . | | | 39 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | TUBB4A CL E G H | 10382 | 20774 | OMIM:612438 | Leukodystrophy, hypomyelinating, 6 | . | | | 66 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | TUBB6 CL E G H | 84617 | 20776 | OMIM:617732 | Facial palsy, congenital, with ptosis and velopharyngeal dysfunction | . | | | | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | TWIST1 CL E G H | 7291 | 12428 | OMIM:101400 | Saethre-Chotzen syndrome | . | | | 18 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | VCP CL E G H | 7415 | 12666 | OMIM:616687 | Charcot-Marie-Tooth disease, axonal, type 2Y | . | | | 63 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | VEGFC CL E G H | 7424 | 12682 | OMIM:615907 | Lymphedema, hereditary, ID | . | | | 4 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | VPS13D CL E G H | 55187 | 23595 | OMIM:607317 | Spinocerebellar ataxia, autosomal recessive 4 | . | | | | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | VWF CL E G H | 7450 | 12726 | OMIM:613554 | Von willebrand disease, type 2 | . | | | 533 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | WDR26 CL E G H | 80232 | 21208 | OMIM:617616 | Skraban-Deardorff syndrome | . | | | 8 | | |
HP:0003812 | HP:0003828 | Variable expressivity | 1 | WWOX CL E G H | 51741 | 12799 | OMIM:616211 | Epileptic encephalopathy, early infantile, 28 | . | | | 149 | | |