CATH Superfamily, Code:2.60.40.10, Name:Immunoglobulins
Gene3D assignmnets for this domain have an average length of 92 amino acids
There are 205 Funfam(s) 
for this superfamily
The superfamily is found in 5016 unique domain organisation(s) (architectures)
The superfamily has the following counts of taxons in the main branches of life: Viruses (480) Archaea (330) Bacteria (16419) Eukaryotes (17695)
There are 48 OMIM entries identified in this superfamily
| FunFam code | Name | Last common ancestor | Total sequences | Specific GO terms assigned |
|---|---|---|---|---|
| FF_2.60.40.10_120202 | Platelet-derived growth factor receptor alpha -like domain 3 | Euteleostomi | 68 | platelet-derived growth factor alpha-receptor activity, vascular endothelial growth factor-activated receptor activity, |
| FF_2.60.40.10_96328 | Fn1 protein -like domain | Danio | 4 | integrin binding, |
| FF_2.60.40.10_121857 | Platelet endothelial cell adhesion molecule -like domain | Opisthokonta | 14 | metallopeptidase activity, |
| FF_2.60.40.10_121647 | Mid1 protein -like domain | Bacteria/Eukaryota | 1585 | transmembrane receptor protein tyrosine phosphatase activity, transmembrane receptor protein tyrosine kinase activity, ligase activity, exo-poly-alpha-galacturonosidase activity, serine-type endopeptidase inhibitor activity, |
| FF_2.60.40.10_115729 | Uncharacterized protein -like domain | Mus | 7 | molecular_function, |
| FF_2.60.40.10_42125 | Protein HIDE1 -like domain | Homo | 1 | |
| FF_2.60.40.10_117573 | Embigin -like domain | Euarchontoglires | 46 | |
| FF_2.60.40.10_121400 | L1 cell adhesion molecule -like domain | Bilateria | 8374 | hydrolase activity, vascular endothelial growth factor-activated receptor activity, netrin receptor activity, axon guidance receptor activity, serine-type endopeptidase inhibitor activity, |
| FF_2.60.40.10_115840 | Interleukin-6 receptor subunit alpha -like domain | Eutheria | 47 | interleukin-6 receptor activity, |
| FF_2.60.40.10_121182 | Receptor-type tyrosine-protein kinase FLT3 -like domain 2 | Euteleostomi | 62 | vascular endothelial growth factor-activated receptor activity, |
| FF_2.60.40.10_121716 | Stretchin-MLCK -like domain | Bilateria | 27 | myosin light chain kinase activity, calmodulin-dependent protein kinase activity, |
| FF_2.60.40.10_5138 | Prostaglandin F2 receptor negative regulator -like domain | Euarchontoglires | 35 | protein binding, |
| FF_2.60.40.10_119340 | Chitinase A -like domain | Alphabaculovirus | 228 | chitinase activity, |
| FF_2.60.40.10_58899 | Putative endo-alpha-N-acetylgalactosaminidase -like domain | Renibacterium salmoninarum | 1 | mucinaminylserine mucinaminidase activity, glycopeptide alpha-N-acetylgalactosaminidase activity, |
| FF_2.60.40.10_27855 | CD83 antigen -like domain | Mus | 2 | |
| FF_2.60.40.10_61514 | VEGF-receptor B -like domain | melanogaster subgroup | 19 | transmembrane receptor protein tyrosine kinase activity, |
| FF_2.60.40.10_111248 | Prostaglandin F2 receptor negative regulator -like domain | Murinae | 5 | protein binding, |
| FF_2.60.40.10_70432 | Probable secreted alpha-galactosidase -like domain | Streptomyces | 3 | alpha-galactosidase activity, |
| FF_2.60.40.10_72520 | Ptp52F -like domain | melanogaster subgroup | 6 | protein tyrosine phosphatase activity, |
| FF_2.60.40.10_121407 | Cyclomaltodextrin glucanotransferase -like domain | Bacteria/Eukaryota | 73 | cyclomaltodextrin glucanotransferase activity, glucan 1,4-alpha-maltohydrolase activity, |
| FF_2.60.40.10_121720 | Fibroblast growth factor receptor 1 -like domain 1 | Bilateria | 144 | transmembrane receptor protein tyrosine kinase activity, |
| FF_2.60.40.10_119905 | Uncharacterized protein At3g05975.1 -like domain | Arabidopsis | 2 | |
| FF_2.60.40.10_60899 | Tiger protein B1 -like domain | Dictyostelium | 24 | |
| FF_2.60.40.10_47128 | Anthrax toxin receptor-like -like domain | Homo | 2 | metal ion binding, |
| FF_2.60.40.10_121910 | Leptin receptor -like domain | Eutheria | 61 | transmembrane signaling receptor activity, |
| FF_2.60.40.10_121102 | Nuclear transcription factor RelA -like domain | Amniota | 1827 | transcription coactivator activity, sequence-specific distal enhancer binding RNA polymerase II transcription factor activity, |
| FF_2.60.40.10_111148 | Protein tyrosine kinase 7 long isoform -like domain | Danio | 1 | |
| FF_2.60.40.10_120352 | Sialoadhesin -like domain | Eutheria | 491 | receptor activity, |
| FF_2.60.40.10_55351 | Tyrosine-protein phosphatase 69D -like domain | melanogaster subgroup | 6 | protein tyrosine phosphatase activity, receptor activity, |
| FF_2.60.40.10_120217 | Vascular endothelial growth factor receptor 1 -like domain | Euteleostomi | 1477 | vascular endothelial growth factor-activated receptor activity, |
| FF_2.60.40.10_87910 | Uncharacterized protein -like domain | Mus | 15 | molecular_function, |
| FF_2.60.40.10_1785 | Prostaglandin F2 receptor negative regulator -like domain | Euarchontoglires | 54 | protein binding, |
| FF_2.60.40.10_121029 | Amylopullulanase -like domain | Firmicutes | 435 | glucan 1,4-alpha-maltohydrolase activity, neopullulanase activity, cyclomaltodextrinase activity, |
| FF_2.60.40.10_121180 | Interleukin-1 receptor accessory protein -like domain | Euteleostomi | 190 | interleukin-1 receptor activity, |
| FF_2.60.40.10_88041 | Fibronectin 1b -like domain | Danio | 5 | |
| FF_2.60.40.10_121982 | Pregnancy-specific protein -like domain 1/2 | Viruses/Bacteria/Eukaryota | 1656 | Rac guanyl-nucleotide exchange factor activity, structural constituent of cytoskeleton, laminin receptor activity, structural constituent of muscle, protein serine/threonine kinase activity, transmembrane receptor protein tyrosine kinase activity, chemorepellent activity, galactose oxidase activity, ciliary neurotrophic factor receptor activity, |
| FF_2.60.40.10_121952 | Cellulose-binding protein A -like domain 1/2/3/4 | Bacteria/Eukaryota | 370 | cellulose 1,4-beta-cellobiosidase activity, cellulase activity, |
| FF_2.60.40.10_122024 | Platelet-derived growth factor receptor alpha -like domain 2 | Euteleostomi | 928 | receptor signaling protein tyrosine kinase activity, stem cell factor receptor activity, vascular endothelial growth factor-activated receptor activity, macrophage colony-stimulating factor receptor activity, platelet-derived growth factor beta-receptor activity, |
| FF_2.60.40.10_121983 | Platelet-derived growth factor receptor beta -like domain | Eukaryota | 184 | platelet-derived growth factor beta-receptor activity, |
| FF_2.60.40.10_121980 | Crfb6 protein -like domain | Coelomata | 293 | protein tyrosine phosphatase activity, |
| FF_2.60.40.10_120919 | Cd28 -like domain | Amniota | 194 | coreceptor activity, |
| FF_2.60.40.10_112516 | Alpha-1B-glycoprotein -like domain | Sus | 1 | |
| FF_2.60.40.10_121632 | 1,4-alpha-glucan branching enzyme -like domain | Bacteria/Archaea/Eukaryota | 3148 | 1,4-alpha-glucan branching enzyme activity, |
| FF_2.60.40.10_60598 | Dynein alpha chain, flagellar outer arm -like domain | Chlamydomonas | 2 | motor activity, |
| FF_2.60.40.10_121822 | Interleukin-12 subunit beta -like domain | Euteleostomi | 171 | semaphorin receptor activity, |
| FF_2.60.40.10_121824 | Receptor-type tyrosine-protein kinase FLT3 -like domain 1 | Eutheria | 54 | vascular endothelial growth factor-activated receptor activity, |
| FF_2.60.40.10_120990 | Fibroblast growth factor receptor homolog 1 -like domain | melanogaster subgroup | 12 | fibroblast growth factor-activated receptor activity, |
| FF_2.60.40.10_121826 | Enterochelin esterase -like domain | Bacteria/Eukaryota | 190 | enterochelin esterase activity, |
| FF_2.60.40.10_120345 | Pullulanase -like domain | Bacteria/Eukaryota | 31 | pullulanase activity, |
| FF_2.60.40.10_121344 | Hemicentin1 protein -like domain | Coelomata | 608 | transmembrane receptor protein tyrosine kinase activity, |
| FF_2.60.40.10_121031 | Ciliary neurotrophic factor receptor subunit alpha -like domain | Amniota | 98 | ciliary neurotrophic factor receptor activity, |
| FF_2.60.40.10_51539 | Fibrocystin -like domain | Homo | 15 | receptor activity, |
| FF_2.60.40.10_10061 | AT4g23610/F9D16_80 -like domain | Arabidopsis | 1 | |
| FF_2.60.40.10_120465 | Hemocyte protein-glutamine -like domain 1 | Coelomata | 886 | protein-glutamine gamma-glutamyltransferase activity, structural constituent of cytoskeleton, |
| FF_2.60.40.10_121421 | Follistatin-related protein 5 -like domain | Coelomata | 174 | myosin light chain kinase activity, calmodulin-dependent protein kinase activity, |
| FF_2.60.40.10_77691 | Uncharacterized protein YEL043W -like domain | Saccharomyces cerevisiae | 7 | protein binding, |
| FF_2.60.40.10_4707 | Uncharacterized protein MJ1138 -like domain | Methanocaldococcus jannaschii | 2 | |
| FF_2.60.40.10_120709 | Tenascin-X -like domain | Euteleostomi | 3038 | extracellular matrix structural constituent, |
| FF_2.60.40.10_84074 | Myomesin-3 -like domain | Mus | 2 | molecular_function, |
| FF_2.60.40.10_114598 | Immunoglobulin superfamily member 6 -like domain | Euarchontoglires | 14 | transmembrane signaling receptor activity, |
| FF_2.60.40.10_106617 | Zgc:158361 protein -like domain | Danio | 1 | molecular_function, |
| FF_2.60.40.10_119173 | Receptor protein tyrosine phosphatase -like domain | Drosophila | 25 | protein tyrosine phosphatase activity, |
| FF_2.60.40.10_115288 | Tenascin-N -like domain | Euarchontoglires | 25 | integrin binding, identical protein binding, |
| FF_2.60.40.10_28078 | Tyrosine-protein phosphatase 2 -like domain | Caenorhabditis | 6 | protein tyrosine phosphatase activity, |
| FF_2.60.40.10_14311 | Phytanoyl-CoA hydroxylase-interacting protein-like -like domain | Amniota | 60 | molecular_function, |
| FF_2.60.40.10_121856 | Tenascin-X -like domain | Bilateria | 44 | extracellular matrix structural constituent, |
| FF_2.60.40.10_121516 | Platelet-derived growth factor receptor alpha -like domain 1 | Amniota | 992 | stem cell factor receptor activity, vascular endothelial growth factor-activated receptor activity, macrophage colony-stimulating factor receptor activity, platelet-derived growth factor beta-receptor activity, |
| FF_2.60.40.10_121867 | Ig-like V-type domain-containing protein FAM187A -like domain | Bilateria | 68 | axon guidance receptor activity, |
| FF_2.60.40.10_120287 | Aggrecan core protein -like domain 1/2 | Euteleostomi | 906 | extracellular matrix structural constituent, |
| FF_2.60.40.10_121627 | Cell adhesion molecule 1 -like domain | Bilateria | 6547 | laminin receptor activity, stem cell factor receptor activity, viral receptor activity, advanced glycation end-product receptor activity, macrophage colony-stimulating factor receptor activity, coreceptor activity, |
| FF_2.60.40.10_121749 | CD80 protein -like domain | Bilateria | 1843 | transmembrane receptor protein tyrosine phosphatase activity, transmembrane receptor protein tyrosine kinase activity, |
| FF_2.60.40.10_111979 | Highly immunogenic outer capsid protein -like domain | Enterobacteria phage T4 sensu lato | 2 | |
| FF_2.60.40.10_121744 | Thy-1 protein -like domain | Euteleostomi | 94 | Rho GTPase activator activity, |
| FF_2.60.40.10_121745 | Fibronection fn1 -like domain | Coelomata | 54 | insulin-activated receptor activity, |
| FF_2.60.40.10_121423 | Obscurin -like domain | Bilateria | 474 | protein serine/threonine kinase activity, |
| FF_2.60.40.10_116253 | Stretchin-Mlck, isoform A -like domain | melanogaster subgroup | 20 | myosin light chain kinase activity, calmodulin-dependent protein kinase activity, |
| FF_2.60.40.10_121514 | Interleukin-1 receptor accessory protein -like domain | Euteleostomi | 738 | interleukin-1, Type I, activating receptor activity, interleukin-33 receptor activity, |
| FF_2.60.40.10_117343 | Activating transcription factor 7-interacting -like domain | Euteleostomi | 72 | transcription corepressor activity, ATPase activity, |
| FF_2.60.40.10_113001 | Interleukin-11 receptor subunit alpha -like domain | Eutheria | 63 | interleukin-11 receptor activity, |
| FF_2.60.40.10_121357 | Tyrosine-protein phosphatase 10D -like domain | Coelomata | 59 | protein tyrosine phosphatase activity, |
| FF_2.60.40.10_121161 | Down syndrome cell adhesion molecule -like domain | Coelomata | 211 | axon guidance receptor activity, |
| FF_2.60.40.10_121014 | Lipid-anchored plasma membrane glycoprotein 130 -like domain | Dictyostelium | 2 | |
| FF_2.60.40.10_115285 | Macrophage-stimulating protein receptor -like domain | Euarchontoglires | 46 | macrophage colony-stimulating factor receptor activity, |
| FF_2.60.40.10_121695 | Titin -like domain 1 | Bilateria | 19843 | myosin light chain kinase activity, metalloendopeptidase activity, calmodulin-dependent protein kinase activity, lipoprotein lipase activity, structural constituent of muscle, structural constituent of cytoskeleton, fibroblast growth factor-activated receptor activity, ATPase activator activity, |
| FF_2.60.40.10_120808 | Hspg2 protein -like domain | Bilateria | 7630 | lipoprotein lipase activity, structural constituent of muscle, laminin receptor activity, |
| FF_2.60.40.10_12859 | CD83 antigen -like domain | Homo | 8 | |
| FF_2.60.40.10_120562 | Endoglucanase D -like domain | Bacteria | 43 | cellulose 1,4-beta-cellobiosidase activity, cellulase activity, |
| FF_2.60.40.10_121216 | Probable serine/threonine-protein kinase -like domain | Dictyostelium | 4 | protein serine/threonine kinase activity, |
| FF_2.60.40.10_121594 | Fibrocystin-L -like domain | Eukaryota | 267 | receptor activity, |
| FF_2.60.40.10_121751 | Hemocyte protein-glutamine -like domain 2/3 | Opisthokonta | 1796 | protein-glutamine gamma-glutamyltransferase activity, structural constituent of cytoskeleton, |
| FF_2.60.40.10_121945 | Hepatocyte growth factor receptor -like domain 1/2/3 | Eukaryota | 5957 | hepatocyte growth factor-activated receptor activity, macrophage colony-stimulating factor receptor activity, semaphorin receptor activity, |
| FF_2.60.40.10_122008 | Leukocyte surface antigen CD47 -like domain | Viruses/Bacteria/Eukaryota | 530 | thrombospondin receptor activity, |
| FF_2.60.40.10_24218 | Zgc:113255 -like domain | Danio | 2 | molecular_function, |
| FF_2.60.40.10_121847 | Fibroblast growth factor receptor 1 -like domain 2 | Bilateria | 2 | transmembrane receptor protein tyrosine kinase activity, |
| FF_2.60.40.10_121854 | Interleukin-10 receptor subunit alpha -like domain | Bilateria | 64 | interleukin-10 receptor activity, |
| FF_2.60.40.10_107692 | V-set and immunoglobulin domain-containing protein -like domain | Homo | 2 | |
| FF_2.60.40.10_121961 | Interferon alpha/beta receptor 2 -like domain | Eukaryota | 141 | cellulase activity, type I interferon receptor activity, |
| FF_2.60.40.10_121962 | Tyrosine-protein kinase receptor Tie-1 -like domain | Bacteria/Eukaryota | 292 | transmembrane receptor protein tyrosine kinase activity, |
| FF_2.60.40.10_104073 | Protein FAM55A -like domain | Homo | 25 | |
| FF_2.60.40.10_121966 | Titin -like domain 2/3 | Bilateria | 30523 | interleukin-11 receptor activity, interleukin-6 receptor activity, myosin light chain kinase activity, interleukin-33 receptor activity, vascular endothelial growth factor-activated receptor activity, epidermal growth factor-activated receptor activity, structural constituent of muscle, netrin receptor activity, transmembrane receptor protein tyrosine phosphatase activity, interleukin-1, Type I, activating receptor activity, structural constituent of cytoskeleton, axon guidance receptor activity, fibroblast growth factor-activated receptor activity, serine-type endopeptidase inhibitor activity, coreceptor activity, peroxidase activity, platelet activating factor receptor activity, ATPase activator activity, |
| FF_2.60.40.10_121873 | Carcinoembryonic antigen-related cell adhesion -like domain | Bilateria | 259 | structural constituent of muscle, structural constituent of cytoskeleton, |
| FF_2.60.40.10_121753 | Cytokine receptor -like domain | Coelomata | 10 | protein tyrosine phosphatase activity, transmembrane signaling receptor activity, |
| FF_2.60.40.10_42152 | Receptor protein tyrosine phosphatase -like domain | Sophophora | 11 | protein tyrosine phosphatase activity, |
| FF_2.60.40.10_120669 | Vsig2 protein -like domain | Gnathostomata | 4678 | coreceptor activity, voltage-gated sodium channel activity, viral receptor activity, structural molecule activity, |
| FF_2.60.40.10_121755 | Receptor-type tyrosine-protein phosphatase O -like domain | Coelomata | 85 | transmembrane receptor protein tyrosine phosphatase activity, |
| FF_2.60.40.10_121754 | Glucans biosynthesis protein G -like domain | Bacteria/Eukaryota | 690 | protein homodimerization activity, |
| FF_2.60.40.10_63723 | FLN-2 protein, isoform d -like domain | Caenorhabditis | 9 | |
| FF_2.60.40.10_121178 | Nodal modulator 2 -like domain | Bacteria/Eukaryota | 47 | serine-type endopeptidase activity, |
| FF_2.60.40.10_21632 | Putative epidermal cell surface receptor -like domain | melanogaster subgroup | 5 | receptor activity, |
| FF_2.60.40.10_121504 | Ig alpha chain C region -like domain 1/2/3 | Euteleostomi | 15701 | MHC class I receptor activity, IgG receptor activity, MHC class II receptor activity, peptide antigen-transporting ATPase activity, |
| FF_2.60.40.10_85901 | Down syndrome cell adhesion molecule-like protein -like domain | melanogaster subgroup | 19 | molecular_function, |
| FF_2.60.40.10_120956 | IPT/TIG domain-containing protein -like domain | Dictyostelium | 3 | |
| FF_2.60.40.10_5271 | Late embryogenesis abundant protein, group 2 -like domain 1 | Arabidopsis | 3 | |
| FF_2.60.40.10_101296 | Pyrogallol hydroxytransferase small subunit -like domain | Pelobacter | 1 | pyrogallol hydroxytransferase activity, |
| FF_2.60.40.10_122016 | Intercellular adhesion molecule -like domain | Viruses/Bacteria/Eukaryota | 69 | glucan 1,4-alpha-maltohydrolase activity, interleukin-10 receptor activity, interleukin-22 receptor activity, protein tyrosine/serine/threonine phosphatase activity, phosphoglucan, water dikinase activity, viral receptor activity, protein tyrosine phosphatase activity, beta-amylase activity, endoribonuclease activity, transmembrane receptor protein tyrosine kinase activity, 4-alpha-glucanotransferase activity, peroxidase activity, glucan 1,4-alpha-maltotetraohydrolase activity, alpha-amylase activity, axon guidance receptor activity, glycerophosphocholine phosphodiesterase activity, interferon-gamma receptor activity, cyclomaltodextrin glucanotransferase activity, coreceptor activity, glucan 1,4-alpha-glucosidase activity, type I interferon receptor activity, |
| FF_2.60.40.10_118780 | Basigin -like domain | Euteleostomi | 205 | lactate transmembrane transporter activity, |
| FF_2.60.40.10_122018 | Intercellular adhesion molecule -like domain | Viruses/Bacteria/Eukaryota | 581 | transmembrane receptor protein tyrosine kinase activity, |
| FF_2.60.40.10_121878 | Single Ig IL-1-related receptor -like domain | Coelomata | 56 | fibroblast growth factor-activated receptor activity, |
| FF_2.60.40.10_117438 | Lymphocyte activation gene 3 protein -like domain | Euarchontoglires | 18 | transmembrane signaling receptor activity, |
| FF_2.60.40.10_94016 | Peptidase S8 and S53 subtilisin kexin sedolisin -like domain | Chloroflexus | 1 | serine-type endopeptidase activity, |
| FF_2.60.40.10_119948 | Platelet-derived growth factor receptor beta -like domain | Euteleostomi | 87 | platelet-derived growth factor beta-receptor activity, |
| FF_2.60.40.10_121723 | CD22 protein -like domain | Coelomata | 1082 | coreceptor activity, |
| FF_2.60.40.10_31607 | Granulocyte stimulating factor receptor -like domain | Danio | 1 | |
| FF_2.60.40.10_9327 | Mucosal addressin cell adhesion molecule 1 -like domain | Rattus | 1 | molecular_function, |
| FF_2.60.40.10_121877 | Neurofascin -like domain | Bilateria | 110 | protein tyrosine phosphatase activity, |
| FF_2.60.40.10_9323 | Insulin-like receptor -like domain | melanogaster subgroup | 40 | insulin-activated receptor activity, |
| FF_2.60.40.10_9322 | Mucosal addressin cell adhesion molecule 1 -like domain | Mus | 4 | |
| FF_2.60.40.10_121566 | Fibronectin -like domain | Coelomata | 774 | peptidase activator activity, extracellular matrix structural constituent, serine-type endopeptidase inhibitor activity, |
| FF_2.60.40.10_121977 | Interleukin-18 receptor 1 -like domain | Eukaryota | 140 | G-protein coupled adenosine receptor activity, |
| FF_2.60.40.10_120886 | Receptor-type tyrosine-protein phosphatase beta -like domain | Euteleostomi | 1279 | transmembrane receptor protein tyrosine phosphatase activity, |
| FF_2.60.40.10_112540 | P50 killer cell activating receptor KAR-K1d -like domain | Homo | 2 | HLA-C specific inhibitory MHC class I receptor activity, |
| FF_2.60.40.10_121979 | T-cell surface glycoprotein CD4 -like domain | Coelomata | 347 | metalloendopeptidase inhibitor activity, netrin receptor activity, |
| FF_2.60.40.10_121569 | MKIAA0756 protein -like domain | Bilateria | 2263 | advanced glycation end-product receptor activity, transmembrane signaling receptor activity, |
| FF_2.60.40.10_121771 | Sialidase -like domain | Bacteria/Eukaryota | 6 | exo-alpha-(2->6)-sialidase activity, exo-alpha-(2->3)-sialidase activity, exo-alpha-(2->8)-sialidase activity, |
| FF_2.60.40.10_121770 | T-cell receptor delta chain C region -like domain | Opisthokonta | 52 | receptor activity, |
| FF_2.60.40.10_121772 | Platelet endothelial cell adhesion molecule -like domain | Bacteria/Eukaryota | 116 | structural molecule activity, |
| FF_2.60.40.10_121775 | Immunoglobulin superfamily member 21 -like domain | Euteleostomi | 66 | protein binding, |
| FF_2.60.40.10_121776 | Ig heavy chain V region -like domain 1/2/3/4 | Coelomata | 18462 | high affinity IgE receptor activity, cellulase activity, interleukin-33 receptor activity, vascular endothelial growth factor-activated receptor activity, stem cell factor receptor activity, receptor signaling protein tyrosine kinase activity, advanced glycation end-product receptor activity, interleukin-1, Type I, activating receptor activity, cysteine-type endopeptidase activity, opioid receptor activity, voltage-gated sodium channel activity, coreceptor activity, IgG receptor activity, |
| FF_2.60.40.10_3442 | Late embryogenesis abundant protein, group 2 -like domain 2 | Arabidopsis | 3 | |
| FF_2.60.40.10_115658 | Platelet-derived growth factor receptor-like -like domain | Euteleostomi | 46 | platelet-derived growth factor beta-receptor activity, platelet activating factor receptor activity, |
| FF_2.60.40.10_121928 | Pappalysin-1 -like domain | Eukaryota | 85 | metallopeptidase activity, |
| FF_2.60.40.10_121271 | Lys-gingipain HG66 -like domain | Porphyromonas | 17 | cysteine-type peptidase activity, |
| FF_2.60.40.10_121778 | Interleukin-13 receptor subunit alpha-2 -like domain | Eutheria | 839 | interleukin-5 receptor activity, leukemia inhibitory factor receptor activity, interleukin-13 receptor activity, |
| FF_2.60.40.10_121605 | NT-3 growth factor receptor -like domain | Coelomata | 882 | brain-derived neurotrophic factor-activated receptor activity, |
| FF_2.60.40.10_121890 | Sortilin-related receptor -like domain | Bilateria | 169 | interleukin-4 receptor activity, |
| FF_2.60.40.10_121891 | RIMS-binding protein 2 -like domain | Bacteria/Eukaryota | 1060 | transmembrane receptor protein tyrosine phosphatase activity, |
| FF_2.60.40.10_121894 | CBR-LIN-41 protein -like domain | Bilateria | 60 | metal ion binding, |
| FF_2.60.40.10_121895 | Immunoglobulin superfamily member 3 -like domain | Bilateria | 48 | protein tyrosine phosphatase activity, |
| FF_2.60.40.10_120943 | Glycogen debranching enzyme -like domain | Bacteria/Eukaryota | 1351 | isoamylase activity, |
| FF_2.60.40.10_121964 | Ifnar2 protein -like domain | Bilateria | 446 | transmembrane receptor protein tyrosine kinase activity, type I interferon receptor activity, |
| FF_2.60.40.10_116832 | Desiccation-related protein At2g46140 -like domain | core eudicotyledons | 11 | molecular_function, |
| FF_2.60.40.10_116768 | Protein FAM55D -like domain | Euarchontoglires | 43 | molecular_function, |
| FF_2.60.40.10_121865 | 36 kDa major membrane protein -like domain | Orthopoxvirus | 65 | G-protein coupled receptor activity, |
| FF_2.60.40.10_69443 | Probable serine/threonine-protein kinase drkC -like domain | Dictyostelium | 1 | protein serine/threonine kinase activity, protein tyrosine kinase activity, |
| FF_2.60.40.10_121830 | Plexin-A3 -like domain | Eukaryota | 307 | semaphorin receptor activity, |
| FF_2.60.40.10_121948 | MYBPC1 protein -like domain | Bacteria/Eukaryota | 1413 | Wnt-activated receptor activity, G-protein coupled receptor activity, myosin light chain kinase activity, calmodulin-dependent protein kinase activity, protein tyrosine phosphatase activity, structural constituent of cytoskeleton, brain-derived neurotrophic factor-activated receptor activity, receptor signaling protein tyrosine kinase activity, structural constituent of muscle, alpha-galactosidase activity, vascular endothelial growth factor-activated receptor activity, ATPase activator activity, |
| FF_2.60.40.10_121949 | Interleukin-12 subunit beta -like domain | Bilateria | 104 | transmembrane receptor protein tyrosine kinase activity, |
| FF_2.60.40.10_9319 | Mucosal addressin cell adhesion molecule 1 -like domain | Homo | 25 | |
| FF_2.60.40.10_121673 | MFLJ00343 protein -like domain 1/2/3/4/5/6/7/8/9/10/11/12/13/14/15/16/17/18/19/20/21/22/23/24 | Eukaryota | 13137 | ubiquitin-protein ligase activity, motor activity, signal transducer activity, |
| FF_2.60.40.10_121869 | Interference hedgehog -like domain | Bilateria | 141 | lactate transmembrane transporter activity, |
| FF_2.60.40.10_100200 | Prostaglandin F2 receptor negative regulator -like domain | Homo | 14 | protein binding, |
| FF_2.60.40.10_120719 | Malto-oligosyltrehalose trehalohydrolase -like domain | Bacteria/Archaea | 340 | 4-alpha-D-\{(1->4)-alpha-D-glucano}trehalose trehalohydrolase activity, |
| FF_2.60.40.10_17332 | Putative uncharacterized protein 5NT -like domain | Dictyostelium | 1 | |
| FF_2.60.40.10_100565 | Cell surface glycoprotein gp138B -like domain | Dictyostelium | 2 | |
| FF_2.60.40.10_100564 | Protein FAM55C -like domain | Eutheria | 37 | molecular_function, |
| FF_2.60.40.10_114957 | Receptor-type tyrosine-protein phosphatase V -like domain | Murinae | 5 | protein tyrosine phosphatase activity, |
| FF_2.60.40.10_118133 | Immunoglobulin superfamily member 5 -like domain | Euarchontoglires | 14 | PDZ domain binding, |
| FF_2.60.40.10_72349 | CD86 antigen -like domain | Mus | 8 | receptor activity, |
| FF_2.60.40.10_121309 | Btn1a1 protein -like domain 1/2 | Coelomata | 4184 | coreceptor activity, |
| FF_2.60.40.10_121880 | T-cell surface glycoprotein CD4 -like domain | Coelomata | 544 | laminin receptor activity, |
| FF_2.60.40.10_120934 | Immunoglobulin superfamily member 1 -like domain 1/2/3/4/5/6/7/8/9/10/11/12 | Euteleostomi | 7680 | metalloendopeptidase inhibitor activity, HLA-C specific inhibitory MHC class I receptor activity, coreceptor activity, HLA-B specific inhibitory MHC class I receptor activity, |
| FF_2.60.40.10_89522 | Fibronectin -like domain | Xenopus | 5 | heparin binding, |
| FF_2.60.40.10_15717 | Phytanoyl-CoA hydroxylase-interacting protein -like domain | Mus | 34 | protein binding, |
| FF_2.60.40.10_70413 | Late embryogenesis abundant hydroxyproline-rich -like domain | Arabidopsis | 2 | |
| FF_2.60.40.10_89431 | Fibronectin -like domain | Eutheria | 137 | peptidase activator activity, extracellular matrix structural constituent, |
| FF_2.60.40.10_117653 | Transmembrane protein 106C -like domain | Eutheria | 6 | molecular_function, |
| FF_2.60.40.10_121700 | Prolactin receptor -like domain | Eukaryota | 2373 | leukemia inhibitory factor receptor activity, prolactin receptor activity, oncostatin-M receptor activity, interleukin-3 receptor activity, protein tyrosine phosphatase activity, transcription coactivator activity, insulin-activated receptor activity, insulin-like growth factor-activated receptor activity, interleukin-12 receptor activity, serine-type endopeptidase inhibitor activity, growth hormone receptor activity, erythropoietin receptor activity, |
| FF_2.60.40.10_121703 | Receptor-type tyrosine-protein phosphatase O -like domain | Coelomata | 84 | transmembrane receptor protein tyrosine phosphatase activity, |
| FF_2.60.40.10_120660 | Calmodulin-binding transcription activator 1 -like domain | Eukaryota | 178 | calmodulin binding, DNA binding, |
| FF_2.60.40.10_121451 | Receptor-type tyrosine-protein phosphatase C -like domain | Eutheria | 138 | transmembrane receptor protein tyrosine phosphatase activity, |
| FF_2.60.40.10_121581 | Fibrocystin-L -like domain | Eukaryota | 425 | receptor activity, |
| FF_2.60.40.10_121853 | Interleukin-3 receptor subunit alpha -like domain | Homo | 19 | interleukin-3 receptor activity, |
| FF_2.60.40.10_66528 | GH03118p -like domain | Sophophora | 15 | |
| FF_2.60.40.10_121120 | Receptor-type tyrosine-protein phosphatase T -like domain | Euteleostomi | 676 | transmembrane receptor protein tyrosine phosphatase activity, |
| FF_2.60.40.10_115939 | Suppressor of hairless protein -like domain | Coelomata | 232 | RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription, |
| FF_2.60.40.10_120547 | Hepatitis A virus cellular receptor 2 -like domain | Euteleostomi | 1784 | transmembrane signaling receptor activity, |
| FF_2.60.40.10_121007 | E3 ubiquitin-protein ligase highwire -like domain | Bilateria | 99 | ubiquitin-protein ligase activity, |
| FF_2.60.40.10_121792 | Interleukin-13 receptor subunit alpha-2 -like domain | Eutheria | 55 | cytokine receptor activity, |
| FF_2.60.40.10_120844 | Down syndrome cell adhesion molecule -like domain | melanogaster subgroup | 1474 | macrophage colony-stimulating factor receptor activity, axon guidance receptor activity, |
| FF_2.60.40.10_72404 | Insulin-like receptor -like domain | Stegomyia | 2 | insulin-activated receptor activity, |
| FF_2.60.40.10_113164 | Phytanoyl-CoA hydroxylase-interacting protein-like -like domain | Danio | 9 | molecular_function, |
| FF_2.60.40.10_27845 | Probable membrane glycoprotein -like domain | Epstein-Barr virus (strain GD1) | 3 | |
| FF_2.60.40.10_121859 | Endoglucanase B -like domain | Bacteria/Eukaryota | 56 | cellulase activity, |
| FF_2.60.40.10_120381 | Lipoprotein, putative -like domain | Gammaproteobacteria | 39 | molecular_function, |
| FF_2.60.40.10_121093 | Platelet-derived growth factor receptor alpha -like domain 4 | Euteleostomi | 1005 | structural constituent of cytoskeleton, stem cell factor receptor activity, protein serine/threonine kinase activity, structural constituent of muscle, macrophage colony-stimulating factor receptor activity, platelet-derived growth factor beta-receptor activity, ATPase activator activity, |
| FF_2.60.40.10_113998 | Tiger protein E1 -like domain | Dictyostelium | 33 | |
| FF_2.60.40.10_121899 | Hemicentin1 protein -like domain 1/2 | Bilateria | 23618 | myosin light chain kinase activity, structural constituent of muscle, netrin receptor activity, transmembrane receptor protein tyrosine phosphatase activity, lipoprotein lipase activity, transmembrane receptor protein tyrosine kinase activity, structural constituent of cytoskeleton, axon guidance receptor activity, opioid receptor activity, peroxidase activity, |
| FF_2.60.40.10_25549 | Protein UL141 -like domain | Human cytomegalovirus | 18 | |
| FF_2.60.40.10_121717 | Colossin-A -like domain 1/2/3/4/5/6/7/8/9/10/11/12/13/14/15/16/17/18/19/20/21/22/23/24/25/26/27/28/29/30/31/32/33/34/35/36/37/38/39/40/41/42/43/44/45/46/47/48/49/50/51/52/53/54/55/56/57/58/59/60/61/62/63/64/65/66/67/68/69/70/71/72/73/74/75/76/77/78/79/80/81/82/83/84/85/86/87/88/89/90/91/92/93 | Bacteria/Eukaryota | 4125 | metal ion binding, protein binding, |
| FF_2.60.40.10_120786 | Down syndrome cell adhesion molecule -like domain | Bilateria | 1919 | axon guidance receptor activity, |
| FF_2.60.40.10_48490 | Alpha-mannosidase -like domain | Mycobacterium tuberculosis complex | 20 | alpha-mannosidase activity, |
| FF_2.60.40.10_121712 | VEGF-receptor B -like domain | Coelomata | 27 | transmembrane receptor protein tyrosine kinase activity, |
| FF_2.60.40.10_39163 | Cell surface glycoprotein gp138A -like domain | Dictyostelium | 5 | |
| FF_2.60.40.10_121392 | Nitr9 -like domain | Danio | 694 | protein binding, |
| FF_2.60.40.10_121718 | Crlf1b protein -like domain | Bilateria | 966 | interleukin-27 receptor activity, ciliary neurotrophic factor receptor activity, |
| OMIM code | Description | Sequences |
|---|---|---|
| 613121 | CARDIOMYOPATHY - DILATED - 1CC NEXN - PRO611THR CARDIOMYOPATHY - DILATED - 1CC NEXN - TYR652CYS |
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| 601604 | MYCOBACTERIAL AND SALMONELLA INFECTIONS - SUSCEPTIBILITY TO IL12RB1 - ARG213TRP MYCOBACTERIAL INFECTIONS - SUSCEPTIBILITY TO IL12RB1 - CYS198ARG |
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| 173445 | PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1 POLYMORPHISM PECAM1 - LEU125VAL |
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| 601743 | PRIMARY LOCALIZED CUTANEOUS AMYLOIDOSIS OSMR - ILE691THR |
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| 608400 | RETINITIS PIGMENTOSA 39 USH2A - ARG4674GLY |
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| 607761 | MENTAL RETARDATION - AUTOSOMAL DOMINANT 4 KIRREL3 - ARG336GLN |
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| 134934 | HYPOCHONDROPLASIA FGFR3 - SER84LEU THANATOPHORIC DYSPLASIA - TYPE I MULTIPLE MYELOMA - SOMATIC - INCLUDED;; SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS - INCLUDED;; NEVUS - EPIDERMAL - SOMATIC - INCLUDED;; KERATOSIS - SEBORRHEIC - SOMATIC - INCLUDED FGFR3 - ARG248CYS HYPOCHONDROPLASIA FGFR3 - TYR278CYS ACHONDROPLASIA HYPOCHONDROPLASIA - INCLUDED FGFR3 - SER279CYS COLORECTAL CANCER - SOMATIC FGFR3 - GLU322LYS |
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| 600985 | EHLERS-DANLOS SYNDROME - HYPERMOBILITY TYPE TNXB - VAL1195MET |
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| 308380 | SEVERE COMBINED IMMUNODEFICIENCY - X-LINKED IL2RG - GLY114ASP COMBINED IMMUNODEFICIENCY - X-LINKED IL2RG - ARG222CYS SEVERE COMBINED IMMUNODEFICIENCY - X-LINKED IL2RG - CYS115ARG |
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| 603805 | PEELING SKIN SYNDROME - ACRAL TYPE TGM5 - GLY113CYS |
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| 136350 | HYPOGONADOTROPIC HYPOGONADISM KALLMANN SYNDROME 2 - INCLUDED FGFR1 - GLY237SER OSTEOGLOPHONIC DYSPLASIA FGFR1 - ASN330ILE KALLMANN SYNDROME 2 FGFR1 - LEU342SER KALLMANN SYNDROME 2 FGFR1 - GLY48SER HYPOGONADOTROPIC HYPOGONADISM FGFR1 - ARG250GLN TRIGONOCEPHALY FGFR1 - ILE300THR KALLMANN SYNDROME 2 FGFR1 - ALA167SER |
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| 600997 | PROSTATE CANCER - PROGRESSION AND METASTASIS OF EPHB2 - ALA279SER |
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| 147569 | ATYPICAL MYCOBACTERIAL INFECTION - FAMILIAL DISSEMINATED IFNGR2 - THR168ASN |
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| 188840 | CARDIOMYOPATHY - DILATED - 1G TTN - SER4465ASN CARDIOMYOPATHY - DILATED - 1G TTN - VAL54MET TIBIAL MUSCULAR DYSTROPHY - TARDIVE TTN - LEU34315PRO |
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| 147370 | INSULIN-LIKE GROWTH FACTOR I - RESISTANCE TO IGF1R - ARG481GLN |
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| 600235 | CARDIAC CONDUCTION DEFECT - NONSPECIFIC SCN1B - GLU87GLN GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS SCN1B - CYS121TRP |
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| 147245 | AGAMMAGLOBULINEMIA 6 CD79B - GLY137SER |
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| 177070 | SPHEROCYTOSIS - TYPE 5 - DUE TO PROTEIN 4.2-TOZEUR EPB42 - ARG310GLN |
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| 176943 | CRANIOSYNOSTOSIS - NONSYNDROMIC UNICORONAL FGFR2 - ALA315SER CROUZON SYNDROME JACKSON-WEISS SYNDROME - INCLUDED FGFR2 - GLN289PRO CROUZON SYNDROME FGFR2 - LYS292GLU CROUZON SYNDROME FGFR2 - SER347CYS PFEIFFER SYNDROME FGFR2 - THR341PRO CROUZON SYNDROME JACKSON-WEISS SYNDROME - INCLUDED;; ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS - INCLUDED FGFR2 - CYS342SER PFEIFFER SYNDROME GASTRIC CANCER - SOMATIC - INCLUDED FGFR2 - SER267PRO JACKSON-WEISS SYNDROME CROUZON SYNDROME - INCLUDED FGFR2 - ALA344GLY CROUZON SYNDROME PFEIFFER SYNDROME - INCLUDED;; JACKSON-WEISS SYNDROME - INCLUDED;; ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS - INCLUDED FGFR2 - CYS342ARG PFEIFFER SYNDROME FGFR2 - ASP321ALA CROUZON SYNDROME FGFR2 - TYR340HIS CROUZON SYNDROME FGFR2 - TYR328CYS CROUZON SYNDROME PFEIFFER SYNDROME - INCLUDED FGFR2 - CYS342TYR PFEIFFER SYNDROME CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA - INCLUDED FGFR2 - TRP290CYS - 870G-T CROUZON SYNDROME FGFR2 - TRP290GLY PFEIFFER SYNDROME - TYPE III ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS - INCLUDED FGFR2 - SER351CYS CROUZON SYNDROME FGFR2 - SER354CYS PFEIFFER SYNDROME FGFR2 - TRP290CYS CROUZON SYNDROME FGFR2 - CYS342TRP CROUZON SYNDROME FGFR2 - TRP290ARG CROUZON SYNDROME CRANIOSYNOSTOSIS - NONCLASSIFIABLE AUTOSOMAL DOMINANT - INCLUDED;; SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY - INCLUDED FGFR2 - ALA344ALA |
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| 146740 | NEUTROPHIL-SPECIFIC ANTIGENS NA1/NA2 FCGR3A - ARG36SER - ASN65SER - ASP82ASN - VAL106ILE |
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| 603317 | DEAFNESS - AUTOSOMAL RECESSIVE 84; DFNB84 PTPRQ - ARG457GLY |
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| 600119 | MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2D SGCA - ARG77CYS MUSCULAR DYSTROPHY - LIMB-GIRDLE - TYPE 2D SGCA - ARG98HIS |
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| 600632 | OVARIAN CANCER - SOMATIC OPCML - PRO95ARG |
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| 603381 | ATELOSTEOGENESIS - TYPE III FLNB - GLY751ARG LARSEN SYNDROME - AUTOSOMAL DOMINANT FLNB - GLY1586ARG LARSEN SYNDROME - AUTOSOMAL DOMINANT FLNB - GLY1691SER |
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| 609607 | ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 PVRL4 - ARG284GLN ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 PVRL4 - THR185MET |
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| 306250 | SURFACTANT METABOLISM DYSFUNCTION - PULMONARY - 4 CSF2RA - GLY174ARG |
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| 147020 | AGAMMAGLOBULINEMIA 1 IGHM - CYS412GLY |
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| 604237 | CRISPONI SYNDROME CRLF1 - TRP76GLY COLD-INDUCED SWEATING SYNDROME 1 CRLF1 - ARG81HIS AND LEU374ARG |
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| 107470 | BCG INFECTION - TUBERCULOID - ANTIBIOTIC-RESPONSIVE MYCOBACTERIUM TUBERCULOSIS - SUSCEPTIBILITY TO INFECTION BY IFNGR1 - ILE87THR ATYPICAL MYCOBACTERIAL INFECTION - DISSEMINATED IFNGR1 - VAL61GLN ATYPICAL MYCOBACTERIAL INFECTION - DISSEMINATED FAMILIAL IFNGR1 - CYS77TYR |
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| 159440 | ROUSSY-LEVY SYNDROME MPZ - ASN131LYS CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B MPZ - TYR145SER CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B MPZ - LYS96GLU CHARCOT-MARIE-TOOTH DISEASE - TYPE 2I MPZ - ASP60HIS CHARCOT-MARIE-TOOTH DISEASE - TYPE 2I MPZ - ILE89ASN - VAL92MET - ILE162MET CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B - WITH FOCALLY FOLDED MYELIN SHEATHS MPZ - ILE62PHE CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B MPZ - SER63PHE CHARCOT-MARIE-TOOTH DISEASE - TYPE 2J CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B - INCLUDED MPZ - THR124MET CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B MPZ - GLY123SER DEJERINE-SOTTAS SYNDROME - AUTOSOMAL DOMINANT MPZ - SER63CYS CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B MPZ - HIS81ARG CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B MPZ - GLY137SER CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B MPZ - ARG98CYS CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B MPZ - VAL102VAL NEUROPATHY - CONGENITAL HYPOMYELINATING - AUTOSOMAL DOMINANT MPZ - THR124LYS CHARCOT-MARIE-TOOTH DISEASE - TYPE 2J MPZ - PRO105THR CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B MPZ - ARG98HIS CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B MPZ - ASP90GLU CHARCOT-MARIE-TOOTH DISEASE - TYPE 2J MPZ - ASP75VAL CHARCOT-MARIE-TOOTH DISEASE - TYPE 2J MPZ - GLU97VAL CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B MPZ - ILE135THR CHARCOT-MARIE-TOOTH DISEASE - TYPE 1B MPZ - ARG98PRO CHARCOT-MARIE-TOOTH DISEASE - TYPE 2I MPZ - ILE62MET CHARCOT-MARIE-TOOTH DISEASE - TYPE 2I MPZ - SER44PHE |
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| 146770 | AGAMMAGLOBULINEMIA 2 IGLL1 - PRO142LEU |
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| 186910 | CD8 DEFICIENCY - FAMILIAL CD8A - GLY90SER |
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| 602716 | NEPHROTIC SYNDROME - TYPE 1 NPHS1 - VAL822MET NEPHROTIC SYNDROME - TYPE 1 NPHS1 - GLU447LYS AND ASP819VAL NEPHROTIC SYNDROME - TYPE 1 NPHS1 - CYS265ARG |
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| 147557 | EPIDERMOLYSIS BULLOSA - JUNCTIONAL - WITH PYLORIC ATRESIA ITGB4 - ARG1225HIS EPIDERMOLYSIS BULLOSA - JUNCTIONAL - WITH PYLORIC ATRESIA ITGB4 - ARG1281TRP |
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| 146661 | SEVERE COMBINED IMMUNODEFICIENCY - AUTOSOMAL RECESSIVE - T CELL-NEGATIVE - B CELL-POSITIVE - NK CELL-POSITIVE IL7R - ILE138VAL SEVERE COMBINED IMMUNODEFICIENCY - AUTOSOMAL RECESSIVE - T CELL-NEGATIVE - B CELL-POSITIVE - NK CELL-POSITIVE IL7R - PRO132SER |
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| 605086 | POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY TREM2 - VAL126GLY |
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| 308840 | CRASH SYNDROME L1CAM - ILE179SER CRASH SYNDROME L1CAM - GLY370ARG HYDROCEPHALUS - X-LINKED L1CAM - GLY452ARG HYDROCEPHALUS - X-LINKED - WITH HIRSCHSPRUNG DISEASE L1CAM - VAL752MET HYDROCEPHALUS - X-LINKED L1CAM - ARG184GLN MASA SYNDROME L1CAM - HIS210GLN HYDROCEPHALUS - X-LINKED L1CAM - CYS264TYR MASA SYNDROME L1CAM - ASP598ASN |
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| 613609 | HEMOCHROMATOSIS HFE - GLN283PRO HEMOCHROMATOSIS PORPHYRIA CUTANEA TARDA - SUSCEPTIBILITY TO - INCLUDED;; PORPHYRIA VARIEGATA - SUSCEPTIBILITY TO - INCLUDED;; HEMOCHROMATOSIS - JUVENILE - DIGENIC - INCLUDED;; ALZHEIMER DISEASE - SUSCEPTIBILITY TO - INCLUDED;; TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS - INCLUDED;; MICROVASCULAR COMPLICATIONS OF DIABETES - SUSCEPTIBILITY TO - 7 - INCLUDED HFE - CYS282TYR |
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| 159530 | THROMBOCYTHEMIA - SUSCEPTIBILITY TO MPL - LYS39ASN AMEGAKARYOCYTIC THROMBOCYTOPENIA - CONGENITAL MPL - PRO275THR AMEGAKARYOCYTIC THROMBOCYTOPENIA - CONGENITAL MPL - ARG102PRO AMEGAKARYOCYTIC THROMBOCYTOPENIA - CONGENITAL MPL - ARG257CYS |
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| 606702 | POLYCYSTIC KIDNEY DISEASE - AUTOSOMAL RECESSIVE PKHD1 - VAL1741MET |
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| 300017 | CARDIAC VALVULAR DYSPLASIA - X-LINKED FLNA - PRO637GLN MELNICK-NEEDLES SYNDROME FLNA - ALA1188THR FRONTOMETAPHYSEAL DYSPLASIA FLNA - ASP1159ALA MELNICK-NEEDLES SYNDROME FLNA - SER1199LEU CARDIAC VALVULAR DYSPLASIA - X-LINKED FLNA - GLY288ARG FRONTOMETAPHYSEAL DYSPLASIA FLNA - SER1186LEU FG SYNDROME 2 FLNA - PRO1291LEU HETEROTOPIA - PERIVENTRICULAR NODULAR - X-LINKED DOMINANT FLNA - LEU656PHE OTOPALATODIGITAL SPECTRUM DISORDER FLNA - GLY1728CYS CARDIAC VALVULAR DYSPLASIA - X-LINKED FLNA - VAL711ASP |
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| 600946 | LARON SYNDROME GHR - PHE96SER SHORT STATURE - IDIOPATHIC - AUTOSOMAL GHR - GLU44LYS SHORT STATURE - IDIOPATHIC - AUTOSOMAL GHR - GLU224ASP LARON SYNDROME GHR - HIS150GLN LARON SYNDROME GHR - VAL155GLY SHORT STATURE - IDIOPATHIC - AUTOSOMAL GHR - VAL144ILE SHORT STATURE - IDIOPATHIC - AUTOSOMAL GHR - ARG161CYS LARON SYNDROME GHR - ILE153THR LARON SYNDROME GHR - ASP152HIS LARON SYNDROME GHR - GLN154PRO LARON SYNDROME GHR - CYS94SER LARON SYNDROME WITH UNDETECTABLE SERUM GH-BINDING PROTEIN GHR - PRO131GLN |
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| 190195 | ICHTHYOSIS - LAMELLAR - 1 ICHTHYOSIFORM ERYTHRODERMA - CONGENITAL - NONBULLOUS - 1 - INCLUDED TGM1 - ARG142CYS ICHTHYOSIS - LAMELLAR - 1 TGM1 - GLY94ASP ICHTHYOSIS - LAMELLAR - 1 TGM1 - ARG142HIS ICHTHYOSIS - LAMELLAR - 1 TGM1 - SER160CYS |
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| 146933 | INFLAMMATORY BOWEL DISEASE 28 IL10RA - GLY141ARG INFLAMMATORY BOWEL DISEASE 28 IL10RA - THR84ILE |
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| 608630 | GAZE PALSY - FAMILIAL HORIZONTAL - WITH PROGRESSIVE SCOLIOSIS ROBO3 - SER705PRO GAZE PALSY - FAMILIAL HORIZONTAL - WITH PROGRESSIVE SCOLIOSIS ROBO3 - ARG245TRP GAZE PALSY - FAMILIAL HORIZONTAL - WITH PROGRESSIVE SCOLIOSIS ROBO3 - ARG703PRO GAZE PALSY - FAMILIAL HORIZONTAL - WITH PROGRESSIVE SCOLIOSIS ROBO3 - GLU319LYS GAZE PALSY - FAMILIAL HORIZONTAL - WITH PROGRESSIVE SCOLIOSIS ROBO3 - GLY361GLU GAZE PALSY - FAMILIAL HORIZONTAL - WITH PROGRESSIVE SCOLIOSIS ROBO3 - ILE66LEU |
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| 609017 | SCIANNA BLOOD GROUP SYSTEM - STAR ANTIGEN ERMAP - GLU47LYS RADIN BLOOD GROUP ANTIGEN ERMAP - PRO60ALA SCIANNA BLOOD GROUP SYSTEM - SC:-1 -2 ERMAP - GLY57ARG |
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| 120470 | ESOPHAGEAL CARCINOMA - SOMATIC DCC - MET168THR |
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| 134570 | FACTOR XIII - A SUBUNIT - DEFICIENCY OF F13A1 - ARG681HIS MYOCARDIAL INFARCTION - PROTECTION AGAINST VENOUS THROMBOSIS - PROTECTION AGAINST - INCLUDED F13A1 - VAL34LEU FACTOR XIII - A SUBUNIT - DEFICIENCY OF F13A1 - ASN60LYS FACTOR XIII - A SUBUNIT - DEFICIENCY OF F13A1 - GLY562ARG FACTOR XIII - A SUBUNIT - DEFICIENCY OF F13A1 - ARG703TRP |
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