Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ACAN gene ACAN Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen Osteogenesis imperfecta Musculoskeletal Spondyloepiphyseal dysplasia, Kimberley type, 608361;Spondyloepimetaphyseal dysplasia, aggrecan type, 612813;Osteochondritis dissecans, short stature, and early-onset osteoarthritis, 165800; Spondyloepimetaphyseal dysplasia, aggrecan type, 612813; Osteochondritis dissecans, short stature, and early-onset osteoarthritis, 165800;Disproportionate Short Stature False 1 0;0;100 5.5 True ENSG00000157766 ENSG00000157766 HGNC:319 ANKH gene ANKH Emory Genetics Laboratory;Expert Review Red Osteogenesis imperfecta Musculoskeletal Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias;Disproportionate Short Stature False 1 0;0;100 5.5 True ENSG00000154122 ENSG00000154122 HGNC:15492 ANO5 gene ANO5 Emory Genetics Laboratory;Expert Review Red Osteogenesis imperfecta Musculoskeletal Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias;Disproportionate Short Stature False 1 0;0;100 5.5 True ENSG00000171714 ENSG00000171714 HGNC:27337 ATP6V0A2 gene ATP6V0A2 Emory Genetics Laboratory Osteogenesis imperfecta Musculoskeletal Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias False 1 0;0;100 5.5 False ENSG00000185344 ENSG00000185344 HGNC:18481 B3GAT3 gene B3GAT3 Radboud University Medical Center, Nijmegen Osteogenesis imperfecta Musculoskeletal Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600 False 1 0;0;100 5.5 False ENSG00000149541 ENSG00000149541 HGNC:923 CLCN5 gene CLCN5 Emory Genetics Laboratory;Expert Review Red Osteogenesis imperfecta Musculoskeletal Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias False 1 0;0;100 5.5 True ENSG00000171365 ENSG00000171365 HGNC:2023 COL10A1 gene COL10A1 Emory Genetics Laboratory;Expert Review Red Osteogenesis imperfecta Musculoskeletal Disproportionate Short Stature False 1 50;0;50 5.5 True ENSG00000123500 ENSG00000123500 HGNC:2185 COL11A1 gene COL11A1 Emory Genetics Laboratory;Expert Review Red;NHS GMS Osteogenesis imperfecta Musculoskeletal Disproportionate Short Stature;ibrochondrogenesis 1228520;Stickler syndrome, type II 604841;Marshall Syndrome 154780 17236192 False 1 75;25;0 5.5 True ENSG00000060718 ENSG00000060718 HGNC:2186 COL11A2 gene COL11A2 Emory Genetics Laboratory;Expert Review Red;NHS GMS Osteogenesis imperfecta Musculoskeletal Disproportionate Short Stature;Stickler Syndrome, Type III;Otospondylomegaepiphyseal dysplasia 184840 7859284;9506662;15372529 False 1 75;25;0 5.5 True ENSG00000204248 ENSG00000204248 HGNC:2187 COL12A1 gene COL12A1 Radboud University Medical Center, Nijmegen Osteogenesis imperfecta Musculoskeletal {Lung cancer, susceptibility to, association with}(Rudd (2006) Genome Res 16,693); Bethlem-like myopathy (Hicks (2014) Hum Mol Genet 23,2353); Joint hypermobility syndrome with myopathy (Zou (2014) Hum Mol Genet 23, 2339) False 1 0;0;100 5.5 False ENSG00000111799 ENSG00000111799 HGNC:2188 COL2A1 gene COL2A1 Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen Osteogenesis imperfecta Musculoskeletal Stickler syndrome, type I, 108300; Kniest dysplasia, 156550; Achondrogenesis, type II or hypochondrogenesis, 200610; SED congenita, 183900; SMED Strudwick type, 184250; Epiphyseal dysplasia, multiple, with myopia and deafness, 132450; Spondyloperipheral dysplasia, 271700; SED, Namaqualand type; Osteoarthritis with mild chondrodysplasia, 604864; Vitreoretinopathy with phalangeal epiphyseal dysplasia; Platyspondylic skeletal dysplasia, Torrance type, 151210; Otospondylomegaepiphyseal dysplasia, 215150; Avascular necrosis of the femoral head, 608805; Legg-Calve-Perthes disease, 150600; Stickler sydrome, type I, nonsyndromic ocular, 609508; Czech dysplasia, 609162;Disproportionate Short Stature False 1 67;0;33 5.5 False ENSG00000139219 ENSG00000139219 HGNC:2200 COL5A1 gene COL5A1 Expert Osteogenesis imperfecta Musculoskeletal False 1 0;0;100 5.5 False ENSG00000130635 ENSG00000130635 HGNC:2209 CREBBP gene CREBBP Emory Genetics Laboratory;Expert Review Red Osteogenesis imperfecta Musculoskeletal Proportionate Short Stature/Small for Gestational Age False 1 50;0;50 5.5 True ENSG00000005339 ENSG00000005339 HGNC:2348 CYP26B1 gene CYP26B1 Radboud University Medical Center, Nijmegen Osteogenesis imperfecta Musculoskeletal Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416 False 1 0;0;100 5.5 False ENSG00000003137 ENSG00000003137 HGNC:20581 DMP1 gene DMP1 Emory Genetics Laboratory;Expert;Expert Review Red;Radboud University Medical Center, Nijmegen Osteogenesis imperfecta Musculoskeletal Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias;Acromesomelic dysplasia, Hunter-Thompson type, 201250; Brachydactyly, type C, 113100; Chondrodysplasia, Grebe type, 200700; Du Pan syndrome, 228900; Brachydactyly, type A2, 112600; Symphalangism, proximal, 1B, 615298; Multiple synostoses syndrome 2, 610017; {Osteoarthritis-5}, 612400; Brachydactyly, type A1, C, 615072; Hypophosphatemic rickets, AR, 241520 False 1 33;0;67 5.5 False ENSG00000152592 ENSG00000152592 HGNC:2932 DSPP gene DSPP Expert Review Red;NHS GMS;Radboud University Medical Center, Nijmegen Osteogenesis imperfecta Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dentinogenesis imperfecta, Shields type II, 125490;Deafness, autosomal dominant 36, with dentinogenesis, 605594;Dentinogenesis imperfecta, Shields type III, 125500;Dentin dysplasia, type II, 125420 -3;no fractures 29512331;27973701 False 1 40;0;60 5.5 True ENSG00000152591 ENSG00000152591 HGNC:3054 ENPP1 gene ENPP1 Emory Genetics Laboratory Osteogenesis imperfecta Musculoskeletal Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias False 1 0;0;100 5.5 False ENSG00000197594 ENSG00000197594 HGNC:3356 ESR1 gene ESR1 Expert;Expert Review Red Osteogenesis imperfecta Musculoskeletal False 1 0;0;100 5.5 False ENSG00000091831 ENSG00000091831 HGNC:3467 FGF23 gene FGF23 Emory Genetics Laboratory;Expert Review Red Osteogenesis imperfecta Musculoskeletal Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias False 1 33;0;67 5.5 True ENSG00000118972 ENSG00000118972 HGNC:3680 GHR gene GHR Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen Osteogenesis imperfecta Musculoskeletal Laron dwarfism, 262500; Short stature, 604271; {Hypercholesterolemia, familial, modification of}, 143890; Increased responsiveness to growth hormone;Proportionate Short Stature/Small for Gestational Age False 1 0;0;100 5.5 True ENSG00000112964 ENSG00000112964 HGNC:4263 GNAS gene GNAS Emory Genetics Laboratory;Expert Review Red Osteogenesis imperfecta Musculoskeletal Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias False 1 0;0;100 5.5 False ENSG00000087460 ENSG00000087460 HGNC:4392 GNPTAB gene GNPTAB Expert Review;Expert Review Red Osteogenesis imperfecta Musculoskeletal BIALLELIC, autosomal or pseudoautosomal I-cell disease (Mucolipidosis Type II) False 1 0;0;0 5.5 True ENSG00000111670 ENSG00000111670 HGNC:29670 GSC gene GSC Radboud University Medical Center, Nijmegen Osteogenesis imperfecta Musculoskeletal Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, False 1 0;0;100 5.5 False ENSG00000133937 ENSG00000133937 HGNC:4612 LMNA gene LMNA Emory Genetics Laboratory Osteogenesis imperfecta Musculoskeletal Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias False 1 0;0;100 5.5 False ENSG00000160789 ENSG00000160789 HGNC:6636 LRP4 gene LRP4 Expert Osteogenesis imperfecta Musculoskeletal False 1 0;0;100 5.5 False ENSG00000134569 ENSG00000134569 HGNC:6696 LRP6 gene LRP6 Expert Osteogenesis imperfecta Musculoskeletal False 1 0;0;100 5.5 False ENSG00000070018 ENSG00000070018 HGNC:6698 MAFB gene MAFB Emory Genetics Laboratory Osteogenesis imperfecta Musculoskeletal Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias False 1 0;0;100 5.5 False ENSG00000204103 ENSG00000204103 HGNC:6408 MATN3 gene MATN3 Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen Osteogenesis imperfecta Musculoskeletal Epiphyseal dysplasia, multiple, 5, 607078; {Osteoarthritis susceptibility 2}, 140600; Spondyloepimetaphyseal dysplasia, 608728; ;Disproportionate Short Stature False 1 0;0;100 5.5 True ENSG00000132031 ENSG00000132031 HGNC:6909 MMP2 gene MMP2 Emory Genetics Laboratory Osteogenesis imperfecta Musculoskeletal Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias False 1 0;0;100 5.5 False ENSG00000087245 ENSG00000087245 HGNC:7166 OFD1 gene OFD1 Emory Genetics Laboratory Osteogenesis imperfecta Musculoskeletal Oral-Facial-Digital Syndrome False 1 0;0;100 5.5 False ENSG00000046651 ENSG00000046651 HGNC:2567 PAX3 gene PAX3 Illumina TruGenome Clinical Sequencing Services Osteogenesis imperfecta Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Craniofacial-Deafness-Hand Syndrome False 1 0;0;100 5.5 False ENSG00000135903 ENSG00000135903 HGNC:8617 PHEX gene PHEX Emory Genetics Laboratory;Expert;Expert Review Red Osteogenesis imperfecta Musculoskeletal Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias False 1 33;0;67 5.5 True ENSG00000102174 ENSG00000102174 HGNC:8918 PLOD1 gene PLOD1 Expert Osteogenesis imperfecta Musculoskeletal False 1 0;0;100 5.5 False ENSG00000083444 ENSG00000083444 HGNC:9081 POC1A gene POC1A Radboud University Medical Center, Nijmegen Osteogenesis imperfecta Musculoskeletal Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 False 1 0;0;100 5.5 False ENSG00000164087 ENSG00000164087 HGNC:24488 PTPRQ gene PTPRQ Radboud University Medical Center, Nijmegen Osteogenesis imperfecta Musculoskeletal Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 False 1 0;0;100 5.5 False ENSG00000139304 ENSG00000139304 HGNC:9679 PYCR1 gene PYCR1 Emory Genetics Laboratory;Expert Review Red Osteogenesis imperfecta Musculoskeletal Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias False 1 50;0;50 5.5 True ENSG00000183010 ENSG00000183010 HGNC:9721 SHOX gene SHOX Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen Osteogenesis imperfecta Musculoskeletal BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Langer mesomelic dysplasia, OMIM:249700 (PR);Leri-Weill dyschondrosteosis, OMIM:127300 (PD);Short stature, idiopathic familial, OMIM:300582;Dorsolateral bowed, short radii;Bowing and curving of radius;Radioulnar shortening False 1 0;0;100 5.5 True ENSG00000185960 ENSG00000185960 HGNC:10853 SLC34A3 gene SLC34A3 Emory Genetics Laboratory;Expert Review Red Osteogenesis imperfecta Musculoskeletal Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias False 1 50;0;50 5.5 True ENSG00000198569 ENSG00000198569 HGNC:20305 SOST gene SOST Expert Osteogenesis imperfecta Musculoskeletal False 1 0;0;100 5.5 False ENSG00000167941 ENSG00000167941 HGNC:13771 TDP2 gene TDP2 Expert Review Red;Radboud University Medical Center, Nijmegen Osteogenesis imperfecta Musculoskeletal Dentinogenesis imperfecta, Shields type II, 125490 False 1 0;0;100 5.5 False ENSG00000111802 ENSG00000111802 HGNC:17768 TMCO1 gene TMCO1 Radboud University Medical Center, Nijmegen Osteogenesis imperfecta Musculoskeletal Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, False 1 0;0;100 5.5 False ENSG00000143183 ENSG00000143183 HGNC:18188 TNFRSF11A gene TNFRSF11A Emory Genetics Laboratory;Expert Review Red Osteogenesis imperfecta Musculoskeletal Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias False 1 50;0;50 5.5 True ENSG00000141655 ENSG00000141655 HGNC:11908 TNXB gene TNXB Expert Osteogenesis imperfecta Musculoskeletal 26799614 False 1 0;0;100 5.5 False ENSG00000168477 ENSG00000168477 HGNC:11976 TREM2 gene TREM2 Emory Genetics Laboratory Osteogenesis imperfecta Musculoskeletal Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias False 1 0;0;100 5.5 False ENSG00000095970 ENSG00000095970 HGNC:17761 TRMT10A gene TRMT10A Radboud University Medical Center, Nijmegen Osteogenesis imperfecta Musculoskeletal Microcephaly, short stature and impaired glucose metabolism, 616033 False 1 0;0;100 5.5 False ENSG00000145331 ENSG00000145331 HGNC:28403 TYROBP gene TYROBP Emory Genetics Laboratory Osteogenesis imperfecta Musculoskeletal Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias False 1 0;0;100 5.5 False ENSG00000011600 ENSG00000011600 HGNC:12449 VDR gene VDR Expert Osteogenesis imperfecta Musculoskeletal False 1 0;0;100 5.5 False ENSG00000111424 ENSG00000111424 HGNC:12679 ZMPSTE24 gene ZMPSTE24 Emory Genetics Laboratory Osteogenesis imperfecta Musculoskeletal Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias False 1 0;0;100 5.5 False ENSG00000084073 ENSG00000084073 HGNC:12877