EXT2
MCID: EXS020
MIFTS: 38

Exostoses, Multiple, Type Ii (EXT2)

Categories: Bone diseases, Cancer diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Rare diseases

Aliases & Classifications for Exostoses, Multiple, Type Ii

MalaCards integrated aliases for Exostoses, Multiple, Type Ii:

Name: Exostoses, Multiple, Type Ii 57
Exostoses, Multiple, Type 2 57 74 20 13 39
Multiple Exostoses Type 2 29 6
Ext2 57 73
Hereditary Multiple Exostoses 2 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
more severe in males than in females
onset early childhood
lesions continue to grow until epiphyseal plate closure


HPO:

31
exostoses, multiple, type ii:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset


Classifications:



External Ids:

OMIM® 57 133701
MedGen 41 C1851413

Summaries for Exostoses, Multiple, Type Ii

UniProtKB/Swiss-Prot : 73 Hereditary multiple exostoses 2: EXT is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal disorder primarily affecting endochondral bone during growth. The disease is characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or osteochondromas) that are often accompanied by skeletal deformities and short stature. In a small percentage of cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma. Osteochondromas development can also occur as a sporadic event.

MalaCards based summary : Exostoses, Multiple, Type Ii, also known as exostoses, multiple, type 2, is related to hereditary multiple exostoses and exostoses, multiple, type i. An important gene associated with Exostoses, Multiple, Type Ii is EXT2 (Exostosin Glycosyltransferase 2). Affiliated tissues include bone, brain and liver, and related phenotypes are short stature and genu valgum

OMIM® : 57 Hereditary multiple exostoses is an autosomal dominant disorder characterized by multiple exostoses most commonly arising from the juxtaepiphyseal region of the long bones. For a general phenotypic description and a discussion of genetic heterogeneity of multiple exostoses, see EXT1 (133700). (133701) (Updated 05-Mar-2021)

Wikipedia : 74 Hereditary multiple osteochondromas (HMO), also known as hereditary multiple exostoses, is a disorder... more...

Related Diseases for Exostoses, Multiple, Type Ii

Diseases in the Hereditary Multiple Exostoses family:

Exostoses, Multiple, Type I Exostoses, Multiple, Type Ii
Exostoses, Multiple, Type Iii

Diseases related to Exostoses, Multiple, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 hereditary multiple exostoses 11.4
2 exostoses, multiple, type i 11.3
3 potocki-shaffer syndrome 11.3
4 hereditary multiple osteochondromas 11.3
5 osteochondroma 11.3
6 exostosis 11.2
7 chondrosarcoma 11.2
8 microcephaly 11.2
9 seizures, scoliosis, and macrocephaly/microcephaly syndrome 11.1
10 bone disease 11.1
11 scoliosis 11.1
12 dysostosis 11.0
13 metachondromatosis 10.9
14 parietal foramina 10.9
15 dysplasia epiphysealis hemimelica 10.8
16 trichorhinophalangeal syndrome, type ii 10.8
17 enchondromatosis, multiple, ollier type 10.8
18 odontochondrodysplasia 10.8
19 multiple enchondromatosis, maffucci type 10.8
20 bone remodeling disease 10.8
21 ankylosing spondylitis 3 10.8
22 bone sarcoma 10.8
23 juxtacortical chondroma 10.8
24 chondroma 10.8
25 breast pericanalicular fibroadenoma 10.8
26 juxtacortical chondrosarcoma 10.8
27 periosteal osteogenic sarcoma 10.8
28 exostoses, multiple, type iii 10.3
29 hypotonia 10.1
30 seizure disorder 10.0
31 type 2 diabetes mellitus 9.8
32 hypertelorism 9.8
33 acute insulin response 9.8
34 alacrima, achalasia, and mental retardation syndrome 9.8
35 brachydactyly 9.8
36 epilepsy 9.8
37 diabetes mellitus 9.8
38 skeletal dysplasias 9.8
39 overgrowth syndrome 9.8

Graphical network of the top 20 diseases related to Exostoses, Multiple, Type Ii:



Diseases related to Exostoses, Multiple, Type Ii

Symptoms & Phenotypes for Exostoses, Multiple, Type Ii

Human phenotypes related to Exostoses, Multiple, Type Ii:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 short stature 31 frequent (33%) HP:0004322
2 genu valgum 31 HP:0002857
3 coxa vara 31 HP:0002812
4 short metacarpal 31 HP:0010049
5 rib exostoses 31 HP:0000896
6 chondrosarcoma 31 HP:0006765
7 pelvic bone exostoses 31 HP:0003276
8 peripheral nerve compression 31 HP:0003406
9 scapular exostoses 31 HP:0000918
10 cervical myelopathy 31 HP:0002318
11 madelung-like forearm deformities 31 HP:0003068
12 protuberances at ends of long bones 31 HP:0003105

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal Limbs:
genu valgum
short metacarpal
madelung-like forearm deformities
protuberances at ends of long bones
exostoses in juxtaepiphyseal regions of the long bones

Chest Ribs Sternum Clavicles And Scapulae:
rib exostoses
scapular exostoses

Growth Height:
short stature in less than 50%

Skeletal Pelvis:
coxa vara
pelvic exostoses

Neurologic Peripheral Nervous System:
peripheral nerve compression
cervical myelopathy

Neoplasia:
increased risk of chondrosarcoma

Clinical features from OMIM®:

133701 (Updated 05-Mar-2021)

Drugs & Therapeutics for Exostoses, Multiple, Type Ii

Search Clinical Trials , NIH Clinical Center for Exostoses, Multiple, Type Ii

Genetic Tests for Exostoses, Multiple, Type Ii

Genetic tests related to Exostoses, Multiple, Type Ii:

# Genetic test Affiliating Genes
1 Multiple Exostoses Type 2 29 EXT2

Anatomical Context for Exostoses, Multiple, Type Ii

MalaCards organs/tissues related to Exostoses, Multiple, Type Ii:

40
Bone, Brain, Liver, Lung, Prostate, Kidney, Pancreas

Publications for Exostoses, Multiple, Type Ii

Articles related to Exostoses, Multiple, Type Ii:

(show top 50) (show all 341)
# Title Authors PMID Year
1
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants. 57 6 61
30806661 2019
2
New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas. 61 57 6
19344451 2009
3
Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. 61 6 57
10679937 2000
4
Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. 6 57 61
9326317 1997
5
The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes. 61 6 57
8782816 1996
6
Novel exostosin-2 missense variants in a family with autosomal recessive exostosin-2-related syndrome: further evidences on the phenotype. 61 6
30288735 2019
7
Genotype-phenotype correlation in hereditary multiple exostoses. 61 57
11432960 2001
8
Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. 61 57
9463333 1998
9
Positional cloning of a gene involved in hereditary multiple exostoses. 57 61
8894688 1996
10
Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2). 61 57
8882796 1996
11
Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11. 61 57
7668264 1995
12
Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome II and loss of heterozygosity for EXT-linked markers on chromosomes II and 8. 57 61
7726168 1995
13
The genotype-phenotype correlation of hereditary multiple exostoses. 57
16879194 2006
14
Hereditary multiple exostoses: confirmation of linkage to chromosomes 8 and 11. 57
8882395 1996
15
WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2). 57
8558565 1995
16
Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11. 57
8162019 1994
17
Genetic heterogeneity in families with hereditary multiple exostoses. 57
8317501 1993
18
Identification of Novel Mutations in the EXT1 and EXT2 Genes of Chinese Patients with Hereditary Multiple Osteochondromas. 61
33596140 2021
19
Disclosure of secondary findings in exome sequencing of 2480 Japanese cancer patients. 61
32710294 2021
20
Hereditary multiple osteochondromas in Jordanian patients: Mutational and immunohistochemical analysis of EXT1 and EXT2 genes. 61
33552269 2021
21
New 'Antigens' in Membranous Nephropathy. 61
33380523 2021
22
In Patients with Membranous Lupus Nephritis, Exostosin-Positivity and Exostosin-Negativity Represent Two Different Phenotypes. 61
33478971 2021
23
Exostosin1 as a novel prognostic and predictive biomarker for squamous cell lung carcinoma: A study based on bioinformatics analysis. 61
33314711 2020
24
An analysis of osteoporosis in patients with hereditary multiple exostoses. 61
32642853 2020
25
Heparan sulfate deficiency leads to hypertrophic chondrocytes by increasing bone morphogenetic protein signaling. 61
32818603 2020
26
New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review. 61
33126574 2020
27
Novel deletion and 2397 G>T mutations of the EXT1 gene identified in two Chinese pedigrees with hereditary multiple exostoses using exon sequencing. 61
33209724 2020
28
A Novel Nonsense Mutation in the EXT2 Gene Identified in a Family with Hereditary Multiple Osteochondromas. 61
32678989 2020
29
Human Milk Oligosaccharides Mediate the Crosstalk Between Intestinal Epithelial Caco-2 Cells and Lactobacillus PlantarumWCFS1in an In Vitro Model with Intestinal Peristaltic Shear Force. 61
32542361 2020
30
[Genetic analysis of five pedigrees affected with multiple osteochondromas]. 61
32619249 2020
31
Correlation between mutated genes and forearm deformity in patients with multiple osteochondroma. 61
32636136 2020
32
Proteomics Reveals that Methylmalonyl-CoA Mutase Modulates Cell Architecture and Increases Susceptibility to Stress. 61
32679819 2020
33
Transcriptomics analysis of pericytes from retinas of diabetic animals reveals novel genes and molecular pathways relevant to blood-retinal barrier alterations in diabetic retinopathy. 61
32376470 2020
34
Identification of Novel EXT Mutations in Patients with Hereditary Multiple Exostoses Using Whole-Exome Sequencing. 61
32293802 2020
35
The contribution of hereditary cancer-related germline mutations to lung cancer susceptibility. 61
32676327 2020
36
Early pregnancy dyslipidemia is associated with placental DNA methylation at loci relevant for cardiometabolic diseases. 61
32677467 2020
37
An unusual diagnosis for an usual test. 61
32522262 2020
38
Proteomic Analysis of Complement Proteins in Membranous Nephropathy. 61
32405583 2020
39
No correlation between the variants of exostosin 2 gene and type 2 diabetes in Burkina Faso population. 61
33209235 2020
40
[Cartilage tumors: morphology, genetics, and current aspects of target therapy]. 61
32060685 2020
41
The effect of stereoisomerism on the 4D-QSAR study of some dipeptidyl boron derivatives. 61
31918171 2020
42
A Novel Prognostic Index Based on the Analysis of Glycolysis-Related Genes in Head and Neck Squamous Cell Carcinomas. 61
33029143 2020
43
EXT1 and EXT2 Variants in 22 Chinese Families With Multiple Osteochondromas: Seven New Variants and Potentiation of Preimplantation Genetic Testing and Prenatal Diagnosis. 61
33414810 2020
44
Glomerular permeability is not affected by heparan sulfate glycosaminoglycan deficiency in zebrafish embryos. 61
31461353 2019
45
A family with limb girdle muscular dystrophy type 1B and multiple exostoses. 61
31296281 2019
46
[Identification of pathogenic variations in two Chinese pedigrees affected with hereditary multiple exostosis]. 61
31400121 2019
47
Exostosin 1/Exostosin 2-Associated Membranous Nephropathy. 61
31061139 2019
48
Identification of pathogenic mutations in 6 Chinese families with multiple exostoses by whole-exome sequencing and multiplex ligation-dependent probe amplification: Case series. 61
31096510 2019
49
[Analysis of EXT1 and EXT2 gene mutations in two Chinese pedigrees affected with hereditary multiple exostosis]. 61
31030431 2019
50
Identification of a novel mutation in EXT2 in a fourth-generation Korean family with multiple osteochondromas and overview of mutation spectrum. 61
30730578 2019

Variations for Exostoses, Multiple, Type Ii

ClinVar genetic disease variations for Exostoses, Multiple, Type Ii:

6 (show top 50) (show all 215)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EXT2 NM_000401.3(EXT2):c.549_552CTGT[1] (p.Val187fs) Microsatellite Pathogenic 2471 rs864309636 11:44129712-44129715 11:44108162-44108165
2 EXT2 NM_000401.3(EXT2):c.1404+1G>A SNV Pathogenic 2473 rs864309637 11:44193293-44193293 11:44171743-44171743
3 EXT2 NM_000401.3(EXT2):c.778G>A (p.Asp260Asn) SNV Pathogenic 2474 rs121918280 11:44135787-44135787 11:44114237-44114237
4 EXT2 NM_000401.3(EXT2):c.765C>G (p.Tyr255Ter) SNV Pathogenic 2475 rs121918281 11:44135774-44135774 11:44114224-44114224
5 EXT2 NM_000401.3(EXT2):c.871C>T (p.Gln291Ter) SNV Pathogenic 2476 rs267606786 11:44146367-44146367 11:44124817-44124817
6 EXT2 NM_000401.3(EXT2):c.843-2A>C SNV Pathogenic 2477 rs864309638 11:44146337-44146337 11:44124787-44124787
7 EXT2 NM_000401.3(EXT2):c.497_500dup (p.Met168fs) Duplication Pathogenic 279944 rs886041272 11:44129659-44129660 11:44108109-44108110
8 EXT2 NM_000401.3(EXT2):c.343del (p.Asp115fs) Deletion Pathogenic 465699 rs1555002457 11:44129501-44129501 11:44107951-44107951
9 EXT2 NM_000401.3(EXT2):c.1005_1006dup (p.His336fs) Duplication Pathogenic 279805 rs886041199 11:44146500-44146501 11:44124950-44124951
10 EXT2 NM_000401.3(EXT2):c.1036C>T (p.Gln346Ter) SNV Pathogenic 265134 rs763718818 11:44146532-44146532 11:44124982-44124982
11 EXT2 NM_000401.3(EXT2):c.528C>A (p.Tyr176Ter) SNV Pathogenic 465701 rs1555002543 11:44129691-44129691 11:44108141-44108141
12 EXT2 NM_000401.3(EXT2):c.1027C>T (p.Gln343Ter) SNV Pathogenic 534137 rs1555005398 11:44146523-44146523 11:44124973-44124973
13 EXT2 NM_000401.3(EXT2):c.1173G>A (p.Trp391Ter) SNV Pathogenic 534139 rs1450980907 11:44148500-44148500 11:44126950-44126950
14 EXT2 NM_000401.3(EXT2):c.1231C>T (p.Gln411Ter) SNV Pathogenic 534140 rs1555006433 11:44151647-44151647 11:44130097-44130097
15 EXT2 NM_000401.3(EXT2):c.769C>T (p.Gln257Ter) SNV Pathogenic 568961 rs1565199251 11:44135778-44135778 11:44114228-44114228
16 EXT2 NM_000401.3(EXT2):c.1178+1G>A SNV Pathogenic 569134 rs1369420640 11:44148506-44148506 11:44126956-44126956
17 EXT2 NM_000401.3(EXT2):c.1839G>A (p.Trp613Ter) SNV Pathogenic 572306 rs1564986609 11:44253980-44253980 11:44232430-44232430
18 EXT2 NM_000401.3(EXT2):c.1272+2T>A SNV Pathogenic 578983 rs1565205890 11:44151690-44151690 11:44130140-44130140
19 EXT2 NM_000401.3(EXT2):c.459_460CT[1] (p.Ser154fs) Microsatellite Pathogenic 581984 rs1565196489 11:44129621-44129622 11:44108071-44108072
20 EXT2 NM_000401.3(EXT2):c.643C>T (p.Arg215Ter) SNV Pathogenic 265133 rs886039358 11:44130751-44130751 11:44109201-44109201
21 EXT2 NM_000401.3(EXT2):c.1492C>T (p.Arg498Ter) SNV Pathogenic 580003 rs772690312 11:44219466-44219466 11:44197916-44197916
22 EXT2 NM_000401.3(EXT2):c.767G>C (p.Arg256Pro) SNV Pathogenic 649849 rs764379119 11:44135776-44135776 11:44114226-44114226
23 EXT2 NM_000401.3(EXT2):c.1286G>A (p.Trp429Ter) SNV Pathogenic 655909 rs750542485 11:44193174-44193174 11:44171624-44171624
24 EXT2 NM_207122.2(EXT2):c.590del (p.Pro197fs) Deletion Pathogenic 657872 rs1565197245 11:44130793-44130793 11:44109243-44109243
25 EXT2 NM_207122.2(EXT2):c.1627dup (p.Met543fs) Duplication Pathogenic 660873 rs1590647371 11:44228473-44228474 11:44206923-44206924
26 EXT2 NM_207122.2(EXT2):c.1189dup (p.Glu397fs) Duplication Pathogenic 661841 rs1590618771 11:44193173-44193174 11:44171623-44171624
27 EXT2 NM_207122.1(EXT2):c.861_1173+5287del Deletion Pathogenic 662037 11:44124906-44135425
28 EXT2 NM_207122.2(EXT2):c.1032del (p.Ile344fs) Deletion Pathogenic 666014 rs1590570953 11:44148457-44148457 11:44126907-44126907
29 EXT2 NM_000401.3(EXT2):c.1051_1052TG[2] (p.Val352fs) Microsatellite Pathogenic 640236 rs1590570665 11:44148378-44148379 11:44126828-44126829
30 EXT2 NM_000401.3(EXT2):c.344dup (p.Asp115fs) Duplication Pathogenic 449018 rs1555002460 11:44129506-44129507 11:44107956-44107957
31 EXT2 NC_000011.10:g.(?_44171591)_(44206979_?)del Deletion Pathogenic 830413 11:44193141-44228529
32 EXT2 NC_000011.10:g.(?_44107663)_(44108268_?)del Deletion Pathogenic 830793 11:44129213-44129818
33 EXT2 NC_000011.10:g.(?_44107663)_(44109303_?)del Deletion Pathogenic 831261 11:44129213-44130853
34 EXT2 NC_000011.10:g.(?_44096233)_(44130158_?)del Deletion Pathogenic 832079 11:44117783-44151708
35 EXT2 NC_000011.10:g.(?_44124769)_(44126975_?)del Deletion Pathogenic 833010 11:44146319-44148525
36 EXT2 NC_000011.10:g.(?_44096233)_(44244388_?)del Deletion Pathogenic 833128 11:44117783-44265938
37 EXT2 NM_207122.2(EXT2):c.426C>G (p.Tyr142Ter) SNV Pathogenic 834059 11:44129688-44129688 11:44108138-44108138
38 EXT2 NM_207122.2(EXT2):c.817C>T (p.Gln273Ter) SNV Pathogenic 835204 11:44146412-44146412 11:44124862-44124862
39 EXT2 NM_207122.2(EXT2):c.394G>T (p.Glu132Ter) SNV Pathogenic 838385 11:44129656-44129656 11:44108106-44108106
40 EXT2 NM_207122.2(EXT2):c.756C>A (p.Tyr252Ter) SNV Pathogenic 839699 11:44146351-44146351 11:44124801-44124801
41 EXT2 NM_207122.2(EXT2):c.699T>G (p.Tyr233Ter) SNV Pathogenic 848100 11:44135807-44135807 11:44114257-44114257
42 EXT2 NM_207122.2(EXT2):c.600_601CA[1] (p.Thr201fs) Microsatellite Pathogenic 853100 11:44130806-44130807 11:44109256-44109257
43 EXT2 NM_207122.2(EXT2):c.211del (p.Leu71fs) Deletion Pathogenic 853306 11:44129473-44129473 11:44107923-44107923
44 EXT2 NM_207122.2(EXT2):c.1079+1G>T SNV Pathogenic 854123 11:44148506-44148506 11:44126956-44126956
45 EXT2 NM_207122.2(EXT2):c.455_458TGTT[1] (p.Val154fs) Microsatellite Pathogenic 854619 11:44129717-44129720 11:44108167-44108170
46 EXT2 NM_000401.3(EXT2):c.725+1G>A SNV Pathogenic 503618 rs1057521132 11:44130834-44130834 11:44109284-44109284
47 EXT2 NM_207122.2(EXT2):c.1205C>A (p.Ser402Ter) SNV Pathogenic 862385 11:44193192-44193192 11:44171642-44171642
48 EXT2 NM_207122.2(EXT2):c.743+1_743+2dup Duplication Pathogenic 806647 rs1590555709 11:44135851-44135852 11:44114301-44114302
49 EXT2 NM_207122.2(EXT2):c.744-1G>A SNV Pathogenic 938349 11:44146338-44146338 11:44124788-44124788
50 EXT2 NM_207122.2(EXT2):c.1257T>A (p.Tyr419Ter) SNV Pathogenic 939118 11:44193244-44193244 11:44171694-44171694

UniProtKB/Swiss-Prot genetic disease variations for Exostoses, Multiple, Type Ii:

73
# Symbol AA change Variation ID SNP ID
1 EXT2 p.Asp227Asn VAR_002378 rs121918280
2 EXT2 p.Cys85Arg VAR_012823
3 EXT2 p.Leu152Arg VAR_012824
4 EXT2 p.Arg179Ser VAR_012825
5 EXT2 p.Ala202Val VAR_012826 rs771803942
6 EXT2 p.Arg223Pro VAR_012827 rs764379119
7 EXT2 p.Ile380Thr VAR_012828

Cosmic variations for Exostoses, Multiple, Type Ii:

9 (show top 50) (show all 89)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM86645205 RB1 bone,tibia,osteosarcoma,NS c.1499-1G>T p.? 13:48381246-48381246 6
2 COSM86624252 RB1 bone,tibia,osteosarcoma,NS c.1215+1G>A p.? 13:48373493-48373493 6
3 COSM90850096 KMT2C bone,femur,osteosarcoma,NS c.7214A>G p.E2405G 7:152180062-152180062 6
4 COSM88388477 KMT2C bone,femur,osteosarcoma,NS c.1181G>A p.C394Y 7:152265041-152265041 6
5 COSM88442911 KMT2C bone,femur,osteosarcoma,NS c.8174A>G p.E2725G 7:152177279-152177279 6
6 COSM88389816 KMT2C bone,femur,osteosarcoma,NS c.2459C>T p.T820I 7:152247975-152247975 6
7 COSM88442935 KMT2C bone,femur,osteosarcoma,NS c.1277C>A p.P426Q 7:152263038-152263038 6
8 COSM90850069 KMT2C bone,femur,osteosarcoma,NS c.9769G>A p.E3257K 7:152163808-152163808 6
9 COSM90792434 KMT2C bone,femur,osteosarcoma,NS c.2656C>T p.R886C 7:152235930-152235930 6
10 COSM90790761 KMT2C bone,femur,osteosarcoma,NS c.1181G>A p.C394Y 7:152265041-152265041 6
11 COSM88441962 KMT2C bone,femur,osteosarcoma,NS c.404C>T p.A135V 7:152315324-152315324 6
12 COSM90850919 KMT2C bone,femur,osteosarcoma,NS c.8174A>G p.E2725G 7:152177279-152177279 6
13 COSM88442922 KMT2C bone,femur,osteosarcoma,NS c.6632G>C p.R2211T 7:152181228-152181228 6
14 COSM90850929 KMT2C bone,femur,osteosarcoma,NS c.6632G>C p.R2211T 7:152181228-152181228 6
15 COSM88441911 KMT2C bone,femur,osteosarcoma,NS c.7318C>T p.P2440S 7:152179958-152179958 6
16 COSM90850116 KMT2C bone,femur,osteosarcoma,NS c.3119C>A p.P1040Q 7:152224474-152224474 6
17 COSM88387461 KMT2C bone,femur,osteosarcoma,NS c.2512G>A p.G838S 7:152247922-152247922 6
18 COSM90850903 KMT2C bone,femur,osteosarcoma,NS c.9622T>C p.S3208P 7:152167274-152167274 6
19 COSM88441921 KMT2C bone,femur,osteosarcoma,NS c.7214A>G p.E2405G 7:152180062-152180062 6
20 COSM90850111 KMT2C bone,femur,osteosarcoma,NS c.3155A>T p.K1052I 7:152224438-152224438 6
21 COSM90789498 KMT2C bone,femur,osteosarcoma,NS c.2512G>A p.G838S 7:152247922-152247922 6
22 COSM90792686 KMT2C bone,femur,osteosarcoma,NS c.2459C>T p.T820I 7:152247975-152247975 6
23 COSM88442892 KMT2C bone,femur,osteosarcoma,NS c.9622T>C p.S3208P 7:152167274-152167274 6
24 COSM88441896 KMT2C bone,femur,osteosarcoma,NS c.9769G>A p.E3257K 7:152163808-152163808 6
25 COSM88441903 KMT2C bone,femur,osteosarcoma,NS c.9182A>G p.Q3061R 7:152176271-152176271 6
26 COSM90809622 KMT2C bone,femur,osteosarcoma,NS c.2468T>C p.I823T 7:152247966-152247966 6
27 COSM88442928 KMT2C bone,femur,osteosarcoma,NS c.5459C>G p.S1820C 7:152182401-152182401 6
28 COSM88403451 KMT2C bone,femur,osteosarcoma,NS c.10383T>G p.D3461E 7:152163194-152163194 6
29 COSM88441945 KMT2C bone,femur,osteosarcoma,NS c.3119C>A p.P1040Q 7:152224474-152224474 6
30 COSM88442903 KMT2C bone,femur,osteosarcoma,NS c.9617G>C p.R3206T 7:152167279-152167279 6
31 COSM90850945 KMT2C bone,femur,osteosarcoma,NS c.1277C>A p.P426Q 7:152263038-152263038 6
32 COSM90850106 KMT2C bone,femur,osteosarcoma,NS c.5669G>C p.R1890P 7:152182191-152182191 6
33 COSM90850089 KMT2C bone,femur,osteosarcoma,NS c.7318C>T p.P2440S 7:152179958-152179958 6
34 COSM88441951 KMT2C bone,femur,osteosarcoma,NS c.3029G>T p.C1010F 7:152224564-152224564 6
35 COSM90788208 KMT2C bone,femur,osteosarcoma,NS c.925C>T p.P309S 7:152273792-152273792 6
36 COSM88403468 KMT2C bone,femur,osteosarcoma,NS c.2468T>C p.I823T 7:152247966-152247966 6
37 COSM90850133 KMT2C bone,femur,osteosarcoma,NS c.404C>T p.A135V 7:152315324-152315324 6
38 COSM88389429 KMT2C bone,femur,osteosarcoma,NS c.2656C>T p.R886C 7:152235930-152235930 6
39 COSM88386447 KMT2C bone,femur,osteosarcoma,NS c.925C>T p.P309S 7:152273792-152273792 6
40 COSM88441939 KMT2C bone,femur,osteosarcoma,NS c.3155A>T p.K1052I 7:152224438-152224438 6
41 COSM90850077 KMT2C bone,femur,osteosarcoma,NS c.9182A>G p.Q3061R 7:152176271-152176271 6
42 COSM90850910 KMT2C bone,femur,osteosarcoma,NS c.9617G>C p.R3206T 7:152167279-152167279 6
43 COSM90850939 KMT2C bone,femur,osteosarcoma,NS c.5459C>G p.S1820C 7:152182401-152182401 6
44 COSM90809603 KMT2C bone,femur,osteosarcoma,NS c.10383T>G p.D3461E 7:152163194-152163194 6
45 COSM90850123 KMT2C bone,femur,osteosarcoma,NS c.3029G>T p.C1010F 7:152224564-152224564 6
46 COSM88441932 KMT2C bone,femur,osteosarcoma,NS c.5669G>C p.R1890P 7:152182191-152182191 6
47 COSM103033796 IDH1 bone,femur,chondrosarcoma,NS c.394C>T p.R132C 2:208248389-208248389 6
48 COSM112752272 IDH1 bone,tibia,chondrosarcoma,NS c.394C>T p.R132C 2:208248389-208248389 6
49 COSM103034038 IDH1 bone,femur,chondrosarcoma,NS c.394C>G p.R132G 2:208248389-208248389 6
50 COSM90465396 IDH1 bone,scapula,chondrosarcoma,NS c.394C>T p.R132C 2:208248389-208248389 6

Expression for Exostoses, Multiple, Type Ii

Search GEO for disease gene expression data for Exostoses, Multiple, Type Ii.

Pathways for Exostoses, Multiple, Type Ii

GO Terms for Exostoses, Multiple, Type Ii

Sources for Exostoses, Multiple, Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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