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 73 20 13 39
Multiple Exostoses Type 2 29 6
Ext2 57 72
Hereditary Multiple Exostoses 2 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-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 : 72 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-Apr-2021)

Wikipedia : 73 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 40)
# Related Disease Score Top Affiliating Genes
1 hereditary multiple exostoses 11.5
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 mucopolysaccharidosis iii 10.8
24 juxtacortical chondroma 10.8
25 chondroma 10.8
26 breast pericanalicular fibroadenoma 10.8
27 juxtacortical chondrosarcoma 10.8
28 periosteal osteogenic sarcoma 10.8
29 exostoses, multiple, type iii 10.3
30 hypotonia 10.1
31 seizure disorder 10.0
32 type 2 diabetes mellitus 9.8
33 hypertelorism 9.8
34 acute insulin response 9.8
35 alacrima, achalasia, and mental retardation syndrome 9.8
36 brachydactyly 9.8
37 epilepsy 9.8
38 diabetes mellitus 9.8
39 skeletal dysplasias 9.8
40 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-Apr-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-Apr-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 350)
# 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. 6 57 61
30806661 2019
2
New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas. 61 6 57
19344451 2009
3
Genotype-phenotype correlation in hereditary multiple exostoses. 57 6 61
11432960 2001
4
Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. 57 6 61
10679937 2000
5
Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. 61 6 57
9463333 1998
6
Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. 61 6 57
9326317 1997
7
Positional cloning of a gene involved in hereditary multiple exostoses. 61 57 6
8894688 1996
8
The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes. 57 61 6
8782816 1996
9
Novel exostosin-2 missense variants in a family with autosomal recessive exostosin-2-related syndrome: further evidences on the phenotype. 61 6
30288735 2019
10
Heterogeneous spectrum of EXT gene mutations in Chinese patients with hereditary multiple osteochondromas. 61 6
30334991 2018
11
Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas. 61 6
29529714 2018
12
A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients. 6 61
29126381 2017
13
Identification of mutations in EXT1 and EXT2 genes in six Chinese families with multiple osteochondromas. 6 61
28849184 2017
14
Targeted Next-Generation Sequencing Newly Identifies Mutations in Exostosin-1 and Exostosin-2 Genes of Patients with Multiple Osteochondromas. 61 6
28690282 2017
15
Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families. 61 6
28922105 2017
16
Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas. 6 61
26961984 2016
17
Somatic loss of an EXT2 gene mutation during malignant progression in a patient with hereditary multiple osteochondromas. 6 61
25744876 2015
18
[Mutation analysis of EXT2 gene in a family with hereditary multiple exostosis]. 6 61
25449079 2014
19
Loss of function in heparan sulfate elongation genes EXT1 and EXT 2 results in improved nitric oxide bioavailability and endothelial function. 6 61
25468659 2014
20
A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG. 61 6
25230886 2014
21
Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses. 6 61
24532482 2014
22
Clinical characteristics of hereditary multiple exostoses: a retrospective study of mainland chinese cases in recent 23 years. 6 61
24496678 2014
23
A splice mutation and mRNA decay of EXT2 provoke hereditary multiple exostoses. 61 6
24728384 2014
24
Novel and recurrent mutations in the EXT1 and EXT2 genes in Chinese kindreds with multiple osteochondromas. 6 61
23629877 2013
25
20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis. 61 6
23262345 2013
26
Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas. 61 6
23439489 2013
27
Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb). 61 6
19810120 2009
28
Identification of four novel EXT1 and EXT2 mutations in five Chinese pedigrees with hereditary multiple exostoses. 61 6
19839753 2009
29
[A new EXT2 mutation in a Chinese family with hereditary multiple exostoses]. 61 6
19504431 2009
30
Novel EXT1 and EXT2 mutations in hereditary multiple exostoses families of Indian origin. 6 61
19309273 2009
31
A novel mutation in EXT2 gene in a Chinese family with hereditary multiple exostoses. 61 6
18666861 2008
32
Ulna/height ratio as clinical parameter separating EXT1 from EXT2 families? 61 6
18373409 2008
33
Mutation screening of EXT1 and EXT2 by denaturing high-performance liquid chromatography, direct sequencing analysis, fluorescence in situ hybridization, and a new multiplex ligation-dependent probe amplification probe set in patients with multiple osteochondromas. 61 6
18165274 2008
34
Evaluation of the anatomic burden of patients with hereditary multiple exostoses. 61 6
17589361 2007
35
A combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients. 61 6
17301954 2007
36
Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases. 6 61
17041877 2006
37
An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas. 61 6
16283885 2005
38
Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas. 61 6
16088908 2005
39
Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations. 6 61
15586175 2005
40
Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses. 61 6
15221792 2004
41
Reevaluation of a genetic model for the development of exostosis in hereditary multiple exostosis. 61 6
12239711 2002
42
Mutation screening of the EXT genes in patients with hereditary multiple exostoses in Taiwan. 61 6
12490068 2002
43
Ext-mutation analysis in Italian sporadic and hereditary osteochondromas. 6 61
11668521 2001
44
Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes. 6 61
11169766 2001
45
Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses. 6 61
11170095 2001
46
Cytoskeletal abnormalities in chondrocytes with EXT1 and EXT2 mutations. 61 6
10750558 2000
47
Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses. 6 61
10713884 2000
48
Mutation analysis of hereditary multiple exostoses in the Chinese. 61 6
10480354 1999
49
A novel splice site mutation of the EXT2 gene in a Finnish hereditary multiple exostoses family. Mutations in brief no. 197. Online. 6 61
10671060 1998
50
Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2). 57 61
8882796 1996

Variations for Exostoses, Multiple, Type Ii

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

6 (show top 50) (show all 233)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EXT2 NM_000401.3(EXT2):c.549_552CTGT[1] (p.Val187fs) Microsatellite Pathogenic 2471 rs864309636 GRCh37: 11:44129712-44129715
GRCh38: 11:44108162-44108165
2 EXT2 NM_000401.3(EXT2):c.613C>T (p.Gln205Ter) SNV Pathogenic 2472 rs121918279 GRCh37: 11:44129776-44129776
GRCh38: 11:44108226-44108226
3 EXT2 NM_000401.3(EXT2):c.1404+1G>A SNV Pathogenic 2473 rs864309637 GRCh37: 11:44193293-44193293
GRCh38: 11:44171743-44171743
4 EXT2 NM_000401.3(EXT2):c.765C>G (p.Tyr255Ter) SNV Pathogenic 2475 rs121918281 GRCh37: 11:44135774-44135774
GRCh38: 11:44114224-44114224
5 EXT2 NM_000401.3(EXT2):c.871C>T (p.Gln291Ter) SNV Pathogenic 2476 rs267606786 GRCh37: 11:44146367-44146367
GRCh38: 11:44124817-44124817
6 EXT2 NM_000401.3(EXT2):c.497_500dup (p.Met168fs) Duplication Pathogenic 279944 rs886041272 GRCh37: 11:44129659-44129660
GRCh38: 11:44108109-44108110
7 EXT2 NM_000401.3(EXT2):c.343del (p.Asp115fs) Deletion Pathogenic 465699 rs1555002457 GRCh37: 11:44129501-44129501
GRCh38: 11:44107951-44107951
8 EXT2 NM_000401.3(EXT2):c.1005_1006dup (p.His336fs) Duplication Pathogenic 279805 rs886041199 GRCh37: 11:44146500-44146501
GRCh38: 11:44124950-44124951
9 EXT2 NC_000011.10:g.(?_44171591)_(44171762_?)del Deletion Pathogenic 465695 GRCh37:
GRCh38: 11:44171591-44171762
10 EXT2 NM_000401.3(EXT2):c.1036C>T (p.Gln346Ter) SNV Pathogenic 265134 rs763718818 GRCh37: 11:44146532-44146532
GRCh38: 11:44124982-44124982
11 EXT2 NM_000401.3(EXT2):c.528C>A (p.Tyr176Ter) SNV Pathogenic 465701 rs1555002543 GRCh37: 11:44129691-44129691
GRCh38: 11:44108141-44108141
12 EXT2 NC_000011.10:g.(?_44206773)_(44206979_?)del Deletion Pathogenic 465696 GRCh37: 11:44228323-44228529
GRCh38: 11:44206773-44206979
13 EXT2 NM_000401.3(EXT2):c.1027C>T (p.Gln343Ter) SNV Pathogenic 534137 rs1555005398 GRCh37: 11:44146523-44146523
GRCh38: 11:44124973-44124973
14 EXT2 NM_000401.3(EXT2):c.166C>T (p.Arg56Ter) SNV Pathogenic 534138 rs754533434 GRCh37: 11:44129329-44129329
GRCh38: 11:44107779-44107779
15 EXT2 NM_000401.3(EXT2):c.1173G>A (p.Trp391Ter) SNV Pathogenic 534139 rs1450980907 GRCh37: 11:44148500-44148500
GRCh38: 11:44126950-44126950
16 EXT2 NM_000401.3(EXT2):c.1231C>T (p.Gln411Ter) SNV Pathogenic 534140 rs1555006433 GRCh37: 11:44151647-44151647
GRCh38: 11:44130097-44130097
17 EXT2 NC_000011.10:g.(?_44144227)_(44198038_?)del Deletion Pathogenic 534141 GRCh37: 11:44165777-44219588
GRCh38: 11:44144227-44198038
18 EXT2 NM_000401.3(EXT2):c.1178+1G>A SNV Pathogenic 569134 rs1369420640 GRCh37: 11:44148506-44148506
GRCh38: 11:44126956-44126956
19 EXT2 NM_000401.3(EXT2):c.1839G>A (p.Trp613Ter) SNV Pathogenic 572306 rs1564986609 GRCh37: 11:44253980-44253980
GRCh38: 11:44232430-44232430
20 EXT2 NM_000401.3(EXT2):c.1272+2T>A SNV Pathogenic 578983 rs1565205890 GRCh37: 11:44151690-44151690
GRCh38: 11:44130140-44130140
21 EXT2 NM_000401.3(EXT2):c.459_460CT[1] (p.Ser154fs) Microsatellite Pathogenic 581984 rs1565196489 GRCh37: 11:44129621-44129622
GRCh38: 11:44108071-44108072
22 EXT2 NC_000011.10:g.(?_44107663)_(44130158_?)del Deletion Pathogenic 583463 GRCh37: 11:44129213-44151708
GRCh38: 11:44107663-44130158
23 EXT2 NC_000011.10:g.(?_44206793)_(44206959_?)del Deletion Pathogenic 584248 GRCh37: 11:44228343-44228509
GRCh38: 11:44206793-44206959
24 EXT2 NM_000401.3(EXT2):c.613C>T (p.Gln205Ter) SNV Pathogenic 2472 rs121918279 GRCh37: 11:44129776-44129776
GRCh38: 11:44108226-44108226
25 EXT2 NM_000401.3(EXT2):c.1492C>T (p.Arg498Ter) SNV Pathogenic 580003 rs772690312 GRCh37: 11:44219466-44219466
GRCh38: 11:44197916-44197916
26 EXT2 NM_000401.3(EXT2):c.1051_1052TG[2] (p.Val352fs) Microsatellite Pathogenic 640236 rs1590570665 GRCh37: 11:44148378-44148379
GRCh38: 11:44126828-44126829
27 EXT2 NM_000401.3(EXT2):c.344dup (p.Asp115fs) Duplication Pathogenic 449018 rs1555002460 GRCh37: 11:44129506-44129507
GRCh38: 11:44107956-44107957
28 EXT2 NM_000401.3(EXT2):c.767G>C (p.Arg256Pro) SNV Pathogenic 649849 rs764379119 GRCh37: 11:44135776-44135776
GRCh38: 11:44114226-44114226
29 EXT2 NM_000401.3(EXT2):c.1286G>A (p.Trp429Ter) SNV Pathogenic 655909 rs750542485 GRCh37: 11:44193174-44193174
GRCh38: 11:44171624-44171624
30 EXT2 NM_207122.2(EXT2):c.590del (p.Pro197fs) Deletion Pathogenic 657872 rs1565197245 GRCh37: 11:44130793-44130793
GRCh38: 11:44109243-44109243
31 EXT2 NM_207122.2(EXT2):c.1627dup (p.Met543fs) Duplication Pathogenic 660873 rs1590647371 GRCh37: 11:44228473-44228474
GRCh38: 11:44206923-44206924
32 EXT2 NM_207122.2(EXT2):c.1189dup (p.Glu397fs) Duplication Pathogenic 661841 rs1590618771 GRCh37: 11:44193173-44193174
GRCh38: 11:44171623-44171624
33 EXT2 NM_207122.1(EXT2):c.861_1173+5287del Deletion Pathogenic 662037 GRCh37:
GRCh38: 11:44124906-44135425
34 EXT2 NM_207122.2(EXT2):c.1032del (p.Ile344fs) Deletion Pathogenic 666014 rs1590570953 GRCh37: 11:44148457-44148457
GRCh38: 11:44126907-44126907
35 EXT2 NC_000011.10:g.(?_44171591)_(44206979_?)del Deletion Pathogenic 830413 GRCh37: 11:44193141-44228529
GRCh38:
36 EXT2 NC_000011.10:g.(?_44107663)_(44108268_?)del Deletion Pathogenic 830793 GRCh37: 11:44129213-44129818
GRCh38:
37 EXT2 NC_000011.10:g.(?_44107663)_(44109303_?)del Deletion Pathogenic 831261 GRCh37: 11:44129213-44130853
GRCh38:
38 EXT2 NC_000011.10:g.(?_44096233)_(44130158_?)del Deletion Pathogenic 832079 GRCh37: 11:44117783-44151708
GRCh38:
39 EXT2 NC_000011.10:g.(?_44124769)_(44126975_?)del Deletion Pathogenic 833010 GRCh37: 11:44146319-44148525
GRCh38:
40 EXT2 NC_000011.10:g.(?_44096233)_(44244388_?)del Deletion Pathogenic 833128 GRCh37: 11:44117783-44265938
GRCh38:
41 EXT2 NM_207122.2(EXT2):c.426C>G (p.Tyr142Ter) SNV Pathogenic 834059 GRCh37: 11:44129688-44129688
GRCh38: 11:44108138-44108138
42 EXT2 NM_207122.2(EXT2):c.817C>T (p.Gln273Ter) SNV Pathogenic 835204 GRCh37: 11:44146412-44146412
GRCh38: 11:44124862-44124862
43 EXT2 NM_207122.2(EXT2):c.394G>T (p.Glu132Ter) SNV Pathogenic 838385 GRCh37: 11:44129656-44129656
GRCh38: 11:44108106-44108106
44 EXT2 NM_207122.2(EXT2):c.756C>A (p.Tyr252Ter) SNV Pathogenic 839699 GRCh37: 11:44146351-44146351
GRCh38: 11:44124801-44124801
45 EXT2 NM_207122.2(EXT2):c.699T>G (p.Tyr233Ter) SNV Pathogenic 848100 GRCh37: 11:44135807-44135807
GRCh38: 11:44114257-44114257
46 EXT2 NM_207122.2(EXT2):c.600_601CA[1] (p.Thr201fs) Microsatellite Pathogenic 853100 GRCh37: 11:44130806-44130807
GRCh38: 11:44109256-44109257
47 EXT2 NM_207122.2(EXT2):c.211del (p.Leu71fs) Deletion Pathogenic 853306 GRCh37: 11:44129473-44129473
GRCh38: 11:44107923-44107923
48 EXT2 NM_207122.2(EXT2):c.1079+1G>T SNV Pathogenic 854123 GRCh37: 11:44148506-44148506
GRCh38: 11:44126956-44126956
49 EXT2 NM_207122.2(EXT2):c.455_458TGTT[1] (p.Val154fs) Microsatellite Pathogenic 854619 GRCh37: 11:44129717-44129720
GRCh38: 11:44108167-44108170
50 EXT2 NM_000401.3(EXT2):c.725+1G>A SNV Pathogenic 503618 rs1057521132 GRCh37: 11:44130834-44130834
GRCh38: 11:44109284-44109284

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

72
# 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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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