EXT2
MCID: EXS020
MIFTS: 39

Exostoses, Multiple, Type Ii (EXT2)

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

Aliases & Classifications for Exostoses, Multiple, Type Ii

MalaCards integrated aliases for Exostoses, Multiple, Type Ii:

Name: Exostoses, Multiple, Type Ii 56
Exostoses, Multiple, Type 2 56 74 52 13 39
Multiple Exostoses Type 2 29 6
Ext2 56 73
Hereditary Multiple Exostoses 2 73

Characteristics:

OMIM:

56
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 56 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 potocki-shaffer syndrome. An important gene associated with Exostoses, Multiple, Type Ii is EXT2 (Exostosin Glycosyltransferase 2). The drugs Vaccines and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and liver, and related phenotypes are short stature and genu valgum

OMIM : 56 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)

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 40)
# Related Disease Score Top Affiliating Genes
1 hereditary multiple exostoses 12.2
2 potocki-shaffer syndrome 12.1
3 exostoses, multiple, type i 12.0
4 hereditary multiple osteochondromas 12.0
5 osteochondroma 12.0
6 seizures, scoliosis, and macrocephaly/microcephaly syndrome 11.8
7 exostosis 11.8
8 chondrosarcoma 11.7
9 bone disease 11.7
10 scoliosis 11.6
11 parietal foramina 11.4
12 dysostosis 11.2
13 dysplasia epiphysealis hemimelica 11.1
14 trichorhinophalangeal syndrome, type ii 11.1
15 motion sickness 11.1
16 enchondromatosis, multiple, ollier type 11.1
17 multiple enchondromatosis, maffucci type 11.1
18 bone remodeling disease 11.1
19 nodular malignant melanoma 11.1
20 hyperostosis 11.1
21 juxtacortical chondroma 11.1
22 breast pericanalicular fibroadenoma 11.1
23 localized chondrosarcoma 11.1
24 juxtacortical chondrosarcoma 11.1
25 clear cell chondrosarcoma 11.1
26 acral lentiginous melanoma 11.1
27 periosteal osteogenic sarcoma 11.1
28 inherited cancer-predisposing syndrome 11.1
29 exostoses, multiple, type iii 10.5
30 hypotonia 10.2
31 hypertelorism 10.1
32 autism 10.1
33 acute insulin response 10.1
34 alacrima, achalasia, and mental retardation syndrome 10.1
35 brachydactyly 10.1
36 microcephaly 10.1
37 visual epilepsy 10.1
38 epilepsy 10.1
39 skeletal dysplasias 10.1
40 seizure disorder 10.1

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 short metacarpal 31 HP:0010049
4 chondrosarcoma 31 HP:0006765
5 coxa vara 31 HP:0002812
6 rib exostoses 31 HP:0000896
7 peripheral nerve compression 31 HP:0003406
8 pelvic bone exostoses 31 HP:0003276
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:

56
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

Drugs & Therapeutics for Exostoses, Multiple, Type Ii

Drugs for Exostoses, Multiple, Type Ii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 3
2 Immunologic Factors Phase 3
3 Phosphodiesterase 4 Inhibitors Phase 2
4 Phosphodiesterase Inhibitors Phase 2
5 MK 0873 Phase 2
6 Cholinergic Antagonists Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Investigational Vaccine in Reducing the Incidence of Anogenital Warts in Young Men Completed NCT00090285 Phase 3
2 Safety, Immunogenicity, and Efficacy of Gardasil (V501 (Human Papilloma Virus [Types 6, 11, 16, 18] Recombinant Vaccine) in Mid-Adult Women - The FUTURE III (Females United to Unilaterally Reduce Endo/Ectocervical Cancer) Study Completed NCT00090220 Phase 3
3 A Phase III Clinical Trial to Study the Immunogenicity, Tolerability, and Manufacturing Consistency of V503 (A Multivalent Human Papillomavirus [HPV] L1 Virus-Like Particle [VLP] Vaccine) in Preadolescents and Adolescents (9 to 15 Year Olds) With a Comparison to Young Women (16 to 26 Year Olds) Active, not recruiting NCT00943722 Phase 3
4 A Double-Blind, Randomized, Placebo-Controlled, Multicenter, Parallel-Group, Dose-Ranging Study of MK-0873 in Patients With COPD Terminated NCT00132730 Phase 2 MK-0873 2.5 mg;MK-0873 1.25 mg;MK-0873 0.75 mg;Placebo to MK-0873;Usual Care

Search 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

Anatomical Context for Exostoses, Multiple, Type Ii

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

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

Publications for Exostoses, Multiple, Type Ii

Articles related to Exostoses, Multiple, Type Ii:

(show top 50) (show all 316)
# Title Authors PMID Year
1
New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas. 61 56 6
19344451 2009
2
Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. 61 56 6
10679937 2000
3
Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. 61 56 6
9326317 1997
4
The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes. 61 56 6
8782816 1996
5
Novel exostosin-2 missense variants in a family with autosomal recessive exostosin-2-related syndrome: further evidences on the phenotype. 61 6
30288735 2019
6
Genotype-phenotype correlation in hereditary multiple exostoses. 61 56
11432960 2001
7
Hereditary Multiple Osteochondromas 61 6
20301413 2000
8
Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. 61 56
9463333 1998
9
Positional cloning of a gene involved in hereditary multiple exostoses. 61 56
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 56
8882796 1996
11
Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11. 61 56
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. 61 56
7726168 1995
13
The genotype-phenotype correlation of hereditary multiple exostoses. 56
16879194 2006
14
Hereditary multiple exostoses: confirmation of linkage to chromosomes 8 and 11. 56
8882395 1996
15
WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2). 56
8558565 1995
16
Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11. 56
8162019 1994
17
Genetic heterogeneity in families with hereditary multiple exostoses. 56
8317501 1993
18
The effect of stereoisomerism on the 4D-QSAR study of some dipeptidyl boron derivatives. 61
31918171 2020
19
Glomerular permeability is not affected by heparan sulfate glycosaminoglycan deficiency in zebrafish embryos. 61
31461353 2019
20
A family with limb girdle muscular dystrophy type 1B and multiple exostoses. 61
31296281 2019
21
[Identification of pathogenic variations in two Chinese pedigrees affected with hereditary multiple exostosis]. 61
31400121 2019
22
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants. 61
30806661 2019
23
Exostosin 1/Exostosin 2-Associated Membranous Nephropathy. 61
31061139 2019
24
[Analysis of EXT1 and EXT2 gene mutations in two Chinese pedigrees affected with hereditary multiple exostosis]. 61
31030431 2019
25
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
26
Identification of a novel mutation in EXT2 in a fourth-generation Korean family with multiple osteochondromas and overview of mutation spectrum. 61
30730578 2019
27
Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants. 61
30997052 2019
28
A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2). 61
30075207 2019
29
A Novel EXT1 Mutation Identified in a Family with Multiple Osteochondromas. 61
29989442 2019
30
A novel splice mutation induces exon skipping of the EXT1 gene in patients with hereditary multiple exostoses. 61
30664192 2019
31
RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas. 61
30632316 2019
32
De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies. 61
30487643 2019
33
Biological background of the genomic variations of cf-DNA in healthy individuals. 61
30475948 2019
34
Establishment of a Nomogram by Integrating Molecular Markers and Tumor-Node-Metastasis Staging System for Predicting the Prognosis of Hepatocellular Carcinoma. 61
30481744 2019
35
Abnormal sodium and water homeostasis in mice with defective heparan sulfate polymerization. 61
31365577 2019
36
Hereditary Multiple Exostoses: Current Insights. 61
31853203 2019
37
Structural Features of Heparan Sulfate from Multiple Osteochondromas and Chondrosarcomas. 61
30544937 2018
38
The role of EXT1 gene mutation and its high expression of calcitonin gene-related peptide in the development of multiple exostosis. 61
30262140 2018
39
Heterogeneous spectrum of EXT gene mutations in Chinese patients with hereditary multiple osteochondromas. 61
30334991 2018
40
The pathogenic roles of heparan sulfate deficiency in hereditary multiple exostoses. 61
29277722 2018
41
A novel EXT2 frameshift mutation identified in a family with multiple osteochondromas. 61
30250583 2018
42
Multiple Hereditary Exostoses: Report of an EXT2 Gene Mutation in a Colombian Family. 61
30105120 2018
43
The exostosin family of glycosyltransferases: mRNA expression profiles and heparan sulphate structure in human breast carcinoma cell lines. 61
30054430 2018
44
Specific glycosaminoglycan chain length and sulfation patterns are required for cell uptake of tau versus α-synuclein and β-amyloid aggregates. 61
29752409 2018
45
Signaling systems affecting the severity of multiple osteochondromas. 61
29545125 2018
46
A de novo mutation in the EXT2 gene associated with osteochondromatosis in a litter of American Staffordshire Terriers. 61
29485212 2018
47
Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas. 61
29529714 2018
48
Palovarotene Inhibits Osteochondroma Formation in a Mouse Model of Multiple Hereditary Exostoses. 61
29120519 2018
49
Exostosin-like 2 regulates FGF2 signaling by controlling the endocytosis of FGF2. 61
29305908 2018
50
Novel exostosin-2 mutation identified in a Chinese family with hereditary multiple osteochondroma. 61
29541207 2018

Variations for Exostoses, Multiple, Type Ii

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

6 (show all 50) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EXT2 NM_000401.3(EXT2):c.549_552CTGT[1] (p.Val187fs)short repeat Pathogenic 2471 rs864309636 11:44129712-44129715 11:44108162-44108165
2 EXT2 NM_000401.3(EXT2):c.613C>T (p.Gln205Ter)SNV Pathogenic 2472 rs121918279 11:44129776-44129776 11:44108226-44108226
3 EXT2 NM_000401.3(EXT2):c.1404+1G>ASNV Pathogenic 2473 rs864309637 11:44193293-44193293 11:44171743-44171743
4 EXT2 NM_000401.3(EXT2):c.778G>A (p.Asp260Asn)SNV Pathogenic 2474 rs121918280 11:44135787-44135787 11:44114237-44114237
5 EXT2 NM_000401.3(EXT2):c.765C>G (p.Tyr255Ter)SNV Pathogenic 2475 rs121918281 11:44135774-44135774 11:44114224-44114224
6 EXT2 NM_000401.3(EXT2):c.871C>T (p.Gln291Ter)SNV Pathogenic 2476 rs267606786 11:44146367-44146367 11:44124817-44124817
7 EXT2 NM_000401.3(EXT2):c.843-2A>CSNV Pathogenic 2477 rs864309638 11:44146337-44146337 11:44124787-44124787
8 EXT2 NM_000401.3(EXT2):c.643C>T (p.Arg215Ter)SNV Pathogenic 265133 rs886039358 11:44130751-44130751 11:44109201-44109201
9 EXT2 NM_000401.3(EXT2):c.1036C>T (p.Gln346Ter)SNV Pathogenic 265134 rs763718818 11:44146532-44146532 11:44124982-44124982
10 EXT2 NM_000401.3(EXT2):c.497_500dup (p.Met168fs)duplication Pathogenic 279944 rs886041272 11:44129659-44129660 11:44108109-44108110
11 EXT2 NM_000401.3(EXT2):c.1005_1006dup (p.His336fs)duplication Pathogenic 279805 rs886041199 11:44146500-44146501 11:44124950-44124951
12 EXT2 NM_000401.3(EXT2):c.344dup (p.Asp115fs)duplication Pathogenic 449018 rs1555002460 11:44129506-44129507 11:44107956-44107957
13 EXT2 NC_000011.9:g.(?_44228323)_(44228529_?)deldeletion Pathogenic 465696 11:44228323-44228529 11:44206773-44206979
14 EXT2 deletion Pathogenic 465695 11:44171591-44171762
15 EXT2 NM_000401.3(EXT2):c.343del (p.Asp115fs)deletion Pathogenic 465699 rs1555002457 11:44129501-44129501 11:44107951-44107951
16 EXT2 NM_000401.3(EXT2):c.528C>A (p.Tyr176Ter)SNV Pathogenic 465701 rs1555002543 11:44129691-44129691 11:44108141-44108141
17 EXT2 NC_000011.9:g.(?_44165777)_(44219588_?)deldeletion Pathogenic 534141 11:44165777-44219588 11:44144227-44198038
18 EXT2 NM_000401.3(EXT2):c.1173G>A (p.Trp391Ter)SNV Pathogenic 534139 rs1450980907 11:44148500-44148500 11:44126950-44126950
19 EXT2 NM_000401.3(EXT2):c.166C>T (p.Arg56Ter)SNV Pathogenic 534138 rs754533434 11:44129329-44129329 11:44107779-44107779
20 EXT2 NM_000401.3(EXT2):c.1231C>T (p.Gln411Ter)SNV Pathogenic 534140 rs1555006433 11:44151647-44151647 11:44130097-44130097
21 EXT2 NM_000401.3(EXT2):c.1027C>T (p.Gln343Ter)SNV Pathogenic 534137 rs1555005398 11:44146523-44146523 11:44124973-44124973
22 EXT2 NC_000011.9:g.(?_44129213)_(44151708_?)deldeletion Pathogenic 583463 11:44129213-44151708 11:44107663-44130158
23 EXT2 NM_000401.3(EXT2):c.459_460CT[1] (p.Ser154fs)short repeat Pathogenic 581984 rs1565196489 11:44129621-44129622 11:44108071-44108072
24 EXT2 NM_000401.3(EXT2):c.1272+2T>ASNV Pathogenic 578983 rs1565205890 11:44151690-44151690 11:44130140-44130140
25 EXT2 NC_000011.9:g.(?_44228343)_(44228509_?)deldeletion Pathogenic 584248 11:44228343-44228509 11:44206793-44206959
26 EXT2 NM_000401.3(EXT2):c.1178+1G>ASNV Pathogenic 569134 rs1369420640 11:44148506-44148506 11:44126956-44126956
27 EXT2 NM_000401.3(EXT2):c.769C>T (p.Gln257Ter)SNV Pathogenic 568961 rs1565199251 11:44135778-44135778 11:44114228-44114228
28 EXT2 NM_000401.3(EXT2):c.1839G>A (p.Trp613Ter)SNV Pathogenic 572306 rs1564986609 11:44253980-44253980 11:44232430-44232430
29 EXT2 NM_000401.3(EXT2):c.1286G>A (p.Trp429Ter)SNV Pathogenic 655909 11:44193174-44193174 11:44171624-44171624
30 EXT2 NM_207122.2(EXT2):c.1189dup (p.Glu397fs)duplication Pathogenic 661841 11:44193173-44193174 11:44171623-44171624
31 EXT2 NM_207122.2(EXT2):c.1627dup (p.Met543fs)duplication Pathogenic 660873 11:44228473-44228474 11:44206923-44206924
32 EXT2 NM_207122.2(EXT2):c.1032del (p.Ile344fs)deletion Pathogenic 666014 11:44148457-44148457 11:44126907-44126907
33 EXT2 NM_207122.2(EXT2):c.590del (p.Pro197fs)deletion Pathogenic 657872 11:44130793-44130793 11:44109243-44109243
34 EXT2 NM_000401.3(EXT2):c.767G>C (p.Arg256Pro)SNV Pathogenic 649849 11:44135776-44135776 11:44114226-44114226
35 EXT2 NM_000401.3(EXT2):c.1051_1052TG[2] (p.Val352fs)short repeat Pathogenic 640236 11:44148378-44148379 11:44126828-44126829
36 EXT2 NM_207122.1(EXT2):c.861_1173+5287deldeletion Pathogenic 662037 11:44124906-44135425
37 EXT2 NM_207122.2(EXT2):c.238del (p.Arg80fs)deletion Likely pathogenic 623133 rs1565196333 11:44129500-44129500 11:44107950-44107950
38 EXT2 NM_000401.3(EXT2):c.1492C>T (p.Arg498Ter)SNV Conflicting interpretations of pathogenicity 580003 rs772690312 11:44219466-44219466 11:44197916-44197916
39 EXT2 NM_000401.3(EXT2):c.1186G>A (p.Val396Met)SNV Conflicting interpretations of pathogenicity 304586 rs138943091 11:44151602-44151602 11:44130052-44130052
40 EXT2 NM_000401.3(EXT2):c.359T>G (p.Met120Arg)SNV Conflicting interpretations of pathogenicity 134211 rs140075817 11:44129522-44129522 11:44107972-44107972
41 EXT2 NM_000401.3(EXT2):c.1859C>T (p.Thr620Met)SNV Conflicting interpretations of pathogenicity 134204 rs138495222 11:44254000-44254000 11:44232450-44232450
42 EXT2 NM_000401.3(EXT2):c.2015C>T (p.Thr672Met)SNV Uncertain significance 134205 rs138722406 11:44255774-44255774 11:44234224-44234224
43 EXT2 NM_000401.3(EXT2):c.1121C>T (p.Pro374Leu)SNV Uncertain significance 134215 rs141035971 11:44148448-44148448 11:44126898-44126898
44 EXT2 NM_000401.3(EXT2):c.670A>G (p.Met224Val)SNV Uncertain significance 638379 11:44130778-44130778 11:44109228-44109228
45 EXT2 NM_000401.3(EXT2):c.652_657del (p.Asn218_His219del)deletion Uncertain significance 534136 rs761364688 11:44130760-44130765 11:44109210-44109215
46 EXT2 NM_000401.3(EXT2):c.1663C>T (p.Arg555Cys)SNV Uncertain significance 465697 rs145507609 11:44228411-44228411 11:44206861-44206861
47 EXT2 NM_000401.3(EXT2):c.755C>T (p.Thr252Met)SNV Uncertain significance 658032 11:44135764-44135764 11:44114214-44114214
48 EXT2 NM_000401.3(EXT2):c.809C>T (p.Ser270Leu)SNV Benign/Likely benign 134212 rs139525250 11:44135818-44135818 11:44114268-44114268
49 EXT2 NM_000401.3(EXT2):c.127C>A (p.Arg43=)SNV Benign 195445 rs4755228 11:44129290-44129290 11:44107740-44107740
50 EXT2 NM_000401.3(EXT2):c.1905+9deldeletion Benign 465698 rs372901342 11:44254051-44254051 11:44232501-44232501

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

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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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