Epiphyseal Dysplasia, Multiple, 5 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Epiphyseal Dysplasia, Multiple, 5

MalaCards integrated aliases for Epiphyseal Dysplasia, Multiple, 5:

Name: Epiphyseal Dysplasia, Multiple, 5 ⁵⁷ ¹³ ⁴⁴ ⁷³

Multiple Epiphyseal Dysplasia 5 ¹² ⁵³ ⁷⁵ ²⁹ ⁶ ¹⁵

Edm5 ⁵⁷ ¹² ⁵³ ⁵⁹ ⁷⁵

Bhmed ⁵⁷ ¹² ⁵⁹

Microepiphyseal Dysplasia, Bilateral Hereditary; Bhmed ⁵⁷

Microepiphyseal Dysplasia, Bilateral Hereditary ⁵⁷

Bilateral Hereditary Micro-Epiphyseal Dysplasia ⁵⁹

Bilateral Hereditary Microepiphyseal Dysplasia ¹²

Multiple Epiphyseal Dysplasia, Matn3-Related ⁵⁷

Multiple Epiphyseal Dysplasia, Matn3 Related ⁵³

Multiple Epiphyseal Dysplasia Matn3-Related ¹²

Dysplasia, Epiphyseal, Multiple, Type 5 ⁴⁰

Multiple Epiphyseal Dysplasia Type 5 ⁵⁹

Epiphyseal Dysplasia Multiple 5 ⁵³

Polyepiphyseal Dysplasia Type 5 ⁵⁹

Med5 ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

multiple epiphyseal dysplasia type 5
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see edm1 )
allelic to spondyloepimetaphyseal dysplasia, matn-3 related
allelic to hand osteoarthritis

HPO:

³²

epiphyseal dysplasia, multiple, 5:
Inheritance heterogeneous autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Osteochondrodysplasia with defects of growth of tubular bones and spine

Chondrodysplasia punctata

Orphanet: ⁵⁹

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 607078

Disease Ontology ¹² DOID:0070299

MeSH ⁴⁴ C535505 D010009

Orphanet ⁵⁹ ORPHA93311

UMLS via Orphanet ⁷⁴ C1846843

ICD10 via Orphanet ³⁴ Q77.3

MESH via Orphanet ⁴⁵ C535505

MedGen ⁴² C1846843

SNOMED-CT via HPO ⁶⁹ 263681008 22325002 48334007 more

UMLS ⁷³ C1846843

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Summaries for Epiphyseal Dysplasia, Multiple, 5

UniProtKB/Swiss-Prot : ⁷⁵ Multiple epiphyseal dysplasia 5: A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal. Multiple epiphyseal dysplasia type 5 is relatively mild and clinically variable. It is primarily characterized by delayed and irregular ossification of the epiphyses and early-onset osteoarthritis.

MalaCards based summary : Epiphyseal Dysplasia, Multiple, 5, also known as multiple epiphyseal dysplasia 5, is related to multiple epiphyseal dysplasia and med23, and has symptoms including hip pain and knee pain. An important gene associated with Epiphyseal Dysplasia, Multiple, 5 is MATN3 (Matrilin 3), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Focal Adhesion. Affiliated tissues include bone, and related phenotypes are osteoarthritis and genu valgum

Disease Ontology : ¹² A multiple epiphyseal dysplasia that has material basis in heterozygous mutation in the MATN3 gene on chromosome 2p24.

Description from OMIM: 607078

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Related Diseases for Epiphyseal Dysplasia, Multiple, 5

Diseases in the Multiple Epiphyseal Dysplasia family:

Epiphyseal Dysplasia, Multiple, 1	Epiphyseal Dysplasia, Multiple, 4
Epiphyseal Dysplasia, Multiple, 2	Epiphyseal Dysplasia, Multiple, 3
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal Dysplasia, Multiple, 6
Epiphyseal Dysplasia, Multiple, 7	Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly
Multiple Epiphyseal Dysplasia, Autosomal Dominant	Multiple Epiphyseal Dysplasia, Recessive

Diseases related to Epiphyseal Dysplasia, Multiple, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)

#	Related Disease	Score	Top Affiliating Genes
1	multiple epiphyseal dysplasia	31.3	COL9A2 COL9A3 COMP MATN3 SLC26A2
2	med23	10.1
3	multiple epiphyseal dysplasia due to collagen 9 anomaly	10.0	COL9A2 COL9A3
4	autosomal recessive stickler syndrome	10.0	COL9A2 COL9A3
5	stickler syndrome	10.0	COL9A2 COL9A3
6	bone deterioration disease	10.0	COL9A2 COL9A3
7	spinal stenosis	10.0	COL9A2 COL9A3
8	achondrogenesis	10.0	COL9A2 SLC26A2
9	atelosteogenesis	9.9	COL9A2 SLC26A2
10	bone structure disease	9.9	COL9A2 COL9A3
11	skeletal dysplasias	9.9	COMP MATN3
12	metaphyseal chondrodysplasia, schmid type	9.9	COMP MATN3
13	intervertebral disc disease	9.9	COL9A2 COL9A3
14	diastrophic dysplasia	9.8	COMP SLC26A2
15	spondyloepiphyseal dysplasia congenita	9.8	COMP SLC26A2
16	epiphyseal dysplasia, multiple, 2	9.7	COL9A2 COL9A3 COMP
17	osteoarthritis	9.7	COMP MATN3
18	epiphyseal dysplasia, multiple, 4	9.7	COL9A2 COL9A3 MATN3 SLC26A2
19	epiphyseal dysplasia, multiple, 3	9.6	COL9A2 COL9A3 COMP MATN3
20	osteochondritis dissecans	9.6	COL9A2 COL9A3 COMP MATN3
21	bone development disease	9.5	COL9A2 COMP MATN3 SLC26A2
22	epiphyseal dysplasia, multiple, 1	9.4	COL9A2 COL9A3 COMP MATN3 SLC26A2
23	pseudoachondroplasia	9.4	COL9A2 COL9A3 COMP MATN3 SLC26A2

Graphical network of the top 20 diseases related to Epiphyseal Dysplasia, Multiple, 5:

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Symptoms & Phenotypes for Epiphyseal Dysplasia, Multiple, 5

Symptoms via clinical synopsis from OMIM:

⁵⁷

Skeletal Pelvis:
coxa vara
broad, short femoral neck
small proximal femoral epiphyses
arthralgia (hip)
high greater trochanter

Growth Height:
normal stature

Skeletal Hands:
delayed carpal ossification
small, irregular epiphyses (first metacarpal)

Skeletal:
multiple epiphyseal dysplasia
early onset osteoarthritis

Skeletal Limbs:
genua valga
small, irregular epiphyses (distal femoral, proximal tibiae, distal radii, distal ulnae)
mild metaphyseal irregularities (distal femoral, proximal tibiae, proximal humeri, distal radii, distal ulnae)
arthralgias (knees)
submetaphyseal vertical striations

Skeletal Feet:
delayed tarsal ossification

Clinical features from OMIM:

607078

Human phenotypes related to Epiphyseal Dysplasia, Multiple, 5:

⁵⁹ ³² (show all 21)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	osteoarthritis ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002758
2	genu valgum ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002857
3	gait disturbance ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001288
4	hip dysplasia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001385
5	joint stiffness ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001387
6	arthralgia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002829
7	epiphyseal dysplasia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002656
8	genu varum ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002970
9	limitation of joint mobility ⁵⁹		Frequent (79-30%)
10	coxa vara ³²			HP:0002812
11	multiple epiphyseal dysplasia ³²			HP:0002654
12	small epiphyses ³²			HP:0010585
13	irregular epiphyses ³²			HP:0010582
14	broad femoral neck ³²			HP:0006429
15	short femoral neck ³²			HP:0100864
16	arthralgia of the hip ³²			HP:0003365
17	metaphyseal irregularity ³²			HP:0003025
18	hypoplasia of the capital femoral epiphysis ³²			HP:0003090
19	premature osteoarthritis ³²			HP:0003088
20	delayed tarsal ossification ³²			HP:0008103
21	delayed ossification of carpal bones ³²			HP:0001216

UMLS symptoms related to Epiphyseal Dysplasia, Multiple, 5:

hip pain, knee pain

MGI Mouse Phenotypes related to Epiphyseal Dysplasia, Multiple, 5:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	limbs/digits/tail	MP:0005371	8.92	COL9A2 COMP MATN3 SLC26A2

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Drugs & Therapeutics for Epiphyseal Dysplasia, Multiple, 5

Search Clinical Trials , NIH Clinical Center for Epiphyseal Dysplasia, Multiple, 5

Cochrane evidence based reviews: epiphyseal dysplasia, multiple, 5

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Genetic Tests for Epiphyseal Dysplasia, Multiple, 5

Genetic tests related to Epiphyseal Dysplasia, Multiple, 5:

#	Genetic test	Affiliating Genes
1	Multiple Epiphyseal Dysplasia 5 ²⁹	MATN3

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Anatomical Context for Epiphyseal Dysplasia, Multiple, 5

MalaCards organs/tissues related to Epiphyseal Dysplasia, Multiple, 5:

⁴¹

Bone

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Publications for Epiphyseal Dysplasia, Multiple, 5

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Genes for Epiphyseal Dysplasia, Multiple, 5

Genes related to Epiphyseal Dysplasia, Multiple, 5 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MATN3	Matrilin 3	Protein Coding	1667.4	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵	11479597 20301302 14729835 (more) 15948199 12884427 13849708
2	COL9A3	Collagen Type IX Alpha 3 Chain	Protein Coding	16.52	DISEASES inferred ¹⁵
3	COL9A2	Collagen Type IX Alpha 2 Chain	Protein Coding	16.31	DISEASES inferred ¹⁵
4	SLC26A2	Solute Carrier Family 26 Member 2	Protein Coding	15.82	DISEASES inferred ¹⁵
5	COMP	Cartilage Oligomeric Matrix Protein	Protein Coding	15.1	DISEASES inferred ¹⁵
6	VWF	Von Willebrand Factor	Protein Coding	13.7	DISEASES inferred ¹⁵

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Variations for Epiphyseal Dysplasia, Multiple, 5

UniProtKB/Swiss-Prot genetic disease variations for Epiphyseal Dysplasia, Multiple, 5:

⁷⁵ (show all 15)

#	Symbol	AA change	Variation ID	SNP ID
1	MATN3	p.Arg121Trp	VAR_013691	rs104893637
2	MATN3	p.Val194Asp	VAR_013692	rs104893645
3	MATN3	p.Thr120Met	VAR_019882	rs397515546
4	MATN3	p.Ala128Pro	VAR_019883	rs104893641
5	MATN3	p.Glu134Lys	VAR_019884
6	MATN3	p.Ile192Asn	VAR_019885
7	MATN3	p.Ala219Asp	VAR_019886	rs28939677
8	MATN3	p.Phe105Ser	VAR_020844
9	MATN3	p.Arg70His	VAR_054807	rs104893640
10	MATN3	p.Thr195Lys	VAR_054808
11	MATN3	p.Tyr218Asn	VAR_054809
12	MATN3	p.Ala173Asp	VAR_066831	rs779413744
13	MATN3	p.Arg209Pro	VAR_066832	rs749845872
14	MATN3	p.Lys231Asn	VAR_066833	rs773642745
15	MATN3	p.Val245Met	VAR_066834	rs182164052

ClinVar genetic disease variations for Epiphyseal Dysplasia, Multiple, 5:

⁶ (show all 12)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	MATN3	NM_002381.4(MATN3): c.581T> A (p.Val194Asp)	single nucleotide variant	Pathogenic	rs104893645	GRCh37	Chromosome 2, 20205714: 20205714
2	MATN3	NM_002381.4(MATN3): c.581T> A (p.Val194Asp)	single nucleotide variant	Pathogenic	rs104893645	GRCh38	Chromosome 2, 20005953: 20005953
3	MATN3	NM_002381.4(MATN3): c.361C> T (p.Arg121Trp)	single nucleotide variant	Pathogenic	rs104893637	GRCh37	Chromosome 2, 20205934: 20205934
4	MATN3	NM_002381.4(MATN3): c.361C> T (p.Arg121Trp)	single nucleotide variant	Pathogenic	rs104893637	GRCh38	Chromosome 2, 20006173: 20006173
5	MATN3	NM_002381.4(MATN3): c.656C> A (p.Ala219Asp)	single nucleotide variant	Pathogenic	rs28939677	GRCh37	Chromosome 2, 20205639: 20205639
6	MATN3	NM_002381.4(MATN3): c.656C> A (p.Ala219Asp)	single nucleotide variant	Pathogenic	rs28939677	GRCh38	Chromosome 2, 20005878: 20005878
7	MATN3	NM_002381.4(MATN3): c.209G> A (p.Arg70His)	single nucleotide variant	Pathogenic	rs104893640	GRCh37	Chromosome 2, 20212184: 20212184
8	MATN3	NM_002381.4(MATN3): c.209G> A (p.Arg70His)	single nucleotide variant	Pathogenic	rs104893640	GRCh38	Chromosome 2, 20012423: 20012423
9	MATN3	NM_002381.4(MATN3): c.382G> C (p.Ala128Pro)	single nucleotide variant	Pathogenic	rs104893641	GRCh37	Chromosome 2, 20205913: 20205913
10	MATN3	NM_002381.4(MATN3): c.382G> C (p.Ala128Pro)	single nucleotide variant	Pathogenic	rs104893641	GRCh38	Chromosome 2, 20006152: 20006152
11	MATN3	NM_002381.4(MATN3): c.359C> T (p.Thr120Met)	single nucleotide variant	Pathogenic	rs397515546	GRCh37	Chromosome 2, 20205936: 20205936
12	MATN3	NM_002381.4(MATN3): c.359C> T (p.Thr120Met)	single nucleotide variant	Pathogenic	rs397515546	GRCh38	Chromosome 2, 20006175: 20006175

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Expression for Epiphyseal Dysplasia, Multiple, 5

Search GEO for disease gene expression data for Epiphyseal Dysplasia, Multiple, 5.

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Pathways for Epiphyseal Dysplasia, Multiple, 5

Pathways related to Epiphyseal Dysplasia, Multiple, 5 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	PI3K-Akt signaling pathway ³⁷ Show member pathways Human papillomavirus infection ³⁷	12.46	COL9A2 COL9A3 COMP VWF
2	Focal Adhesion ¹ ³⁷ Show member pathways HGF Pathway ⁶⁴ Integrin-mediated Cell Adhesion ¹	12.32	COL9A2 COL9A3 COMP VWF
3	Degradation of the extracellular matrix ⁶⁶ Show member pathways Collagen degradation ⁶⁶ Extracellular matrix organization ⁶⁶	12.11	COL9A2 COL9A3 COMP MATN3
4	ECM-receptor interaction ³⁷ Show member pathways Integrin cell surface interactions ⁶⁶	11.43	COL9A2 COL9A3 COMP VWF
5	NCAM1 interactions ⁶⁶	10.94	COL9A2 COL9A3
6	ECM proteoglycans ⁶⁶	10.68	COL9A2 COL9A3 COMP MATN3

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GO Terms for Epiphyseal Dysplasia, Multiple, 5

Cellular components related to Epiphyseal Dysplasia, Multiple, 5 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular space	GO:0005615	9.67	COL9A2 COL9A3 COMP MATN3
2	extracellular region	GO:0005576	9.65	COL9A2 COL9A3 COMP MATN3 VWF
3	endoplasmic reticulum lumen	GO:0005788	9.33	COL9A2 COL9A3 MATN3
4	collagen trimer	GO:0005581	9.32	COL9A2 COL9A3
5	extracellular matrix	GO:0031012	9.02	COL9A2 COL9A3 COMP MATN3 VWF
6	collagen type IX trimer	GO:0005594	8.96	COL9A2 COL9A3

Biological processes related to Epiphyseal Dysplasia, Multiple, 5 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	skeletal system development	GO:0001501	9.13	COL9A2 COMP MATN3
2	extracellular matrix organization	GO:0030198	9.02	COL9A2 COL9A3 COMP MATN3 VWF

Molecular functions related to Epiphyseal Dysplasia, Multiple, 5 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protease binding	GO:0002020	9.26	COMP VWF
2	collagen binding	GO:0005518	9.16	COMP VWF
3	extracellular matrix structural constituent	GO:0005201	9.02	COL9A2 COL9A3 COMP MATN3 VWF
4	extracellular matrix structural constituent conferring tensile strength	GO:0030020	8.96	COL9A2 COL9A3

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Sources for Epiphyseal Dysplasia, Multiple, 5

¹ BioSystems

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²⁷ GEO DataSets

²⁸ GO

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³³ ICD10

³⁴ ICD10 via Orphanet

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³⁹ LncRNADisease

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⁴¹ MalaCards

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⁴⁴ MeSH

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⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

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⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

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⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Epiphyseal Dysplasia, Multiple, 5 (EDM5)

Aliases & Classifications for Epiphyseal Dysplasia, Multiple, 5

MalaCards integrated aliases for Epiphyseal Dysplasia, Multiple, 5:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Epiphyseal Dysplasia, Multiple, 5

Related Diseases for Epiphyseal Dysplasia, Multiple, 5

Diseases in the Multiple Epiphyseal Dysplasia family:

Diseases related to Epiphyseal Dysplasia, Multiple, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Epiphyseal Dysplasia, Multiple, 5:

Symptoms & Phenotypes for Epiphyseal Dysplasia, Multiple, 5

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Epiphyseal Dysplasia, Multiple, 5:

UMLS symptoms related to Epiphyseal Dysplasia, Multiple, 5:

MGI Mouse Phenotypes related to Epiphyseal Dysplasia, Multiple, 5:

Drugs & Therapeutics for Epiphyseal Dysplasia, Multiple, 5

Cochrane evidence based reviews: epiphyseal dysplasia, multiple, 5

Genetic Tests for Epiphyseal Dysplasia, Multiple, 5

Genetic tests related to Epiphyseal Dysplasia, Multiple, 5:

Anatomical Context for Epiphyseal Dysplasia, Multiple, 5

MalaCards organs/tissues related to Epiphyseal Dysplasia, Multiple, 5:

Publications for Epiphyseal Dysplasia, Multiple, 5

Genes for Epiphyseal Dysplasia, Multiple, 5

Genes related to Epiphyseal Dysplasia, Multiple, 5 (1 elite genes):

Variations for Epiphyseal Dysplasia, Multiple, 5

UniProtKB/Swiss-Prot genetic disease variations for Epiphyseal Dysplasia, Multiple, 5:

ClinVar genetic disease variations for Epiphyseal Dysplasia, Multiple, 5:

Expression for Epiphyseal Dysplasia, Multiple, 5

Pathways for Epiphyseal Dysplasia, Multiple, 5

Pathways related to Epiphyseal Dysplasia, Multiple, 5 according to GeneCards Suite gene sharing:

GO Terms for Epiphyseal Dysplasia, Multiple, 5

Cellular components related to Epiphyseal Dysplasia, Multiple, 5 according to GeneCards Suite gene sharing:

Biological processes related to Epiphyseal Dysplasia, Multiple, 5 according to GeneCards Suite gene sharing:

Molecular functions related to Epiphyseal Dysplasia, Multiple, 5 according to GeneCards Suite gene sharing:

Sources for Epiphyseal Dysplasia, Multiple, 5