Spondyloepimetaphyseal Dysplasia with Joint Laxity disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: SPN448 MIFTS: 37	Spondyloepimetaphyseal Dysplasia with Joint Laxity Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Spondyloepimetaphyseal Dysplasia with Joint Laxity

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia with Joint Laxity:

Name: Spondyloepimetaphyseal Dysplasia with Joint Laxity ¹² ²⁰ ⁵⁸ ²⁹ ⁶

Semdjl ¹² ²⁰

Spondyloepimetaphyseal Dysplasia with Joint Laxity, Beighton Type ⁵⁸

Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 1 ⁵⁸

Dysplasia, Spondyloepimetaphyseal, with Joint Laxity ³⁹

Spondyloepimetaphyseal Dysplasia Joint Laxity ²⁰

Semdjl1 ⁵⁸

Semd-Jl ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

spondyloepimetaphyseal dysplasia with joint laxity
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: adolescent,infantile,late childhood,young Adult;

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases Fetal diseases Genetic diseases
Anatomical: Eye diseases Bone diseases Skin diseases Muscle diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Osteochondrodysplasia with defects of growth of tubular bones and spine

Spondyloepiphyseal dysplasia

Orphanet: ⁵⁸

Rare eye diseases

Rare bone diseases

Rare skin diseases

Inborn errors of metabolism

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0112197

ICD10 via Orphanet ³³ Q77.7

UMLS via Orphanet ⁷¹ C0432243

Orphanet ⁵⁸ ORPHA93359

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Summaries for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Disease Ontology : ¹² A spondyloepimetaphyseal dysplasia characterized by spinal abnormalities and gross articular hypermobility.

MalaCards based summary : Spondyloepimetaphyseal Dysplasia with Joint Laxity, also known as semdjl, is related to ehlers-danlos syndrome and scoliosis. An important gene associated with Spondyloepimetaphyseal Dysplasia with Joint Laxity is B3GALT6 (Beta-1,3-Galactosyltransferase 6). Affiliated tissues include eye, bone and skin, and related phenotypes are scoliosis and kyphosis

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Related Diseases for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Diseases in the Spondyloepimetaphyseal Dysplasia with Joint Laxity family:

Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3

Diseases related to Spondyloepimetaphyseal Dysplasia with Joint Laxity via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)

#	Related Disease	Score	Top Affiliating Genes
1	ehlers-danlos syndrome	30.0	COL1A2 B3GALT6
2	scoliosis	29.4	MATN1 KIF22 EXOC6B COL1A2
3	spondyloepimetaphyseal dysplasia	29.2	NIN MATN1 KIF22 EXOC6B COL1A2 B3GALT6
4	spondyloepimetaphyseal dysplasia with joint laxity, type 2	12.1
5	spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	12.1
6	spondyloepimetaphyseal dysplasia with joint laxity, type 3	12.0
7	spondyloepimetaphyseal dysplasia with multiple dislocations	10.5
8	dwarfism	10.5
9	alacrima, achalasia, and mental retardation syndrome	10.4
10	larsen syndrome	10.2
11	renal hypodysplasia/aplasia 1	10.2
12	pierre robin syndrome	10.2
13	isolated growth hormone deficiency, type ia	10.2
14	spondyloepimetaphyseal dysplasia, sponastrime type	10.2
15	seckel syndrome	10.2
16	brachydactyly	10.2
17	autosomal recessive disease	10.2
18	myopathy	10.2
19	hypermobile ehlers-danlos syndrome	10.2
20	hip subluxation	10.2
21	pectus carinatum	10.2
22	skeletal dysplasias	10.2
23	isolated pierre robin sequence	10.2
24	collagen disease	9.7	COL1A2 B3GALT6
25	idiopathic scoliosis	9.6	MATN1 COL1A2
26	odontochondrodysplasia	9.2	MATN1 KIF22 COL1A2 B3GALT6

Graphical network of the top 20 diseases related to Spondyloepimetaphyseal Dysplasia with Joint Laxity:

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Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Human phenotypes related to Spondyloepimetaphyseal Dysplasia with Joint Laxity:

⁵⁸ ³¹ (show all 32)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	scoliosis ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002650
2	kyphosis ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002808
3	short stature ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0004322
4	abnormality of the metaphysis ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000944
5	talipes equinovarus ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001762
6	long philtrum ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000343
7	platyspondyly ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000926
8	hip dislocation ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002827
9	joint hyperflexibility ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0005692
10	abnormality of epiphysis morphology ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0005930
11	proptosis ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000520
12	micromelia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002983
13	elbow dislocation ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003042
14	blue sclerae ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000592
15	hyperextensible skin ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000974
16	short foot ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001773
17	short palm ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0004279
18	abnormal bone ossification ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0011849
19	spondyloepimetaphyseal dysplasia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002651
20	short iliac bones ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0100866
21	high palate ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000218
22	hyperlordosis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003307
23	cleft palate ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000175
24	intellectual disability ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001249
25	global developmental delay ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001263
26	myopia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000545
27	ectopia lentis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001083
28	aganglionic megacolon ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002251
29	abnormal cardiac septum morphology ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001671
30	exostoses ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0100777
31	skeletal dysplasia ⁵⁸		Very frequent (99-80%)
32	joint dislocation ⁵⁸		Very frequent (99-80%)

GenomeRNAi Phenotypes related to Spondyloepimetaphyseal Dysplasia with Joint Laxity according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased HPV18 LCR reporter activity	GR00197-A-1	8.92	EXOC6B KIF22 NIN
2	Increased HPV18 LCR reporter activity	GR00197-A-3	8.92	KIF22

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Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Search Clinical Trials , NIH Clinical Center for Spondyloepimetaphyseal Dysplasia with Joint Laxity

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Genetic Tests for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Genetic tests related to Spondyloepimetaphyseal Dysplasia with Joint Laxity:

#	Genetic test	Affiliating Genes
1	Spondyloepimetaphyseal Dysplasia with Joint Laxity ²⁹

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Anatomical Context for Spondyloepimetaphyseal Dysplasia with Joint Laxity

MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia with Joint Laxity:

⁴⁰

Eye, Bone, Skin

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Publications for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Articles related to Spondyloepimetaphyseal Dysplasia with Joint Laxity:

(show all 23)

#	Title	Authors	PMID	Year
1	Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. ⁶ ⁶¹	Nakajima M...Ikegawa S	23664117	2013
2	Detecting genetic modifiers of spondyloepimetaphyseal dysplasia with joint laxity in the Caucasian Afrikaner community. ⁶¹	Chimusa ER...Ramesar RS	30358852	2019
3	A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some β3GalT6-pathy mutations. ⁶¹	Ben-Mahmoud A...Al-Gazali L	29443383	2018
4	Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings with B3GALT6 Mutations. ⁶¹	Trejo P...Campeau PM	29230159	2017
5	Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders. ⁶¹	Mizumoto S...Sugahara K	28346368	2017
6	Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type): A unique South African disorder. ⁶¹	Honey EM	27245527	2016
7	Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families. ⁶¹	Vorster AA...Ramesar RS	24766538	2015
8	Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation. ⁶¹	Tuysuz B...Gunel M	25256152	2015
9	Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations. ⁶¹	Ritelli M...Colombi M	28649518	2015
10	A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea. ⁶¹	Sellars EA...Schaefer GB	25149931	2014
11	Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype. ⁶¹	Grosch M...Tagariello A	23665482	2013
12	Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type. ⁶¹	Min BJ...Cho TJ	22152677	2011
13	Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity. ⁶¹	Boyden ED...Bonafe L	22152678	2011
14	A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients. ⁶¹	Kim OH...Unger S	19277648	2009
15	Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type: report of a case with normal face and literature review. ⁶¹	Sulko J...Kozlowski K	18841068	2008
16	Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL). ⁶¹	Tsirikos AI...Chang WN	12784311	2003
17	Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: clinical course and phenotypic variations in four patients. ⁶¹	Nishimura G...Ikegawa S	12567412	2003
18	Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): presentation in two unrelated patients in the United States. ⁶¹	Smith W...Pagon RA	10482874	1999
19	Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): a Brazilian case. ⁶¹	Pina-Neto JM...Jorge SM	8669438	1996
20	Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in three neonates. ⁶¹	Christianson AL...Beighton P	8897044	1996
21	Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): clinical and radiological findings in a Guatemalan patient. ⁶¹	Bradburn JM...Hall BD	8588592	1995
22	Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL). ⁶¹	Beighton P	8182720	1994
23	The ancestry of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in South Africa. ⁶¹	Torrington M...Beighton P	2036742	1991

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Genes for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Genes related to Spondyloepimetaphyseal Dysplasia with Joint Laxity (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	B3GALT6	Beta-1,3-Galactosyltransferase 6	Protein Coding	779.88	Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ GeneCards inferred via : Disorders Publications Variants (show sections)	23664117
2	EXOC6B	Exocyst Complex Component 6B	Protein Coding	367.1	Causative germline mutation ⁵⁸ GeneCards inferred via : Disorders Variants (show sections)	26669664 30284759
3	KIF22	Kinesin Family Member 22	Protein Coding	29.11	GeneCards inferred via : Disorders Publications Variants (show sections)
4	COL1A2	Collagen Type I Alpha 2 Chain	Protein Coding	7.61	GeneCards inferred via : Publications (show sections)
5	MATN1	Matrilin 1	Protein Coding	7.61	GeneCards inferred via : Publications (show sections)
6	NIN	Ninein	Protein Coding	7.61	GeneCards inferred via : Publications (show sections)

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Variations for Spondyloepimetaphyseal Dysplasia with Joint Laxity

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia with Joint Laxity:

⁶ (show all 48)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	B3GALT6	NM_080605.4(B3GALT6):c.1A>G (p.Met1Val)	SNV	Pathogenic	60484	rs786200938	GRCh37: 1:1167659-1167659 GRCh38: 1:1232279-1232279
2	B3GALT6	NM_080605.4(B3GALT6):c.694C>T (p.Arg232Cys)	SNV	Pathogenic	60485	rs397514717	GRCh37: 1:1168352-1168352 GRCh38: 1:1232972-1232972
3	B3GALT6	NM_080605.4(B3GALT6):c.466G>A (p.Asp156Asn)	SNV	Pathogenic	60486	rs397514718	GRCh37: 1:1168124-1168124 GRCh38: 1:1232744-1232744
4	B3GALT6	NM_080605.4(B3GALT6):c.193A>G (p.Ser65Gly)	SNV	Pathogenic	60488	rs397514719	GRCh37: 1:1167851-1167851 GRCh38: 1:1232471-1232471
5	B3GALT6	NM_080605.4(B3GALT6):c.200C>T (p.Pro67Leu)	SNV	Pathogenic	60489	rs397514720	GRCh37: 1:1167858-1167858 GRCh38: 1:1232478-1232478
6	B3GALT6	NM_080605.4(B3GALT6):c.556T>C (p.Phe186Leu)	SNV	Pathogenic	522415	rs1553151294	GRCh37: 1:1168214-1168214 GRCh38: 1:1232834-1232834
7	B3GALT6	NM_080605.4(B3GALT6):c.899G>C (p.Cys300Ser)	SNV	Pathogenic	60487	rs786200939	GRCh37: 1:1168557-1168557 GRCh38: 1:1233177-1233177
8	B3GALT6	NM_080605.4(B3GALT6):c.655G>A (p.Val219Met)	SNV	Uncertain significance	568476	rs1557526653	GRCh37: 1:1168313-1168313 GRCh38: 1:1232933-1232933
9	B3GALT6	NM_080605.4(B3GALT6):c.447C>G (p.Phe149Leu)	SNV	Uncertain significance	986387		GRCh37: 1:1168105-1168105 GRCh38: 1:1232725-1232725
10	B3GALT6	NM_080605.4(B3GALT6):c.588dup (p.Arg197fs)	Duplication	Uncertain significance	427130	rs533071750	GRCh37: 1:1168239-1168240 GRCh38: 1:1232859-1232860
11	B3GALT6	NM_080605.4(B3GALT6):c.110G>A (p.Gly37Glu)	SNV	Uncertain significance	800197	rs892958562	GRCh37: 1:1167768-1167768 GRCh38: 1:1232388-1232388
12	B3GALT6	NM_080605.4(B3GALT6):c.313G>C (p.Glu105Gln)	SNV	Uncertain significance	623665	rs1199531500	GRCh37: 1:1167971-1167971 GRCh38: 1:1232591-1232591
13	B3GALT6	NM_080605.4(B3GALT6):c.853G>A (p.Asp285Asn)	SNV	Uncertain significance	283597	rs201547600	GRCh37: 1:1168511-1168511 GRCh38: 1:1233131-1233131
14	B3GALT6	NM_080605.4(B3GALT6):c.529C>T (p.Arg177Cys)	SNV	Uncertain significance	1035363		GRCh37: 1:1168187-1168187 GRCh38: 1:1232807-1232807
15	B3GALT6	NM_080605.4(B3GALT6):c.538C>T (p.Arg180Cys)	SNV	Uncertain significance	1035382		GRCh37: 1:1168196-1168196 GRCh38: 1:1232816-1232816
16	B3GALT6	NM_080605.4(B3GALT6):c.655G>A (p.Val219Met)	SNV	Uncertain significance	568476	rs1557526653	GRCh37: 1:1168313-1168313 GRCh38: 1:1232933-1232933
17	B3GALT6	NM_080605.4(B3GALT6):c.77T>C (p.Leu26Pro)	SNV	Uncertain significance	498895	rs1553151166	GRCh37: 1:1167735-1167735 GRCh38: 1:1232355-1232355
18	B3GALT6	NM_080605.4(B3GALT6):c.664G>C (p.Ala222Pro)	SNV	Uncertain significance	1045942		GRCh37: 1:1168322-1168322 GRCh38: 1:1232942-1232942
19	B3GALT6	NM_080605.4(B3GALT6):c.341C>G (p.Ala114Gly)	SNV	Uncertain significance	1047491		GRCh37: 1:1167999-1167999 GRCh38: 1:1232619-1232619
20	B3GALT6	NM_080605.4(B3GALT6):c.795A>C (p.Glu265Asp)	SNV	Uncertain significance	838573		GRCh37: 1:1168453-1168453 GRCh38: 1:1233073-1233073
21	B3GALT6	NM_080605.4(B3GALT6):c.19_30dup (p.Ala7_Arg10dup)	Duplication	Uncertain significance	426491	rs1553151150	GRCh37: 1:1167669-1167670 GRCh38: 1:1232289-1232290
22	overlap with 3 genes	NC_000001.10:g.(?_1146915)_(1168668_?)dup	Duplication	Uncertain significance	656827		GRCh37: 1:1146915-1168668 GRCh38: 1:1211535-1233288
23	B3GALT6	NM_080605.4(B3GALT6):c.35C>G (p.Ala12Gly)	SNV	Uncertain significance	450501	rs900539403	GRCh37: 1:1167693-1167693 GRCh38: 1:1232313-1232313
24	overlap with 18 genes	NC_000001.11:g.(?_1013554)_(1313808_?)del	Deletion	Uncertain significance	832325		GRCh37: 1:948934-1249188 GRCh38:
25	B3GALT6	NM_080605.4(B3GALT6):c.526G>T (p.Ala176Ser)	SNV	Uncertain significance	955465		GRCh37: 1:1168184-1168184 GRCh38: 1:1232804-1232804
26	B3GALT6	NM_080605.4(B3GALT6):c.31C>T (p.Arg11Trp)	SNV	Uncertain significance	386485	rs1039242906	GRCh37: 1:1167689-1167689 GRCh38: 1:1232309-1232309
27	B3GALT6	NM_080605.4(B3GALT6):c.59C>G (p.Ala20Gly)	SNV	Uncertain significance	964346		GRCh37: 1:1167717-1167717 GRCh38: 1:1232337-1232337
28	B3GALT6	NM_080605.4(B3GALT6):c.446del (p.Phe149fs)	Deletion	Uncertain significance	541338	rs1553151257	GRCh37: 1:1168103-1168103 GRCh38: 1:1232723-1232723
29	B3GALT6	NM_080605.4(B3GALT6):c.341C>A (p.Ala114Glu)	SNV	Uncertain significance	661179	rs558454078	GRCh37: 1:1167999-1167999 GRCh38: 1:1232619-1232619
30	B3GALT6	NM_080605.4(B3GALT6):c.604G>A (p.Ala202Thr)	SNV	Uncertain significance	423210	rs377718922	GRCh37: 1:1168262-1168262 GRCh38: 1:1232882-1232882
31	B3GALT6	NM_080605.4(B3GALT6):c.446del (p.Phe149fs)	Deletion	Uncertain significance	541338	rs1553151257	GRCh37: 1:1168103-1168103 GRCh38: 1:1232723-1232723
32	B3GALT6	NM_080605.4(B3GALT6):c.149C>A (p.Pro50His)	SNV	Uncertain significance	1004515		GRCh37: 1:1167807-1167807 GRCh38: 1:1232427-1232427
33	B3GALT6	NM_080605.4(B3GALT6):c.609G>T (p.Trp203Cys)	SNV	Uncertain significance	1005617		GRCh37: 1:1168267-1168267 GRCh38: 1:1232887-1232887
34	overlap with 21 genes	NC_000001.10:g.(?_948954)_(1284445_?)dup	Duplication	Uncertain significance	1008424		GRCh37: 1:948954-1284445 GRCh38:
35	B3GALT6	NM_080605.4(B3GALT6):c.17G>A (p.Arg6Gln)	SNV	Uncertain significance	429685	rs1131691530	GRCh37: 1:1167675-1167675 GRCh38: 1:1232295-1232295
36	B3GALT6	NM_080605.4(B3GALT6):c.17G>A (p.Arg6Gln)	SNV	Uncertain significance	429685	rs1131691530	GRCh37: 1:1167675-1167675 GRCh38: 1:1232295-1232295
37	B3GALT6	NM_080605.4(B3GALT6):c.236C>G (p.Thr79Arg)	SNV	Uncertain significance	568475	rs1409554936	GRCh37: 1:1167894-1167894 GRCh38: 1:1232514-1232514
38	B3GALT6	NM_080605.4(B3GALT6):c.422C>T (p.Ala141Val)	SNV	Uncertain significance	1014335		GRCh37: 1:1168080-1168080 GRCh38: 1:1232700-1232700
39	B3GALT6	NM_080605.4(B3GALT6):c.22TGGCGGCGGCGGGCG[3] (p.8WRRRA[3])	Microsatellite	Uncertain significance	1014686		GRCh37: 1:1167669-1167670 GRCh38: 1:1232289-1232290
40	B3GALT6	NM_080605.4(B3GALT6):c.236C>G (p.Thr79Arg)	SNV	Uncertain significance	568475	rs1409554936	GRCh37: 1:1167894-1167894 GRCh38: 1:1232514-1232514
41	B3GALT6	NM_080605.4(B3GALT6):c.138C>T (p.Ser46=)	SNV	Likely benign	193478	rs190796582	GRCh37: 1:1167796-1167796 GRCh38: 1:1232416-1232416
42	B3GALT6	NM_080605.4(B3GALT6):c.515C>T (p.Ala172Val)	SNV	Likely benign	373234	rs200646244	GRCh37: 1:1168173-1168173 GRCh38: 1:1232793-1232793
43	B3GALT6	NM_080605.4(B3GALT6):c.753G>A (p.Pro251=)	SNV	Likely benign	283369	rs370328225	GRCh37: 1:1168411-1168411 GRCh38: 1:1233031-1233031
44	B3GALT6	NM_080605.4(B3GALT6):c.483G>A (p.Ala161=)	SNV	Benign	679473	rs373668725	GRCh37: 1:1168141-1168141 GRCh38: 1:1232761-1232761
45	B3GALT6	NM_080605.4(B3GALT6):c.457C>A (p.Leu153Ile)	SNV	Benign	390636	rs142820961	GRCh37: 1:1168115-1168115 GRCh38: 1:1232735-1232735
46	B3GALT6	NM_080605.4(B3GALT6):c.109G>A (p.Gly37Arg)	SNV	Benign	800256	rs867336520	GRCh37: 1:1167767-1167767 GRCh38: 1:1232387-1232387
47	B3GALT6	NM_080605.4(B3GALT6):c.22_36dup (p.Trp8_Ala12dup)	Duplication	Benign	450224	rs1553151151	GRCh37: 1:1167669-1167670 GRCh38: 1:1232289-1232290
48	B3GALT6	NM_080605.4(B3GALT6):c.388G>A (p.Glu130Lys)	SNV	Benign	582960	rs777778007	GRCh37: 1:1168046-1168046 GRCh38: 1:1232666-1232666

Sources

Expression for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia with Joint Laxity.

Sources

Pathways for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Sources

GO Terms for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Cellular components related to Spondyloepimetaphyseal Dysplasia with Joint Laxity according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	mitotic spindle	GO:0072686	8.62	NIN KIF22

Molecular functions related to Spondyloepimetaphyseal Dysplasia with Joint Laxity according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular matrix structural constituent	GO:0005201	8.62	MATN1 COL1A2

Sources

Sources for Spondyloepimetaphyseal Dysplasia with Joint Laxity

¹ BioSystems

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³ CDC

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²⁴ GeneHancer via GeneCards

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²⁷ GEO DataSets

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³² ICD10

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³⁸ LncRNADisease

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⁴⁸ NCBI Bookshelf

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⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

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⁶⁵ Reactome

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia