MCID: EHL078
MIFTS: 44

Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1

Categories: Genetic diseases, Bone diseases, Skin diseases, Fetal diseases, Rare diseases, Ear diseases

Aliases & Classifications for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1

MalaCards integrated aliases for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1:

Name: Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 57
Nevo Syndrome 57 76 75 37 73
Ehlers-Danlos Syndrome, Type Vi 57 13 40
Eds Vi 57 75 55
Eds6 57 75
Ehlers-Danlos Syndrome, Type Via, Formerly; Eds6a, Formerly 57
Ehlers-Danlos Syndrome, Ocular-Scoliotic Type 57
Ehlers-Danlos Syndrome, Type Via, Formerly 57
Ehlers-Danlos Syndrome Oculoscoliotic Type 75
Ehlers-Danlos Syndrome Kyphoscoliotic Type 75
Ehlers-Danlos Syndrome, Type Vi; Eds6 57
Ehlers-Danlos Syndrome Type 6 73
Ehlers-Danlos Syndrome 6 75
Eds6a, Formerly 57
Edskscl1 57
Eds Via 75
Eds6a 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
ehlers-danlos syndrome, kyphoscoliotic type, 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1

OMIM : 57 The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. The major characteristics of kyphoscoliotic-type EDS are severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe (Beighton et al., 1998). Nevo syndrome, previously thought to be a distinct entity, is identical to EDS type VI (Voermans et al., 2009). (225400)

MalaCards based summary : Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1, also known as nevo syndrome, is related to ehlers-danlos syndrome, kyphoscoliotic type, 2 and plod1-related kyphoscoliotic ehlers-danlos syndrome. An important gene associated with Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 is PLOD1 (Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 1), and among its related pathways/superpathways are Lysine degradation and Collagen chain trimerization. The drugs Fingolimod Hydrochloride and Immunosuppressive Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and heart, and related phenotypes are bladder diverticulum and inguinal hernia

UniProtKB/Swiss-Prot : 75 Ehlers-Danlos syndrome 6: A connective tissue disorder characterized by generalized joint hypermobility, hyperextensible skin, atrophic cutaneous scars due to tissue fragility, progressive kyphoscoliosis already present at birth, ocular manifestations, arterial rupture, easy bruising, severe neonatal muscle hypotonia and delayed motor development.

Wikipedia : 76 Nevo Syndrome is a rare autosomal recessive disorder that usually begins during the later stages of... more...

Related Diseases for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1

Diseases in the Kyphoscoliotic Ehlers-Danlos Syndrome family:

Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome

Diseases related to Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, kyphoscoliotic type, 2 12.6
2 plod1-related kyphoscoliotic ehlers-danlos syndrome 11.7
3 kyphoscoliotic ehlers-danlos syndrome 11.4
4 brittle cornea syndrome 1 11.0
5 ehlers-danlos syndrome 10.8
6 brittle cornea syndrome 2 10.1
7 retinitis 10.1
8 meningitis 10.1
9 sotos syndrome 1 9.9
10 bruck syndrome 9.2 PLOD1 PLOD2
11 connective tissue disease 9.0 PLOD1 PLOD2

Graphical network of the top 20 diseases related to Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1:



Diseases related to Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1

Symptoms & Phenotypes for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
kyphosis
congenital scoliosis, progressive

Head And Neck Nose:
depressed nasal bridge

Head And Neck Eyes:
blindness
myopia
glaucoma
retinal detachment
microcornea
more
Skeletal Hands:
arachnodactyly

Prenatal Manifestations Movement:
decreased fetal movement

Prenatal Manifestations Delivery:
premature rupture of membranes

Muscle Soft Tissue:
hypotonia

Growth Other:
marfanoid habitus

Genitourinary Bladder:
bladder diverticula

Cardiovascular Heart:
cardiac failure (secondary to chest deformity)

Respiratory Lung:
recurrent episodes of pneumonia

Genitourinary External Genitalia Male:
inguinal hernia

Skeletal Feet:
pes planus
talipes equinovarus

Skeletal:
osteoporosis
joint laxity
recurrent joint dislocations

Abdomen Gastrointestinal:
gastrointestinal hemorrhage

Skin Nails Hair Skin:
hyperextensible skin
easy bruisability
molluscoid pseudotumors
soft thin skin
moderate scarring
more
Cardiovascular Vascular:
arterial rupture

Neurologic Central Nervous System:
delayed motor development

Growth Height:
normal to tall stature

Head And Neck Teeth:
tooth crowding

Respiratory:
decreased pulmonary function (secondary to chest deformity)
respiratory insufficiency (secondary to chest deformity)

Laboratory Abnormalities:
lysyl hydroxylase deficiency
decreased dermal hydroxylysine content


Clinical features from OMIM:

225400

Human phenotypes related to Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1:

32 (show all 40)
# Description HPO Frequency HPO Source Accession
1 bladder diverticulum 32 HP:0000015
2 inguinal hernia 32 HP:0000023
3 tall stature 32 HP:0000098
4 epicanthus 32 HP:0000286
5 microcornea 32 HP:0000482
6 glaucoma 32 HP:0000501
7 retinal detachment 32 HP:0000541
8 myopia 32 HP:0000545
9 keratoconus 32 HP:0000563
10 blue sclerae 32 HP:0000592
11 blindness 32 HP:0000618
12 dental crowding 32 HP:0000678
13 osteoporosis 32 HP:0000939
14 thin skin 32 HP:0000963
15 hyperextensible skin 32 HP:0000974
16 soft skin 32 HP:0000977
17 bruising susceptibility 32 HP:0000978
18 molluscoid pseudotumors 32 HP:0000993
19 arachnodactyly 32 HP:0001166
20 muscular hypotonia 32 HP:0001252
21 motor delay 32 HP:0001270
22 generalized hypotonia 32 HP:0001290
23 joint dislocation 32 HP:0001373
24 joint laxity 32 HP:0001388
25 disproportionate tall stature 32 HP:0001519
26 decreased fetal movement 32 HP:0001558
27 congestive heart failure 32 HP:0001635
28 talipes equinovarus 32 HP:0001762
29 pes planus 32 HP:0001763
30 premature rupture of membranes 32 HP:0001788
31 abnormality of metabolism/homeostasis 32 HP:0001939
32 respiratory insufficiency 32 HP:0002093
33 gastrointestinal hemorrhage 32 HP:0002239
34 kyphosis 32 HP:0002808
35 depressed nasal bridge 32 HP:0005280
36 decreased pulmonary function 32 HP:0005952
37 recurrent pneumonia 32 HP:0006532
38 palmoplantar cutis laxa 32 HP:0007517
39 progressive congenital scoliosis 32 HP:0008458
40 arterial rupture 32 HP:0025019

GenomeRNAi Phenotypes related to Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 according to GeneCards Suite gene sharing:

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.55 PLOD2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.55 PLOD2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-129 9.55 PLOD2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.55 PLOD2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.55 PLOD2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.55 PLOD2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.55 PLOD2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.55 PLOD2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.55 PLOD1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-201 9.55 PLOD1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.55 PLOD1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.55 PLOD1 PLOD2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.55 PLOD2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.55 PLOD1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.55 PLOD2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.55 PLOD1

Drugs & Therapeutics for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1

Drugs for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Fingolimod Hydrochloride Phase 4
2 Immunosuppressive Agents Phase 4
3
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
4
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Not Applicable 83-88-5 493570
5 Dermatologic Agents Not Applicable
6 Micronutrients Not Applicable
7 Photosensitizing Agents Not Applicable
8 Trace Elements Not Applicable
9 Vitamin B Complex Not Applicable
10 Vitamins Not Applicable
11 Folate Nutraceutical Not Applicable
12 Vitamin B2 Nutraceutical Not Applicable
13 Vitamin B9 Nutraceutical Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Long-term Follow-up of Fingolimod Phase II Study Patients Completed NCT02307838 Phase 4
2 Riboflavin Corneal Crosslinking for Brittle Cornea Syndrome and Ehlers-Danlos Syndrome Type VI Unknown status NCT01307527 Not Applicable Riboflavin
3 The Impact of Exercise Training on Living Quality in Multiple Sclerosis Individuals Completed NCT03222596 Not Applicable

Search NIH Clinical Center for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1

Genetic Tests for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1

Anatomical Context for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1

MalaCards organs/tissues related to Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1:

41
Skin, Testes, Heart

Publications for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1

Articles related to Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1:

# Title Authors Year
1
Nevo syndrome with an NSD1 deletion: a variant of Sotos syndrome? ( 16329110 )
2006
2
Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers- Danlos syndrome (EDS VIA). ( 15666309 )
2005
3
Nevo syndrome. ( 9508068 )
1998
4
Further delineation of Nevo syndrome. ( 9152832 )
1997
5
Nevo syndrome. ( 8574422 )
1995

Variations for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1

UniProtKB/Swiss-Prot genetic disease variations for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1:

75
# Symbol AA change Variation ID SNP ID
1 PLOD1 p.Trp612Cys VAR_006355 rs121913553
2 PLOD1 p.Gly678Arg VAR_006356 rs121913551
3 PLOD1 p.Trp446Gly VAR_023466
4 PLOD1 p.Ala667Thr VAR_023467 rs199730384
5 PLOD1 p.His706Arg VAR_023468

ClinVar genetic disease variations for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1:

6
(show top 50) (show all 308)
# Gene Variation Type Significance SNP ID Assembly Location
1 PLOD1 NM_000302.3(PLOD1): c.955C> T (p.Arg319Ter) single nucleotide variant Pathogenic rs121913550 GRCh37 Chromosome 1, 12018684: 12018684
2 PLOD1 NM_000302.3(PLOD1): c.955C> T (p.Arg319Ter) single nucleotide variant Pathogenic rs121913550 GRCh38 Chromosome 1, 11958627: 11958627
3 PLOD1 NG_008159.1: g.(30134_30285)_(38781_39030)dup duplication Pathogenic GRCh38 Chromosome 1, 11959822: 11968718
4 PLOD1 NG_008159.1: g.(30134_30285)_(38781_39030)dup duplication Pathogenic GRCh37 Chromosome 1, 12019879: 12028775
5 PLOD1 NM_000302.3(PLOD1): c.2032G> A (p.Gly678Arg) single nucleotide variant Likely pathogenic rs121913551 GRCh37 Chromosome 1, 12034713: 12034713
6 PLOD1 NM_000302.3(PLOD1): c.2032G> A (p.Gly678Arg) single nucleotide variant Likely pathogenic rs121913551 GRCh38 Chromosome 1, 11974656: 11974656
7 PLOD1 NM_000302.3(PLOD1): c.1594_1596delGAG (p.Glu532del) deletion Pathogenic rs797044446 GRCh37 Chromosome 1, 12026317: 12026319
8 PLOD1 NM_000302.3(PLOD1): c.1594_1596delGAG (p.Glu532del) deletion Pathogenic rs797044446 GRCh38 Chromosome 1, 11966260: 11966262
9 PLOD1 NM_000302.3(PLOD1): c.1651-2delA deletion Pathogenic rs797044447 GRCh37 Chromosome 1, 12027042: 12027042
10 PLOD1 NM_000302.3(PLOD1): c.1651-2delA deletion Pathogenic rs797044447 GRCh38 Chromosome 1, 11966985: 11966985
11 PLOD1 NM_000302.3(PLOD1): c.1756_1902del deletion Pathogenic GRCh38 Chromosome 1, 11968235: 11971660
12 PLOD1 NM_000302.3(PLOD1): c.1756_1902del deletion Pathogenic GRCh37 Chromosome 1, 12028292: 12031717
13 PLOD1 NM_000302.3(PLOD1): c.1533C> G (p.Tyr511Ter) single nucleotide variant Pathogenic rs121913552 GRCh37 Chromosome 1, 12025599: 12025599
14 PLOD1 NM_000302.3(PLOD1): c.1533C> G (p.Tyr511Ter) single nucleotide variant Pathogenic rs121913552 GRCh38 Chromosome 1, 11965542: 11965542
15 PLOD1 NM_000302.3(PLOD1): c.579+1G> A single nucleotide variant Pathogenic rs797044448 GRCh37 Chromosome 1, 12012793: 12012793
16 PLOD1 NM_000302.3(PLOD1): c.579+1G> A single nucleotide variant Pathogenic rs797044448 GRCh38 Chromosome 1, 11952736: 11952736
17 PLOD1 NM_000302.3(PLOD1): c.1836G> C (p.Trp612Cys) single nucleotide variant Pathogenic rs121913553 GRCh37 Chromosome 1, 12030807: 12030807
18 PLOD1 NM_000302.3(PLOD1): c.1836G> C (p.Trp612Cys) single nucleotide variant Pathogenic rs121913553 GRCh38 Chromosome 1, 11970750: 11970750
19 PLOD1 NM_000302.3(PLOD1): c.2008C> T (p.Arg670Ter) single nucleotide variant Pathogenic rs121913554 GRCh37 Chromosome 1, 12033034: 12033034
20 PLOD1 NM_000302.3(PLOD1): c.2008C> T (p.Arg670Ter) single nucleotide variant Pathogenic rs121913554 GRCh38 Chromosome 1, 11972977: 11972977
21 PLOD1 NM_000302.3(PLOD1): c.295G> A (p.Ala99Thr) single nucleotide variant Benign rs7551175 GRCh37 Chromosome 1, 12009956: 12009956
22 PLOD1 NM_000302.3(PLOD1): c.295G> A (p.Ala99Thr) single nucleotide variant Benign rs7551175 GRCh38 Chromosome 1, 11949899: 11949899
23 PLOD1 NM_000302.3(PLOD1): c.136C> T (p.Arg46Cys) single nucleotide variant no interpretation for the single variant rs138698098 GRCh37 Chromosome 1, 12008092: 12008092
24 PLOD1 NM_000302.3(PLOD1): c.136C> T (p.Arg46Cys) single nucleotide variant no interpretation for the single variant rs138698098 GRCh38 Chromosome 1, 11948035: 11948035
25 PLOD1 NM_000302.3(PLOD1): c.2075C> T (p.Pro692Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs557317492 GRCh37 Chromosome 1, 12034756: 12034756
26 PLOD1 NM_000302.3(PLOD1): c.2075C> T (p.Pro692Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs557317492 GRCh38 Chromosome 1, 11974699: 11974699
27 PLOD1 NM_000302.3(PLOD1): c.294C> T (p.Phe98=) single nucleotide variant Benign rs7529452 GRCh37 Chromosome 1, 12009955: 12009955
28 PLOD1 NM_000302.3(PLOD1): c.294C> T (p.Phe98=) single nucleotide variant Benign rs7529452 GRCh38 Chromosome 1, 11949898: 11949898
29 PLOD1 NM_000302.3(PLOD1): c.358G> T (p.Ala120Ser) single nucleotide variant Benign rs2273285 GRCh37 Chromosome 1, 12010469: 12010469
30 PLOD1 NM_000302.3(PLOD1): c.358G> T (p.Ala120Ser) single nucleotide variant Benign rs2273285 GRCh38 Chromosome 1, 11950412: 11950412
31 PLOD1 NM_000302.3(PLOD1): c.1206C> T (p.Asn402=) single nucleotide variant Benign rs1130529 GRCh37 Chromosome 1, 12024235: 12024235
32 PLOD1 NM_000302.3(PLOD1): c.1206C> T (p.Asn402=) single nucleotide variant Benign rs1130529 GRCh38 Chromosome 1, 11964178: 11964178
33 PLOD1 NM_000302.3(PLOD1): c.1534C> T (p.Arg512Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs138490756 GRCh37 Chromosome 1, 12025600: 12025600
34 PLOD1 NM_000302.3(PLOD1): c.1534C> T (p.Arg512Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs138490756 GRCh38 Chromosome 1, 11965543: 11965543
35 PLOD1 NM_000302.3(PLOD1): c.1632A> C (p.Ala544=) single nucleotide variant Benign/Likely benign rs2230898 GRCh37 Chromosome 1, 12026355: 12026355
36 PLOD1 NM_000302.3(PLOD1): c.1632A> C (p.Ala544=) single nucleotide variant Benign/Likely benign rs2230898 GRCh38 Chromosome 1, 11966298: 11966298
37 PLOD1 NM_000302.3(PLOD1): c.30G> C (p.Leu10=) single nucleotide variant Likely benign rs886039113 GRCh37 Chromosome 1, 11994866: 11994866
38 PLOD1 NM_000302.3(PLOD1): c.30G> C (p.Leu10=) single nucleotide variant Likely benign rs886039113 GRCh38 Chromosome 1, 11934809: 11934809
39 PLOD1 NM_000302.3(PLOD1): c.177C> T (p.Gly59=) single nucleotide variant Benign/Likely benign rs34032489 GRCh38 Chromosome 1, 11949781: 11949781
40 PLOD1 NM_000302.3(PLOD1): c.177C> T (p.Gly59=) single nucleotide variant Benign/Likely benign rs34032489 GRCh37 Chromosome 1, 12009838: 12009838
41 PLOD1 NM_000302.3(PLOD1): c.250G> A (p.Ala84Thr) single nucleotide variant Benign/Likely benign rs34878020 GRCh37 Chromosome 1, 12009911: 12009911
42 PLOD1 NM_000302.3(PLOD1): c.250G> A (p.Ala84Thr) single nucleotide variant Benign/Likely benign rs34878020 GRCh38 Chromosome 1, 11949854: 11949854
43 PLOD1 NM_000302.3(PLOD1): c.555G> T (p.Lys185Asn) single nucleotide variant Benign/Likely benign rs142978362 GRCh38 Chromosome 1, 11952711: 11952711
44 PLOD1 NM_000302.3(PLOD1): c.555G> T (p.Lys185Asn) single nucleotide variant Benign/Likely benign rs142978362 GRCh37 Chromosome 1, 12012768: 12012768
45 PLOD1 NM_000302.3(PLOD1): c.1141G> A (p.Val381Met) single nucleotide variant Benign/Likely benign rs2230896 GRCh38 Chromosome 1, 11963575: 11963575
46 PLOD1 NM_000302.3(PLOD1): c.1141G> A (p.Val381Met) single nucleotide variant Benign/Likely benign rs2230896 GRCh37 Chromosome 1, 12023632: 12023632
47 PLOD1 NM_000302.3(PLOD1): c.804C> T (p.Thr268=) single nucleotide variant Conflicting interpretations of pathogenicity rs140758113 GRCh38 Chromosome 1, 11957904: 11957904
48 PLOD1 NM_000302.3(PLOD1): c.804C> T (p.Thr268=) single nucleotide variant Conflicting interpretations of pathogenicity rs140758113 GRCh37 Chromosome 1, 12017961: 12017961
49 PLOD1 NM_000302.3(PLOD1): c.1140C> T (p.Ser380=) single nucleotide variant Likely benign rs200131516 GRCh38 Chromosome 1, 11963574: 11963574
50 PLOD1 NM_000302.3(PLOD1): c.1140C> T (p.Ser380=) single nucleotide variant Likely benign rs200131516 GRCh37 Chromosome 1, 12023631: 12023631

Expression for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1

Search GEO for disease gene expression data for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1.

Pathways for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1

Pathways related to Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 according to KEGG:

37
# Name Kegg Source Accession
1 Lysine degradation hsa00310

GO Terms for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1

Cellular components related to Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 8.96 PLOD1 PLOD2
2 rough endoplasmic reticulum membrane GO:0030867 8.62 PLOD1 PLOD2

Biological processes related to Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.37 PLOD1 PLOD2
2 response to hypoxia GO:0001666 9.32 PLOD1 PLOD2
3 cellular protein modification process GO:0006464 9.26 PLOD1 PLOD2
4 protein O-linked glycosylation GO:0006493 9.16 PLOD1 PLOD2
5 peptidyl-lysine hydroxylation GO:0017185 8.96 PLOD1 PLOD2
6 hydroxylysine biosynthetic process GO:0046947 8.62 PLOD1 PLOD2

Molecular functions related to Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.4 PLOD1 PLOD2
2 iron ion binding GO:0005506 9.37 PLOD1 PLOD2
3 dioxygenase activity GO:0051213 9.32 PLOD1 PLOD2
4 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.26 PLOD1 PLOD2
5 L-ascorbic acid binding GO:0031418 9.16 PLOD1 PLOD2
6 procollagen glucosyltransferase activity GO:0033823 8.96 PLOD1 PLOD2
7 procollagen-lysine 5-dioxygenase activity GO:0008475 8.62 PLOD1 PLOD2

Sources for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....