OI11
MCID: OST133
MIFTS: 42

Osteogenesis Imperfecta, Type Xi (OI11)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Osteogenesis Imperfecta, Type Xi

MalaCards integrated aliases for Osteogenesis Imperfecta, Type Xi:

Name: Osteogenesis Imperfecta, Type Xi 56 29 13 6 71
Osteogenesis Imperfecta Type Xi 12 52 73 39
Oi11 56 12 52 73
Osteogenesis Imperfecta Type 11 12 52 15
Oi Type Xi 52 73
Osteogenesis Imperfecta 11 73
Oi, Type Xi 56
Oi Type 11 52
Oi-Xi 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset of fractures 4-18 months of life
severe ambulatory restriction


HPO:

31
osteogenesis imperfecta, type xi:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



Summaries for Osteogenesis Imperfecta, Type Xi

UniProtKB/Swiss-Prot : 73 Osteogenesis imperfecta 11: A form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI11 is an autosomal recessive form.

MalaCards based summary : Osteogenesis Imperfecta, Type Xi, also known as osteogenesis imperfecta type xi, is related to brittle bone disorder and dentinogenesis imperfecta. An important gene associated with Osteogenesis Imperfecta, Type Xi is FKBP10 (FKBP Prolyl Isomerase 10), and among its related pathways/superpathways is Parkinson disease. Affiliated tissues include bone, skin and t cells, and related phenotypes are coxa vara and scoliosis

Disease Ontology : 12 An osteogenesis imperfecta that has material basis in mutation in the FKBP10 gene on chromosome 17q21.

OMIM : 56 Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XI is an autosomal recessive form of OI (summary by Alanay et al., 2010). (610968)

Related Diseases for Osteogenesis Imperfecta, Type Xi

Diseases in the Osteogenesis Imperfecta, Type Iii family:

Osteogenesis Imperfecta, Type I Osteogenesis Imperfecta, Type Ii
Osteogenesis Imperfecta, Type Iv Osteogenesis Imperfecta, Type Ix
Osteogenesis Imperfecta, Type Xix Osteogenesis Imperfecta, Type Vii
Osteogenesis Imperfecta, Type Viii Osteogenesis Imperfecta, Type V
Osteogenesis Imperfecta, Type Xi Osteogenesis Imperfecta, Type X
Osteogenesis Imperfecta, Type Xii Osteogenesis Imperfecta, Type Vi
Osteogenesis Imperfecta, Type Xiii Osteogenesis Imperfecta, Type Xiv
Osteogenesis Imperfecta, Type Xv Osteogenesis Imperfecta, Type Xvi
Osteogenesis Imperfecta, Type Xvii Osteogenesis Imperfecta, Type Xviii
Osteogenesis Imperfecta, Type Xx

Diseases related to Osteogenesis Imperfecta, Type Xi via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 brittle bone disorder 10.4
2 dentinogenesis imperfecta 10.2
3 muscular atrophy 10.2
4 skeletal dysplasias 10.2
5 osteogenesis imperfecta, type xiv 10.1 MNS1 DNAH9
6 osteogenesis imperfecta, type xii 10.0 FKBP10 DNAH9
7 ciliary dyskinesia, primary, 8 9.9 DNAI1 CCDC114
8 ciliary dyskinesia, primary, 4 9.9 DNAI1 CCDC114
9 dextro-looped transposition of the great arteries 9.8 DNAI1 ARMC4
10 acute retrobulbar neuritis 9.8 DNAI2 DNAI1
11 middle ear disease 9.5 DNAI2 DNAI1
12 bronchiectasis 9.5 DNAI2 DNAI1 CCDC114
13 dextrocardia 9.5 DNAI2 DNAI1 ARMC4
14 paranasal sinus disease 9.4 DNAI2 DNAI1
15 situs inversus 9.0 DNAI2 DNAI1 DNAH9 CCDC114 ARMC4
16 ciliary dyskinesia, primary, 1 8.6 DNALI1 DNAI2 DNAI1 DNAH9 CCDC114 ARMC4
17 visceral heterotaxy 8.0 MNS1 GAS8 DNALI1 DNAI2 DNAI1 DNAH9
18 kartagener syndrome 8.0 MNS1 GAS8 DNALI1 DNAI2 DNAI1 DNAH9
19 primary ciliary dyskinesia 8.0 MNS1 GAS8 DNALI1 DNAI2 DNAI1 DNAH9

Graphical network of the top 20 diseases related to Osteogenesis Imperfecta, Type Xi:



Diseases related to Osteogenesis Imperfecta, Type Xi

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Xi

Human phenotypes related to Osteogenesis Imperfecta, Type Xi:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 coxa vara 31 very rare (1%) HP:0002812
2 scoliosis 31 HP:0002650
3 abnormality of the dentition 31 HP:0000164
4 short stature 31 HP:0004322
5 brachycephaly 31 HP:0000248
6 osteopenia 31 HP:0000938
7 joint laxity 31 HP:0001388
8 kyphoscoliosis 31 HP:0002751
9 protrusio acetabuli 31 HP:0003179
10 wormian bones 31 HP:0002645
11 blue sclerae 31 HP:0000592
12 triangular face 31 HP:0000325
13 vertebral wedging 31 HP:0008422
14 abnormality of the skin 31 HP:0000951
15 dentinogenesis imperfecta 31 HP:0000703
16 biconcave vertebral bodies 31 HP:0004586
17 increased susceptibility to fractures 31 HP:0002659
18 vertebral compression fractures 31 HP:0002953
19 elevated alkaline phosphatase 31 HP:0003155

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
brachycephaly

Skeletal Spine:
kyphoscoliosis
biconcave vertebrae
wedge-shaped vertebrae
vertebral compression fractures (8/8 patients)
scoliosis (5/8 patients)

Skin Nails Hair Skin:
normal skin
no easy bruisability

Skeletal Skull:
wormian bones (in some patients)

Growth Weight:
birth weight normal

Head And Neck Teeth:
dentinogenesis imperfecta (in one family)

Skeletal Limbs:
bulbous metaphyses (2/8 patients)
bowed extremities
long bone deformity

Skeletal:
osteopenia
joint laxity
moderate to severe bone fragility
moderately deforming osteogenesis imperfecta
decreased bone mineral density z score

Head And Neck Face:
triangular face

Laboratory Abnormalities:
elevated serum alkaline phosphatase

Growth Height:
short stature (childhood)
birth length normal

Head And Neck Eyes:
white to faintly blue sclera

Skeletal Pelvis:
unilateral/bilateral coxa vara (5/8 patients)
protrusio acetabuli (4/8 patients)
'fish-scale' pattern of lamellae
increased osteoid volume
hyperosteoidosis

Clinical features from OMIM:

610968

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Xi:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 9.02 ARMC4 DNAI1 DNAI2 GAS8 MNS1

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Xi

Search Clinical Trials , NIH Clinical Center for Osteogenesis Imperfecta, Type Xi

Genetic Tests for Osteogenesis Imperfecta, Type Xi

Genetic tests related to Osteogenesis Imperfecta, Type Xi:

# Genetic test Affiliating Genes
1 Osteogenesis Imperfecta, Type Xi 29 FKBP10

Anatomical Context for Osteogenesis Imperfecta, Type Xi

MalaCards organs/tissues related to Osteogenesis Imperfecta, Type Xi:

40
Bone, Skin, T Cells

Publications for Osteogenesis Imperfecta, Type Xi

Articles related to Osteogenesis Imperfecta, Type Xi:

(show all 24)
# Title Authors PMID Year
1
Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix. 56
22718341 2012
2
Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta. 56
22107750 2011
3
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. 56
20839288 2011
4
FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification? 56
20696291 2010
5
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. 56
20362275 2010
6
Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfecta. 6
19358256 2009
7
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. 6
18996919 2009
8
Evidence that abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations. 6
18311573 2008
9
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. 6
17078022 2007
10
Osteogenesis imperfecta: clinical, biochemical and molecular findings. 6
16879195 2006
11
COL1A1/2 Osteogenesis Imperfecta 6
20301472 2005
12
Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients. 6
15241796 2004
13
Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients. 6
15024745 2004
14
Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV. 6
11317364 2001
15
Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy. 6
11113887 2000
16
Substitution of arginine for glycine at position 154 of the alpha 1 chain of type I collagen in a variant of osteogenesis imperfecta: comparison to previous cases with the same mutation. 6
8669434 1996
17
Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. 6
7942841 1994
18
Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen. 6
2037280 1991
19
The molecular defect in an autosomal dominant form of osteogenesis imperfecta. Synthesis of type I procollagen containing cysteine in the triple-helical domain of pro-alpha 1(I) chains. 6
3722186 1986
20
Successful aortic valve replacement for aortic regurgitation associated with osteogenesis imperfecta. 6
1137656 1975
21
Dentinogenesis imperfecta in Osteogenesis imperfecta type XI in South Africa: a genotype-phenotype correlation. 61
30993005 2019
22
Novel mutation of FKBP10 in a pediatric patient with osteogenesis imperfecta type XI identified by clinical exome sequencing. 61
29158687 2017
23
Novel FKBP10 Mutation in a Patient with Osteogenesis Imperfecta Type XI. 61
27362741 2016
24
The T cell receptor V beta 6 domain imparts reactivity to the Mls-1a antigen. 61
2522825 1989

Variations for Osteogenesis Imperfecta, Type Xi

ClinVar genetic disease variations for Osteogenesis Imperfecta, Type Xi:

6 (show top 50) (show all 81) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FKBP10 NM_021939.3(FKBP10):c.831dup (p.Gly278fs)duplication Pathogenic 438659 rs137853883 17:39975558-39975559 17:41819306-41819307
2 FKBP10 NM_021939.3(FKBP10):c.976del (p.Met326fs)deletion Pathogenic 222952 rs869025223 17:39975840-39975840 17:41819588-41819588
3 FKBP10 NM_021939.3(FKBP10):c.890_897dup (p.Gly300Ter)duplication Pathogenic/Likely pathogenic 631496 rs1567855132 17:39975623-39975624 17:41819371-41819372
4 FKBP10 NM_021939.4(FKBP10):c.106C>A (p.Pro36Thr)SNV Likely pathogenic 684394 17:39969392-39969392 17:41813140-41813140
5 FKBP10 NM_021939.4(FKBP10):c.134T>A (p.Val45Asp)SNV Likely pathogenic 684395 17:39969420-39969420 17:41813168-41813168
6 FKBP10 NM_021939.4(FKBP10):c.370G>T (p.Gly124Cys)SNV Likely pathogenic 684396 17:39973434-39973434 17:41817182-41817182
7 FKBP10 NM_021939.4(FKBP10):c.1290C>T (p.Leu430=)SNV Conflicting interpretations of pathogenicity 733387 17:39977232-39977232 17:41820980-41820980
8 FKBP10 NM_021939.4(FKBP10):c.942T>C (p.Asn314=)SNV Conflicting interpretations of pathogenicity 812015 17:39975806-39975806 17:41819554-41819554
9 FKBP10 NM_021939.3(FKBP10):c.1363A>G (p.Ile455Val)SNV Conflicting interpretations of pathogenicity 618129 rs146701946 17:39977305-39977305 17:41821053-41821053
10 FKBP10 NM_021939.3(FKBP10):c.590A>G (p.Lys197Arg)SNV Conflicting interpretations of pathogenicity 261438 rs34764749 17:39974642-39974642 17:41818390-41818390
11 FKBP10 NM_021939.3(FKBP10):c.21C>T (p.Pro7=)SNV Conflicting interpretations of pathogenicity 286621 rs781985978 17:39969307-39969307 17:41813055-41813055
12 FKBP10 NM_021939.3(FKBP10):c.246-5C>GSNV Conflicting interpretations of pathogenicity 195370 rs140027863 17:39973305-39973305 17:41817053-41817053
13 FKBP10 NM_021939.3(FKBP10):c.1307T>C (p.Ile436Thr)SNV Conflicting interpretations of pathogenicity 198900 rs61749879 17:39977249-39977249 17:41820997-41820997
14 FKBP10 NM_021939.3(FKBP10):c.825C>A (p.Leu275=)SNV Conflicting interpretations of pathogenicity 323187 rs782638955 17:39975559-39975559 17:41819307-41819307
15 FKBP10 NM_021939.3(FKBP10):c.984G>A (p.Gln328=)SNV Uncertain significance 323188 rs566306530 17:39975848-39975848 17:41819596-41819596
16 FKBP10 NM_021939.3(FKBP10):c.1723G>A (p.Glu575Lys)SNV Uncertain significance 323195 rs782264908 17:39978634-39978634 17:41822382-41822382
17 FKBP10 NM_021939.3(FKBP10):c.1613T>C (p.Met538Thr)SNV Uncertain significance 323194 rs144237565 17:39978524-39978524 17:41822272-41822272
18 FKBP10 NM_021939.3(FKBP10):c.473T>C (p.Val158Ala)SNV Uncertain significance 323181 rs781874365 17:39974422-39974422 17:41818170-41818170
19 FKBP10 NM_021939.3(FKBP10):c.587G>A (p.Ser196Asn)SNV Uncertain significance 323185 rs782660556 17:39974639-39974639 17:41818387-41818387
20 FKBP10 NM_021939.3(FKBP10):c.*589T>CSNV Uncertain significance 323202 rs886052925 17:39979249-39979249 17:41822997-41822997
21 FKBP10 NM_021939.3(FKBP10):c.-207C>TSNV Uncertain significance 323178 rs782363137 17:39969080-39969080 17:41812828-41812828
22 FKBP10 NM_021939.3(FKBP10):c.505C>G (p.Arg169Gly)SNV Uncertain significance 323182 rs782676847 17:39974454-39974454 17:41818202-41818202
23 FKBP10 NM_021939.3(FKBP10):c.520G>A (p.Gly174Ser)SNV Uncertain significance 323183 rs140950528 17:39974469-39974469 17:41818217-41818217
24 FKBP10 NM_021939.3(FKBP10):c.573C>T (p.Phe191=)SNV Uncertain significance 323184 rs577264401 17:39974522-39974522 17:41818270-41818270
25 FKBP10 NM_021939.3(FKBP10):c.-177C>GSNV Uncertain significance 323180 rs555053677 17:39969110-39969110 17:41812858-41812858
26 FKBP10 NM_021939.3(FKBP10):c.1098C>T (p.Phe366=)SNV Uncertain significance 323190 rs886052923 17:39976555-39976555 17:41820303-41820303
27 FKBP10 NM_021939.3(FKBP10):c.*549G>ASNV Uncertain significance 323201 rs757353571 17:39979209-39979209 17:41822957-41822957
28 FKBP10 NM_021939.3(FKBP10):c.*693G>TSNV Uncertain significance 323204 rs886052927 17:39979353-39979353 17:41823101-41823101
29 FKBP10 NM_021939.3(FKBP10):c.-303G>ASNV Uncertain significance 323176 rs886052922 17:39968984-39968984 17:41812732-41812732
30 FKBP10 NM_021939.4(FKBP10):c.1522G>A (p.Asp508Asn)SNV Uncertain significance 684403 17:39978028-39978028 17:41821776-41821776
31 FKBP10 NM_021939.3(FKBP10):c.-183C>GSNV Uncertain significance 323179 rs533813401 17:39969104-39969104 17:41812852-41812852
32 FKBP10 NM_021939.3(FKBP10):c.1556C>T (p.Pro519Leu)SNV Uncertain significance 618655 rs140883152 17:39978062-39978062 17:41821810-41821810
33 FKBP10 NM_021939.3(FKBP10):c.850G>A (p.Gly284Arg)SNV Uncertain significance 618130 rs372214186 17:39975584-39975584 17:41819332-41819332
34 FKBP10 NC_000017.11:g.41812764G>CSNV Uncertain significance 892177 17:39969016-39969016 17:41812764-41812764
35 FKBP10 NC_000017.11:g.41812946G>ASNV Uncertain significance 888740 17:39969198-39969198 17:41812946-41812946
36 FKBP10 NC_000017.11:g.41813000C>ASNV Uncertain significance 888741 17:39969252-39969252 17:41813000-41813000
37 FKBP10 NM_021939.4(FKBP10):c.268G>A (p.Ala90Thr)SNV Uncertain significance 890438 17:39973332-39973332 17:41817080-41817080
38 FKBP10 NM_021939.4(FKBP10):c.100G>A (p.Ala34Thr)SNV Uncertain significance 684398 17:39969386-39969386 17:41813134-41813134
39 FKBP10 NM_021939.4(FKBP10):c.408G>A (p.Pro136=)SNV Uncertain significance 890440 17:39974357-39974357 17:41818105-41818105
40 FKBP10 NM_021939.4(FKBP10):c.491C>T (p.Pro164Leu)SNV Uncertain significance 890441 17:39974440-39974440 17:41818188-41818188
41 FKBP10 NM_021939.4(FKBP10):c.522C>T (p.Gly174=)SNV Uncertain significance 891008 17:39974471-39974471 17:41818219-41818219
42 FKBP10 NM_021939.4(FKBP10):c.591G>A (p.Lys197=)SNV Uncertain significance 891009 17:39974643-39974643 17:41818391-41818391
43 FKBP10 NM_021939.4(FKBP10):c.616G>A (p.Gly206Ser)SNV Uncertain significance 891010 17:39974668-39974668 17:41818416-41818416
44 FKBP10 NM_021939.4(FKBP10):c.792G>A (p.Pro264=)SNV Uncertain significance 891011 17:39975526-39975526 17:41819274-41819274
45 FKBP10 NM_021939.4(FKBP10):c.1286C>T (p.Thr429Ile)SNV Uncertain significance 888817 17:39977228-39977228 17:41820976-41820976
46 FKBP10 NM_021939.4(FKBP10):c.1308C>T (p.Ile436=)SNV Uncertain significance 888818 17:39977250-39977250 17:41820998-41820998
47 FKBP10 NM_021939.4(FKBP10):c.1323G>A (p.Thr441=)SNV Uncertain significance 888819 17:39977265-39977265 17:41821013-41821013
48 FKBP10 NM_021939.4(FKBP10):c.1366G>A (p.Val456Met)SNV Uncertain significance 888820 17:39977308-39977308 17:41821056-41821056
49 FKBP10 NM_021939.4(FKBP10):c.1367T>C (p.Val456Ala)SNV Uncertain significance 888821 17:39977309-39977309 17:41821057-41821057
50 FKBP10 NM_021939.4(FKBP10):c.1382C>T (p.Ala461Val)SNV Uncertain significance 890518 17:39977324-39977324 17:41821072-41821072

Expression for Osteogenesis Imperfecta, Type Xi

Search GEO for disease gene expression data for Osteogenesis Imperfecta, Type Xi.

Pathways for Osteogenesis Imperfecta, Type Xi

Pathways related to Osteogenesis Imperfecta, Type Xi according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.89 DNALI1 DNAI2 DNAI1 DNAH9

GO Terms for Osteogenesis Imperfecta, Type Xi

Cellular components related to Osteogenesis Imperfecta, Type Xi according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.95 GAS8 DNALI1 DNAI2 DNAI1 DNAH9 CCDC114
2 cytoskeleton GO:0005856 9.88 GAS8 DNAI2 DNAI1 DNAH9 ARMC4
3 microtubule GO:0005874 9.76 GAS8 DNAI2 DNAI1 DNAH9
4 motile cilium GO:0031514 9.73 MNS1 GAS8 DNALI1 DNAH9
5 cilium GO:0005929 9.7 GAS8 DNALI1 DNAI2 DNAI1 DNAH9 CCDC114
6 sperm flagellum GO:0036126 9.67 MNS1 GAS8 DNALI1 DNAI2
7 dynein complex GO:0030286 9.56 DNALI1 DNAI2 DNAI1 DNAH9
8 9+2 motile cilium GO:0097729 9.5 GAS8 DNALI1 DNAH9
9 outer dynein arm GO:0036157 9.26 DNAI2 DNAI1 DNAH9 CCDC114
10 axoneme GO:0005930 9.17 MNS1 GAS8 DNALI1 DNAI2 DNAH9 CCDC114

Biological processes related to Osteogenesis Imperfecta, Type Xi according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.56 DNAI2 DNAI1 DNAH9 ARMC4
2 microtubule-based movement GO:0007018 9.5 DNAI2 DNAI1 DNAH9
3 determination of left/right symmetry GO:0007368 9.46 GAS8 DNAI2 DNAI1 ARMC4
4 flagellated sperm motility GO:0030317 9.4 GAS8 DNAI1
5 epithelial cilium movement GO:0003351 9.37 GAS8 DNAI1
6 outer dynein arm assembly GO:0036158 9.26 DNAI2 DNAI1 CCDC114 ARMC4
7 cilium movement GO:0003341 9.02 DNAI2 DNAI1 DNAH9 CCDC114 ARMC4

Molecular functions related to Osteogenesis Imperfecta, Type Xi according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule motor activity GO:0003777 9.26 DNAI2 DNAH9
2 motor activity GO:0003774 9.26 DNALI1 DNAI2 DNAI1 DNAH9
3 dynein light chain binding GO:0045503 9.16 DNAI2 DNAI1
4 dynein heavy chain binding GO:0045504 8.8 DNALI1 DNAI2 DNAI1

Sources for Osteogenesis Imperfecta, Type Xi

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
71 UMLS
72 UMLS via Orphanet
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