MCID: ATL001
MIFTS: 41

Atelosteogenesis

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

Aliases & Classifications for Atelosteogenesis

MalaCards integrated aliases for Atelosteogenesis:

Name: Atelosteogenesis 12 30 6 15
Atelosteogenesis, Type 1 74

Classifications:



External Ids:

Disease Ontology 12 DOID:0050648
UMLS 74 C0265283

Summaries for Atelosteogenesis

Disease Ontology : 12 An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns.

MalaCards based summary : Atelosteogenesis, also known as atelosteogenesis, type 1, is related to boomerang dysplasia and epiphyseal dysplasia, multiple, 4. An important gene associated with Atelosteogenesis is FLNB (Filamin B), and among its related pathways/superpathways are ERK Signaling and MAPK signaling pathway. The drugs Capsaicin and Esketamine have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotypes are Decreased cell migration and cellular

Related Diseases for Atelosteogenesis

Diseases in the Atelosteogenesis family:

Atelosteogenesis, Type I Atelosteogenesis, Type Iii
Atelosteogenesis, Type Ii

Diseases related to Atelosteogenesis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 boomerang dysplasia 32.0 FLNB ITGA2 IVD SLC26A2
2 epiphyseal dysplasia, multiple, 4 30.9 COL9A2 SLC26A2
3 achondrogenesis, type ib 29.7 FLNB SLC26A2 SLC26A3 SLC26A4 SLC26A5
4 diastrophic dysplasia 29.5 COL2A1 SLC26A2 SLC26A3 SLC26A4 SLC26A5
5 atelosteogenesis, type ii 12.8
6 atelosteogenesis, type i 12.7
7 atelosteogenesis, type iii 12.7
8 larsen syndrome 11.1
9 congenital chloride diarrhea 10.3 SLC26A2 SLC26A3
10 epiphyseal dysplasia, multiple, 5 10.3 COL9A2 SLC26A2
11 otopalatodigital syndrome, type ii 10.3
12 myopathy, myofibrillar, 5 10.3 FLNA FLNC
13 epiphyseal dysplasia, multiple, 1 10.2 COL9A2 SLC26A2
14 dyshormonogenic goiter 10.2 SLC26A2 SLC26A4
15 ear malformation 10.2 FLNB SLC26A4
16 exophthalmos 10.2 FGFR3 FLNA
17 deafness, autosomal dominant 20 10.2 SLC26A2 SLC26A3
18 pseudoachondroplasia 10.1 COL9A2 SLC26A2
19 hajdu-cheney syndrome 10.1 FLNA FLNB FLNC
20 deafness, autosomal recessive 6 10.1 SLC26A3 SLC26A5
21 melnick-needles syndrome 10.1
22 achondrogenesis, type ia 10.0 COL2A1 SLC26A2
23 vitreoretinal degeneration 10.0 COL2A1 COL9A2
24 synovial chondromatosis 9.9 COL2A1 FGFR3
25 achondrogenesis 9.9 COL2A1 COL9A2 SLC26A2
26 stickler syndrome 9.9 COL2A1 COL9A2
27 multiple epiphyseal dysplasia 9.9 COL2A1 COL9A2 SLC26A2
28 metaphyseal chondrodysplasia, jansen type 9.9 COL2A1 FGFR3
29 spondyloepiphyseal dysplasia with congenital joint dislocations 9.8 COL2A1 FGFR3 SLC26A2
30 spondyloepiphyseal dysplasia congenita 9.8 COL2A1 FGFR3 SLC26A2
31 deafness, autosomal dominant 6 9.8 FGFR3 SLC26A4
32 spondylocarpotarsal synostosis syndrome 9.8 COL2A1 FLNB IVD
33 bone deterioration disease 9.8 COL2A1 COL9A2 IVD
34 skeletal dysplasias 9.8 COL2A1 FGFR3 FLNA
35 bone structure disease 9.8 COL2A1 COL9A2 IVD
36 scoliosis 9.8 COL2A1 FGFR3 FLNB
37 spinal stenosis 9.8 COL2A1 COL9A2
38 pendred syndrome 9.7 SLC26A2 SLC26A3 SLC26A4 SLC26A5
39 bone development disease 9.7 COL2A1 COL9A2 FGFR3 SLC26A2
40 sensorineural hearing loss 9.5 COL2A1 SLC26A4 SLC26A5

Graphical network of the top 20 diseases related to Atelosteogenesis:



Diseases related to Atelosteogenesis

Symptoms & Phenotypes for Atelosteogenesis

GenomeRNAi Phenotypes related to Atelosteogenesis according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 8.92 FGFR3 FLNA FLNC ITGA2

MGI Mouse Phenotypes related to Atelosteogenesis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.03 ATF6 COL2A1 FGFR3 FLNA FLNB ITGA2
2 growth/size/body region MP:0005378 10.02 ATF6 COL2A1 FGFR3 FLNA FLNB FLNC
3 homeostasis/metabolism MP:0005376 10 ATF6 COL2A1 COL9A2 FGFR3 FLNA FLNB
4 craniofacial MP:0005382 9.8 COL2A1 FGFR3 FLNA FLNB SLC26A2
5 hearing/vestibular/ear MP:0005377 9.72 COL2A1 COL9A2 FGFR3 SLC26A4 SLC26A5
6 mortality/aging MP:0010768 9.61 ATF6 COL2A1 FGFR3 FLNA FLNB FLNC
7 limbs/digits/tail MP:0005371 9.55 COL2A1 COL9A2 FGFR3 FLNB SLC26A2
8 skeleton MP:0005390 9.17 COL2A1 COL9A2 FGFR3 FLNA FLNB SLC26A2

Drugs & Therapeutics for Atelosteogenesis

Drugs for Atelosteogenesis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Capsaicin Approved Phase 4 404-86-4 1548943
2
Esketamine Approved, Investigational Phase 4 33643-46-8
3
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
4
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
5 Peripheral Nervous System Agents Phase 4,Not Applicable
6 Anesthetics Phase 4
7 Excitatory Amino Acid Antagonists Phase 4
8 Analgesics Phase 4
9 Adjuvants, Anesthesia Phase 4
10 Antidepressive Agents Phase 4
11 Neurotransmitter Agents Phase 4
12 Analgesics, Opioid Phase 4
13 Excitatory Amino Acids Phase 4
14 Narcotics Phase 4
15 Anesthetics, General Phase 4
16 Psychotropic Drugs Phase 4
17 Anesthetics, Intravenous Phase 4
18 Anesthetics, Dissociative Phase 4
19 Central Nervous System Depressants Phase 4
20 Hops Approved Not Applicable
21 Autonomic Agents Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Sensory Examination and Pharmacological Modulation of Oral Hyperexcitability in Patients With Atypical Odontalgia and Matched Healthy Controls Completed NCT00115102 Phase 4 fentanyl;S-ketamine
2 ACUVUE® OASYS® 1-DAY vs DAILIES TOTAL1® Completed NCT02750813 Not Applicable
3 Clinical Evaluation of ACUVUE® OASYS® 1-Day and ACUVUE® OASYS® Completed NCT02696317 Not Applicable
4 Investigation of the Acute Cognitive, Mood and Autonomic Effects of Hops in Healthy Participants Completed NCT01376869 Not Applicable

Search NIH Clinical Center for Atelosteogenesis

Genetic Tests for Atelosteogenesis

Genetic tests related to Atelosteogenesis:

# Genetic test Affiliating Genes
1 Atelosteogenesis 30

Anatomical Context for Atelosteogenesis

MalaCards organs/tissues related to Atelosteogenesis:

42
Bone

Publications for Atelosteogenesis

Articles related to Atelosteogenesis:

(show all 39)
# Title Authors Year
1
Long-term survival of a pediatric patient affected with atelosteogenesis type 3 in an adult ICU. ( 29651828 )
2018
2
Diagnosis of Atelosteogenesis Type I suggested by Fetal Ultrasonography and Atypical Paternal Phenotype with Mosaicism. ( 30231296 )
2018
3
Atelosteogenesis type III: orthopedic management. ( 27258362 )
2017
4
Identification of a de novo heterozygous missense FLNB mutation in lethal atelosteogenesis type I by exome sequencing. ( 24624349 )
2014
5
Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue. ( 23401428 )
2013
6
Atelosteogenesis type I: autopsy findings. ( 21985323 )
2011
7
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. ( 21077202 )
2010
8
Prenatal sonographic features of fetal atelosteogenesis type 1. ( 19643794 )
2009
9
Fetal MR imaging of atelosteogenesis type II (AO-II). ( 18716767 )
2008
10
Prenatal diagnosis of a rare skeletal dysplasia by ultrasound and scan tomography: atelosteogenesis III (AO III). Correlation with autopsy. ( 18792994 )
2008
11
A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia. ( 16642506 )
2006
12
Mutations in two regions of FLNB result in atelosteogenesis I and III. ( 16752402 )
2006
13
Diagnosis of atelosteogenesis type II after a routine echography at 12 weeks' pregnancy. ( 16052470 )
2005
14
Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation. ( 15316973 )
2004
15
Prenatal diagnosis of atelosteogenesis type I at 21 weeks' gestation. ( 12454961 )
2002
16
Atelosteogenesis type III: long term survival, prenatal diagnosis, and evidence for dominant transmission. ( 10076882 )
1999
17
Atelosteogenesis type 2. ( 9475095 )
1998
18
Prenatal ultrasonographic description and postnatal pathological findings in atelosteogenesis type 1. ( 9779808 )
1998
19
Radiographic and morphologic findings in a previously undescribed type of mesomelic dysplasia resembling atelosteogenesis type II. ( 9843047 )
1998
20
Atelosteogenesis syndromes: a review, with comments on their pathogenesis. ( 9133349 )
1997
21
Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2. ( 9342225 )
1997
22
Atypical skeletal changes in otopalatodigital syndrome type II: phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome. ( 9409862 )
1997
23
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. ( 8571951 )
1996
24
A new lethal skeletal dysplasia or the severe end of the atelosteogenesis spectrum? ( 8781111 )
1996
25
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia. ( 8931695 )
1996
26
De la Chapelle dysplasia (atelosteogenesis type II): case report and review of the literature [corrected]. ( 7632220 )
1994
27
Atelosteogenesis type III: a case report. ( 8008496 )
1994
28
Lethal bone dysplasia in a fetus with manifestations of atelosteogenesis I and Boomerang dysplasia. ( 8291529 )
1993
29
Atelosteogenesis type 1. ( 8373337 )
1993
30
Atelosteogenesis type II: sonographic and radiological correlation. ( 1279661 )
1992
31
Atelosteogenesis type 3: the first patient in Japan and a survivor for more than 1 year. ( 1442028 )
1992
32
Atelosteogenesis I and boomerang dysplasia: a question of nosology. ( 1863996 )
1991
33
A case of atelosteogenesis. ( 2325095 )
1990
34
Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II. ( 2368807 )
1990
35
Variant of atelosteogenesis? Report of a 20-week fetus. ( 3400734 )
1988
36
Atelosteogenesis: evidence for heterogeneity. ( 3562108 )
1987
37
Antenatal diagnosis of frontal cephalocele in a fetus with atelosteogenesis. ( 3514934 )
1986
38
Atelosteogenesis. ( 6420296 )
1984
39
Atelosteogenesis. ( 7137218 )
1982

Variations for Atelosteogenesis

ClinVar genetic disease variations for Atelosteogenesis:

6 (show top 50) (show all 188)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC26A2 NM_000112.3(SLC26A2): c.1474C> T (p.Arg492Trp) single nucleotide variant Benign/Likely benign rs78676079 GRCh37 Chromosome 5, 149360630: 149360630
2 SLC26A2 NM_000112.3(SLC26A2): c.1474C> T (p.Arg492Trp) single nucleotide variant Benign/Likely benign rs78676079 GRCh38 Chromosome 5, 149981067: 149981067
3 SLC26A2 NM_000112.3(SLC26A2): c.2065A> T (p.Thr689Ser) single nucleotide variant Benign rs3776070 GRCh37 Chromosome 5, 149361221: 149361221
4 SLC26A2 NM_000112.3(SLC26A2): c.2065A> T (p.Thr689Ser) single nucleotide variant Benign rs3776070 GRCh38 Chromosome 5, 149981658: 149981658
5 SLC26A2 NM_000112.3(SLC26A2): c.1721T> C (p.Ile574Thr) single nucleotide variant Benign rs30832 GRCh37 Chromosome 5, 149360877: 149360877
6 SLC26A2 NM_000112.3(SLC26A2): c.1721T> C (p.Ile574Thr) single nucleotide variant Benign rs30832 GRCh38 Chromosome 5, 149981314: 149981314
7 SLC26A2 NM_000112.3(SLC26A2): c.987T> C (p.Leu329=) single nucleotide variant Conflicting interpretations of pathogenicity rs116302615 GRCh37 Chromosome 5, 149360143: 149360143
8 SLC26A2 NM_000112.3(SLC26A2): c.987T> C (p.Leu329=) single nucleotide variant Conflicting interpretations of pathogenicity rs116302615 GRCh38 Chromosome 5, 149980580: 149980580
9 SLC26A2 NM_000112.3(SLC26A2): c.2220A> G (p.Ter740=) single nucleotide variant Benign/Likely benign rs61732052 GRCh38 Chromosome 5, 149981813: 149981813
10 SLC26A2 NM_000112.3(SLC26A2): c.2220A> G (p.Ter740=) single nucleotide variant Benign/Likely benign rs61732052 GRCh37 Chromosome 5, 149361376: 149361376
11 SLC26A2 NM_000112.3(SLC26A2): c.1410A> G (p.Val470=) single nucleotide variant Benign/Likely benign rs115777661 GRCh37 Chromosome 5, 149360566: 149360566
12 SLC26A2 NM_000112.3(SLC26A2): c.1410A> G (p.Val470=) single nucleotide variant Benign/Likely benign rs115777661 GRCh38 Chromosome 5, 149981003: 149981003
13 SLC26A2 NM_000112.3(SLC26A2): c.1512G> A (p.Met504Ile) single nucleotide variant Uncertain significance rs76668544 GRCh37 Chromosome 5, 149360668: 149360668
14 SLC26A2 NM_000112.3(SLC26A2): c.1512G> A (p.Met504Ile) single nucleotide variant Uncertain significance rs76668544 GRCh38 Chromosome 5, 149981105: 149981105
15 SLC26A2 NM_000112.3(SLC26A2): c.-40G> A single nucleotide variant Uncertain significance rs532461120 GRCh38 Chromosome 5, 149960965: 149960965
16 SLC26A2 NM_000112.3(SLC26A2): c.-40G> A single nucleotide variant Uncertain significance rs532461120 GRCh37 Chromosome 5, 149340528: 149340528
17 SLC26A2 NM_000112.3(SLC26A2): c.1252A> G (p.Met418Val) single nucleotide variant Uncertain significance rs374309119 GRCh38 Chromosome 5, 149980845: 149980845
18 SLC26A2 NM_000112.3(SLC26A2): c.1252A> G (p.Met418Val) single nucleotide variant Uncertain significance rs374309119 GRCh37 Chromosome 5, 149360408: 149360408
19 SLC26A2 NM_000112.3(SLC26A2): c.1402C> T (p.Leu468Phe) single nucleotide variant Uncertain significance rs886060224 GRCh38 Chromosome 5, 149980995: 149980995
20 SLC26A2 NM_000112.3(SLC26A2): c.1402C> T (p.Leu468Phe) single nucleotide variant Uncertain significance rs886060224 GRCh37 Chromosome 5, 149360558: 149360558
21 SLC26A2 NM_000112.3(SLC26A2): c.2145G> A (p.Ala715=) single nucleotide variant Uncertain significance rs886060225 GRCh37 Chromosome 5, 149361301: 149361301
22 SLC26A2 NM_000112.3(SLC26A2): c.2145G> A (p.Ala715=) single nucleotide variant Uncertain significance rs886060225 GRCh38 Chromosome 5, 149981738: 149981738
23 SLC26A2 NM_000112.3(SLC26A2): c.*216T> G single nucleotide variant Uncertain significance rs886060227 GRCh37 Chromosome 5, 149361592: 149361592
24 SLC26A2 NM_000112.3(SLC26A2): c.*216T> G single nucleotide variant Uncertain significance rs886060227 GRCh38 Chromosome 5, 149982029: 149982029
25 SLC26A2 NM_000112.3(SLC26A2): c.*330G> T single nucleotide variant Uncertain significance rs191884433 GRCh37 Chromosome 5, 149361706: 149361706
26 SLC26A2 NM_000112.3(SLC26A2): c.*330G> T single nucleotide variant Uncertain significance rs191884433 GRCh38 Chromosome 5, 149982143: 149982143
27 SLC26A2 NM_000112.3(SLC26A2): c.*394T> A single nucleotide variant Likely benign rs140641532 GRCh37 Chromosome 5, 149361770: 149361770
28 SLC26A2 NM_000112.3(SLC26A2): c.*394T> A single nucleotide variant Likely benign rs140641532 GRCh38 Chromosome 5, 149982207: 149982207
29 SLC26A2 NM_000112.3(SLC26A2): c.*590C> T single nucleotide variant Likely benign rs1046710 GRCh37 Chromosome 5, 149361966: 149361966
30 SLC26A2 NM_000112.3(SLC26A2): c.*590C> T single nucleotide variant Likely benign rs1046710 GRCh38 Chromosome 5, 149982403: 149982403
31 SLC26A2 NM_000112.3(SLC26A2): c.*938T> C single nucleotide variant Likely benign rs150188068 GRCh37 Chromosome 5, 149362314: 149362314
32 SLC26A2 NM_000112.3(SLC26A2): c.*938T> C single nucleotide variant Likely benign rs150188068 GRCh38 Chromosome 5, 149982751: 149982751
33 SLC26A2 NM_000112.3(SLC26A2): c.*1543C> T single nucleotide variant Uncertain significance rs886060235 GRCh37 Chromosome 5, 149362919: 149362919
34 SLC26A2 NM_000112.3(SLC26A2): c.*1543C> T single nucleotide variant Uncertain significance rs886060235 GRCh38 Chromosome 5, 149983356: 149983356
35 SLC26A2 NM_000112.3(SLC26A2): c.*2176A> G single nucleotide variant Uncertain significance rs772022436 GRCh38 Chromosome 5, 149983989: 149983989
36 SLC26A2 NM_000112.3(SLC26A2): c.*2176A> G single nucleotide variant Uncertain significance rs772022436 GRCh37 Chromosome 5, 149363552: 149363552
37 SLC26A2 NM_000112.3(SLC26A2): c.*2289T> C single nucleotide variant Uncertain significance rs886060238 GRCh38 Chromosome 5, 149984102: 149984102
38 SLC26A2 NM_000112.3(SLC26A2): c.*2289T> C single nucleotide variant Uncertain significance rs886060238 GRCh37 Chromosome 5, 149363665: 149363665
39 SLC26A2 NM_000112.3(SLC26A2): c.*2470T> G single nucleotide variant Uncertain significance rs555959221 GRCh38 Chromosome 5, 149984283: 149984283
40 SLC26A2 NM_000112.3(SLC26A2): c.*2470T> G single nucleotide variant Uncertain significance rs555959221 GRCh37 Chromosome 5, 149363846: 149363846
41 SLC26A2 NM_000112.3(SLC26A2): c.*2603T> C single nucleotide variant Uncertain significance rs749507700 GRCh38 Chromosome 5, 149984416: 149984416
42 SLC26A2 NM_000112.3(SLC26A2): c.*2603T> C single nucleotide variant Uncertain significance rs749507700 GRCh37 Chromosome 5, 149363979: 149363979
43 SLC26A2 NM_000112.3(SLC26A2): c.*2617C> T single nucleotide variant Uncertain significance rs188922059 GRCh38 Chromosome 5, 149984430: 149984430
44 SLC26A2 NM_000112.3(SLC26A2): c.*2617C> T single nucleotide variant Uncertain significance rs188922059 GRCh37 Chromosome 5, 149363993: 149363993
45 SLC26A2 NM_000112.3(SLC26A2): c.*3261A> C single nucleotide variant Uncertain significance rs886060245 GRCh38 Chromosome 5, 149985074: 149985074
46 SLC26A2 NM_000112.3(SLC26A2): c.*3261A> C single nucleotide variant Uncertain significance rs886060245 GRCh37 Chromosome 5, 149364637: 149364637
47 SLC26A2 NM_000112.3(SLC26A2): c.*3307A> G single nucleotide variant Uncertain significance rs557854258 GRCh38 Chromosome 5, 149985120: 149985120
48 SLC26A2 NM_000112.3(SLC26A2): c.*3307A> G single nucleotide variant Uncertain significance rs557854258 GRCh37 Chromosome 5, 149364683: 149364683
49 SLC26A2 NM_000112.3(SLC26A2): c.*3466C> G single nucleotide variant Likely benign rs6888879 GRCh37 Chromosome 5, 149364842: 149364842
50 SLC26A2 NM_000112.3(SLC26A2): c.*3466C> G single nucleotide variant Likely benign rs6888879 GRCh38 Chromosome 5, 149985279: 149985279

Expression for Atelosteogenesis

Search GEO for disease gene expression data for Atelosteogenesis.

Pathways for Atelosteogenesis

GO Terms for Atelosteogenesis

Cellular components related to Atelosteogenesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.81 FGFR3 FLNA FLNB FLNC ITGA2 SLC26A2
2 Z disc GO:0030018 9.13 FLNA FLNB FLNC
3 focal adhesion GO:0005925 9.02 FGFR3 FLNA FLNB FLNC ITGA2

Biological processes related to Atelosteogenesis according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.83 SLC26A2 SLC26A3 SLC26A4 SLC26A5
2 extracellular matrix organization GO:0030198 9.69 COL2A1 COL9A2 ITGA2
3 skeletal system development GO:0001501 9.65 COL2A1 COL9A2 FGFR3
4 sensory perception of sound GO:0007605 9.63 COL2A1 SLC26A4 SLC26A5
5 chloride transmembrane transport GO:1902476 9.62 SLC26A2 SLC26A3 SLC26A4 SLC26A5
6 anion transmembrane transport GO:0098656 9.58 SLC26A3 SLC26A4 SLC26A5
7 bicarbonate transport GO:0015701 9.56 SLC26A2 SLC26A3 SLC26A4 SLC26A5
8 chondrocyte differentiation GO:0002062 9.55 COL2A1 FGFR3
9 establishment of protein localization GO:0045184 9.54 FLNA ITGA2
10 endochondral ossification GO:0001958 9.49 COL2A1 FGFR3
11 sulfate transport GO:0008272 9.46 SLC26A2 SLC26A3 SLC26A4 SLC26A5
12 cell junction assembly GO:0034329 9.43 FLNA FLNC
13 sulfate transmembrane transport GO:1902358 9.26 SLC26A2 SLC26A3 SLC26A4 SLC26A5
14 regulation of membrane potential GO:0042391 9.07 SLC26A5
15 oxalate transport GO:0019532 8.92 SLC26A2 SLC26A3 SLC26A4 SLC26A5

Molecular functions related to Atelosteogenesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 anion:anion antiporter activity GO:0015301 9.67 SLC26A2 SLC26A3 SLC26A4 SLC26A5
2 sulfate transmembrane transporter activity GO:0015116 9.62 SLC26A2 SLC26A3 SLC26A4 SLC26A5
3 bicarbonate transmembrane transporter activity GO:0015106 9.56 SLC26A2 SLC26A3 SLC26A4 SLC26A5
4 chloride transmembrane transporter activity GO:0015108 9.46 SLC26A2 SLC26A3 SLC26A4 SLC26A5
5 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.4 COL2A1 COL9A2
6 secondary active sulfate transmembrane transporter activity GO:0008271 9.26 SLC26A2 SLC26A3 SLC26A4 SLC26A5
7 oxalate transmembrane transporter activity GO:0019531 8.92 SLC26A2 SLC26A3 SLC26A4 SLC26A5

Sources for Atelosteogenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....