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DRS
MCID: DNR001
MIFTS: 46

Duane Retraction Syndrome (DRS)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Duane Retraction Syndrome

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MalaCards integrated aliases for Duane Retraction Syndrome:

Name: Duane Retraction Syndrome 12 60 38 45 15 41 74
Stilling-Turk-Duane Syndrome 12 60
Duane's Syndrome 12
Duane Syndrome 60
Durs 60
Drs 60

Characteristics:

Orphanet epidemiological data:

60
duane retraction syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases Genetic diseases
Anatomical: Neuronal diseases Eye diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


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Summaries for Duane Retraction Syndrome

About this section
MalaCards based summary : Duane Retraction Syndrome, also known as stilling-turk-duane syndrome, is related to duane retraction syndrome 2 and duane retraction syndrome 1, and has symptoms including ophthalmoparesis and ophthalmoplegia. An important gene associated with Duane Retraction Syndrome is CHN1 (Chimerin 1). Affiliated tissues include eye, skin and heart, and related phenotypes are strabismus and short palpebral fissure

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Related Diseases for Duane Retraction Syndrome

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Diseases in the Duane Retraction Syndrome family:

Duane Retraction Syndrome 1 Duane Retraction Syndrome 2

Diseases related to Duane Retraction Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 914)
# Related Disease Score Top Affiliating Genes
1 duane retraction syndrome 2 34.5 CHN1 MAFB
2 duane retraction syndrome 1 34.4 DURS1 MAFB
3 duane syndrome type 2 32.6 CHN1 MAFB
4 duane-radial ray syndrome 32.1 CHN1 SALL4
5 enophthalmos 29.9 CHN1 TNNI3K
6 exotropia 29.8 CHN1 KIF21A TNNI3K
7 amblyopia 29.5 CHN1 FOXL2 MAFB
8 congenital ptosis 28.8 CHN1 COL25A1 KIF21A TNNI3K
9 ptosis 28.5 COL25A1 FOXL2 KIF21A
10 isolated duane retraction syndrome 12.8
11 duane retraction syndrome 3 with or without deafness 12.7
12 duane retraction syndrome with congenital deafness 12.3
13 strabismus 11.6
14 duane syndrome type 1 11.5
15 kniest dysplasia 11.4
16 wildervanck syndrome 11.4
17 neu-laxova syndrome 1 11.4
18 blepharophimosis, ptosis, and epicanthus inversus 11.3
19 duane syndrome type 3 11.3
20 oculopharyngodistal myopathy 11.2
21 jalili syndrome 11.0
22 mowat-wilson syndrome 11.0
23 potocki-shaffer syndrome 11.0
24 lrba deficiency 11.0
25 schinzel giedion syndrome 11.0
26 angelman syndrome 10.9
27 arrhythmogenic right ventricular dysplasia, familial, 1 10.9
28 thanatophoric dysplasia, type ii 10.9
29 bietti crystalline corneoretinal dystrophy 10.9
30 bloom syndrome 10.9
31 cohen syndrome 10.9
32 apparent mineralocorticoid excess 10.9
33 primrose syndrome 10.9
34 pendred syndrome 10.9
35 weaver syndrome 10.9
36 immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia 10.9
37 brody myopathy 10.9
38 naxos disease 10.9
39 wiedemann-steiner syndrome 10.9
40 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.9
41 leprosy 1 10.9
42 potocki-lupski syndrome 10.9
43 bombay phenotype 10.9
44 kohler's disease 10.9
45 blackwater fever 10.9
46 alien hand syndrome 10.9
47 autoimmune inner ear disease 10.9
48 kienbock's disease 10.9
49 ledderhose disease 10.9
50 nevus of ota 10.9

Graphical network of the top 20 diseases related to Duane Retraction Syndrome:



Diseases related to Duane Retraction Syndrome
Sources

Symptoms & Phenotypes for Duane Retraction Syndrome

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Human phenotypes related to Duane Retraction Syndrome:

60 33 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 strabismus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000486
2 short palpebral fissure 60 33 hallmark (90%) Very frequent (99-80%) HP:0012745
3 oculomotor nerve palsy 60 33 hallmark (90%) Very frequent (99-80%) HP:0012246
4 sensorineural hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000407
5 anteverted nares 60 33 frequent (33%) Frequent (79-30%) HP:0000463
6 low posterior hairline 60 33 frequent (33%) Frequent (79-30%) HP:0002162
7 deeply set eye 60 33 frequent (33%) Frequent (79-30%) HP:0000490
8 blepharophimosis 60 33 frequent (33%) Frequent (79-30%) HP:0000581
9 abnormal vertebral segmentation and fusion 60 33 frequent (33%) Frequent (79-30%) HP:0005640
10 short neck 60 33 occasional (7.5%) Occasional (29-5%) HP:0000470
11 ptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000508
12 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639
13 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
14 global developmental delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001263
15 wide nasal bridge 60 33 occasional (7.5%) Occasional (29-5%) HP:0000431
16 microcephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000252
17 skeletal muscle atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0003202
18 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175
19 micrognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000347
20 ectopic kidney 60 33 occasional (7.5%) Occasional (29-5%) HP:0000086
21 abnormal form of the vertebral bodies 60 33 occasional (7.5%) Occasional (29-5%) HP:0003312
22 everted lower lip vermilion 60 33 occasional (7.5%) Occasional (29-5%) HP:0000232
23 webbed neck 60 33 occasional (7.5%) Occasional (29-5%) HP:0000465
24 external ear malformation 60 33 occasional (7.5%) Occasional (29-5%) HP:0008572
25 hypopigmented skin patches 60 33 occasional (7.5%) Occasional (29-5%) HP:0001053
26 talipes equinovarus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001762
27 chorioretinal coloboma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000567
28 irregular hyperpigmentation 60 33 occasional (7.5%) Occasional (29-5%) HP:0007400
29 brachydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001156
30 anorectal anomaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0012732
31 amblyopia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000646
32 spina bifida occulta 60 33 occasional (7.5%) Occasional (29-5%) HP:0003298
33 blepharospasm 60 33 occasional (7.5%) Occasional (29-5%) HP:0000643
34 iris coloboma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000612
35 preauricular skin tag 60 33 occasional (7.5%) Occasional (29-5%) HP:0000384
36 facial asymmetry 60 33 occasional (7.5%) Occasional (29-5%) HP:0000324
37 preaxial hand polydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001177
38 triphalangeal thumb 60 33 occasional (7.5%) Occasional (29-5%) HP:0001199
39 microcornea 60 33 occasional (7.5%) Occasional (29-5%) HP:0000482
40 stenosis of the external auditory canal 60 33 occasional (7.5%) Occasional (29-5%) HP:0000402
41 plagiocephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001357
42 narrow internal auditory canal 60 33 occasional (7.5%) Occasional (29-5%) HP:0011386
43 aplasia/hypoplasia of the thumb 60 33 occasional (7.5%) Occasional (29-5%) HP:0009601
44 hypoplasia of the radius 60 33 occasional (7.5%) Occasional (29-5%) HP:0002984
45 aniridia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000526
46 central heterochromia 60 33 occasional (7.5%) Occasional (29-5%) HP:0007818
47 absent radius 60 33 occasional (7.5%) Occasional (29-5%) HP:0003974
48 optic disc hypoplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0007766
49 hypoplastic iris stroma 60 33 occasional (7.5%) Occasional (29-5%) HP:0007990
50 patchy hypopigmentation of hair 60 33 occasional (7.5%) Occasional (29-5%) HP:0011365

UMLS symptoms related to Duane Retraction Syndrome:


ophthalmoparesis, ophthalmoplegia

GenomeRNAi Phenotypes related to Duane Retraction Syndrome according to GeneCards Suite gene sharing:

27 (show all 27)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.84 KIR2DL1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-108 9.84 CPA6
3 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.84 KIR2DL4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.84 CPA6
5 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.84 CPA6
6 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.84 KIR2DL1 KIR2DL4
7 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.84 KIR2DL1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.84 KIR2DL4
9 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.84 CPA6 KIR2DL1 KIR2DL4
10 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.84 KIR2DL1 KIR2DL4
11 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.84 CPA6 KIR2DL1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.84 KIR2DL1 KIR2DL4
13 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.84 KIR2DL1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.84 KIR2DL4
15 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.84 CPA6
16 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.84 KIR2DL1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.84 KIR2DL4
18 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.84 KIR2DL4
19 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.84 KIR2DL1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.84 KIR2DL4
21 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.84 KIR2DL4
22 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.84 KIR2DL4
23 Increased shRNA abundance (Z-score > 2) GR00366-A-77 9.84 KIR2DL4
24 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.84 KIR2DL1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.84 KIR2DL1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.84 KIR2DL4
27 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.84 CPA6
Sources

Drugs & Therapeutics for Duane Retraction Syndrome

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies Recruiting NCT03059420

Search NIH Clinical Center for Duane Retraction Syndrome

Cochrane evidence based reviews: duane retraction syndrome

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Genetic Tests for Duane Retraction Syndrome

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Anatomical Context for Duane Retraction Syndrome

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MalaCards organs/tissues related to Duane Retraction Syndrome:

42
Eye, Skin, Heart, Kidney, Skeletal Muscle, Brain, Colon
Sources

Publications for Duane Retraction Syndrome

About this section

Articles related to Duane Retraction Syndrome:

(show top 50) (show all 106)
# Title Authors Year
1
Duane Retraction Syndrome: Clinical Features and a Case Group-Specific Surgical Approach. ( 30516080 )
2019
2
Management of Duane retraction syndrome: A simplified approach. ( 30574884 )
2019
3
The Efficacy of Bilateral Lateral Rectus Recession According to Secondary Deviation Measurements in Unilateral Exotropic Duane Retraction Syndrome. ( 28991345 )
2018
4
A mutation in transcription factor MAFB causes Focal Segmental Glomerulosclerosis with Duane Retraction Syndrome. ( 29779709 )
2018
5
Augmented superior rectus transposition procedure in Duane retraction syndrome compared with sixth nerve palsy. ( 29299740 )
2018
6
Absent cochlear and abducens nerves in a patient with Duane retraction syndrome. ( 30377846 )
2018
7
Chromosomal microarray analysis of patients with Duane retraction syndrome. ( 30478753 )
2018
8
Transposition procedures in Duane retraction syndrome. ( 30586616 )
2018
9
Y-splitting with recession of lateral rectus versus lateral rectus recession in correcting upshoot in Duane retraction syndrome. ( 29018752 )
2017
10
Anomalous Lateral Rectus Muscle Band in a Case of Duane Retraction Syndrome. ( 29135308 )
2017
11
CHN1 gene mutation analysis in patients with Duane retraction syndrome. ( 29031989 )
2017
12
Postoperative full abduction in a patient of Duane retraction syndrome without an abducens nerve: a case report. ( 28526001 )
2017
13
Duane retraction syndrome: causes, effects and management strategies. ( 29133973 )
2017
14
Management of Duane retraction syndrome with prismatic glasses. ( 28442887 )
2017
15
Surgical treatment of Duane retraction syndrome. ( 29270470 )
2017
16
Mutant I+2-chimaerin signals via bidirectional ephrin pathways in Duane retraction syndrome. ( 28346224 )
2017
17
Unilateral lateral rectus cysticercosis presenting as Duane retraction syndrome type IIb. ( 28084290 )
2017
18
A simple and novel grading method for retraction and overshoot in Duane retraction syndrome. ( 27574176 )
2016
19
Duane retraction syndrome in a patient with Duchenne muscular dystrophy. ( 26849454 )
2016
20
Extraocular muscle dysinnervation disorder resembling Duane retraction syndrome in a 9-month-old French Bulldog. ( 27317499 )
2016
21
The genetics of nonsyndromic bilateral Duane retraction syndrome. ( 27658539 )
2016
22
A High Prevalence of Exotropia in Patients With Duane Retraction Syndrome in a Tertiary Eye Care Center in South India. ( 27977037 )
2016
23
Y-split recession vs isolated recession of the lateral rectus muscle in the treatment of vertical shooting in exotropic Duane retraction syndrome. ( 26833229 )
2016
24
Duane Retraction Syndrome Associated with a Small X Chromosome Deletion. ( 26891113 )
2016
25
Duane retraction syndrome type 1 with Usher syndrome type 2: an unreported association. ( 25955520 )
2015
26
Surgical management of strabismus in Duane retraction syndrome. ( 25727590 )
2015
27
Comparison of augmented superior rectus transposition with medial rectus recession for surgical management of esotropic Duane retraction syndrome. ( 26059662 )
2015
28
Modified Y-splitting Procedure for the Treatment of Duane Retraction Syndrome. ( 27800223 )
2015
29
Respond to: Management of exotropic Duane retraction syndrome. ( 25971189 )
2015
30
Evaluation of periosteal fixation of lateral rectus and partial VRT for cases of exotropic Duane retraction syndrome. ( 24618490 )
2014
31
Duane retraction syndrome in a Nigerian child. ( 25722769 )
2014
32
Comment on outcomes in patients with esotropic Duane retraction syndrome and a partially accommodative component. ( 25230971 )
2014
33
Duane retraction syndrome: A rare cause of strabismus. ( 25403117 )
2014
34
Does infantile abduction deficit indicate duane retraction syndrome until disproven? ( 24453144 )
2014
35
Microdeletions involving chromosomes 12 and 22 associated with syndromic Duane retraction syndrome. ( 24865192 )
2014
36
Abducens nerve in a patient with Duane retraction syndrome. ( 24767241 )
2014
37
Botulinum toxin treatment in patients up to 3 years of age who have esotropic Duane retraction syndrome. ( 23477770 )
2013
38
Inferior oblique myectomy for upshoots mimicking inferior oblique overaction in Duane retraction syndrome. ( 23672883 )
2013
39
Diversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome. ( 23687435 )
2013
40
Evaluation of periosteal fixation of lateral rectus and partial VRT for cases of exotropic Duane retraction syndrome. ( 24212222 )
2013
41
Outcomes in patients with esotropic duane retraction syndrome and a partially accommodative component. ( 24413823 )
2013
42
Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome. ( 24001015 )
2013
43
Bilateral type 3 Duane retraction syndrome with bilateral tilted disc syndrome. ( 22878473 )
2013
44
Is Duane retraction syndrome part of the VACTERL association? ( 23658476 )
2013
45
Partial Duplication of Chromosome 19 Associated with Syndromic Duane Retraction Syndrome. ( 23952617 )
2013
46
8q12 microduplication including CHD7: clinical report on a new patient with Duane retraction syndrome type 3. ( 24206642 )
2013
47
Contralateral lateral rectus muscle recession in patients with Duane retraction syndrome type 3. ( 24310235 )
2013
48
Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome. ( 24416505 )
2013
49
Duane retraction syndrome with posterior microphthalmos: a rare association. ( 22881831 )
2012
50
Axon guidance in the developing ocular motor system and Duane retraction syndrome depends on Semaphorin signaling via alpha2-chimaerin. ( 22912401 )
2012
Sources

Variations for Duane Retraction Syndrome

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ClinVar genetic disease variations for Duane Retraction Syndrome:

6 (show all 48)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHN1 NM_001822.5(CHN1): c.628-15C> T single nucleotide variant Uncertain significance rs529028832 GRCh38 Chromosome 2, 174824533: 174824533
2 CHN1 NM_001822.5(CHN1): c.628-15C> T single nucleotide variant Uncertain significance rs529028832 GRCh37 Chromosome 2, 175689261: 175689261
3 CHN1 NM_001822.5(CHN1): c.-271T> C single nucleotide variant Uncertain significance rs543170770 GRCh38 Chromosome 2, 175005183: 175005183
4 CHN1 NM_001822.5(CHN1): c.-271T> C single nucleotide variant Uncertain significance rs543170770 GRCh37 Chromosome 2, 175869911: 175869911
5 CHN1 NM_001822.5(CHN1): c.*677G> A single nucleotide variant Likely benign rs192645480 GRCh38 Chromosome 2, 174799439: 174799439
6 CHN1 NM_001822.5(CHN1): c.*677G> A single nucleotide variant Likely benign rs192645480 GRCh37 Chromosome 2, 175664167: 175664167
7 CHN1 NM_001822.5(CHN1): c.*643A> T single nucleotide variant Likely benign rs74780149 GRCh38 Chromosome 2, 174799473: 174799473
8 CHN1 NM_001822.5(CHN1): c.*643A> T single nucleotide variant Likely benign rs74780149 GRCh37 Chromosome 2, 175664201: 175664201
9 CHN1 NM_001822.5(CHN1): c.*608A> G single nucleotide variant Uncertain significance rs886055153 GRCh38 Chromosome 2, 174799508: 174799508
10 CHN1 NM_001822.5(CHN1): c.*608A> G single nucleotide variant Uncertain significance rs886055153 GRCh37 Chromosome 2, 175664236: 175664236
11 CHN1 NM_001822.5(CHN1): c.*214dupT duplication Uncertain significance rs574270883 GRCh38 Chromosome 2, 174799902: 174799902
12 CHN1 NM_001822.5(CHN1): c.*214dupT duplication Uncertain significance rs574270883 GRCh37 Chromosome 2, 175664630: 175664630
13 CHN1 NM_001822.5(CHN1): c.*154G> A single nucleotide variant Uncertain significance rs529610497 GRCh38 Chromosome 2, 174799962: 174799962
14 CHN1 NM_001822.5(CHN1): c.*154G> A single nucleotide variant Uncertain significance rs529610497 GRCh37 Chromosome 2, 175664690: 175664690
15 CHN1 NM_001822.5(CHN1): c.1319A> G (p.Asp440Gly) single nucleotide variant Uncertain significance rs369847378 GRCh38 Chromosome 2, 174800177: 174800177
16 CHN1 NM_001822.5(CHN1): c.1319A> G (p.Asp440Gly) single nucleotide variant Uncertain significance rs369847378 GRCh37 Chromosome 2, 175664905: 175664905
17 CHN1 NM_001822.5(CHN1): c.886+15G> A single nucleotide variant Likely benign rs12613075 GRCh38 Chromosome 2, 174812294: 174812294
18 CHN1 NM_001822.5(CHN1): c.886+15G> A single nucleotide variant Likely benign rs12613075 GRCh37 Chromosome 2, 175677022: 175677022
19 CHN1 NM_001822.5(CHN1): c.628-4dupT duplication Uncertain significance rs375494218 GRCh38 Chromosome 2, 174824522: 174824522
20 CHN1 NM_001822.5(CHN1): c.628-4dupT duplication Uncertain significance rs375494218 GRCh37 Chromosome 2, 175689250: 175689250
21 CHN1 NM_001822.5(CHN1): c.-298C> G single nucleotide variant Uncertain significance rs879722535 GRCh38 Chromosome 2, 175005210: 175005210
22 CHN1 NM_001822.5(CHN1): c.-298C> G single nucleotide variant Uncertain significance rs879722535 GRCh37 Chromosome 2, 175869938: 175869938
23 CHN1 NM_001822.5(CHN1): c.*687_*691delATTAA deletion Uncertain significance rs886055152 GRCh38 Chromosome 2, 174799425: 174799429
24 CHN1 NM_001822.5(CHN1): c.*687_*691delATTAA deletion Uncertain significance rs886055152 GRCh37 Chromosome 2, 175664153: 175664157
25 CHN1 NM_001822.5(CHN1): c.*28T> C single nucleotide variant Likely benign rs143852940 GRCh38 Chromosome 2, 174800088: 174800088
26 CHN1 NM_001822.5(CHN1): c.*28T> C single nucleotide variant Likely benign rs143852940 GRCh37 Chromosome 2, 175664816: 175664816
27 CHN1 NM_001822.5(CHN1): c.964+6T> G single nucleotide variant Uncertain significance rs764237103 GRCh38 Chromosome 2, 174811505: 174811505
28 CHN1 NM_001822.5(CHN1): c.964+6T> G single nucleotide variant Uncertain significance rs764237103 GRCh37 Chromosome 2, 175676233: 175676233
29 CHN1 NM_001822.5(CHN1): c.628-15_628-14delCT deletion Likely benign rs547068631 GRCh38 Chromosome 2, 174824532: 174824533
30 CHN1 NM_001822.5(CHN1): c.628-15_628-14delCT deletion Likely benign rs547068631 GRCh37 Chromosome 2, 175689260: 175689261
31 CHN1 NM_001822.5(CHN1): c.500C> T (p.Thr167Ile) single nucleotide variant Uncertain significance rs752956891 GRCh38 Chromosome 2, 174877889: 174877889
32 CHN1 NM_001822.5(CHN1): c.500C> T (p.Thr167Ile) single nucleotide variant Uncertain significance rs752956891 GRCh37 Chromosome 2, 175742617: 175742617
33 CHN1 NM_001822.5(CHN1): c.-36C> T single nucleotide variant Uncertain significance rs775399462 GRCh38 Chromosome 2, 175004948: 175004948
34 CHN1 NM_001822.5(CHN1): c.-36C> T single nucleotide variant Uncertain significance rs775399462 GRCh37 Chromosome 2, 175869676: 175869676
35 CHN1 NM_001822.5(CHN1): c.-68G> A single nucleotide variant Likely benign rs117866326 GRCh38 Chromosome 2, 175004980: 175004980
36 CHN1 NM_001822.5(CHN1): c.-68G> A single nucleotide variant Likely benign rs117866326 GRCh37 Chromosome 2, 175869708: 175869708
37 CHN1 NM_001822.5(CHN1): c.-104C> T single nucleotide variant Uncertain significance rs886055156 GRCh37 Chromosome 2, 175869744: 175869744
38 CHN1 NM_001822.5(CHN1): c.*734_*737delACTT deletion Likely benign rs66480716 GRCh38 Chromosome 2, 174799379: 174799382
39 CHN1 NM_001822.5(CHN1): c.*734_*737delACTT deletion Likely benign rs66480716 GRCh37 Chromosome 2, 175664107: 175664110
40 CHN1 NM_001822.5(CHN1): c.-104C> T single nucleotide variant Uncertain significance rs886055156 GRCh38 Chromosome 2, 175005016: 175005016
41 CHN1 NM_001822.5(CHN1): c.*668T> C single nucleotide variant Uncertain significance rs369718610 GRCh38 Chromosome 2, 174799448: 174799448
42 CHN1 NM_001822.5(CHN1): c.*668T> C single nucleotide variant Uncertain significance rs369718610 GRCh37 Chromosome 2, 175664176: 175664176
43 CHN1 NM_001822.5(CHN1): c.432G> C (p.Glu144Asp) single nucleotide variant Uncertain significance rs886055154 GRCh38 Chromosome 2, 174877957: 174877957
44 CHN1 NM_001822.5(CHN1): c.432G> C (p.Glu144Asp) single nucleotide variant Uncertain significance rs886055154 GRCh37 Chromosome 2, 175742685: 175742685
45 CHN1 NM_001822.5(CHN1): c.-74C> T single nucleotide variant Uncertain significance rs886055155 GRCh38 Chromosome 2, 175004986: 175004986
46 CHN1 NM_001822.5(CHN1): c.-74C> T single nucleotide variant Uncertain significance rs886055155 GRCh37 Chromosome 2, 175869714: 175869714
47 CHN1 NM_001822.5(CHN1): c.-160C> G single nucleotide variant Uncertain significance rs572040045 GRCh38 Chromosome 2, 175005072: 175005072
48 CHN1 NM_001822.5(CHN1): c.-160C> G single nucleotide variant Uncertain significance rs572040045 GRCh37 Chromosome 2, 175869800: 175869800
Sources

Expression for Duane Retraction Syndrome

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Search GEO for disease gene expression data for Duane Retraction Syndrome.
Sources

Pathways for Duane Retraction Syndrome

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GO Terms for Duane Retraction Syndrome

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Biological processes related to Duane Retraction Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of axonogenesis GO:0050770 9.16 CHN1 EPHA4
2 motor neuron axon guidance GO:0008045 8.96 CHN1 EPHA4
3 abducens nerve formation GO:0021599 8.62 HOXA1 MAFB

Molecular functions related to Duane Retraction Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ephrin receptor binding GO:0046875 8.62 CHN1 EPHA4
Sources

Sources for Duane Retraction Syndrome

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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