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MCID: DNR001
MIFTS: 43

Duane Retraction Syndrome

Categories: Neuronal diseases, Eye diseases, Fetal diseases, Rare diseases, Genetic 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 59 37 44 15 40 73
Stilling-Turk-Duane Syndrome 12 59
Duane's Syndrome 12
Duane Syndrome 59
Durs 59
Drs 59

Characteristics:

Orphanet epidemiological data:

59
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: 34
Orphanet: 59  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Duane Retraction Syndrome

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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 ophthalmoplegia and ophthalmoparesis. An important gene associated with Duane Retraction Syndrome is CHN1 (Chimerin 1). Affiliated tissues include eye, skin and heart, and related phenotypes are ectopic kidney and cleft palate

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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 64)
# Related Disease Score Top Affiliating Genes
1 duane retraction syndrome 2 34.7 CHN1 MAFB
2 duane retraction syndrome 1 34.7 DURS1 MAFB
3 duane syndrome type 2 32.9 CHN1 MAFB
4 duane-radial ray syndrome 32.3 CHN1 SALL4
5 strabismus 31.1 CHN1 KIF21A TUBB3
6 exotropia 29.2 CHN1 KIF21A TUBB3
7 esotropia 28.8 CHN1 TUBB3
8 isolated duane retraction syndrome 12.6
9 duane retraction syndrome 3 with or without deafness 12.5
10 duane syndrome type 1 11.3
11 duane syndrome type 3 11.1
12 retinitis 10.0
13 periostitis 10.0
14 type i 10.0
15 marcus gunn phenomenon 9.9 CHN1 TUBB3
16 achondroplasia 9.9
17 hemifacial microsomia with radial defects 9.9
18 solitary median maxillary central incisor 9.9
19 marfan syndrome 9.9
20 hemifacial microsomia 9.9
21 optic nerve hypoplasia, bilateral 9.9
22 vater/vacterl association 9.9
23 muscular dystrophy, duchenne type 9.9
24 retinitis pigmentosa-deafness syndrome 9.9
25 aging 9.9
26 focal segmental glomerulosclerosis 1 9.9
27 chromosome 16p13.3 deletion syndrome, proximal 9.9
28 bardet-biedl syndrome 2 9.9
29 bardet-biedl syndrome 10 9.9
30 bardet-biedl syndrome 11 9.9
31 bardet-biedl syndrome 12 9.9
32 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
33 brown syndrome 9.9
34 focal segmental glomerulosclerosis 9.9
35 usher syndrome 9.9
36 oculocutaneous albinism 9.9
37 usher syndrome type 2 9.9
38 cysticercosis 9.9
39 abducens nerve disease 9.9
40 heart disease 9.9
41 vacterl association 9.9
42 bardet-biedl syndrome 9.9
43 craniopharyngioma 9.9
44 fundus dystrophy 9.9
45 muscular dystrophy 9.9
46 albinism 9.9
47 chiari malformation 9.9
48 ependymoma 9.9
49 growth hormone deficiency 9.9
50 pachygyria 9.9

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:

59 32 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ectopic kidney 59 32 occasional (7.5%) Occasional (29-5%) HP:0000086
2 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
3 everted lower lip vermilion 59 32 occasional (7.5%) Occasional (29-5%) HP:0000232
4 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
5 facial asymmetry 59 32 occasional (7.5%) Occasional (29-5%) HP:0000324
6 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
7 preauricular skin tag 59 32 occasional (7.5%) Occasional (29-5%) HP:0000384
8 stenosis of the external auditory canal 59 32 occasional (7.5%) Occasional (29-5%) HP:0000402
9 sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000407
10 wide nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000431
11 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
12 webbed neck 59 32 occasional (7.5%) Occasional (29-5%) HP:0000465
13 short neck 59 32 occasional (7.5%) Occasional (29-5%) HP:0000470
14 microcornea 59 32 occasional (7.5%) Occasional (29-5%) HP:0000482
15 strabismus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000486
16 deeply set eye 59 32 frequent (33%) Frequent (79-30%) HP:0000490
17 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
18 aniridia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000526
19 chorioretinal coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000567
20 blepharophimosis 59 32 frequent (33%) Frequent (79-30%) HP:0000581
21 iris coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000612
22 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
23 blepharospasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0000643
24 amblyopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000646
25 hypopigmented skin patches 59 32 occasional (7.5%) Occasional (29-5%) HP:0001053
26 brachydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001156
27 preaxial hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001177
28 triphalangeal thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0001199
29 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
30 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
31 plagiocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001357
32 talipes equinovarus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001762
33 low posterior hairline 59 32 frequent (33%) Frequent (79-30%) HP:0002162
34 hypoplasia of the radius 59 32 occasional (7.5%) Occasional (29-5%) HP:0002984
35 skeletal muscle atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003202
36 spina bifida occulta 59 32 occasional (7.5%) Occasional (29-5%) HP:0003298
37 abnormal form of the vertebral bodies 59 32 occasional (7.5%) Occasional (29-5%) HP:0003312
38 absent radius 59 32 occasional (7.5%) Occasional (29-5%) HP:0003974
39 abnormal vertebral segmentation and fusion 59 32 frequent (33%) Frequent (79-30%) HP:0005640
40 irregular hyperpigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007400
41 optic disc hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0007766
42 central heterochromia 59 32 occasional (7.5%) Occasional (29-5%) HP:0007818
43 hypoplastic iris stroma 59 32 occasional (7.5%) Occasional (29-5%) HP:0007990
44 external ear malformation 59 32 occasional (7.5%) Occasional (29-5%) HP:0008572
45 aplasia/hypoplasia of the thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0009601
46 patchy hypopigmentation of hair 59 32 occasional (7.5%) Occasional (29-5%) HP:0011365
47 narrow internal auditory canal 59 32 occasional (7.5%) Occasional (29-5%) HP:0011386
48 oculomotor nerve palsy 59 32 hallmark (90%) Very frequent (99-80%) HP:0012246
49 camptodactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0012385
50 anorectal anomaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0012732

UMLS symptoms related to Duane Retraction Syndrome:


ophthalmoplegia, ophthalmoparesis

MGI Mouse Phenotypes related to Duane Retraction Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.23 CA8 CHN1 CHRNB3 COL25A1 EPHA4 HOXA1
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:

41
Eye, Skin, Heart, Kidney, Skeletal Muscle, Colon
Sources

Publications for Duane Retraction Syndrome

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Articles related to Duane Retraction Syndrome:

(show top 50) (show all 100)
# Title Authors Year
1
The Efficacy of Bilateral Lateral Rectus Recession According to Secondary Deviation Measurements in Unilateral Exotropic Duane Retraction Syndrome. ( 28991345 )
2018
2
A mutation in transcription factor MAFB causes Focal Segmental Glomerulosclerosis with Duane Retraction Syndrome. ( 29779709 )
2018
3
Augmented superior rectus transposition procedure in Duane retraction syndrome compared with sixth nerve palsy. ( 29299740 )
2018
4
Y-splitting with recession of lateral rectus versus lateral rectus recession in correcting upshoot in Duane retraction syndrome. ( 29018752 )
2017
5
Anomalous Lateral Rectus Muscle Band in a Case of Duane Retraction Syndrome. ( 29135308 )
2017
6
CHN1 gene mutation analysis in patients with Duane retraction syndrome. ( 29031989 )
2017
7
Postoperative full abduction in a patient of Duane retraction syndrome without an abducens nerve: a case report. ( 28526001 )
2017
8
Duane retraction syndrome: causes, effects and management strategies. ( 29133973 )
2017
9
Management of Duane retraction syndrome with prismatic glasses. ( 28442887 )
2017
10
Surgical treatment of Duane retraction syndrome. ( 29270470 )
2017
11
Mutant I+2-chimaerin signals via bidirectional ephrin pathways in Duane retraction syndrome. ( 28346224 )
2017
12
Unilateral lateral rectus cysticercosis presenting as Duane retraction syndrome type IIb. ( 28084290 )
2017
13
A simple and novel grading method for retraction and overshoot in Duane retraction syndrome. ( 27574176 )
2016
14
Duane retraction syndrome in a patient with Duchenne muscular dystrophy. ( 26849454 )
2016
15
Extraocular muscle dysinnervation disorder resembling Duane retraction syndrome in a 9-month-old French Bulldog. ( 27317499 )
2016
16
The genetics of nonsyndromic bilateral Duane retraction syndrome. ( 27658539 )
2016
17
A High Prevalence of Exotropia in Patients With Duane Retraction Syndrome in a Tertiary Eye Care Center in South India. ( 27977037 )
2016
18
Y-split recession vs isolated recession of the lateral rectus muscle in the treatment of vertical shooting in exotropic Duane retraction syndrome. ( 26833229 )
2016
19
Duane Retraction Syndrome Associated with a Small X Chromosome Deletion. ( 26891113 )
2016
20
Duane retraction syndrome type 1 with Usher syndrome type 2: an unreported association. ( 25955520 )
2015
21
Surgical management of strabismus in Duane retraction syndrome. ( 25727590 )
2015
22
Comparison of augmented superior rectus transposition with medial rectus recession for surgical management of esotropic Duane retraction syndrome. ( 26059662 )
2015
23
Modified Y-splitting Procedure for the Treatment of Duane Retraction Syndrome. ( 27800223 )
2015
24
Respond to: Management of exotropic Duane retraction syndrome. ( 25971189 )
2015
25
Evaluation of periosteal fixation of lateral rectus and partial VRT for cases of exotropic Duane retraction syndrome. ( 24618490 )
2014
26
Duane retraction syndrome in a Nigerian child. ( 25722769 )
2014
27
Comment on outcomes in patients with esotropic Duane retraction syndrome and a partially accommodative component. ( 25230971 )
2014
28
Duane retraction syndrome: A rare cause of strabismus. ( 25403117 )
2014
29
Does infantile abduction deficit indicate duane retraction syndrome until disproven? ( 24453144 )
2014
30
Microdeletions involving chromosomes 12 and 22 associated with syndromic Duane retraction syndrome. ( 24865192 )
2014
31
Abducens nerve in a patient with Duane retraction syndrome. ( 24767241 )
2014
32
Botulinum toxin treatment in patients up to 3 years of age who have esotropic Duane retraction syndrome. ( 23477770 )
2013
33
Inferior oblique myectomy for upshoots mimicking inferior oblique overaction in Duane retraction syndrome. ( 23672883 )
2013
34
Diversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome. ( 23687435 )
2013
35
Evaluation of periosteal fixation of lateral rectus and partial VRT for cases of exotropic Duane retraction syndrome. ( 24212222 )
2013
36
Outcomes in patients with esotropic duane retraction syndrome and a partially accommodative component. ( 24413823 )
2013
37
Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome. ( 24001015 )
2013
38
Bilateral type 3 Duane retraction syndrome with bilateral tilted disc syndrome. ( 22878473 )
2013
39
Is Duane retraction syndrome part of the VACTERL association? ( 23658476 )
2013
40
Partial Duplication of Chromosome 19 Associated with Syndromic Duane Retraction Syndrome. ( 23952617 )
2013
41
8q12 microduplication including CHD7: clinical report on a new patient with Duane retraction syndrome type 3. ( 24206642 )
2013
42
Contralateral lateral rectus muscle recession in patients with Duane retraction syndrome type 3. ( 24310235 )
2013
43
Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome. ( 24416505 )
2013
44
Duane retraction syndrome with posterior microphthalmos: a rare association. ( 22881831 )
2012
45
Axon guidance in the developing ocular motor system and Duane retraction syndrome depends on Semaphorin signaling via alpha2-chimaerin. ( 22912401 )
2012
46
Vertical deviation and A pattern of type III Duane retraction syndrome. ( 22932093 )
2012
47
A case of 9p deletion syndrome with Duane retraction syndrome. ( 27625822 )
2012
48
Duane retraction syndrome: series of 441 cases. ( 22074356 )
2012
49
Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay. ( 22258531 )
2012
50
Analysis of the SALL4 gene in patients with Duane retraction syndrome in a South Indian population. ( 21405998 )
2011
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 GRCh37 Chromosome 2, 175869938: 175869938
22 CHN1 NM_001822.5(CHN1): c.-298C> G single nucleotide variant Uncertain significance rs879722535 GRCh38 Chromosome 2, 175005210: 175005210
23 CHN1 NM_001822.5(CHN1): c.*28T> C single nucleotide variant Likely benign rs143852940 GRCh38 Chromosome 2, 174800088: 174800088
24 CHN1 NM_001822.5(CHN1): c.*28T> C single nucleotide variant Likely benign rs143852940 GRCh37 Chromosome 2, 175664816: 175664816
25 CHN1 NM_001822.5(CHN1): c.*687_*691delATTAA deletion Uncertain significance rs886055152 GRCh38 Chromosome 2, 174799425: 174799429
26 CHN1 NM_001822.5(CHN1): c.*687_*691delATTAA deletion Uncertain significance rs886055152 GRCh37 Chromosome 2, 175664153: 175664157
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.*668T> C single nucleotide variant Uncertain significance rs369718610 GRCh37 Chromosome 2, 175664176: 175664176
38 CHN1 NM_001822.5(CHN1): c.*668T> C single nucleotide variant Uncertain significance rs369718610 GRCh38 Chromosome 2, 174799448: 174799448
39 CHN1 NM_001822.5(CHN1): c.*734_*737delACTT deletion Likely benign rs66480716 GRCh38 Chromosome 2, 174799379: 174799382
40 CHN1 NM_001822.5(CHN1): c.*734_*737delACTT deletion Likely benign rs66480716 GRCh37 Chromosome 2, 175664107: 175664110
41 CHN1 NM_001822.5(CHN1): c.432G> C (p.Glu144Asp) single nucleotide variant Uncertain significance rs886055154 GRCh38 Chromosome 2, 174877957: 174877957
42 CHN1 NM_001822.5(CHN1): c.432G> C (p.Glu144Asp) single nucleotide variant Uncertain significance rs886055154 GRCh37 Chromosome 2, 175742685: 175742685
43 CHN1 NM_001822.5(CHN1): c.-74C> T single nucleotide variant Uncertain significance rs886055155 GRCh38 Chromosome 2, 175004986: 175004986
44 CHN1 NM_001822.5(CHN1): c.-74C> T single nucleotide variant Uncertain significance rs886055155 GRCh37 Chromosome 2, 175869714: 175869714
45 CHN1 NM_001822.5(CHN1): c.-104C> T single nucleotide variant Uncertain significance rs886055156 GRCh38 Chromosome 2, 175005016: 175005016
46 CHN1 NM_001822.5(CHN1): c.-104C> T single nucleotide variant Uncertain significance rs886055156 GRCh37 Chromosome 2, 175869744: 175869744
47 CHN1 NM_001822.5(CHN1): c.-160C> G single nucleotide variant Uncertain significance rs572040045 GRCh37 Chromosome 2, 175869800: 175869800
48 CHN1 NM_001822.5(CHN1): c.-160C> G single nucleotide variant Uncertain significance rs572040045 GRCh38 Chromosome 2, 175005072: 175005072
Sources

Expression for Duane Retraction Syndrome

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