ARCND1
MCID: ARC016
MIFTS: 49

Auriculocondylar Syndrome 1 (ARCND1)

Categories: Ear diseases, Genetic diseases

Aliases & Classifications for Auriculocondylar Syndrome 1

MalaCards integrated aliases for Auriculocondylar Syndrome 1:

Name: Auriculocondylar Syndrome 1 58 76 30 13 6
Stomatognathic System Abnormalities 45 74
Question Mark Ears Syndrome 58 76
Dysgnathia Complex 76 74
Arcnd1 58 76
Auriculocondylar Syndrome, Type 1 41
Auriculo-Condylar Syndrome 74
Acs 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
congenital disorder
variable phenotype within families


HPO:

33
auriculocondylar syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Auriculocondylar Syndrome 1

UniProtKB/Swiss-Prot : 76 Auriculocondylar syndrome 1: An autosomal dominant craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia.

MalaCards based summary : Auriculocondylar Syndrome 1, also known as stomatognathic system abnormalities, is related to auriculo-condylar syndrome and angioedema induced by ace inhibitors, and has symptoms including apnea and snoring. An important gene associated with Auriculocondylar Syndrome 1 is GNAI3 (G Protein Subunit Alpha I3), and among its related pathways/superpathways are Toll-like Receptor Signaling Pathway and Aldosterone synthesis and secretion. The drugs Bupivacaine and Dexmedetomidine have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and kidney, and related phenotypes are glossoptosis and micrognathia

OMIM : 58 Auriculocondylar syndrome (ARCND) is an autosomal dominant disorder of the first and second pharyngeal arches and is characterized by malformed ears (question mark ears), prominent cheeks, microstomia, abnormal temporomandibular joint, and mandibular condyle hypoplasia (summary by Masotti et al., 2008). (602483)

Related Diseases for Auriculocondylar Syndrome 1

Diseases in the Auriculocondylar Syndrome 1 family:

Auriculocondylar Syndrome 2 Auriculocondylar Syndrome 3

Diseases related to Auriculocondylar Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 527)
# Related Disease Score Top Affiliating Genes
1 auriculo-condylar syndrome 32.0 GNAI3 PLCB4
2 angioedema induced by ace inhibitors 12.7
3 dysgnathia complex 12.6
4 acrocallosal syndrome 12.0
5 agnathia-otocephaly complex 11.9
6 saethre-chotzen syndrome 11.7
7 pfeiffer syndrome 11.6
8 stroke, ischemic 11.4
9 farber lipogranulomatosis 11.4
10 apert syndrome 11.3
11 spondylometaepiphyseal dysplasia, short limb-hand type 11.2
12 auriculocondylar syndrome 2 11.1
13 auriculocondylar syndrome 3 11.1
14 angioedema, hereditary, type i 11.0
15 fabry disease 11.0
16 glomerulopathy with fibronectin deposits 2 11.0
17 angular cheilitis 11.0
18 acrodermatitis 11.0
19 syncope 11.0
20 fainting 11.0
21 rere-related disorders 10.6
22 angioedema 10.6
23 myocardial infarction 10.6
24 ischemia 10.5
25 microvascular complications of diabetes 3 10.5
26 microvascular complications of diabetes 4 10.5
27 microvascular complications of diabetes 6 10.5
28 microvascular complications of diabetes 7 10.5
29 hypertension, essential 10.4
30 disorganization, mouse, homolog of 10.4
31 diabetes mellitus 10.4
32 acute myocardial infarction 10.4
33 arteries, anomalies of 10.4
34 congestive heart failure 10.4
35 coronary artery anomaly 10.3
36 bestrophinopathy, autosomal recessive 10.3
37 kidney disease 10.3
38 heart disease 10.3
39 iga glomerulonephritis 10.3
40 alzheimer disease 10.2
41 monocular esotropia 10.2
42 esotropia 10.2
43 microphthalmia, syndromic 5 10.2
44 atrial fibrillation 10.2
45 hemorrhage, intracerebral 10.1
46 renovascular hypertension 10.1
47 dementia 10.1
48 vascular disease 10.1
49 breast cancer 10.1
50 coronary heart disease 1 10.1

Graphical network of the top 20 diseases related to Auriculocondylar Syndrome 1:



Diseases related to Auriculocondylar Syndrome 1

Symptoms & Phenotypes for Auriculocondylar Syndrome 1

Human phenotypes related to Auriculocondylar Syndrome 1:

33 (show all 25)
# Description HPO Frequency HPO Source Accession
1 glossoptosis 33 very rare (1%) HP:0000162
2 micrognathia 33 very rare (1%) HP:0000347
3 narrow mouth 33 very rare (1%) HP:0000160
4 stenosis of the external auditory canal 33 very rare (1%) HP:0000402
5 macrocephaly 33 HP:0000256
6 low-set ears 33 HP:0000369
7 dental malocclusion 33 HP:0000689
8 cleft palate 33 HP:0000175
9 apnea 33 HP:0002104
10 dental crowding 33 HP:0000678
11 round face 33 HP:0000311
12 preauricular skin tag 33 HP:0000384
13 cupped ear 33 HP:0000378
14 posteriorly rotated ears 33 HP:0000358
15 mandibular condyle hypoplasia 33 HP:0007628
16 snoring 33 HP:0025267
17 mandibular condyle aplasia 33 HP:0007627
18 speech articulation difficulties 33 HP:0009088
19 hypoplastic superior helix 33 HP:0008559
20 anterior open-bite malocclusion 33 HP:0009102
21 overfolding of the superior helices 33 HP:0004453
22 ankylosis 33 HP:0031013
23 cleft at the superior portion of the pinna 33 HP:0008537
24 impaired mastication 33 HP:0005216
25 postauricular skin tag 33 HP:0004451

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
posteriorly rotated ears
overfolding of the superior helices
malformed ears
auricular clefts
more
Head And Neck Face:
micrognathia
prominent cheeks
round facial appearance

Skeletal Skull:
mandibular condyle hypoplasia
mandibular condyle aplasia
short mandibular rami
mandibular agenesis
asymmetric mandible
more
Head And Neck Head:
macrocephaly (25%)

Head And Neck Mouth:
cleft palate
speech articulation difficulties
microstomia (52%)
glossoptosis (46%)
abnormal palate (63%)
more
Respiratory:
apnea
snoring
respiratory difficulties due to orofacial malformations (36%)

Head And Neck Teeth:
malocclusion
posterior crossbite
crowded teeth
open anterior bite

Clinical features from OMIM:

602483

UMLS symptoms related to Auriculocondylar Syndrome 1:


apnea, snoring

Drugs & Therapeutics for Auriculocondylar Syndrome 1

Drugs for Auriculocondylar Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 174)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bupivacaine Approved, Investigational Phase 4,Phase 2,Phase 3,Not Applicable 38396-39-3, 2180-92-9 2474
2
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 2 113775-47-6 5311068 68602
3
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
4
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
5
Tranexamic Acid Approved Phase 4,Phase 3 1197-18-8 5526
6
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
7
Ibuprofen Approved Phase 4,Early Phase 1 15687-27-1 3672
8
Nicardipine Approved, Investigational Phase 4 55985-32-5 4474
9
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
10
Remifentanil Approved Phase 4 132875-61-7 60815
11
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
12
Codeine Approved, Illicit Phase 4 76-57-3 5284371
13
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
14 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
15 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
16 Anesthetics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
17 Central Nervous System Depressants Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
18 Hormone Antagonists Phase 4
19 Adrenergic alpha-Agonists Phase 4,Phase 2
20 Anti-Inflammatory Agents Phase 4,Early Phase 1
21 Hormones Phase 4
22 Adrenergic alpha-2 Receptor Agonists Phase 4,Phase 2
23 Adrenergic Agonists Phase 4,Phase 2
24 Adrenergic Agents Phase 4,Phase 2
25 Analgesics Phase 4,Phase 2,Phase 3,Early Phase 1,Not Applicable
26 Gastrointestinal Agents Phase 4,Phase 1,Phase 2
27 Antiemetics Phase 4
28 Anesthetics, Local Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
29 Antineoplastic Agents, Hormonal Phase 4
30 Analgesics, Non-Narcotic Phase 4,Phase 2,Early Phase 1,Not Applicable
31
protease inhibitors Phase 4
32 Hypnotics and Sedatives Phase 4,Phase 2
33 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
34 glucocorticoids Phase 4
35 Autonomic Agents Phase 4
36 HIV Protease Inhibitors Phase 4
37 BB 1101 Phase 4
38 Fibrin Tissue Adhesive Phase 4
39 Hemostatics Phase 4,Phase 3
40 Coagulants Phase 4,Phase 3
41 Antifibrinolytic Agents Phase 4,Phase 3
42 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Not Applicable
43 Acetaminophen, hydrocodone drug combination Phase 4
44 Calcium, Dietary Phase 4
45 Antihypertensive Agents Phase 4,Phase 2
46 Anesthetics, Inhalation Phase 4
47 Platelet Aggregation Inhibitors Phase 4
48 Anesthetics, General Phase 4,Phase 2,Phase 3,Not Applicable
49 Analgesics, Opioid Phase 4,Not Applicable
50 Narcotics Phase 4,Not Applicable

Interventional clinical trials:

(show top 50) (show all 221)
# Name Status NCT ID Phase Drugs
1 Dexmedetomidine as Adjuvant for Bupivacaine in Ultrasound Guided Infraorbital Nerve Block for Cleft Lip Repair Recruiting NCT03480607 Phase 4 Dexmedetomidine group;Dexamethasone group
2 The Use of Fibrin Sealant to Reduce Post Operative Pain in Cleft Palate Surgery Recruiting NCT02953145 Phase 4 Tisseel
3 Dexmedetomidine vs Placebo for Pediatric Cleft Palate Repair Withdrawn NCT02915042 Phase 4 Dexmedetomidine;Placebo
4 Acid Tranexamic Effectiveness in Reducing the Intraoperative Bleeding in Palatoplasty Completed NCT02422056 Phase 4 Tranexamic Acid;Saline
5 Guided Bone Regeneration Around Immediate Implants Completed NCT01628367 Phase 4 Medications
6 The Effect of Deliberate Hypotension on QTc, Tp-e Intervals and Heart Rate Variability Completed NCT01634594 Phase 4 Group R;Group N;Group D
7 Double Blind Randomized Study Into the Efficacy of Codeine Phosphate Analgesia After Cleft Palate Repair in Infants Completed NCT00386269 Phase 4 Codeine Phosphate Analgesia
8 Botulinum Toxin to Improve Results in Cleft Lip Repair Unknown status NCT01429402 Phase 3 Botulinum Toxin Type A;Botulinum Type A;Normal Saline;Normal Saline
9 Comparative Results of Maxillary Deficiency Treatment by Fixed Tongue Appliance and Fixed Facemask in Growing Patients Unknown status NCT00916084 Phase 3
10 Bone Tissue Engineering With Dental Pulp Stem Cells for Alveolar Cleft Repair Not yet recruiting NCT03766217 Phase 3
11 Silicone Gel in the Treatment of Cleft Lip Scars Completed NCT03314090 Phase 3 Silicone Gels
12 Comparative Study Between Levobupivacaine and Bupivacaine for Nerve Block During Pediatric Primary Cleft Palate Surgery Completed NCT02923869 Phase 2, Phase 3 Levobupivacaine;Bupivacaine
13 Preventive EXACYL® on Perioperative Bleeding During Orthognathism of Maxillary Surgery Recruiting NCT02702128 Phase 3 Tranexamic Acid;saline solution
14 Infra-orbital Nerve Block for Post Operative Analgesia in Children Undergoing Cleft Lip Surgery. Completed NCT02514980 Phase 2, Phase 3 Bupivacaine;Ketamine
15 Lateral Ridge Augmentation Using Autogenous Bone Blocks or Xenogenic Bone Block Grafts Loaded With Recombinant Human Bone Morphogenic Protein 2 Active, not recruiting NCT01541345 Phase 3 InductOs
16 Oral Cleft Prevention Program Completed NCT00397917 Phase 3 Folic acid: 4 mg versus 0.4 mg per day
17 Oral Cleft Prevention Trial in Brazil Completed NCT00098319 Phase 3 Folic acid (0.4mg vs. 4.0mg)
18 Comparative Results of Maxillary Deficiency Treatment by Tongue Plate and Facemask in Growing Patients Completed NCT00519415 Phase 3
19 Effects of Oral Melatonin on Neurosensory Recovery Following Facial Osteotomies Unknown status NCT02889432 Phase 2 Oral Melatonin 10mg;Placebo
20 Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome Unknown status NCT00004347 Phase 2
21 Effect of Platelet Rich Plasma (PRP) on the Esthetic Outcome and Scar Formation of Unilateral Cleft Lip Repair Terminated NCT02958306 Phase 2
22 Cleft Orthognathic Surgery Versus Distraction Osteogenesis - Which is Better? Completed NCT00930124 Phase 2
23 Smith-Lemli-Opitz Syndrome and Cholic Acid Not yet recruiting NCT03720990 Phase 1, Phase 2 Cholic Acid
24 Suprazygomatic Block in Cleft Palate Surgery in Children Completed NCT03412474 Phase 2 Bupivacaine;Dexmedetomidine;paracetamol
25 Improvement of the Appearance of Cleft Lip Scars Using Botox Recruiting NCT02247193 Phase 1, Phase 2 Botulinum Toxin Type A;Normal Saline Injection
26 Does Use of Rigid Fixation After Removing Distraction Osteogenesis Device Reduce the Relapse? Completed NCT02350803 Phase 2
27 Ambrisentan in Single Ventricle Active, not recruiting NCT02080637 Phase 2 Ambrisentan
28 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
29 IV Acetaminophen in Children Undergoing Palatoplasty Withdrawn NCT01760330 Phase 2 IV acetaminophen;Placebo
30 Cell Therapy for Craniofacial Bone Defects Completed NCT01616953 Phase 1, Phase 2
31 Preventing Complications in Cleft Palate Repair With Antibiotics Completed NCT00760006 Phase 2 Unasyn
32 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2 crystalline cholesterol oil-based suspension
33 Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
34 Cleft Palate Surgery and Speech Development Completed NCT00004639 Phase 2
35 Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2 Simvastatin Susp.;OraPlus
36 Effect of the Innovated Seifi's Functional Appliance on Skeletal and Dentoalveolar Changes of Class II/ 1, Deep Bite Unknown status NCT00688233 Phase 1
37 Antimicrobial Photodynamic Therapy on Teeth With Molar Incisor Hypomineralization Not yet recruiting NCT03904641 Phase 1
38 Effect of Low-intensity Laser and Photodynamic Therapy on Infected Dentin of Permanent Teeth With MIH Completed NCT03826810 Phase 1
39 A Histomorphometric Analysis Following Sinus Augmentation Using Two Different Bone Graft Materials. Active, not recruiting NCT03059914 Phase 1
40 Periodontal Ligament Stress Level and Tooth Movement Completed NCT00099814 Phase 1
41 Improving Informed Consent for Cleft Palate Repair Unknown status NCT02595307 Not Applicable
42 Linkage and Identification of (a) Candidate Gene(s) for Tooth Disorders Unknown status NCT00026026
43 Vertical Augmentation With Osteon at Dental Implant Placement Unknown status NCT01162629
44 E. Max Laminate Veneers With and Without Using Galla Chinnesis as Natural Cross Linking and Remineralizing Agent Unknown status NCT02994862 Not Applicable
45 Evaluation of the Effect of Botulinum Toxin Type-A Injection Prior to Surgical Correction of Complete Unilateral Cleft Lip Repair by Modified Millard Cheiloplasty Unknown status NCT03047499 Botulinum toxin type A
46 Parent's Satisfaction and Evaluation of Postsurgical Outcomes in Unilateral Cleft Lip / Palate Newly Born Infants With / Without Vacuum Formed Nasoalveolar Molding Aligners : A Controlled Clinical Trial Unknown status NCT03011489 Not Applicable
47 Biochemical and Histological Comparison of Nasal and Auricular Cartilage in the Fetus and Newborn With Cleft Lip Carrier Unknown status NCT02505360 Not Applicable
48 Alveolar Bone Grafting Outcome Between Patient With and Without Orthodontic Treatment Unknown status NCT02454998 Not Applicable
49 Comparison of Two Nasoalveolar Molding Techniques in Complete Unilateral Cleft Lip Patient Unknown status NCT01883726 Not Applicable
50 One-Piece Le Fort I Osteotomy Versus Segmental Le Fort I Osteotomy Unknown status NCT01871623 Not Applicable

Search NIH Clinical Center for Auriculocondylar Syndrome 1

Cochrane evidence based reviews: stomatognathic system abnormalities

Genetic Tests for Auriculocondylar Syndrome 1

Genetic tests related to Auriculocondylar Syndrome 1:

# Genetic test Affiliating Genes
1 Auriculocondylar Syndrome 1 30 GNAI3

Anatomical Context for Auriculocondylar Syndrome 1

MalaCards organs/tissues related to Auriculocondylar Syndrome 1:

42
Bone, Heart, Kidney, Prostate, Skin, Liver, Breast

Publications for Auriculocondylar Syndrome 1

Articles related to Auriculocondylar Syndrome 1:

# Title Authors Year
1
Dysgnathia complex sine holoprosencephaly nor synotia: a case report and discussion of its nosology. ( 23610864 )
2013
2
Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2. ( 24167467 )
2013
3
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome. ( 23315542 )
2013
4
OTX2 mutations contribute to the otocephaly-dysgnathia complex. ( 22577225 )
2012
5
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. ( 22560091 )
2012
6
[Dysgnathia complex, a rare deviation]. ( 18686566 )
2008
7
Computed tomographic reconstruction of a fetus with the dysgnathia complex (agnathia-otocephaly). ( 17152114 )
2007
8
Airway management during an EXIT procedure for a fetus with dysgnathia complex. ( 15330963 )
2004
9
Transmission of the dysgnathia complex from mother to daughter. ( 11102934 )
2000

Variations for Auriculocondylar Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Auriculocondylar Syndrome 1:

76
# Symbol AA change Variation ID SNP ID
1 GNAI3 p.Gly40Arg VAR_068558 rs387907178

ClinVar genetic disease variations for Auriculocondylar Syndrome 1:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 GNAI3 NM_006496.3(GNAI3): c.118G> C (p.Gly40Arg) single nucleotide variant Pathogenic rs387907178 GRCh37 Chromosome 1, 110091460: 110091460
2 GNAI3 NM_006496.3(GNAI3): c.118G> C (p.Gly40Arg) single nucleotide variant Pathogenic rs387907178 GRCh38 Chromosome 1, 109548838: 109548838
3 PLCB4 NM_000933.3(PLCB4): c.1868A> G (p.Tyr623Cys) single nucleotide variant Pathogenic rs397514480 GRCh37 Chromosome 20, 9389733: 9389733
4 PLCB4 NM_000933.3(PLCB4): c.1868A> G (p.Tyr623Cys) single nucleotide variant Pathogenic rs397514480 GRCh38 Chromosome 20, 9409086: 9409086
5 PLCB4 NM_000933.3(PLCB4): c.1862G> A (p.Arg621His) single nucleotide variant Pathogenic/Likely pathogenic rs397514481 GRCh37 Chromosome 20, 9389727: 9389727
6 PLCB4 NM_000933.3(PLCB4): c.1862G> A (p.Arg621His) single nucleotide variant Pathogenic/Likely pathogenic rs397514481 GRCh38 Chromosome 20, 9409080: 9409080
7 PLCB4 NM_000933.3(PLCB4): c.1861C> T (p.Arg621Cys) single nucleotide variant Pathogenic rs397514482 GRCh37 Chromosome 20, 9389726: 9389726
8 PLCB4 NM_000933.3(PLCB4): c.1861C> T (p.Arg621Cys) single nucleotide variant Pathogenic rs397514482 GRCh38 Chromosome 20, 9409079: 9409079
9 PLCB4 NM_000933.3(PLCB4): c.1948A> C (p.Asn650His) single nucleotide variant Pathogenic rs397514483 GRCh37 Chromosome 20, 9389813: 9389813
10 PLCB4 NM_000933.3(PLCB4): c.1948A> C (p.Asn650His) single nucleotide variant Pathogenic rs397514483 GRCh38 Chromosome 20, 9409166: 9409166
11 GNAI3 NM_006496.3(GNAI3): c.141C> A (p.Ser47Arg) single nucleotide variant Pathogenic rs397514768 GRCh37 Chromosome 1, 110116381: 110116381
12 GNAI3 NM_006496.3(GNAI3): c.141C> A (p.Ser47Arg) single nucleotide variant Pathogenic rs397514768 GRCh38 Chromosome 1, 109573759: 109573759
13 PLCB4 NM_000933.3(PLCB4): c.986A> C (p.Asn329Thr) single nucleotide variant Pathogenic rs387907179 GRCh37 Chromosome 20, 9364980: 9364980
14 PLCB4 NM_000933.3(PLCB4): c.986A> C (p.Asn329Thr) single nucleotide variant Pathogenic rs387907179 GRCh38 Chromosome 20, 9384333: 9384333
15 GNAI3 NM_006496.3(GNAI3): c.146T> C (p.Ile49Thr) single nucleotide variant Uncertain significance rs1553223899 GRCh37 Chromosome 1, 110116386: 110116386
16 GNAI3 NM_006496.3(GNAI3): c.146T> C (p.Ile49Thr) single nucleotide variant Uncertain significance rs1553223899 GRCh38 Chromosome 1, 109573764: 109573764

Expression for Auriculocondylar Syndrome 1

Search GEO for disease gene expression data for Auriculocondylar Syndrome 1.

Pathways for Auriculocondylar Syndrome 1

Pathways related to Auriculocondylar Syndrome 1 according to GeneCards Suite gene sharing:

(show all 32)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.59 GNAI3 PLCB4
2
Show member pathways
12.5 GNAI3 PLCB4
3
Show member pathways
12.41 GNAI3 PLCB4
4
Show member pathways
12.38 GNAI3 PLCB4
5 12.36 GNAI3 PLCB4
6
Show member pathways
12.28 GNAI3 PLCB4
7
Show member pathways
12.27 GNAI3 PLCB4
8
Show member pathways
12.21 GNAI3 PLCB4
9
Show member pathways
12.2 GNAI3 PLCB4
10
Show member pathways
12.19 GNAI3 PLCB4
11
Show member pathways
12.11 GNAI3 PLCB4
12
Show member pathways
12.08 GNAI3 PLCB4
13 11.97 GNAI3 PLCB4
14 11.91 GNAI3 PLCB4
15
Show member pathways
11.88 GNAI3 PLCB4
16
Show member pathways
11.75 GNAI3 PLCB4
17
Show member pathways
11.74 GNAI3 PLCB4
18 11.63 GNAI3 PLCB4
19 11.57 GNAI3 PLCB4
20
Show member pathways
11.53 GNAI3 PLCB4
21 11.53 GNAI3 PLCB4
22
Show member pathways
11.5 GNAI3 PLCB4
23 11.49 GNAI3 PLCB4
24 11.43 GNAI3 PLCB4
25 11.38 GNAI3 PLCB4
26 11.35 GNAI3 PLCB4
27 11.2 GNAI3 PLCB4
28 10.99 GNAI3 PLCB4
29 10.95 GNAI3 PLCB4
30 10.79 GNAI3 PLCB4
31 10.73 GNAI3 PLCB4
32 10.07 GNAI3 PLCB4

GO Terms for Auriculocondylar Syndrome 1

Sources for Auriculocondylar Syndrome 1

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
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