CMCS
MCID: CHD004
MIFTS: 46

Chudley-Mccullough Syndrome (CMCS)

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

Aliases & Classifications for Chudley-Mccullough Syndrome

MalaCards integrated aliases for Chudley-Mccullough Syndrome:

Name: Chudley-Mccullough Syndrome 56 52 58 73 29 13 6 39 71
Deafness, Sensorineural, with Partial Agenesis of the Corpus Callosum and Arachnoid Cysts 56 52
Arachnoid Cysts 43 71
Cmcs 56 73
Deafness, Bilateral Sensorineural, and Hydrocephalus Due to Foramen of Monro Obstruction 52
Sensorineural Deafness with Partial Agenesis of the Corpus Callosum and Arachnoid Cysts 73
Deafness, Autosomal Recessive 82, Formerly; Dfnb82, Formerly 56
Deafness, Autosomal Recessive 82, Formerly 56
Deafness Autosomal Recessive 82 73
Dfnb82, Formerly 56
Dfnb82 73

Characteristics:

Orphanet epidemiological data:

58
chudley-mccullough syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
hearing loss may be congenital or rapidly progressive leading to severe hearing loss by age 3 years


HPO:

31
chudley-mccullough syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 604213
UMLS via Orphanet 72 C1858695
Orphanet 58 ORPHA314597
MedGen 41 C1858695
UMLS 71 C0078981 C1858695

Summaries for Chudley-Mccullough Syndrome

OMIM : 56 Chudley-McCullough syndrome is an autosomal recessive neurologic disorder characterized by early-onset sensorineural deafness and specific brain anomalies on MRI, including hypoplasia of the corpus callosum, enlarged cysterna magna with mild focal cerebellar dysplasia, and nodular heterotopia. Some patients have hydrocephalus. Psychomotor development is normal (summary by Alrashdi et al., 2011). (604213)

MalaCards based summary : Chudley-Mccullough Syndrome, also known as deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts, is related to spinal intradural arachnoid cysts and tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies. An important gene associated with Chudley-Mccullough Syndrome is GPSM2 (G Protein Signaling Modulator 2). The drugs Nicotine and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and heart, and related phenotypes are hydrocephalus and intellectual disability, mild

UniProtKB/Swiss-Prot : 73 Chudley-McCullough syndrome: An autosomal recessive neurologic disorder characterized by early- onset sensorineural deafness and specific brain anomalies on MRI, including hypoplasia of the corpus callosum, enlarged cysterna magna with mild focal cerebellar dysplasia, and nodular heterotopia. Some patients have hydrocephalus. Psychomotor development is normal.

Related Diseases for Chudley-Mccullough Syndrome

Diseases related to Chudley-Mccullough Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 483)
# Related Disease Score Top Affiliating Genes
1 spinal intradural arachnoid cysts 12.9
2 tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies 12.9
3 pachygyria with mental retardation, seizures, and arachnoid cysts 12.7
4 chronic mucocutaneous candidiasis 12.2
5 intracranial cysts 12.1
6 arachnoid cysts, intracranial 12.0
7 melanosis, neurocutaneous 11.8
8 dandy-walker syndrome 11.6
9 craniopharyngioma 11.6
10 capillary malformations, congenital 11.6
11 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 11.5
12 acrocallosal syndrome 11.3
13 encephalocraniocutaneous lipomatosis 11.3
14 candidiasis, familial, 1 11.2
15 immunodeficiency 31c 11.2
16 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.9
17 sensorineural hearing loss 10.9
18 branchiootic syndrome 1 10.9
19 hydrocephalus 10.8
20 intracranial hypertension 10.7
21 corpus callosum, partial agenesis of, x-linked 10.7
22 autosomal recessive disease 10.7
23 headache 10.7
24 head injury 10.7
25 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.7
26 polymicrogyria 10.7
27 colpocephaly 10.7
28 ataxia and polyneuropathy, adult-onset 10.6
29 precocious puberty 10.6
30 hydrocephalus, congenital, 1 10.6
31 obstructive hydrocephalus 10.6
32 spinal arachnoiditis 10.6
33 arachnoiditis 10.6
34 spastic paraparesis 10.5
35 papilledema 10.4
36 cranial nerve palsy 10.4
37 radiculopathy 10.4
38 corpus callosum, agenesis of 10.4
39 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.4
40 cortical dysplasia, complex, with other brain malformations 10 10.4
41 nonsyndromic hearing loss 10.4
42 trigeminal neuralgia 10.4
43 osteoarthritis 10.4
44 meningioma, radiation-induced 10.4
45 normal pressure hydrocephalus 10.4
46 cauda equina syndrome 10.4
47 chiari malformation 10.4
48 meningioma, familial 10.4
49 spinal meningioma 10.4
50 secretory meningioma 10.4

Graphical network of the top 20 diseases related to Chudley-Mccullough Syndrome:



Diseases related to Chudley-Mccullough Syndrome

Symptoms & Phenotypes for Chudley-Mccullough Syndrome

Human phenotypes related to Chudley-Mccullough Syndrome:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 31 very rare (1%) HP:0000238
2 intellectual disability, mild 31 very rare (1%) HP:0001256
3 motor delay 31 very rare (1%) HP:0001270
4 ventriculomegaly 31 very rare (1%) HP:0002119
5 polymicrogyria 31 very rare (1%) HP:0002126
6 partial agenesis of the corpus callosum 31 very rare (1%) HP:0001338
7 gray matter heterotopia 31 very rare (1%) HP:0002282
8 severe sensorineural hearing impairment 31 very rare (1%) HP:0008625
9 arachnoid cyst 31 very rare (1%) HP:0100702
10 cerebellar dysplasia 31 very rare (1%) HP:0007033
11 seizure 31 very rare (1%) HP:0001250
12 cerebellar hypoplasia 31 HP:0001321
13 hypoplasia of the corpus callosum 31 HP:0002079
14 dysplastic corpus callosum 31 HP:0006989
15 large foramen magnum 31 HP:0002700

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
polymicrogyria
partial agenesis of the corpus callosum
dysplastic corpus callosum
seizures (uncommon)
arachnoid cysts
more
Head And Neck Ears:
hearing loss, sensorineural, severe-to-profound

Head And Neck Head:
hydrocephalus (variable)

Clinical features from OMIM:

604213

Drugs & Therapeutics for Chudley-Mccullough Syndrome

Drugs for Chudley-Mccullough Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nicotine Approved 54-11-5 942 89594
2
Ethanol Approved 64-17-5 702
3 Dermatologic Agents
4 Vaccines
5 Immunologic Factors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Predictive Value of Circulating Melanoma Cells (CMCs) in Metastatic Melanoma (MM) Patients Treated With Selective Inhibitors of BRAF Unknown status NCT01878396 Anti-B-RAF
2 Circulating Tumor Cells and Melanoma: Comparing the EPISPOT (EPithelial ImmunoSPOT) and CellSearch Techniques Completed NCT01558349
3 Diffusion Weighted Magnetic Resonance Imaging for the Characterization of Solitary Pulmonary Lesions Completed NCT02482181
4 Establishing the Pathophysiology of Primary Spinal Syringomyelia Completed NCT00011245
5 Synchronized Immunization NotifiCations Completed NCT02710318
6 Evaluation of Integrating Selected MIYCN Interventions in Existing Polio Eradication Platform of Project Concern International (PCI) in UP Completed NCT03368885
7 KRANIOPHARYNGEOM Registry 2019 Multicenter Registry for Patients With Childhood-onset Craniopharyngioma, Xanthogranuloma, Cysts of Rathke's Pouch, Meningioma, Pituitary Adenoma, Arachnoid Cysts Recruiting NCT04158284
8 Assessment of Cerebrospinal Fluid Flow Related Disorders Using a Phase-contrast Magnetic Resonance Imaging Technique. Recruiting NCT03656016
9 Interagency Collaboration To Improve Home Care of Children With Medical Complexity. Recruiting NCT03978468
10 Chinese Multi-provincial Cohort Study-Beijing Project Enrolling by invitation NCT04253054

Search NIH Clinical Center for Chudley-Mccullough Syndrome

Cochrane evidence based reviews: arachnoid cysts

Genetic Tests for Chudley-Mccullough Syndrome

Genetic tests related to Chudley-Mccullough Syndrome:

# Genetic test Affiliating Genes
1 Chudley-Mccullough Syndrome 29 GPSM2

Anatomical Context for Chudley-Mccullough Syndrome

MalaCards organs/tissues related to Chudley-Mccullough Syndrome:

40
Brain, Bone, Heart, Colon, Skin, Pituitary, Bone Marrow

Publications for Chudley-Mccullough Syndrome

Articles related to Chudley-Mccullough Syndrome:

(show top 50) (show all 903)
# Title Authors PMID Year
1
GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome. 56 6 61
22578326 2012
2
A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss. 6 56
21348867 2012
3
Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82. 56 6
20602914 2010
4
Chudley-McCullough syndrome: another report and a brief review of the literature. 61 56
21127420 2011
5
Sensorineural deafness, hydrocephalus and structural brain abnormalities in two sisters: the Chudley-McCullough syndrome. 61 56
16642503 2006
6
Brothers with Chudley-McCullough syndrome: sensorineural deafness, agenesis of the corpus callosum, and other structural brain abnormalities. 61 56
14679590 2004
7
Chudley-McCullough syndrome: expanded phenotype and review of the literature. 61 56
12707963 2003
8
Chudley-McCullough syndrome: bilateral sensorineural deafness, hydrocephalus, and other structural brain abnormalities. 61 56
10607951 2000
9
Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. 56
19888295 2010
10
Bilateral sensorineural deafness, partial agenesis of the corpus callosum, and arachnoid cysts in two sisters. 56
10449658 1999
11
Bilateral sensorineural deafness and hydrocephalus due to foramen of Monro obstruction in sibs: a newly described autosomal recessive disorder. 56
9024571 1997
12
Carboxymethyl chitosan grafted trisiloxane surfactant nanoparticles with pH sensitivity for sustained release of pesticide. 61
32532386 2020
13
Biobased pH-responsive and self-healing hydrogels prepared from O-carboxymethyl chitosan and a 3-dimensional dynamer as cartilage engineering scaffold. 61
32536386 2020
14
Synthesis of cellulose microcrystals (CMC)/nylon 6,10 composite by incorporating CMC isolated from Pandanus ceylanicus. 61
32507174 2020
15
Cardiac mesenchymal cells from failing and nonfailing hearts limit ventricular dilation when administered late after infarction. 61
32442025 2020
16
Hemostatic, biocompatible, and antibacterial non-animal fungal mushroom-based carboxymethyl chitosan-ZnO nanocomposite for wound-healing applications. 61
32217121 2020
17
Modulating cationicity of chitosan hydrogel to prevent hypertrophic scar formation during wound healing. 61
32194120 2020
18
Transcatheter indirect mitral annuloplasty induces annular and left atrial remodelling in secondary mitral regurgitation. 61
32501644 2020
19
Respiratory syncytial virus associated hospitalizations among adults with chronic medical conditions. 61
32531019 2020
20
Early Impact of 13-Valent Pneumococcal Conjugate Vaccine Use on Invasive Pneumococcal Disease Among Adults With and Without Underlying Medical Conditions-United States. 61
31402387 2020
21
Predicting Metastasis in Melanoma by Enumerating Circulating Tumor Cells Using Photoacoustic Flow Cytometry. 61
32557708 2020
22
The effect of doxycycline-containing chitosan/carboxymethyl chitosan nanoparticles on NLRP3 inflammasome in periodontal disease. 61
32241426 2020
23
Impact of Chronic Medical Condition Development on Longitudinal Physical Function from Mid- to Early Late-Life: The Study of Women's Health Across the Nation. 61
31732730 2020
24
The effect of form of carboxymethyl-chitosan dressings on biological properties in wound healing. 61
32574929 2020
25
Antagonistic mixing in micelles of amphiphilic polyoxometalates and hexaethylene glycol monododecyl ether. 61
32554143 2020
26
Mechanically and functionally strengthened tissue adhesive of chitin whisker complexed chitosan/dextran derivatives based hydrogel. 61
32241433 2020
27
Effect of Stochastic Loading on Tensile Damage and Fracture of Fiber-Reinforced Ceramic-Matrix Composites. 61
32481748 2020
28
Different submicellar solubilization mechanisms revealed by 1H NMR and 2D diffusion ordered spectroscopy (DOSY). 61
32373824 2020
29
Amyloid Formation of α-Synuclein Based on the Solubility- and Supersaturation-Dependent Mechanism. 61
32271585 2020
30
Characterization of the molecular packing, thermotropic phase behaviour and critical micellar concentration of a homologous series of N-acyltaurines (n = 9-18). PXRD, DSC and fluorescence spectroscopic studies. 61
32460990 2020
31
Classical and non-classical melatonin receptor agonist-directed micellization of bipyridinium-based supramolecular amphiphiles in water. 61
32400822 2020
32
Systematic Review: Anxiety in Children and Adolescents With Chronic Medical Conditions. 61
31676391 2020
33
Ultrasonic nebulization-assisted layer-by-layer assembly based on carboxymethyl chitosan: An emerging alternative for promoting phenylpropanoid metabolism. 61
32505101 2020
34
Effects of environmental stresses on physiochemical stability of β-carotene in zein-carboxymethyl chitosan-tea polyphenols ternary delivery system. 61
31771910 2020
35
pH-responsive surface charge reversal carboxymethyl chitosan-based drug delivery system for pH and reduction dual-responsive triggered DOX release. 61
32172895 2020
36
Preparation and characterization of green carboxymethylchitosan (CMCS) - Polyvinyl alcohol (PVA) electrospun nanofibers containing gold nanoparticles (AuNPs) and its potential use as biomaterials. 61
32084475 2020
37
MgO/carboxymethyl chitosan nanocomposite improves thermal stability, waterproof and antibacterial performance for food packaging. 61
32172891 2020
38
CeO2:Mn3O4 Catalytic Micro-Converters Tuned for CH4 Detection Based on Catalytic Combustion under Real Operating Conditions. 61
32403264 2020
39
Graphene oxide based functionalized chitosan polyelectrolyte nanocomposite for targeted and pH responsive drug delivery. 61
32044367 2020
40
Interfacial Assembly and Jamming of Polyelectrolyte Surfactants: A Simple Route To Print Liquids in Low-Viscosity Solution. 61
32091190 2020
41
Predicting and comparing chronic water quality criteria from physicochemical properties of transition metals. 61
32050324 2020
42
Modeling Temperature-Dependent Vibration Damping in C/SiC Fiber-Reinforced Ceramic-Matrix Composites. 61
32244819 2020
43
Three-dimensional porous composite scaffolds for in vitro marrow microenvironment simulation to screen leukemia drug. 61
32045893 2020
44
Hybridization of carboxymethyl chitosan with MOFs to construct recyclable, long-acting and intelligent antibacterial agent carrier. 61
32059899 2020
45
In situ reduction of silver nanoparticles by sodium alginate to obtain silver-loaded composite wound dressing with enhanced mechanical and antimicrobial property. 61
31958554 2020
46
Preparation and characterization of carboxymethyl chitosan/collagen peptide/oxidized konjac composite hydrogel. 61
31954789 2020
47
Wound dressing from polyvinyl alcohol/chitosan electrospun fiber membrane loaded with OH-CATH30 nanoparticles. 61
31952594 2020
48
Cyclic-Dependent Damage Evolution in Self-Healing Woven SiC/[Si-B-C] Ceramic-Matrix Composites at Elevated Temperatures. 61
32214023 2020
49
Poor Self-Rated Health Is Associated with Hospitalization and Emergency Department Visits in African American Older Adults with Diabetes. 61
32185741 2020
50
The role of critical micellization concentration in efficacy and toxicity of supramolecular polymers. 61
32071209 2020

Variations for Chudley-Mccullough Syndrome

ClinVar genetic disease variations for Chudley-Mccullough Syndrome:

6 (show top 50) (show all 69) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GPSM2 NM_013296.5(GPSM2):c.1546_1553del (p.Cys516fs)deletion Pathogenic 523009 rs1553216524 1:109465142-109465149 1:108922520-108922527
2 GPSM2 NM_013296.5(GPSM2):c.379C>T (p.Arg127Ter)SNV Pathogenic 1823 rs267606854 1:109440214-109440214 1:108897592-108897592
3 GPSM2 NM_013296.5(GPSM2):c.1684C>T (p.Gln562Ter)SNV Pathogenic 30781 rs387907010 1:109466705-109466705 1:108924083-108924083
4 GPSM2 GPSM2, 1-BP DEL, 1473Gdeletion Pathogenic 35491
5 GPSM2 NM_013296.5(GPSM2):c.1661C>A (p.Ser554Ter)SNV Pathogenic 35493 rs145191476 1:109466682-109466682 1:108924060-108924060
6 GPSM2 NM_013296.5(GPSM2):c.1062+1G>TSNV Pathogenic 35494 rs777695770 1:109445857-109445857 1:108903235-108903235
7 GPSM2 NM_013296.5(GPSM2):c.742del (p.Gly249fs)deletion Pathogenic/Likely pathogenic 35492 rs528069912 1:109441560-109441560 1:108898938-108898938
8 GPSM2 NM_013296.5(GPSM2):c.1501del (p.Ser501fs)deletion Likely pathogenic 864860 1:109465097-109465097 1:108922475-108922475
9 GPSM2 NM_013296.5(GPSM2):c.1066G>A (p.Gly356Arg)SNV Conflicting interpretations of pathogenicity 45563 rs61754640 1:109446750-109446750 1:108904128-108904128
10 GPSM2 NM_013296.5(GPSM2):c.1216C>T (p.Arg406Trp)SNV Conflicting interpretations of pathogenicity 506755 rs141562079 1:109456983-109456983 1:108914361-108914361
11 GPSM2 NM_013296.5(GPSM2):c.2043G>A (p.Ser681=)SNV Conflicting interpretations of pathogenicity 45566 rs140949805 1:109472550-109472550 1:108929928-108929928
12 GPSM2 NM_013296.5(GPSM2):c.1263+11G>ASNV Conflicting interpretations of pathogenicity 291704 rs201878481 1:109457041-109457041 1:108914419-108914419
13 GPSM2 NM_013296.5(GPSM2):c.1739C>T (p.Ser580Leu)SNV Conflicting interpretations of pathogenicity 178376 rs79730689 1:109466760-109466760 1:108924138-108924138
14 GPSM2 NM_013296.5(GPSM2):c.186C>T (p.Ser62=)SNV Conflicting interpretations of pathogenicity 179453 rs199575734 1:109439615-109439615 1:108896993-108896993
15 GPSM2 NM_013296.5(GPSM2):c.833G>A (p.Arg278Gln)SNV Conflicting interpretations of pathogenicity 730883 1:109444447-109444447 1:108901825-108901825
16 GPSM2 NM_013296.5(GPSM2):c.*7T>CSNV Conflicting interpretations of pathogenicity 386577 rs193138520 1:109472569-109472569 1:108929947-108929947
17 GPSM2 NM_013296.5(GPSM2):c.*468T>GSNV Uncertain significance 291717 rs568302826 1:109473030-109473030 1:108930408-108930408
18 GPSM2 NM_013296.5(GPSM2):c.-306C>ASNV Uncertain significance 291697 rs550061353 1:109419793-109419793 1:108877171-108877171
19 GPSM2 NM_013296.5(GPSM2):c.1909C>T (p.Arg637Trp)SNV Uncertain significance 211100 rs189033496 1:109472416-109472416 1:108929794-108929794
20 GPSM2 NM_013296.5(GPSM2):c.683G>A (p.Arg228His)SNV Uncertain significance 291701 rs757559568 1:109441502-109441502 1:108898880-108898880
21 GPSM2 NM_013296.5(GPSM2):c.-486G>CSNV Uncertain significance 291689 rs190373749 1:109419613-109419613 1:108876991-108876991
22 GPSM2 NM_013296.5(GPSM2):c.-245T>ASNV Uncertain significance 291699 rs886045024 1:109427900-109427900 1:108885278-108885278
23 GPSM2 NM_013296.5(GPSM2):c.1358A>G (p.Lys453Arg)SNV Uncertain significance 291706 rs200378397 1:109461329-109461329 1:108918707-108918707
24 GPSM2 NM_013296.5(GPSM2):c.1799T>A (p.Ile600Asn)SNV Uncertain significance 291708 rs779688224 1:109466820-109466820 1:108924198-108924198
25 GPSM2 NM_013296.5(GPSM2):c.-397C>GSNV Uncertain significance 291694 rs749825634 1:109419702-109419702 1:108877080-108877080
26 GPSM2 NM_013296.5(GPSM2):c.-369G>ASNV Uncertain significance 291695 rs886045023 1:109419730-109419730 1:108877108-108877108
27 GPSM2 NM_013296.5(GPSM2):c.1244T>C (p.Met415Thr)SNV Uncertain significance 291703 rs150152015 1:109457011-109457011 1:108914389-108914389
28 GPSM2 NM_013296.5(GPSM2):c.*467G>TSNV Uncertain significance 291716 rs548199963 1:109473029-109473029 1:108930407-108930407
29 GPSM2 NM_013296.5(GPSM2):c.278G>A (p.Arg93Lys)SNV Uncertain significance 291700 rs757227955 1:109439707-109439707 1:108897085-108897085
30 GPSM2 NM_013296.5(GPSM2):c.*322T>CSNV Uncertain significance 291713 rs886045027 1:109472884-109472884 1:108930262-108930262
31 GPSM2 NM_013296.5(GPSM2):c.-469C>GSNV Uncertain significance 291690 rs541910644 1:109419630-109419630 1:108877008-108877008
32 GPSM2 NM_013296.5(GPSM2):c.-441G>CSNV Uncertain significance 291691 rs886045022 1:109419658-109419658 1:108877036-108877036
33 GPSM2 NM_013296.5(GPSM2):c.-426G>ASNV Uncertain significance 291693 rs527368687 1:109419673-109419673 1:108877051-108877051
34 GPSM2 NM_013296.5(GPSM2):c.-357C>TSNV Uncertain significance 291696 rs564045797 1:109419742-109419742 1:108877120-108877120
35 GPSM2 NM_013296.5(GPSM2):c.1356G>A (p.Gly452=)SNV Uncertain significance 291705 rs377658968 1:109461327-109461327 1:108918705-108918705
36 GPSM2 NM_013296.5(GPSM2):c.1910G>A (p.Arg637Gln)SNV Uncertain significance 291709 rs765367400 1:109472417-109472417 1:108929795-108929795
37 GPSM2 NM_013296.5(GPSM2):c.2040A>G (p.Lys680=)SNV Uncertain significance 291710 rs142663817 1:109472547-109472547 1:108929925-108929925
38 GPSM2 NM_013296.5(GPSM2):c.1034C>G (p.Ala345Gly)SNV Uncertain significance 505415 rs765450533 1:109445828-109445828 1:108903206-108903206
39 GPSM2 NM_013296.5(GPSM2):c.529G>A (p.Ala177Thr)SNV Uncertain significance 45569 rs397517232 1:109440695-109440695 1:108898073-108898073
40 GPSM2 NM_013296.5(GPSM2):c.-453C>TSNV Uncertain significance 876503 1:109419646-109419646 1:108877024-108877024
41 GPSM2 NM_013296.5(GPSM2):c.-316C>TSNV Uncertain significance 873607 1:109419783-109419783 1:108877161-108877161
42 GPSM2 NM_013296.5(GPSM2):c.-288C>ASNV Uncertain significance 873608 1:109419811-109419811 1:108877189-108877189
43 GPSM2 NM_013296.5(GPSM2):c.274G>A (p.Ala92Thr)SNV Uncertain significance 874608 1:109439703-109439703 1:108897081-108897081
44 GPSM2 NM_013296.5(GPSM2):c.597G>A (p.Ala199=)SNV Uncertain significance 875531 1:109441303-109441303 1:108898681-108898681
45 GPSM2 NM_013296.5(GPSM2):c.807A>G (p.Leu269=)SNV Uncertain significance 875532 1:109444421-109444421 1:108901799-108901799
46 GPSM2 NM_013296.5(GPSM2):c.1472G>C (p.Gly491Ala)SNV Uncertain significance 873665 1:109465070-109465070 1:108922448-108922448
47 GPSM2 NM_013296.5(GPSM2):c.1665G>C (p.Gln555His)SNV Uncertain significance 873666 1:109466686-109466686 1:108924064-108924064
48 GPSM2 NM_013296.5(GPSM2):c.1694G>A (p.Ser565Asn)SNV Uncertain significance 873667 1:109466715-109466715 1:108924093-108924093
49 GPSM2 NM_013296.5(GPSM2):c.*208A>GSNV Uncertain significance 874649 1:109472770-109472770 1:108930148-108930148
50 GPSM2 NM_013296.5(GPSM2):c.*351C>TSNV Uncertain significance 874650 1:109472913-109472913 1:108930291-108930291

Expression for Chudley-Mccullough Syndrome

Search GEO for disease gene expression data for Chudley-Mccullough Syndrome.

Pathways for Chudley-Mccullough Syndrome

GO Terms for Chudley-Mccullough Syndrome

Sources for Chudley-Mccullough Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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