Birk-Barel Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

BIBARS MCID: BRK002 MIFTS: 40	Birk-Barel Syndrome (BIBARS) Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Birk-Barel Syndrome

MalaCards integrated aliases for Birk-Barel Syndrome:

Name: Birk-Barel Syndrome ⁵⁷ ¹² ²⁰ ⁷³ ²⁹ ⁶ ¹⁵

Birk-Barel Mental Retardation Dysmorphism Syndrome ⁵⁷ ¹² ⁷³ ¹³ ⁴⁴ ³⁹

Intellectual Disability-Hypotonia-Facial Dysmorphism Syndrome ²⁰ ⁵⁸

Mental Retardation with Hypotonia and Facial Dysmorphism ⁵⁷ ⁷³

Intellectual Disability, Birk-Barel Type ⁵⁸

Kcnk9 Imprinting Syndrome ²⁰

Bibars ⁵⁷

Bibas ⁷³

Characteristics:

Orphanet epidemiological data:

⁵⁸

intellectual disability, birk-barel type
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

HPO:

³¹

birk-barel syndrome:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Other specified congenital malformation syndromes, not elsewhere classified

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

Disease Ontology ¹² DOID:0050675

OMIM® ⁵⁷ 612292

MeSH ⁴⁴ C567357 D008607

ICD10 via Orphanet ³³ Q87.8

Orphanet ⁵⁸ ORPHA166108

MedGen ⁴¹ C2676770

SNOMED-CT via HPO ⁶⁸ 18910001 224958001 228156007 more

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Summaries for Birk-Barel Syndrome

GARD : ²⁰ Birk-Barel syndrome is an inherited condition characterized by intellectual disability, hypotonia, hyperactivity, and unusual facial features. The condition is caused by mutations in the KCNK9 gene on chromosome 8. This condition demonstrates dominant inheritance with paternal imprinting, which means that a mutation in the maternal gene will result in disease, but a mutation in the paternal gene will have no effect (imprinted with paternal silencing).

MalaCards based summary : Birk-Barel Syndrome, also known as birk-barel mental retardation dysmorphism syndrome, is related to kcnk9 imprinting syndrome and cleft palate, isolated. An important gene associated with Birk-Barel Syndrome is KCNK9 (Potassium Two Pore Domain Channel Subfamily K Member 9), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Sweet Taste Signaling. Affiliated tissues include tongue, and related phenotypes are global developmental delay and short philtrum

Disease Ontology : ¹² A syndrome that is characterized by intellectual disability, hypotonia, hyperactivity and facies, has material basis in heterozygous mutation in the KCNK9 gene on chromosome 8q24.

UniProtKB/Swiss-Prot : ⁷³ Birk-Barel mental retardation dysmorphism syndrome: A syndrome characterized by mental retardation, hypotonia, hyperactivity, and facial dysmorphism.

Wikipedia : ⁷⁴ Birk-Barel syndrome is a rare genetic disorder associated with the KCNK9 gene. Signs and symptoms... more...

More information from OMIM: 612292

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Related Diseases for Birk-Barel Syndrome

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

(show all 17)

#	Related Disease	Score	Top Affiliating Genes
1	kcnk9 imprinting syndrome	11.5
2	cleft palate, isolated	10.3
3	alacrima, achalasia, and mental retardation syndrome	10.3
4	dysphagia	10.3
5	microcephaly	10.2
6	motor peripheral neuropathy	10.2
7	ring chromosome 8	10.2
8	hypotonia	10.2
9	ring chromosome	10.2
10	autosomal monosomy	10.2
11	scoliosis	10.1
12	lacrimal duct obstruction	10.1
13	hypoglycemia	10.1
14	central sleep apnea	10.0	KCNK9 KCNK3
15	myasthenic syndrome, congenital, 8	10.0	KCNK3 KCNK1
16	autosomal recessive non-syndromic intellectual disability	9.6	TRAPPC9 PEG13 KCNK9
17	migraine with or without aura 1	9.2	KCNK9 KCNK4 KCNK2 KCNK18 KCNK10

Graphical network of the top 20 diseases related to Birk-Barel Syndrome:

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Symptoms & Phenotypes for Birk-Barel Syndrome

Human phenotypes related to Birk-Barel Syndrome:

⁵⁸ ³¹ (show all 44)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	global developmental delay ⁵⁸ ³¹	very rare (1%)	Frequent (79-30%)	HP:0001263
2	short philtrum ⁵⁸ ³¹	very rare (1%)	Frequent (79-30%)	HP:0000322
3	sacral dimple ⁵⁸ ³¹	very rare (1%)	Frequent (79-30%)	HP:0000960
4	tented upper lip vermilion ⁵⁸ ³¹	very rare (1%)	Frequent (79-30%)	HP:0010804
5	narrow forehead ⁵⁸ ³¹	very rare (1%)	Frequent (79-30%)	HP:0000341
6	high palate ³¹	very rare (1%)		HP:0000218
7	feeding difficulties in infancy ³¹	very rare (1%)		HP:0008872
8	long face ³¹	very rare (1%)		HP:0000276
9	microretrognathia ³¹	very rare (1%)		HP:0000308
10	long eyelashes ³¹	very rare (1%)		HP:0000527
11	bifid uvula ³¹	very rare (1%)		HP:0000193
12	single transverse palmar crease ³¹	very rare (1%)		HP:0000954
13	submucous cleft soft palate ³¹	very rare (1%)		HP:0011819
14	reduced subcutaneous adipose tissue ³¹	very rare (1%)		HP:0003758
15	dysphagia ⁵⁸ ³¹		Frequent (79-30%)	HP:0002015
16	highly arched eyebrow ⁵⁸ ³¹		Frequent (79-30%)	HP:0002553
17	intellectual disability ³¹			HP:0001249
18	dysphonia ⁵⁸		Frequent (79-30%)
19	thick vermilion border ⁵⁸		Frequent (79-30%)
20	neonatal hypotonia ⁵⁸		Frequent (79-30%)
21	micrognathia ⁵⁸		Frequent (79-30%)
22	high, narrow palate ⁵⁸		Frequent (79-30%)
23	dolichocephaly ⁵⁸		Frequent (79-30%)
24	open mouth ⁵⁸		Frequent (79-30%)
25	protruding ear ⁵⁸		Frequent (79-30%)
26	areflexia ⁵⁸		Occasional (29-5%)
27	narrow nasal bridge ⁵⁸		Frequent (79-30%)
28	broad philtrum ⁵⁸		Frequent (79-30%)
29	feeding difficulties ⁵⁸		Frequent (79-30%)
30	congenital finger flexion contractures ⁵⁸		Occasional (29-5%)
31	hyperactivity ⁵⁸		Frequent (79-30%)
32	broad nasal tip ⁵⁸		Frequent (79-30%)
33	generalized hypotonia ⁵⁸		Frequent (79-30%)
34	motor axonal neuropathy ⁵⁸		Occasional (29-5%)
35	contractures involving the joints of the feet ⁵⁸		Occasional (29-5%)
36	hypomimic face ⁵⁸		Frequent (79-30%)
37	tongue fasciculations ⁵⁸		Occasional (29-5%)
38	fatiguable weakness of proximal limb muscles ⁵⁸		Frequent (79-30%)
39	nasogastric tube feeding ⁵⁸		Frequent (79-30%)
40	spinal muscular atrophy ⁵⁸		Occasional (29-5%)
41	incisor macrodontia ⁵⁸		Frequent (79-30%)
42	fatigable weakness of skeletal muscles ⁵⁸		Frequent (79-30%)
43	limited elbow flexion/extension ⁵⁸		Occasional (29-5%)
44	hypotonia ³¹			HP:0001252

Clinical features from OMIM®:

612292 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Birk-Barel Syndrome:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	9.23	KCNK10 KCNK13 KCNK18 KCNK2 KCNK3 KCNK4

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Drugs & Therapeutics for Birk-Barel Syndrome

Search Clinical Trials , NIH Clinical Center for Birk-Barel Syndrome

Cochrane evidence based reviews: birk-barel mental retardation dysmorphism syndrome

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Genetic Tests for Birk-Barel Syndrome

Genetic tests related to Birk-Barel Syndrome:

#	Genetic test	Affiliating Genes
1	Birk-Barel Syndrome ²⁹	KCNK9

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Anatomical Context for Birk-Barel Syndrome

MalaCards organs/tissues related to Birk-Barel Syndrome:

⁴⁰

Tongue

Sources

Publications for Birk-Barel Syndrome

Articles related to Birk-Barel Syndrome:

#	Title	Authors	PMID	Year
1	Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome. ⁶ ⁵⁷ ⁶¹	Sediva M...Haberlova J	30690205	2020
2	Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9. ⁶¹ ⁶ ⁵⁷	Barel O...Birk OS	18678320	2008
3	KCNK9 imprinting syndrome-further delineation of a possible treatable disorder. ⁶ ⁵⁷	Graham JM...Shalev SA	27151206	2016
4	46,XY,r(8)/45,XY,-8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study. ⁶¹	Kashevarova AA...Lebedev IN	33316910	2020
5	Role of chimeric transcript formation in the pathogenesis of birth defects. ⁶¹	Yamada M...Kosaki K	33118233	2020
6	"Electrifying dysmorphology": Potassium channelopathies causing dysmorphic syndromes. ⁶¹	Hamilton MJ...Suri M	32560786	2020
7	Terbinafine is a novel and selective activator of the two-pore domain potassium channel TASK3. ⁶¹	Wright PD...Jerman J	28882594	2017
8	Screening individuals with intellectual disability, autism and Tourette's syndrome for KCNK9 mutations and aberrant DNA methylation within the 8q24 imprinted cluster. ⁶¹	Sanchez Delgado M...Monk D	24980697	2014
9	Recovery of current through mutated TASK3 potassium channels underlying Birk Barel syndrome. ⁶¹	Veale EL...Mathie A	24342771	2014

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Genes for Birk-Barel Syndrome

Genes related to Birk-Barel Syndrome (1 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	KCNK9	Potassium Two Pore Domain Channel Subfamily K Member 9	Protein Coding	1700.95	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)	18678320 27151206 30690205
2	TRAPPC9	Trafficking Protein Particle Complex Subunit 9	Protein Coding	7.27	DISEASES inferred ¹⁵
3	KCNK3	Potassium Two Pore Domain Channel Subfamily K Member 3	Protein Coding	7.23	DISEASES inferred ¹⁵
4	KCNK18	Potassium Two Pore Domain Channel Subfamily K Member 18	Protein Coding	6.96	DISEASES inferred ¹⁵
5	KCNK10	Potassium Two Pore Domain Channel Subfamily K Member 10	Protein Coding	6.65	DISEASES inferred ¹⁵
6	GTDC1	Glycosyltransferase Like Domain Containing 1	Protein Coding	6.51	DISEASES inferred ¹⁵
7	KCNK13	Potassium Two Pore Domain Channel Subfamily K Member 13	Protein Coding	6.43	DISEASES inferred ¹⁵
8	KCNK1	Potassium Two Pore Domain Channel Subfamily K Member 1	Protein Coding	6.38	DISEASES inferred ¹⁵
9	PEG13	Paternally Expressed 13	RNA Gene	6.26	DISEASES inferred ¹⁵
10	KCNK16	Potassium Two Pore Domain Channel Subfamily K Member 16	Protein Coding	6.26	DISEASES inferred ¹⁵
11	KCNK4	Potassium Two Pore Domain Channel Subfamily K Member 4	Protein Coding	6.2	DISEASES inferred ¹⁵
12	KCNK2	Potassium Two Pore Domain Channel Subfamily K Member 2	Protein Coding	6.15	DISEASES inferred ¹⁵

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Variations for Birk-Barel Syndrome

ClinVar genetic disease variations for Birk-Barel Syndrome:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	KCNK9	NM_001282534.2(KCNK9):c.706G>A (p.Gly236Arg)	SNV	Pathogenic	4741	rs121908332	8:140630920-140630920	8:139618677-139618677
2	KCNK9	NM_001282534.2(KCNK9):c.706G>C (p.Gly236Arg)	SNV	Pathogenic	397636	rs121908332	8:140630920-140630920	8:139618677-139618677
3	KCNK9	NM_001282534.2(KCNK9):c.710C>A (p.Ala237Asp)	SNV	Likely pathogenic	982629		8:140630916-140630916	8:139618673-139618673
4	KCNK9	NM_001282534.2(KCNK9):c.25C>G (p.Leu9Val)	SNV	Uncertain significance	452563	rs1166889219	8:140715211-140715211	8:139702968-139702968
5	KCNK9	NM_001282534.2(KCNK9):c.392G>A (p.Arg131His)	SNV	Uncertain significance	372887	rs867543866	8:140631234-140631234	8:139618991-139618991
6	KCNK9	NM_001282534.2(KCNK9):c.223G>A (p.Gly75Ser)	SNV	Uncertain significance	634574	rs1563758595	8:140715013-140715013	8:139702770-139702770
7	KCNK9	NM_001282534.2(KCNK9):c.391C>T (p.Arg131Cys)	SNV	Uncertain significance	983124		8:140631235-140631235	8:139618992-139618992
8	KCNK9	NM_001282534.2(KCNK9):c.599T>C (p.Ile200Thr)	SNV	Uncertain significance	989376		8:140631027-140631027	8:139618784-139618784

UniProtKB/Swiss-Prot genetic disease variations for Birk-Barel Syndrome:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	KCNK9	p.Gly236Arg	VAR_054373	rs121908332

Sources

Expression for Birk-Barel Syndrome

Search GEO for disease gene expression data for Birk-Barel Syndrome.

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Pathways for Birk-Barel Syndrome

Pathways related to Birk-Barel Syndrome according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Activation of cAMP-Dependent PKA ⁶³ Show member pathways Activation of PKA through GPCR ⁶³ cAMP Pathway ⁶³ PKA Signaling ⁶³	13.26	KCNK9 KCNK4 KCNK3 KCNK2 KCNK16 KCNK13
2	Sweet Taste Signaling ⁶³ Show member pathways Bitter Taste Signaling ⁶³ Cellular Effects of Sildenafil ⁶³ Melatonin Signaling ⁶³ Sperm Motility ⁶³	12.86	KCNK9 KCNK4 KCNK3 KCNK2 KCNK16 KCNK13
3	Transmission across Chemical Synapses ⁶⁵ Show member pathways Neuronal System ⁶⁵ Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell ⁶⁵	12.83	KCNK9 KCNK4 KCNK3 KCNK2 KCNK18 KCNK16
4	Cardiac conduction ⁶⁵ Show member pathways Classical Kir channels ⁶⁵ Ion homeostasis ⁶⁵ Ion transport by P-type ATPases ⁶⁵ Muscle contraction ⁶⁵ Phase 1 - inactivation of fast Na+ channels ⁶⁵ Phase 3 - rapid repolarisation ⁶⁵ Phase 4 - resting membrane potential ⁶⁵ Physiological factors ⁶⁵ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁵ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁵ Tandem pore domain potassium channels ⁶⁵ TWIK related potassium channel (TREK) ⁶⁵ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁵ TWIK-related spinal cord K+ channel (TRESK) ⁶⁵ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁵	12.54	KCNK9 KCNK4 KCNK3 KCNK2 KCNK18 KCNK16
5	Neuropathic Pain-Signaling in Dorsal Horn Neurons ⁶³ Show member pathways Aldosterone Signaling in Epithelial Cells ⁶³ Cholera Infection ⁶³	12.45	KCNK9 KCNK4 KCNK3 KCNK2 KCNK16 KCNK13
6	Hepatic ABC Transporters ⁶³ Show member pathways MODY (Maturity-Onset Diabetes of Young) ⁶³	11.65	KCNK9 KCNK4 KCNK3 KCNK2 KCNK16 KCNK13
7	Potassium Channels ⁶⁵ Show member pathways HCN channels ⁶⁵ Voltage gated Potassium channels ⁶⁵	11.45	KCNK9 KCNK4 KCNK3 KCNK2 KCNK18 KCNK16
8	Antiarrhythmic Pathway, Pharmacodynamics ⁶⁰	11.18	KCNK3 KCNK1

Sources

GO Terms for Birk-Barel Syndrome

Cellular components related to Birk-Barel Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	integral component of membrane	GO:0016021	9.91	KCNK9 KCNK4 KCNK3 KCNK2 KCNK18 KCNK16
2	plasma membrane	GO:0005886	9.81	KCNK9 KCNK4 KCNK3 KCNK2 KCNK18 KCNK16
3	voltage-gated potassium channel complex	GO:0008076	9.32	KCNK2 KCNK1
4	integral component of plasma membrane	GO:0005887	9.28	KCNK9 KCNK4 KCNK3 KCNK2 KCNK18 KCNK16
5	potassium channel complex	GO:0034705	8.96	KCNK4 KCNK1

Biological processes related to Birk-Barel Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	ion transport	GO:0006811	9.91	KCNK9 KCNK4 KCNK3 KCNK2 KCNK18 KCNK16
2	potassium ion transmembrane transport	GO:0071805	9.81	KCNK9 KCNK4 KCNK3 KCNK2 KCNK18 KCNK16
3	regulation of ion transmembrane transport	GO:0034765	9.62	KCNK4 KCNK16 KCNK13 KCNK10
4	stabilization of membrane potential	GO:0030322	9.61	KCNK9 KCNK4 KCNK3 KCNK2 KCNK18 KCNK16
5	memory	GO:0007613	9.54	KCNK4 KCNK2 KCNK10
6	cardiac conduction	GO:0061337	9.43	KCNK3 KCNK1
7	cochlea development	GO:0090102	9.4	KCNK3 KCNK2
8	potassium ion transport	GO:0006813	9.28	KCNK9 KCNK4 KCNK3 KCNK2 KCNK18 KCNK16

Molecular functions related to Birk-Barel Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	potassium ion leak channel activity	GO:0022841	9.61	KCNK9 KCNK4 KCNK3 KCNK2 KCNK18 KCNK16
2	voltage-gated ion channel activity	GO:0005244	9.46	KCNK4 KCNK16 KCNK13 KCNK10
3	voltage-gated potassium channel activity	GO:0005249	9.43	KCNK9 KCNK2 KCNK1
4	outward rectifier potassium channel activity	GO:0015271	9.32	KCNK2 KCNK18
5	potassium channel activity	GO:0005267	9.28	KCNK9 KCNK4 KCNK3 KCNK2 KCNK18 KCNK16

Sources

Sources for Birk-Barel Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Birk-Barel Syndrome (BIBARS)

Aliases & Classifications for Birk-Barel Syndrome

MalaCards integrated aliases for Birk-Barel Syndrome:

Characteristics:

Orphanet epidemiological data:

HPO:

Classifications:

External Ids:

Summaries for Birk-Barel Syndrome

Related Diseases for Birk-Barel Syndrome

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

Graphical network of the top 20 diseases related to Birk-Barel Syndrome:

Symptoms & Phenotypes for Birk-Barel Syndrome

Human phenotypes related to Birk-Barel Syndrome:

Clinical features from OMIM®:

MGI Mouse Phenotypes related to Birk-Barel Syndrome:

Drugs & Therapeutics for Birk-Barel Syndrome

Cochrane evidence based reviews: birk-barel mental retardation dysmorphism syndrome

Genetic Tests for Birk-Barel Syndrome

Genetic tests related to Birk-Barel Syndrome:

Anatomical Context for Birk-Barel Syndrome

MalaCards organs/tissues related to Birk-Barel Syndrome:

Publications for Birk-Barel Syndrome

Articles related to Birk-Barel Syndrome:

Genes for Birk-Barel Syndrome

Genes related to Birk-Barel Syndrome (1 elite genes):

Variations for Birk-Barel Syndrome

ClinVar genetic disease variations for Birk-Barel Syndrome:

UniProtKB/Swiss-Prot genetic disease variations for Birk-Barel Syndrome:

Expression for Birk-Barel Syndrome

Pathways for Birk-Barel Syndrome

Pathways related to Birk-Barel Syndrome according to GeneCards Suite gene sharing:

GO Terms for Birk-Barel Syndrome

Cellular components related to Birk-Barel Syndrome according to GeneCards Suite gene sharing:

Biological processes related to Birk-Barel Syndrome according to GeneCards Suite gene sharing:

Molecular functions related to Birk-Barel Syndrome according to GeneCards Suite gene sharing:

Sources for Birk-Barel Syndrome