Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

MalaCards integrated aliases for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome:

Name: Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome ⁵⁷ ⁷³ ³⁸

Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome; ²⁸ ⁵

Lics ⁵⁷ ⁷³

Lung Disease, Immunodeficiency, Chromosome Breakage Syndrome ³⁸

Characteristics:

Inheritance:

Autosomal recessive ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
onset in first months of life
four patients from 2 unrelated families have been reported (last curated december 2016)
death in first years of life

Classifications:

MalaCards categories:
Global: Genetic diseases Infectious diseases
Anatomical: Respiratory diseases Immune diseases

See all MalaCards categories (disease lists)

External Ids:

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Summaries for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

OMIM®: ⁵⁷ LICS is an autosomal recessive chromosome breakage syndrome characterized by failure to thrive in infancy, immune deficiency, and fatal progressive pediatric lung disease induced by viral infection. Some patients may have mild dysmorphic features (summary by van der Crabben et al., 2016). (617241) (Updated 08-Dec-2022)

MalaCards based summary: Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome, also known as lung disease, immunodeficiency, and chromosome breakage syndrome;, is related to allergic disease and lung disease. An important gene associated with Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome is NSMCE3 (NSE3 Homolog, SMC5-SMC6 Complex Component). Affiliated tissues include lung, t cells and thymus, and related phenotypes are cerebral calcification and depressed nasal bridge

UniProtKB/Swiss-Prot: ⁷³ An autosomal recessive chromosome breakage syndrome associated with severe, fatal lung disease in early childhood, following viral pneumonia. LICS is characterized by combined T and B-cell immunodeficiency. Some patients may have mild dysmorphic features.

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Related Diseases for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

Diseases related to Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	allergic disease	10.0
2	lung disease	10.0
3	twin-reversed arterial perfusion sequence	10.0

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Symptoms & Phenotypes for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

Human phenotypes related to Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome:

³⁰ (show all 20)

#	Description	HPO Frequency	HPO Source Accession
1	cerebral calcification ³⁰	Very rare (1%)	HP:0002514
2	depressed nasal bridge ³⁰	Very rare (1%)	HP:0005280
3	hypertelorism ³⁰	Very rare (1%)	HP:0000316
4	failure to thrive in infancy ³⁰	Very rare (1%)	HP:0001531
5	hypoplasia of the thymus ³⁰	Very rare (1%)	HP:0000778
6	eczema ³⁰	Very rare (1%)	HP:0000964
7	midface retrusion ³⁰	Very rare (1%)	HP:0011800
8	wide anterior fontanel ³⁰	Very rare (1%)	HP:0000260
9	small for gestational age ³⁰	Very rare (1%)	HP:0001518
10	increased circulating igm level ³⁰	Very rare (1%)	HP:0003496
11	increased sensitivity to ionizing radiation ³⁰	Very rare (1%)	HP:0011133
12	bronchiolitis obliterans ³⁰	Very rare (1%)	HP:0011946
13	decreased proportion of cd8-positive t cells ³⁰	Very rare (1%)	HP:0005415
14	increased circulating ige level ³⁰	Very rare (1%)	HP:0003212
15	decreased proportion of cd4-positive helper t cells ³⁰	Very rare (1%)	HP:0005407
16	axial hypotonia ³⁰	Very rare (1%)	HP:0008936
17	reduced delayed hypersensitivity ³⁰	Very rare (1%)	HP:0002972
18	feeding difficulties ³⁰		HP:0011968
19	mild global developmental delay ³⁰		HP:0011342
20	reduced antigen-specific t cell proliferation ³⁰		HP:0031402

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Growth Other:
failure to thrive

Head And Neck Head:
large anterior fontanel

Immunology:
thymic hypoplasia
decreased numbers of t cells
increased susceptibility to infection
impaired antibody response
immune dysfunction
more

Skin Nails Hair Skin:
eczema (family a)

Neurologic Central Nervous System:
psychomotor retardation, mild (family a)

Respiratory Lung:
bronchiolitis obliterans
hyperinflation
interstitial pneumonia
pulmonary disease, rapidly progressive
viral-induced pneumonia
more

Abdomen Gastrointestinal:
poor feeding

Head And Neck Face:
dysmorphic facial features, mild (in some patients)

Muscle Soft Tissue:
axial hypotonia (family a)
subcutaneous emphysema

Laboratory Abnormalities:
karyotyping of peripheral lymphocytes shows multiple de novo supernumerary marker chromosomes and chromosome rearrangements
lymphocytes and fibroblasts show increased sensitivity to ionizing radiation

Clinical features from OMIM®:

617241 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Strongly decreased CFP-tsO45G cell surface transport	GR00360-A-1	8.62	ENTREP2 NSMCE3

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Drugs & Therapeutics for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

Search Clinical Trials, NIH Clinical Center for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

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Genetic Tests for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

Genetic tests related to Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome:

#	Genetic test	Affiliating Genes
1	Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome; ²⁸	NSMCE3

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Anatomical Context for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

Organs/tissues related to Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome:

MalaCards : Lung, T Cells, Thymus, Myeloid, Bone Marrow, Liver, Breast

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Publications for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

Articles related to Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome:

(show top 50) (show all 603)

#	Title	Authors	PMID	Year
1	Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease. ⁵⁷ ⁵	van der Crabben SN...van Haaften G	27427983	2016
2	Bio-nanoconjugates of lithocholic acid/IR 780 for ROS-mediated apoptosis and optoacoustic imaging applications in breast cancer. ⁶²	Ghosh A...Pemmaraju DB	36403414	2023
3	Targeting UHRF1-SAP30-MXD4 axis for leukemia initiating cell eradication in myeloid leukemia. ⁶²	Hu CL...Wang L	36302855	2022
4	LICs in the UK: why do we need our own definition? ⁶²	Alberti H...Dodsworth A	36469570	2022
5	Applicability of European Society of Cardiology guidelines according to gross national income. ⁶²	van Dijk WB...Grobbee DE	36396400	2022
6	Elective surgery system strengthening: development, measurement, and validation of the surgical preparedness index across 1632 hospitals in 119 countries. ⁶²	NIHR Global Health Unit on Global Surgery...COVIDSurg Collaborative	36328042	2022
7	P2X1 enhances leukemogenesis through PBX3-BCAT1 pathways. ⁶²	He X...Zheng J	36418376	2022
8	Characterization of fine particulate matter from indoor cooking with solid biomass fuels. ⁶²	Eriksson A...Isaxon C	36437670	2022
9	Targeting Leukemia-Initiating Cells and Leukemic Niches: The Next Therapy Station for T-Cell Acute Lymphoblastic Leukemia? ⁶²	Zhang Z...Zhang H	36428753	2022
10	Advances of Carbon Materials for Dual-Carbon Lithium-Ion Capacitors: A Review. ⁶²	Duan Y...Lu Y	36432240	2022
11	Epidemiology, Management, and Outcomes of Sepsis in ICUs among Countries of Differing National Wealth across Asia. ⁶²	Li A...Phua J	35763381	2022
12	Hierarchical architecture of two-dimensional Ti3C2 [email protected] framework derivatives as anode for hybrid li-ion capacitors. ⁶²	Wu W...Zhu J	35576651	2022
13	The impact of COVID-19 on international development aid and health systems strengthening in low-income countries. ⁶²	Manirambona E...Lucero-Prisno Iii DE	36164644	2022
14	The relationship between economic growth and environmental degradation: could West African countries benefit from EKC hypothesis? ⁶²	Jian L...Ntarmah AH	35616844	2022
15	Second Footprint of Reports from Low- and Low- to Middle-Income Countries in the Neurosurgical Data: A Study from 2018-2020 Compared with Data from 2015-2017. ⁶²	Cannizzaro D...Shlobinh NA	36220490	2022
16	The landscape of international oral and maxillofacial surgery collaborations from 1996 to 2020: a scoping review of the published literature. ⁶²	Guntaka PK...Afshar S	35568657	2022
17	Noncanonical β-catenin interactions promote leukemia-initiating activity in early T-cell acute lymphoblastic leukemia. ⁶²	Panelli P...Giambra V	36315912	2022
18	Burnout Syndrome Among Anesthesia Providers Working in Public Hospitals in Rwanda: A Cross-Sectional Survey. ⁶²	Tuyishime E...Bould MD	35452008	2022
19	Achieving access to haemophilia care in low-income and lower-middle-income countries: expanded Humanitarian Aid Program of the World Federation of Hemophilia after 5 years. ⁶²	Pierce GF...Haffar A	36055333	2022
20	The burden of asthma, hay fever and eczema in children in 25 countries: GAN Phase I study. ⁶²	Garcia-Marcos L...Global Asthma Network Phase I Study Group	35144987	2022
21	'It was the worst possible timing': the response of UK Longitudinal Integrated Clerkships to Covid-19. ⁶²	El Brown M...McKeown A	35770614	2022
22	Influence of sociocultural beliefs and practices on contraception: a systematic review. ⁶²	Idris IB...Nawi AM	36082451	2022
23	COVID-19 Aftermath: Direction Towards Universal Health Coverage in Low-Income Countries Comment on "Health Coverage and Financial Protection in Uganda: A Political Economy Perspective". ⁶²	Tangcharoensathien V...Patcharanarumol W	36243945	2022
24	Estimating deaths averted and cost per life saved by scaling up mRNA COVID-19 vaccination in low-income and lower-middle-income countries in the COVID-19 Omicron variant era: a modelling study. ⁶²	Savinkina A...Gonsalves G	36100306	2022
25	Inter-hospital Transfer Delays to a Tertiary Referral Center and Postoperative Outcomes in Patients with Abdominal Surgical Emergencies in Malawi. ⁶²	Yohann A...Charles A	35570239	2022
26	Factors associated with health-related quality of life in heart failure in 23 000 patients from 40 countries: results of the G-CHF research programme. ⁶²	Johansson I...Yusuf S	35570198	2022
27	Medical Student Identity Construction Within Longitudinal Integrated Clerkships: An International, Longitudinal Qualitative Study. ⁶²	Brown MEL...Finn GM	35507462	2022
28	The socioeconomic gradient of alcohol use: an analysis of nationally representative survey data from 55 low-income and middle-income countries. ⁶²	Xu Y...Probst C	35961350	2022
29	How to enhance students' learning in a patient-centered longitudinal integrated clerkship: factors associated with students' learning experiences. ⁶²	Kim JW...Yoon HB	36070990	2022
30	Impact of COVID-19 on global burn care. ⁶²	Laura P...Mark F	34903416	2022
31	Nirmatrelvir combined with ritonavir for preventing and treating COVID-19. ⁶²	Reis S...Weibel S	36126225	2022
32	A Review of the Nucleic Acid-Based Lateral Flow Assay for Detection of Breast Cancer from Circulating Biomarkers at a Point-of-Care in Low Income Countries. ⁶²	Dyan B...Sibuyi NRS	36010323	2022
33	Comparing human exposure to fine particulate matter in low and high-income countries: A systematic review of studies measuring personal PM2.5 exposure. ⁶²	Lim S...Barratt B	35421472	2022
34	Can the Framing of Climate Mitigation Actions into Government Policies Lead to Delivering Them? - Insights from Nepal's Experience. ⁶²	Baniya B...Aryal PP	35460358	2022
35	Lithium Cholesterol Sulfate: A Novel and Potential Drug for Treating Alzheimer's Disease and Autism Spectrum Disorder. ⁶²	Hu W...Tan J	36028968	2022
36	More Pain, More Gain! The Delivery of COVID-19 Vaccines and the Pharmaceutical Industry's Role in Widening the Access Gap. ⁶²	Borges LC...Crosbie E	36028975	2022
37	Anxiety among Adolescents and Young Adults during COVID-19 Pandemic: A Multi-Country Survey. ⁶²	Sabbagh HJ...El Tantawi M	36078253	2022
38	Suppressing crucial oncogenes of leukemia initiator cells by major royal jelly protein 2 for mediating apoptosis in myeloid and lymphoid leukemia cells. ⁶²	Abu-Serie MM...Habashy NH	35929786	2022
39	Leukemia-initiating HSCs in chronic lymphocytic leukemia reveal clonal leukemogenesis and differential drug sensitivity. ⁶²	Chiang CL...Muthusamy N	35858552	2022
40	Global road safety 2010-18: An analysis of Global Status Reports. ⁶²	Rosen HE...Hyder AA	35906119	2022
41	Diagnosing autism in low-income countries: Clinical record-based analysis in Sri Lanka. ⁶²	Peiris H...Nadeeshani M	35707912	2022
42	Rainfall shocks, child mortality, and water infrastructure. ⁶²	Ponnusamy S	35388563	2022
43	Light-induced charged slippery surfaces. ⁶²	Wang F...Du X	35857475	2022
44	Prelithiation Bridges the Gap for Developing Next-Generation Lithium-Ion Batteries/Capacitors. ⁶²	Li F...Qu D	35680608	2022
45	Exploring the learning environment afforded by an Aboriginal Community Controlled Health service in a rural longitudinal integrated clerkship. ⁶²	Purea P...Pinidiyapathirage J	35343387	2022
46	A Mechanically Flexible Necklace-Like Architecture for Achieving Fast Charging and High Capacity in Advanced Lithium-Ion Capacitors. ⁶²	Liang T...Wang H	35661404	2022
47	Who tells the story of burns in low-and-middle income countries? - A bibliometric study. ⁶²	Wall SL...Pompermaier L	35787966	2022
48	The differential role of the lipid raft-associated protein flotillin 2 for progression of myeloid leukemia. ⁶²	Kumar R...Krause DS	35298613	2022
49	The effects of negative economic shocks at birth on adolescents' cognitive outcomes and educational attainment in Malawi. ⁶²	Kampfen F...Kidman R	35493407	2022
50	Authorship representation in global emergency medicine: a bibliometric analysis from 2016 to 2020. ⁶²	Garbern SC...Rees CA	35760436	2022

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Genes for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

Genes related to Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	NSMCE3	NSE3 Homolog, SMC5-SMC6 Complex Component	Protein Coding	1308.23	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ GeneCards inferred via : Disorders (show sections)	27427983
2	ENTREP2	Endosomal Transmembrane Epsin Interactor 2	Protein Coding	400	Pathogenic ⁵	27427983

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Variations for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

ClinVar genetic disease variations for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	NSMCE3, FAM189A1	NM_138704.4(NSMCE3):c.626C>T (p.Pro209Leu)	SNV	Pathogenic	267796	rs886037827	GRCh37: 15:29561284-29561284 GRCh38: 15:29269080-29269080
2	NSMCE3, ENTREP2	NM_138704.4(NSMCE3):c.790C>T (p.Leu264Phe)	SNV	Pathogenic	267795	rs199905054	GRCh37: 15:29561120-29561120 GRCh38: 15:29268916-29268916
3	NSMCE3, FAM189A1	NM_138704.4(NSMCE3):c.586A>G (p.Thr196Ala)	SNV	Uncertain Significance	1034263	rs752251822	GRCh37: 15:29561324-29561324 GRCh38: 15:29269120-29269120

UniProtKB/Swiss-Prot genetic disease variations for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	NSMCE3	p.Pro209Leu	VAR_078021	rs886037827
2	NSMCE3	p.Leu264Phe	VAR_078022	rs199905054

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Expression for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

Search GEO for disease gene expression data for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome.

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Pathways for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

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GO Terms for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

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Sources for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

LICS MCID: LNG105 MIFTS: 32	Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome (LICS) Categories: Genetic diseases, Immune diseases, Infectious diseases, Respiratory diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome (LICS)

Aliases & Classifications for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

MalaCards integrated aliases for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

Related Diseases for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

Diseases related to Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

Human phenotypes related to Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

GenomeRNAi Phenotypes related to Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome according to GeneCards Suite gene sharing:

Drugs & Therapeutics for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

Genetic Tests for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

Genetic tests related to Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome:

Anatomical Context for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

Organs/tissues related to Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome:

Publications for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

Articles related to Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome:

Genes for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

Genes related to Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome (2 elite genes):

Variations for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

ClinVar genetic disease variations for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome:

UniProtKB/Swiss-Prot genetic disease variations for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome:

Expression for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

Pathways for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

GO Terms for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome

Sources for Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome