Periodontitis, Aggressive, 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

AP1 MCID: PRD039 MIFTS: 32	Periodontitis, Aggressive, 1 (AP1) Categories: Bone diseases, Genetic diseases, Oral diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Periodontitis, Aggressive, 1

MalaCards integrated aliases for Periodontitis, Aggressive, 1:

Name: Periodontitis, Aggressive, 1 ⁵⁷ ²⁹ ⁶

Prepubertal Periodontitis ⁷⁵ ³⁷ ⁵⁵

Periodontitis 1, Juvenile ⁵⁷ ¹³

Periodontitis, Juvenile ⁵⁷ ⁷³

Jpd ⁵⁷ ⁷⁵

Ppp ⁵⁷ ⁷⁵

Periodontitis, Aggressive, Type 1 ⁴⁰

Periodontitis, Juvenile; Jpd; Jp ⁵⁷

Periodontitis, Prepubertal; Ppp ⁵⁷

Periodontititis, Aggressive, 1 ⁷⁵

Periodontitis, Prepubertal ⁵⁷

Juvenile Periodontitis ⁷⁵

Ap1 ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity
allelic to papillon-lefevre syndrome and haim-munk syndrome

HPO:

³²

periodontitis, aggressive, 1:
Inheritance heterogeneous autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Oral diseases Bone diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 170650

MedGen ⁴² C0031106

MeSH ⁴⁴ D010520

KEGG ³⁷ H02050

SNOMED-CT via HPO ⁶⁹ 258211005 199879009 95320005 more

UMLS ⁷³ C0031106

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Summaries for Periodontitis, Aggressive, 1

OMIM : ⁵⁷ Aggressive periodontitis, which may be generalized or localized, is characterized by severe and protracted gingival infections, leading to tooth loss. Amounts of microbial deposits are generally inconsistent with the severity of periodontal tissue destruction and the progression of attachment and bone loss may be self arresting (American Academy of Periodontology, 2000). The term 'aggressive periodontitis' replaced the terms 'early-onset,' 'prepubertal,' or 'juvenile periodontitis' at a 1999 International workshop for a classification of periodontal disease and conditions, where it was decided that the classification terminology should not be age dependent or require knowledge of rates of progression (Armitage, 1999). (170650)

MalaCards based summary : Periodontitis, Aggressive, 1, also known as prepubertal periodontitis, is related to susceptibility to localized juvenile periodontitis and pustulosis palmaris et plantaris. An important gene associated with Periodontitis, Aggressive, 1 is CTSC (Cathepsin C), and among its related pathways/superpathways is Lysosome. Affiliated tissues include bone, skin and neutrophil, and related phenotypes are abnormality of the skin and severe periodontitis

UniProtKB/Swiss-Prot : ⁷⁵ Periodontititis, aggressive, 1: A disease characterized by severe and protracted gingival infections, generalized or localized, leading to tooth loss. Amounts of microbial deposits are generally inconsistent with the severity of periodontal tissue destruction and the progression of attachment and bone loss may be self arresting.

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Related Diseases for Periodontitis, Aggressive, 1

Diseases in the Aggressive Periodontitis family:

Periodontitis, Aggressive, 1

Periodontitis, Aggressive, 2

Diseases related to Periodontitis, Aggressive, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 65)

#	Related Disease	Score
1	susceptibility to localized juvenile periodontitis	12.2
2	pustulosis palmaris et plantaris	12.2
3	aggressive periodontitis	11.7
4	periodontosis	11.5
5	paget disease of bone 5, juvenile-onset	11.4
6	haim-munk syndrome	11.3
7	panniculitis	10.3
8	pancreatitis	10.3
9	breast cancer	10.2
10	periodontitis	10.2
11	orchitis	10.0
12	ischemia	10.0
13	leukocyte adhesion deficiency, type i	10.0
14	neutropenia	10.0
15	periodontal disease	10.0
16	small cell cancer of the lung	9.9
17	adrenocortical carcinoma, hereditary	9.9
18	lung cancer	9.9
19	myeloma, multiple	9.9
20	leukemia	9.9
21	alternating hemiplegia of childhood	9.9
22	legionnaires' disease	9.9
23	cardiac tamponade	9.9
24	hyperostosis	9.9
25	thrombocytosis	9.9
26	rhabdomyosarcoma	9.9
27	adrenal cortical adenocarcinoma	9.9
28	influenza	9.9
29	viral infectious disease	9.9
30	6-phosphogluconate dehydrogenase deficiency	9.9
31	teeth, supernumerary	9.9
32	rheumatoid arthritis	9.9
33	arthritis	9.9
34	amyotrophic lateral sclerosis 1	9.9
35	colorectal cancer	9.9
36	hepatocellular carcinoma	9.9
37	glioma susceptibility 1	9.9
38	kaposi sarcoma	9.9
39	hepatitis c virus	9.9
40	glucocorticoid resistance, generalized	9.9
41	hepatitis	9.9
42	lymphoma	9.9
43	sarcoma	9.9
44	ichthyosis	9.9
45	squamous cell carcinoma	9.9
46	hepatitis c	9.9
47	lateral sclerosis	9.9
48	adenocarcinoma	9.9
49	glioblastoma multiforme	9.9
50	embryonal carcinoma	9.9

Graphical network of the top 20 diseases related to Periodontitis, Aggressive, 1:

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Symptoms & Phenotypes for Periodontitis, Aggressive, 1

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Mouth:
gingival recession
severe, early-onset periodontitis
alveolar bone destruction

Skin Nails Hair Skin:
no palmoplantar keratosis

Head And Neck Teeth:
premature tooth loss

Clinical features from OMIM:

170650

Human phenotypes related to Periodontitis, Aggressive, 1:

³²

#	Description	HPO Source Accession
1	abnormality of the skin ³²	HP:0000951
2	severe periodontitis ³²	HP:0000166
3	gingival recession ³²	HP:0030816
4	premature loss of teeth ³²	HP:0006480

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Drugs & Therapeutics for Periodontitis, Aggressive, 1

Search Clinical Trials , NIH Clinical Center for Periodontitis, Aggressive, 1

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Genetic Tests for Periodontitis, Aggressive, 1

Genetic tests related to Periodontitis, Aggressive, 1:

#	Genetic test	Affiliating Genes
1	Periodontitis, Aggressive, 1 ²⁹	CTSC

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Anatomical Context for Periodontitis, Aggressive, 1

MalaCards organs/tissues related to Periodontitis, Aggressive, 1:

⁴¹

Bone, Skin, Neutrophil, Lung

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Publications for Periodontitis, Aggressive, 1

Articles related to Periodontitis, Aggressive, 1:

(show all 41)

#	Title	Authors	Year
1	Leukocyte adhesion deficiency type 1: an important consideration in the clinical differential diagnosis of prepubertal periodontitis. A case report and review of the literature. ( 17618138 )		2008
2	The role of cathepsin C in Papillon-Lefevre syndrome, prepubertal periodontitis, and aggressive periodontitis. ( 14974080 )		2004
3	Prepubertal periodontitis: a report of 2 cases. ( 12762617 )	Vandana K.L....Redy B.V.	2003
4	Prepubertal periodontitis associated with chronic granulomatous disease. ( 11350528 )	Buduneli N...K?t?k??ler N	2001
5	Some local and systemic immunological features of prepubertal periodontitis. ( 11168735 )	Berglundh T...Lindhe J	2001
6	Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation. ( 10662808 )	Hart T.C....Walker S.	2000
7	A case of prepubertal periodontitis and prevalence of gingivitis in a population attending a university clinic in Rosario, Argentina. ( 12905909 )		1999
8	Subgingival microflora and treatment in prepubertal periodontitis associated with chronic idiopathic neutropenia. ( 9763332 )	Kamma JJ...Nakou M	1998
9	Root surface characteristics of primary teeth from children with prepubertal periodontitis. ( 9579620 )	Bimstein E...Shapira L	1998
10	Microbiological findings in prepubertal periodontitis. A case report. ( 9802719 )	Dibart S...Nedleman HL	1998
11	Alveolar bone loss in rats infected with a strain of Prevotella intermedia and Fusobacterium nucleatum isolated from a child with prepubertal periodontitis. ( 9029446 )	Yoshida-Minami I...Ooshima T	1997
12	Possible autosomal-dominant inheritance of prepubertal periodontitis in an extended kindred. ( 9205917 )	Shapira L...Bimstein E	1997
13	Clinical and microbial considerations for the treatment of an extended kindred with seven cases of prepubertal periodontitis: a 2-year follow-up. ( 9348604 )	Bimstein E...Shapira L	1997
14	Loss of deciduous teeth and germs of permanent incisors in a 4-year-old child. An atypic prepubertal periodontitis? A clinical, microbiological, immunological and ultrastructural study. ( 9402506 )	Sixou JL...Bonnaure-Mallet M	1997
15	Generalized prepubertal periodontitis. A report of 4 cases with the immunological findings. ( 8997655 )	Firatli E...Cebeci I	1996
16	Clinical, microbiological and host defense parameters associated with a case of localized prepubertal periodontitis. ( 7706540 )		1995
17	Localized prepubertal periodontitis--nonsurgical treatment of an adolescent patient: a case report. ( 9002901 )	Epstein SR	1995
18	Leukocyte adhesion deficiency and prepubertal periodontitis. ( 9673168 )	Meyle J.	1994
19	Localized prepubertal periodontitis in a 5-year-old child: investigations and clinical observations over a 3-year period. ( 7748849 )	Linden G...Lynn G	1994
20	Subgingival bacteria in a case of prepubertal periodontitis, before and one year after extractions of the affected primary teeth. ( 7865423 )	Ram D...Bimstein E	1994
21	Prepubertal periodontitis: a genetic analysis. ( 9588117 )	Shoeb M...Zahran F	1993
22	Neutrophil dysfunction in prepubertal periodontitis associated with Papillon-Lefèvre syndrome. ( 1301494 )	D'Angelo M...Agate V	1992
23	Treatment of prepubertal periodontitis. A case report and discussion. ( 1556251 )	D'Angelo M...Sammartano F	1992
24	Prepubertal periodontitis. ( 1634634 )	Newman HN	1992
25	Histological differences between teeth with adult periodontitis and prepubertal periodontitis. ( 1690282 )	L?pez NJ...Canales ML	1990
26	Morphologic and histochemical characteristics of the dental cuticle in teeth affected by prepubertal periodontitis. ( 1690283 )	L?pez NJ...Canales ML	1990
27	Prepubertal periodontitis: a review of diagnostic criteria, pathogenesis, and differential diagnosis. ( 2137170 )	Watanabe K	1990
28	Localized prepubertal periodontitis: literature review and report of case. ( 2656787 )	Myers DR...Cross RL	1989
29	Paleopathology in Australopithecus africanus: a suggested case of a 3-million-year-old prepubertal periodontitis. ( 3137821 )		1988
30	Prepubertal periodontitis--a case report. ( 3271827 )	Sood PB...Mescarenhas AK	1988
31	Clinical management of prepubertal periodontitis in 2 siblings with Papillon-LefA"vre syndrome. ( 2951399 )	Preus H....Gjermo P.	1987
32	Molecular basis for the functional abnormality in neutrophils from patients with generalized prepubertal periodontitis. ( 3037059 )	Page RC...Waldrop TC	1987
33	Prepubertal periodontitis. A case report with an analysis of lymphocyte populations. ( 3493267 )	Celenligil H...Yavuzyilmaz E	1987
34	Prevalence and microbiology of localized prepubertal periodontitis. ( 10870470 )	Sweeney EA...Slots J	1987
35	Microbiology of subgingival plaque from children with localized prepubertal periodontitis. ( 10870471 )	Delaney JE...Kornman KS	1987
36	Immunohistological study with peroxidase-antiperoxidase staining in a case of generalized prepubertal periodontitis. ( 2420957 )	Hara Y...Yoshimura S	1986
37	Prepubertal periodontitis: a recently defined clinical entity. ( 3466145 )	Mishkin DJ...Young WL	1986
38	Prepubertal periodontitis: report of a generalized case involving the primary dentition. ( 3856003 )	Boraz RA	1985
39	Clinical studies of one family manifesting rapidly progressive, juvenile and prepubertal periodontitis. ( 3856656 )	Spektor MD...Page RC	1985
40	Prepubertal periodontitis affecting the deciduous and permanent dentition in a patient with cyclic neutropenia. A case report and discussion. ( 6584586 )	Prichard J.F....Hurt W.C.	1984
41	Prepubertal periodontitis. I. Definition of a clinical disease entity. ( 6575170 )	Page RC...Williams BL	1983

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Genes for Periodontitis, Aggressive, 1

Genes related to Periodontitis, Aggressive, 1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CTSC	Cathepsin C	Protein Coding	1327.14	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Novoseek inferred ⁵⁵ GeneCards inferred via : Variants (show sections)	14974080 10662808 10581027 (more) 14974080 16128836

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Variations for Periodontitis, Aggressive, 1

UniProtKB/Swiss-Prot genetic disease variations for Periodontitis, Aggressive, 1:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	CTSC	p.Tyr347Cys	VAR_009546	rs104894211
2	CTSC	p.Tyr412Cys	VAR_019047	rs28937571

ClinVar genetic disease variations for Periodontitis, Aggressive, 1:

⁶ (show all 30)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	CTSC	NM_001814.5(CTSC): c.1235A> G (p.Tyr412Cys)	single nucleotide variant	Pathogenic	rs28937571	GRCh37	Chromosome 11, 88027331: 88027331
2	CTSC	NM_001814.5(CTSC): c.1235A> G (p.Tyr412Cys)	single nucleotide variant	Pathogenic	rs28937571	GRCh38	Chromosome 11, 88294163: 88294163
3	CTSC	NM_001814.5(CTSC): c.1040A> G (p.Tyr347Cys)	single nucleotide variant	Pathogenic	rs104894211	GRCh37	Chromosome 11, 88027526: 88027526
4	CTSC	NM_001814.5(CTSC): c.1040A> G (p.Tyr347Cys)	single nucleotide variant	Pathogenic	rs104894211	GRCh38	Chromosome 11, 88294358: 88294358
5	CTSC	NM_001814.5(CTSC): c.815G> A (p.Arg272His)	single nucleotide variant	Pathogenic	rs587777534	GRCh38	Chromosome 11, 88296207: 88296207
6	CTSC	NM_001814.5(CTSC): c.815G> A (p.Arg272His)	single nucleotide variant	Pathogenic	rs587777534	GRCh37	Chromosome 11, 88029375: 88029375
7	CTSC	NM_001814.5(CTSC): c.29C> T (p.Ala10Val)	single nucleotide variant	Uncertain significance	rs765499436	GRCh38	Chromosome 11, 88337644: 88337644
8	CTSC	NM_001814.5(CTSC): c.29C> T (p.Ala10Val)	single nucleotide variant	Uncertain significance	rs765499436	GRCh37	Chromosome 11, 88070812: 88070812
9	CTSC	NM_001814.5(CTSC): c.825C> T (p.Thr275=)	single nucleotide variant	Benign	rs2230081	GRCh37	Chromosome 11, 88029365: 88029365
10	CTSC	NM_001814.5(CTSC): c.825C> T (p.Thr275=)	single nucleotide variant	Benign	rs2230081	GRCh38	Chromosome 11, 88296197: 88296197
11	CTSC	NM_001814.5(CTSC): c.458C> T (p.Thr153Ile)	single nucleotide variant	Benign	rs217086	GRCh38	Chromosome 11, 88312415: 88312415
12	CTSC	NM_001814.5(CTSC): c.458C> T (p.Thr153Ile)	single nucleotide variant	Benign	rs217086	GRCh37	Chromosome 11, 88045583: 88045583
13	CTSC	NM_001814.5(CTSC): c.173-6C> T	single nucleotide variant	Likely benign	rs201763299	GRCh37	Chromosome 11, 88068256: 88068256
14	CTSC	NM_001814.5(CTSC): c.173-6C> T	single nucleotide variant	Likely benign	rs201763299	GRCh38	Chromosome 11, 88335088: 88335088
15	CTSC	NM_001814.5(CTSC): c.299A> G (p.Lys100Arg)	single nucleotide variant	Uncertain significance	rs779944464	GRCh37	Chromosome 11, 88068124: 88068124
16	CTSC	NM_001814.5(CTSC): c.299A> G (p.Lys100Arg)	single nucleotide variant	Uncertain significance	rs779944464	GRCh38	Chromosome 11, 88334956: 88334956
17	CTSC	NM_001814.5(CTSC): c.1289G> A (p.Gly430Asp)	single nucleotide variant	Uncertain significance	rs199547244	GRCh37	Chromosome 11, 88027277: 88027277
18	CTSC	NM_001814.5(CTSC): c.1289G> A (p.Gly430Asp)	single nucleotide variant	Uncertain significance	rs199547244	GRCh38	Chromosome 11, 88294109: 88294109
19	CTSC	NM_001814.5(CTSC): c.844A> G (p.Ile282Val)	single nucleotide variant	Uncertain significance	rs142364727	GRCh37	Chromosome 11, 88029346: 88029346
20	CTSC	NM_001814.5(CTSC): c.844A> G (p.Ile282Val)	single nucleotide variant	Uncertain significance	rs142364727	GRCh38	Chromosome 11, 88296178: 88296178
21	CTSC	NM_001814.5(CTSC): c.71G> A (p.Cys24Tyr)	single nucleotide variant	Uncertain significance	rs748781412	GRCh37	Chromosome 11, 88070770: 88070770
22	CTSC	NM_001814.5(CTSC): c.71G> A (p.Cys24Tyr)	single nucleotide variant	Uncertain significance	rs748781412	GRCh38	Chromosome 11, 88337602: 88337602
23	CTSC	NM_001814.5(CTSC): c.815G> C (p.Arg272Pro)	single nucleotide variant	Likely pathogenic	rs587777534	GRCh37	Chromosome 11, 88029375: 88029375
24	CTSC	NM_001814.5(CTSC): c.815G> C (p.Arg272Pro)	single nucleotide variant	Likely pathogenic	rs587777534	GRCh38	Chromosome 11, 88296207: 88296207
25	CTSC	NM_001814.5(CTSC): c.295T> C (p.Tyr99His)	single nucleotide variant	Uncertain significance	rs997358516	GRCh38	Chromosome 11, 88334960: 88334960
26	CTSC	NM_001814.5(CTSC): c.295T> C (p.Tyr99His)	single nucleotide variant	Uncertain significance	rs997358516	GRCh37	Chromosome 11, 88068128: 88068128
27	CTSC	NM_001814.5(CTSC): c.790A> C (p.Met264Leu)	single nucleotide variant	Uncertain significance	rs779749265	GRCh38	Chromosome 11, 88296232: 88296232
28	CTSC	NM_001814.5(CTSC): c.790A> C (p.Met264Leu)	single nucleotide variant	Uncertain significance	rs779749265	GRCh37	Chromosome 11, 88029400: 88029400
29	CTSC	NM_001814.5(CTSC): c.855dup (p.Gln286Serfs)	duplication	Likely pathogenic		GRCh38	Chromosome 11, 88296167: 88296167
30	CTSC	NM_001814.5(CTSC): c.855dup (p.Gln286Serfs)	duplication	Likely pathogenic		GRCh37	Chromosome 11, 88029335: 88029335

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Expression for Periodontitis, Aggressive, 1

Search GEO for disease gene expression data for Periodontitis, Aggressive, 1.

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Pathways for Periodontitis, Aggressive, 1

Pathways related to Periodontitis, Aggressive, 1 according to KEGG:

³⁷

#	Name	Kegg Source Accession
1	Lysosome	hsa04142

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GO Terms for Periodontitis, Aggressive, 1

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Sources for Periodontitis, Aggressive, 1

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²⁰ GeneAnalytics

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²³ GeneHancer via GeneCards

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²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

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³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

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⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Periodontitis, Aggressive, 1 (AP1)

Aliases & Classifications for Periodontitis, Aggressive, 1

MalaCards integrated aliases for Periodontitis, Aggressive, 1:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Periodontitis, Aggressive, 1

Related Diseases for Periodontitis, Aggressive, 1

Diseases in the Aggressive Periodontitis family:

Diseases related to Periodontitis, Aggressive, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Periodontitis, Aggressive, 1:

Symptoms & Phenotypes for Periodontitis, Aggressive, 1

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Periodontitis, Aggressive, 1:

Drugs & Therapeutics for Periodontitis, Aggressive, 1

Genetic Tests for Periodontitis, Aggressive, 1

Genetic tests related to Periodontitis, Aggressive, 1:

Anatomical Context for Periodontitis, Aggressive, 1

MalaCards organs/tissues related to Periodontitis, Aggressive, 1:

Publications for Periodontitis, Aggressive, 1

Articles related to Periodontitis, Aggressive, 1:

Genes for Periodontitis, Aggressive, 1

Genes related to Periodontitis, Aggressive, 1 (1 elite genes):

Variations for Periodontitis, Aggressive, 1

UniProtKB/Swiss-Prot genetic disease variations for Periodontitis, Aggressive, 1:

ClinVar genetic disease variations for Periodontitis, Aggressive, 1:

Expression for Periodontitis, Aggressive, 1

Pathways for Periodontitis, Aggressive, 1

Pathways related to Periodontitis, Aggressive, 1 according to KEGG:

GO Terms for Periodontitis, Aggressive, 1

Sources for Periodontitis, Aggressive, 1