Leopard Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Leopard Syndrome 2

MalaCards integrated aliases for Leopard Syndrome 2:

Name: Leopard Syndrome 2 ⁵⁷ ¹¹ ⁷³ ²⁸ ¹² ⁵ ⁷¹

Noonan Syndrome with Multiple Lentigines 2 ¹¹ ¹⁴

Lprd2 ⁵⁷ ⁷³

Leopard Syndrome, Type 2 ³⁸

Leopard Syndrome, 2 ⁴³

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Reproductive diseases Ear diseases Cardiovascular diseases

See all MalaCards categories (disease lists)

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Summaries for Leopard Syndrome 2

UniProtKB/Swiss-Prot: ⁷³ A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness.

MalaCards based summary: Leopard Syndrome 2, also known as noonan syndrome with multiple lentigines 2, is related to cholestasis-lymphedema syndrome and hypotrichosis-lymphedema-telangiectasia-renal defect syndrome. An important gene associated with Leopard Syndrome 2 is RAF1 (Raf-1 Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways/superpathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Ion channel transport. Affiliated tissues include skin, heart and testis, and related phenotypes are short neck and depressed nasal bridge

Disease Ontology: ¹¹ A Noonan syndrome with multiple lentigines that has material basis in heterozygous mutation in the RAF1 gene on chromosome 3p25.

More information from OMIM: 611554 PS151100

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Related Diseases for Leopard Syndrome 2

Diseases in the Leopard Syndrome 1 family:

Leopard Syndrome 2

Leopard Syndrome 3

Diseases related to Leopard Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)

#	Related Disease	Score	Top Affiliating Genes
1	cholestasis-lymphedema syndrome	9.8	SOX18 CCBE1
2	hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	9.8	SOX18 CCBE1
3	noonan syndrome 3	9.8	RAF1 PTPN14
4	lymphatic malformation 5	9.8	SOX18 CCBE1
5	chylothorax, congenital	9.7	SOX18 GJC2 CCBE1
6	hereditary lymphedema i	9.7	SOX18 GJC2 CCBE1
7	hereditary lymphedema ii	9.7	SOX18 GJC2 CCBE1
8	lymphedema-distichiasis syndrome	9.7	SOX18 GJC2 CCBE1
9	lutembacher's syndrome	9.7	SOX18 CALCRL
10	hennekam syndrome	9.6	SOX18 GJC2 CCBE1
11	klippel-trenaunay-weber syndrome	9.6	SOX18 CCBE1
12	hypotrichosis-lymphedema-telangiectasia syndrome	9.5	SOX18 GJC2 CALCRL
13	primary lymphedema	9.5	SOX18 GJC2 CALCRL
14	hereditary lymphedema	9.3	SOX18 GJC2 CCBE1 CALCRL
15	noonan syndrome 5	9.1	SOX18 RAF1 PTPN14 GJC2 CLCA4 CCBE1

Graphical network of the top 20 diseases related to Leopard Syndrome 2:

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Symptoms & Phenotypes for Leopard Syndrome 2

Human phenotypes related to Leopard Syndrome 2:

³⁰ (show all 18)

#	Description	HPO Source Accession
1	short neck ³⁰	HP:0000470
2	depressed nasal bridge ³⁰	HP:0005280
3	hypertelorism ³⁰	HP:0000316
4	mandibular prognathia ³⁰	HP:0000303
5	short stature ³⁰	HP:0004322
6	thick lower lip vermilion ³⁰	HP:0000179
7	dry skin ³⁰	HP:0000958
8	cubitus valgus ³⁰	HP:0002967
9	low-set ears ³⁰	HP:0000369
10	webbed neck ³⁰	HP:0000465
11	epicanthus ³⁰	HP:0000286
12	hypertrophic cardiomyopathy ³⁰	HP:0001639
13	dolichocephaly ³⁰	HP:0000268
14	downslanted palpebral fissures ³⁰	HP:0000494
15	multiple lentigines ³⁰	HP:0001003
16	cafe-au-lait spot ³⁰	HP:0000957
17	curly hair ³⁰	HP:0002212
18	abnormal sternum morphology ³⁰	HP:0000766

Clinical features from OMIM®:

611554 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Leopard Syndrome 2:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	normal	MP:0002873	9.73	CCBE1 CLCA4 CLCN7 GJC2 RAF1 SOX18
2	immune system	MP:0005387	9.7	CALCRL CCBE1 CLCN7 GJC2 PTPN14 RAF1
3	mortality/aging	MP:0010768	9.5	CALCRL CCBE1 CLCN7 GJC2 PTPN14 RAF1
4	integument	MP:0010771	9.02	CALCRL CCBE1 CLCN7 RAF1 SOX18

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Drugs & Therapeutics for Leopard Syndrome 2

Search Clinical Trials, NIH Clinical Center for Leopard Syndrome 2

Cochrane evidence based reviews: leopard syndrome, 2

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Genetic Tests for Leopard Syndrome 2

Genetic tests related to Leopard Syndrome 2:

#	Genetic test	Affiliating Genes
1	Leopard Syndrome 2 ²⁸	RAF1

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Anatomical Context for Leopard Syndrome 2

Organs/tissues related to Leopard Syndrome 2:

MalaCards : Skin, Heart, Testis

ODiseA: Testis, Heart-Atrium, Heart-Ventricle, Heart, Skin

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Publications for Leopard Syndrome 2

Articles related to Leopard Syndrome 2:

#	Title	Authors	PMID	Year
1	Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. ⁵⁷ ⁵	Pandit B...Gelb BD	17603483	2007
2	Germline gain-of-function mutations in RAF1 cause Noonan syndrome. ⁵	Razzaque MA...Matsuoka R	17603482	2007
3	Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children. ⁶²	Kuburovic V...Kuburovic N	22389993	2011

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Genes for Leopard Syndrome 2

Genes related to Leopard Syndrome 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	1342.2	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ GeneCards inferred via : Disorders Summaries (show sections)	17603482 17603483
2	CLCA4	Chloride Channel Accessory 4	Protein Coding	5.86	DISEASES inferred ¹⁴
3	CCBE1	Collagen And Calcium Binding EGF Domains 1	Protein Coding	5.64	DISEASES inferred ¹⁴
4	GJC2	Gap Junction Protein Gamma 2	Protein Coding	5.42	DISEASES inferred ¹⁴
5	PTPN14	Protein Tyrosine Phosphatase Non-Receptor Type 14	Protein Coding	5.21	DISEASES inferred ¹⁴
6	SOX18	SRY-Box Transcription Factor 18	Protein Coding	5.2	DISEASES inferred ¹⁴
7	CALCRL	Calcitonin Receptor Like Receptor	Protein Coding	5.18	DISEASES inferred ¹⁴
8	CLCN7	Chloride Voltage-Gated Channel 7	Protein Coding	5.15	DISEASES inferred ¹⁴

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Variations for Leopard Syndrome 2

ClinVar genetic disease variations for Leopard Syndrome 2:

⁵ (show top 50) (show all 80)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	RAF1	NM_002880.4(RAF1):c.788T>A (p.Val263Asp)	SNV	Pathogenic	496189	rs397516830	GRCh37: 3:12645681-12645681 GRCh38: 3:12604182-12604182
2	RAF1	NM_002880.4(RAF1):c.781C>G (p.Pro261Ala)	SNV	Pathogenic	40605	rs121434594	GRCh37: 3:12645688-12645688 GRCh38: 3:12604189-12604189
3	RAF1	NM_002880.4(RAF1):c.776C>A (p.Ser259Tyr)	SNV	Pathogenic	44633	rs397516827	GRCh37: 3:12645693-12645693 GRCh38: 3:12604194-12604194
4	RAF1	NM_002880.4(RAF1):c.505G>C (p.Gly169Arg)	SNV	Pathogenic	265535	rs886039607	GRCh37: 3:12650341-12650341 GRCh38: 3:12608842-12608842
5	RAF1	NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)	SNV	Pathogenic Pathogenic	13957	rs80338796	GRCh37: 3:12645699-12645699 GRCh38: 3:12604200-12604200
6	RAF1	NM_002880.4(RAF1):c.1837C>G (p.Leu613Val)	SNV	Pathogenic	13960	rs80338797	GRCh37: 3:12626123-12626123 GRCh38: 3:12584624-12584624
7	RAF1	NM_002880.4(RAF1):c.1082G>C (p.Gly361Ala)	SNV	Likely Pathogenic	40613	rs397516813	GRCh37: 3:12641216-12641216 GRCh38: 3:12599717-12599717
8	RAF1	NM_002880.4(RAF1):c.61G>A (p.Val21Met)	SNV	Likely Pathogenic	978721	rs752484962	GRCh37: 3:12660160-12660160 GRCh38: 3:12618661-12618661
9	RAF1	NM_002880.4(RAF1):c.773C>G (p.Thr258Arg)	SNV	Likely Pathogenic	801936	rs1575573330	GRCh37: 3:12645696-12645696 GRCh38: 3:12604197-12604197
10	RAF1	NM_002880.4(RAF1):c.122G>A (p.Arg41Gln)	SNV	Conflicting Interpretations Of Pathogenicity	40586	rs145611571	GRCh37: 3:12660099-12660099 GRCh38: 3:12618600-12618600
11	RAF1	NM_002880.3(RAF1):c.-354C>G	SNV	Uncertain Significance	902521	rs964288487	GRCh37: 3:12705639-12705639 GRCh38: 3:12664140-12664140
12	RAF1	NM_002880.4(RAF1):c.332G>A (p.Arg111His)	SNV	Uncertain Significance	930654	rs996417348	GRCh37: 3:12650823-12650823 GRCh38: 3:12609324-12609324
13	RAF1	NM_002880.4(RAF1):c.1814C>T (p.Ser605Phe)	SNV	Uncertain Significance Uncertain Significance	181512	rs730881004	GRCh37: 3:12626146-12626146 GRCh38: 3:12584647-12584647
14	RAF1	NM_002880.4(RAF1):c.601A>G (p.Ile201Val)	SNV	Uncertain Significance	432929	rs757700986	GRCh37: 3:12647779-12647779 GRCh38: 3:12606280-12606280
15	RAF1	NM_002880.4(RAF1):c.1922C>G (p.Thr641Arg)	SNV	Uncertain Significance	1696596		GRCh37: 3:12626038-12626038 GRCh38: 3:12584539-12584539
16	RAF1	NM_002880.4(RAF1):c.-27+7G>A	SNV	Uncertain Significance	40578	rs886057916	GRCh37: 3:12705305-12705305 GRCh38: 3:12663806-12663806
17	RAF1	NM_002880.4(RAF1):c.124G>A (p.Ala42Thr)	SNV	Uncertain Significance	448930	rs200856000	GRCh37: 3:12660097-12660097 GRCh38: 3:12618598-12618598
18	RAF1	NM_002880.4(RAF1):c.21T>C (p.Ala7=)	SNV	Uncertain Significance	343104	rs886057915	GRCh37: 3:12660200-12660200 GRCh38: 3:12618701-12618701
19	RAF1	NM_002880.4(RAF1):c.600T>C (p.Thr200=)	SNV	Uncertain Significance	508664	rs779808613	GRCh37: 3:12647780-12647780 GRCh38: 3:12606281-12606281
20	RAF1	NM_002880.4(RAF1):c.933C>T (p.Pro311=)	SNV	Uncertain Significance	477681	rs1553613022	GRCh37: 3:12641708-12641708 GRCh38: 3:12600209-12600209
21	RAF1	NM_002880.4(RAF1):c.226A>G (p.Met76Val)	SNV	Uncertain Significance	181507	rs730880999	GRCh37: 3:12653543-12653543 GRCh38: 3:12612044-12612044
22	RAF1	NM_002880.4(RAF1):c.-204G>C	SNV	Uncertain Significance	40576	rs547543588	GRCh37: 3:12705489-12705489 GRCh38: 3:12663990-12663990
23	RAF1	NM_002880.4(RAF1):c.1193G>T (p.Arg398Leu)	SNV	Uncertain Significance	40614	rs730880382	GRCh37: 3:12633207-12633207 GRCh38: 3:12591708-12591708
24	RAF1	NM_002880.4(RAF1):c.*113T>G	SNV	Uncertain Significance	343102	rs886057914	GRCh37: 3:12625900-12625900 GRCh38: 3:12584401-12584401
25	RAF1	NM_002880.4(RAF1):c.*643C>G	SNV	Uncertain Significance	899385	rs932173134	GRCh37: 3:12625370-12625370 GRCh38: 3:12583871-12583871
26	RAF1	NM_002880.4(RAF1):c.*630A>G	SNV	Uncertain Significance	899386	rs975583754	GRCh37: 3:12625383-12625383 GRCh38: 3:12583884-12583884
27	RAF1	NM_002880.4(RAF1):c.*628G>T	SNV	Uncertain Significance	899387	rs374944110	GRCh37: 3:12625385-12625385 GRCh38: 3:12583886-12583886
28	RAF1	NM_002880.4(RAF1):c.*162T>C	SNV	Uncertain Significance	343100	rs886057913	GRCh37: 3:12625851-12625851 GRCh38: 3:12584352-12584352
29	RAF1	NM_002880.4(RAF1):c.-146C>G	SNV	Uncertain Significance	343107	rs886057919	GRCh37: 3:12705431-12705431 GRCh38: 3:12663932-12663932
30	RAF1	NM_002880.4(RAF1):c.*640T>C	SNV	Uncertain Significance	343093	rs759464247	GRCh37: 3:12625373-12625373 GRCh38: 3:12583874-12583874
31	RAF1	NM_002880.4(RAF1):c.-110G>A	SNV	Uncertain Significance	343105	rs886057917	GRCh37: 3:12705395-12705395 GRCh38: 3:12663896-12663896
32	RAF1	NM_002880.4(RAF1):c.-181T>C	SNV	Uncertain Significance	343108	rs886057920	GRCh37: 3:12705466-12705466 GRCh38: 3:12663967-12663967
33	RAF1	NM_002880.4(RAF1):c.*627C>T	SNV	Uncertain Significance	343094	rs879160471	GRCh37: 3:12625386-12625386 GRCh38: 3:12583887-12583887
34	RAF1	NM_002880.4(RAF1):c.-139T>G	SNV	Uncertain Significance	343106	rs886057918	GRCh37: 3:12705424-12705424 GRCh38: 3:12663925-12663925
35	RAF1	NM_002880.4(RAF1):c.*73T>A	SNV	Uncertain Significance	899432	rs932588742	GRCh37: 3:12625940-12625940 GRCh38: 3:12584441-12584441
36	RAF1	NM_002880.4(RAF1):c.654A>G (p.Arg218=)	SNV	Uncertain Significance	899635	rs898490426	GRCh37: 3:12647726-12647726 GRCh38: 3:12606227-12606227
37	RAF1	NM_002880.4(RAF1):c.-201C>A	SNV	Uncertain Significance	40577	rs532668125	GRCh37: 3:12705486-12705486 GRCh38: 3:12663987-12663987
38	RAF1	NM_002880.4(RAF1):c.*410A>G	SNV	Uncertain Significance	900510	rs1055682241	GRCh37: 3:12625603-12625603 GRCh38: 3:12584104-12584104
39	RAF1	NM_002880.4(RAF1):c.231C>T (p.Ser77=)	SNV	Uncertain Significance	509193	rs1450510914	GRCh37: 3:12653538-12653538 GRCh38: 3:12612039-12612039
40	RAF1	NM_002880.4(RAF1):c.-209G>A	SNV	Uncertain Significance	177838	rs727504351	GRCh37: 3:12705494-12705494 GRCh38: 3:12663995-12663995
41	RAF1	NM_002880.4(RAF1):c.-264C>G	SNV	Uncertain Significance	900848	rs894363344	GRCh37: 3:12705549-12705549 GRCh38: 3:12664050-12664050
42	RAF1, MKRN2	NM_002880.4(RAF1):c.*841C>T	SNV	Uncertain Significance	902116	rs1461713213	GRCh37: 3:12625172-12625172 GRCh38: 3:12583673-12583673
43	RAF1	NM_002880.4(RAF1):c.1292A>C (p.Lys431Thr)	SNV	Uncertain Significance	902234	rs747632183	GRCh37: 3:12632375-12632375 GRCh38: 3:12590876-12590876
44	RAF1, MKRN2	NM_002880.4(RAF1):c.*840A>T	SNV	Uncertain Significance	903003	rs2058212896	GRCh37: 3:12625173-12625173 GRCh38: 3:12583674-12583674
45	RAF1	NM_002880.4(RAF1):c.*706C>T	SNV	Uncertain Significance	903004	rs1466261579	GRCh37: 3:12625307-12625307 GRCh38: 3:12583808-12583808
46	RAF1	NM_002880.4(RAF1):c.*647G>T	SNV	Uncertain Significance	903005	rs1457071879	GRCh37: 3:12625366-12625366 GRCh38: 3:12583867-12583867
47	RAF1	NM_002880.4(RAF1):c.*120C>A	SNV	Uncertain Significance	903051	rs1575528605	GRCh37: 3:12625893-12625893 GRCh38: 3:12584394-12584394
48	RAF1	NM_002880.4(RAF1):c.843T>A (p.Ile281=)	SNV	Uncertain Significance	903109	rs2058826353	GRCh37: 3:12641906-12641906 GRCh38: 3:12600407-12600407
49	RAF1	NM_002880.4(RAF1):c.-53G>A	SNV	Uncertain Significance	903300	rs985291322	GRCh37: 3:12705338-12705338 GRCh38: 3:12663839-12663839
50	RAF1	NM_002880.4(RAF1):c.-59C>G	SNV	Uncertain Significance	903301	rs201603517	GRCh37: 3:12705344-12705344 GRCh38: 3:12663845-12663845

UniProtKB/Swiss-Prot genetic disease variations for Leopard Syndrome 2:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	RAF1	p.Ser257Leu	VAR_037808	rs80338796
2	RAF1	p.Leu613Val	VAR_037821	rs80338797

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Expression for Leopard Syndrome 2

Search GEO for disease gene expression data for Leopard Syndrome 2.

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Pathways for Leopard Syndrome 2

Pathways related to Leopard Syndrome 2 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Neuropathic Pain-Signaling in Dorsal Horn Neurons ⁶⁴ Show member pathways Aldosterone Signaling in Epithelial Cells ⁶⁴ Cholera Infection ⁶⁴	11.92	RAF1 CLCN7 CLCA4
2	Ion channel transport ⁶⁶ Show member pathways Stimuli-sensing channels ⁶⁶	11.6	RAF1 CLCN7 CLCA4
3	Hepatic ABC Transporters ⁶⁴ Show member pathways MODY (Maturity-Onset Diabetes of Young) ⁶⁴	11.35	CLCN7 CLCA4
4	Endothelin pathways ⁷⁴	10.11	RAF1 CALCRL

Sources

GO Terms for Leopard Syndrome 2

Biological processes related to Leopard Syndrome 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	angiogenesis	GO:0001525	9.55	SOX18 CCBE1 CALCRL
2	chloride transport	GO:0006821	9.26	CLCN7 CLCA4
3	lymphangiogenesis	GO:0001946	9.1	SOX18 PTPN14 CCBE1
4	lymph vessel development	GO:0001945	8.96	SOX18 CCBE1

Sources

Sources for Leopard Syndrome 2

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

LPRD2 MCID: LPR011 MIFTS: 38	Leopard Syndrome 2 (LPRD2) Categories: Cardiovascular diseases, Ear diseases, Genetic diseases, Reproductive diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Leopard Syndrome 2 (LPRD2)

Aliases & Classifications for Leopard Syndrome 2

MalaCards integrated aliases for Leopard Syndrome 2:

Classifications:

External Ids:

Summaries for Leopard Syndrome 2

Related Diseases for Leopard Syndrome 2

Diseases in the Leopard Syndrome 1 family:

Diseases related to Leopard Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Leopard Syndrome 2:

Symptoms & Phenotypes for Leopard Syndrome 2

Human phenotypes related to Leopard Syndrome 2:

Clinical features from OMIM®:

MGI Mouse Phenotypes related to Leopard Syndrome 2:

Drugs & Therapeutics for Leopard Syndrome 2

Cochrane evidence based reviews: leopard syndrome, 2

Genetic Tests for Leopard Syndrome 2

Genetic tests related to Leopard Syndrome 2:

Anatomical Context for Leopard Syndrome 2

Organs/tissues related to Leopard Syndrome 2:

Publications for Leopard Syndrome 2

Articles related to Leopard Syndrome 2:

Genes for Leopard Syndrome 2

Genes related to Leopard Syndrome 2 (1 elite genes):

Variations for Leopard Syndrome 2

ClinVar genetic disease variations for Leopard Syndrome 2:

UniProtKB/Swiss-Prot genetic disease variations for Leopard Syndrome 2:

Expression for Leopard Syndrome 2

Pathways for Leopard Syndrome 2

Pathways related to Leopard Syndrome 2 according to GeneCards Suite gene sharing:

GO Terms for Leopard Syndrome 2

Biological processes related to Leopard Syndrome 2 according to GeneCards Suite gene sharing:

Sources for Leopard Syndrome 2