Autoimmune Lymphoproliferative Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: ATM006 MIFTS: 70	Autoimmune Lymphoproliferative Syndrome Categories: Genetic diseases, Rare diseases, Blood diseases, Immune diseases, Gastrointestinal diseases
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Aliases & Classifications for Autoimmune Lymphoproliferative Syndrome

MalaCards integrated aliases for Autoimmune Lymphoproliferative Syndrome:

Name: Autoimmune Lymphoproliferative Syndrome ⁵⁷ ¹² ²⁴ ⁵³ ²⁵ ⁵⁹ ²⁹ ⁵⁵ ⁶ ⁴⁴ ¹⁵ ⁴⁰ ⁷³

Canale-Smith Syndrome ⁵⁷ ¹² ⁵³ ²⁵ ⁵⁹ ⁷⁵

Alps ⁵⁷ ¹² ²⁴ ⁵³ ²⁵ ⁵⁹

Autoimmune Lymphoproliferative Syndrome, Type Ia ⁵⁷ ¹³ ⁷³

Autoimmune Lymphoproliferative Syndrome, Type Ib ⁵⁷ ⁷³

Autoimmune Lymphoproliferative Syndrome, Type 1b ²⁹ ⁶

Autoimmune Lymphoproliferative Syndrome, Type 1a ²⁹ ⁶

Fas Deficiency ⁵³ ⁵⁹

Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant ⁵⁷

Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant ⁵³

Autoimmune Lymphoproliferative Syndrome Type Ia ⁷⁵

Autoimmune Lymphoproliferative Syndrome Type Ib ⁷⁵

Autoimmune Lymphoproliferative Syndrome 1a ⁷⁵

Autoimmune Lymphoproliferative Syndrome 1b ⁷⁵

Autoimmune Lymphoproliferative Syndromes ³⁷

Alps1a ⁷⁵

Alps1b ⁷⁵

Css ⁷⁵

Characteristics:

Orphanet epidemiological data:

⁵⁹

autoimmune lymphoproliferative syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages;

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
onset in early childhood
recessive inheritance has been reported

HPO:

³²

autoimmune lymphoproliferative syndrome:
Inheritance autosomal dominant inheritance

GeneReviews:

²⁴

Penetrance Alps-fas. a distinction needs to be made between the penetrance of the cellular phenotype (defective fas-mediated apoptosis) and the penetrance of the clinical phenotype (i.e., alps)...

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Immune diseases Gastrointestinal diseases

See all MalaCards categories (disease lists)

ICD10: ³³ ³⁴

Neoplasms

Neoplasms of uncertain or unknown behaviour

Other neoplasms of uncertain or unknown behaviour of lymphoid, haematopoietic and related tissue

Neoplasm of uncertain or unknown behaviour of lymphoid, haematopoietic and related tissue, unspecified

Orphanet: ⁵⁹

Rare haematological diseases

Rare immunological diseases

External Ids:

OMIM ⁵⁷ 601859

Disease Ontology ¹² DOID:6688

ICD10 ³³ D47.9 D89.82

ICD9CM ³⁵ 279.41

MeSH ⁴⁴ D056735

NCIt ⁵⁰ C37864

SNOMED-CT ⁶⁸ 702444009

Orphanet ⁵⁹ ORPHA3261

MESH via Orphanet ⁴⁵ D056735

UMLS via Orphanet ⁷⁴ C1328840

ICD10 via Orphanet ³⁴ D47.9

MedGen ⁴² C1328840 C1866119 C1866121 more

KEGG ³⁷ H00108

UMLS ⁷³ C1328840 C1866119 C1866120

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Summaries for Autoimmune Lymphoproliferative Syndrome

NIH Rare Diseases : ⁵³ Autoimmune lymphoproliferative syndrome (ALPS) is a disorder in which the body cannot properly regulate the number of immune systemcells (lymphocytes). This results in the overproduction of lymphocytes, which build up and cause enlargement of the lymph nodes, liver and spleen. Affected individuals have an increased risk of developing cancer of the immune system cells (lymphoma) and may be at increased risk for other cancers. They can also have a variety of autoimmune disorders, most of which damage the blood cells. Some of the autoimmune disorders associated with ALPS can also damage the kidneys, liver, eyes, nerves, or connective tissues. Other signs and symptoms may include skin rashes, panniculitis, arthritis, inflammation of blood vessels (vasculitis), mouth sores, premature ovarian failure, and the development of neurological damage. ALPS is caused by mutations in the FAS gene in about 75% of cases. It is usually inherited in an autosomal dominant manner, although a small number of cases are inherited in an autosomal recessive manner. Some cases are also believed to arise from a mutation in the lymphocytes that is not inherited, but instead occurs during the course of an individual's lifetime. This type of alteration is called a somatic mutation. Treatment may include steroids or other medications, blood transfusions, and/or splenectomy depending on the severity of the disorder.

MalaCards based summary : Autoimmune Lymphoproliferative Syndrome, also known as canale-smith syndrome, is related to autoimmune lymphoproliferative syndrome, type iii and chronic active epstein-barr virus infection. An important gene associated with Autoimmune Lymphoproliferative Syndrome is FASLG (Fas Ligand), and among its related pathways/superpathways are Apoptosis and Signaling by GPCR. The drugs Valproic Acid and alemtuzumab have been mentioned in the context of this disorder. Affiliated tissues include lymph node, spleen and liver, and related phenotypes are urticaria and splenomegaly

OMIM : ⁵⁷ Autoimmune lymphoproliferative syndrome is a heritable disorder of apoptosis, resulting in the accumulation of autoreactive lymphocytes. It manifests in early childhood as nonmalignant lymphadenopathy with hepatosplenomegaly and autoimmune cytopenias (summary by Dowdell et al., 2010). For a review of the autoimmune lymphoproliferative syndromes, see Teachey et al. (2009). (601859)

UniProtKB/Swiss-Prot : ⁷⁵ Autoimmune lymphoproliferative syndrome 1A: A disorder of apoptosis that manifests in early childhood and results in the accumulation of autoreactive lymphocytes. It is characterized by non-malignant lymphadenopathy with hepatosplenomegaly, and autoimmune hemolytic anemia, thrombocytopenia and neutropenia.

Genetics Home Reference : ²⁵ Autoimmune lymphoproliferative syndrome (ALPS) is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). ALPS is characterized by the production of an abnormally large number of lymphocytes (lymphoproliferation). Accumulation of excess lymphocytes results in enlargement of the lymph nodes (lymphadenopathy), the liver (hepatomegaly), and the spleen (splenomegaly).

Disease Ontology : ¹² A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen.

Wikipedia : ⁷⁶ Autoimmune lymphoproliferative syndrome (ALPS), also known as Canale-Smith syndrome, is a form of... more...

GeneReviews: NBK1108

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Related Diseases for Autoimmune Lymphoproliferative Syndrome

Diseases in the Lymphoproliferative Syndrome family:

Autoimmune Lymphoproliferative Syndrome	Autoimmune Lymphoproliferative Syndrome, Type Iia
Lymphoproliferative Syndrome 1	Lymphoproliferative Syndrome 2
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune Lymphoproliferative Syndrome Due to Ctla4 Haploinsuffiency	Autosomal Recessive Lymphoproliferative Disease

Diseases related to Autoimmune Lymphoproliferative Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 124)

#	Related Disease	Score	Top Affiliating Genes
1	autoimmune lymphoproliferative syndrome, type iii	35.2	CASP10 FASLG PRKCD
2	chronic active epstein-barr virus infection	30.0	CTLA4 IL10 IL2
3	uveitis	30.0	CTLA4 IL10 IL2RA
4	hemophagocytic lymphohistiocytosis	29.5	FAS IL10 IL2RA PRF1 UNC13D
5	lymphoproliferative syndrome	29.1	CASP10 CASP8 CTLA4 FAS FASLG IL2
6	autoimmune disease	28.7	CTLA4 FAS IL10 IL2 IL2RA STAT3
7	common variable immunodeficiency	28.6	CTLA4 FAS IL10 IL2 IL2RA LRBA
8	lymphoma, non-hodgkin, familial	28.0	CASP10 CASP8 FAS IL2 IL2RA NRAS
9	autoimmune lymphoproliferative syndrome, type iia	12.6
10	autoimmune lymphoproliferative syndrome, type v	12.6
11	autoimmune lymphoproliferative syndrome due to ctla4 haploinsuffiency	12.2
12	caspase 8 deficiency	12.0
13	ras-associated autoimmune leukoproliferative disorder	12.0
14	eosinophilic granulomatosis with polyangiitis	11.5
15	churg-strauss syndrome	11.3
16	allergic angiitis	11.3
17	dianzani autoimmune lymphoproliferative disease	11.3
18	coffin-siris syndrome 1	11.2
19	infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations	11.0
20	lrba deficiency	10.8	CTLA4 LRBA
21	giant congenital nevus	10.7	HRAS NRAS
22	epstein-barr virus-associated gastric carcinoma	10.7	FAS FASLG IL10
23	type ii mixed cryoglobulinemia	10.7	FAS FASLG
24	pneumoconiosis	10.7	CASP8 FAS FASLG
25	lymphocytic gastritis	10.6	FAS FASLG
26	post-transplant lymphoproliferative disease	10.6	CASP8 FADD IL10
27	hyperlucent lung	10.6	IL10 IL2RA
28	malignant skin fibrous histiocytoma	10.5	CTLA4 HRAS NRAS
29	malignant dermis tumor	10.5	CTLA4 HRAS NRAS
30	idiopathic neutropenia	10.5	FASLG IL10 IL2RA
31	benign struma ovarii	10.5	HRAS NRAS
32	primary sjögren syndrome	10.5	FAS IL10 IL2RA
33	vogt-koyanagi-harada disease	10.5	FAS IL10 IL2RA
34	large granular lymphocyte leukemia	10.4	IL2RA STAT3
35	hypersensitivity reaction type iv disease	10.4	CASP10 FAS IL2
36	schimmelpenning-feuerstein-mims syndrome	10.4	HRAS NRAS
37	graves' disease	10.4	CTLA4 FAS FASLG IL2RA
38	chronic mucocutaneous candidiasis	10.3	IL10 IL2RA STAT3
39	t-cell large granular lymphocyte leukemia	10.3	FASLG IL2 STAT3
40	thyroiditis	10.3	CTLA4 FASLG IL2
41	hematopoietic stem cell transplantation	10.3	CTLA4 IL10 IL2
42	paracoccidioidomycosis	10.3	CTLA4 IL10 IL2
43	filariasis	10.2	CTLA4 IL10 IL2
44	lymphoma	10.2
45	b-cell expansion with nfkb and t-cell anergy	10.2	FASLG IL2 IL2RA
46	hypersensitivity reaction disease	10.2	CTLA4 IL10 IL2
47	graft-versus-host disease	10.1	FAS FASLG IL10 IL2
48	intermediate uveitis	10.1	IL10 IL2 IL2RA
49	t cell deficiency	10.1	IL2 LRBA PTPRC
50	immune system disease	10.1	CTLA4 IL10 IL2

Graphical network of the top 20 diseases related to Autoimmune Lymphoproliferative Syndrome:

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Symptoms & Phenotypes for Autoimmune Lymphoproliferative Syndrome

Symptoms via clinical synopsis from OMIM:

⁵⁷

AbdomenSpleen:
splenomegaly

Hematology:
iron deficiency anemia
eosinophilia
autoimmune hemolytic anemia
autoimmune thrombocytopenia
autoimmune neutropenia

Immunology:
chronic noninfectious lymphadenopathy
defective lymphocyte apoptosis
increased number of peripheral cd3+ t cells
increased number of cd4-/cd8- t cells expressing alpha/beta t-cell receptors
increased proportion of hla dr+ and cd57+ t cells
more

Neoplasia:
increased risk of malignant lymphoma

Abdomen Liver:
hepatomegaly

Skin Nails Hair Skin:
urticaria
vasculitis rash

Laboratory Abnormalities:
rheumatoid factor positive
increased levels of igg
increased levels of iga
increased levels of igm
direct coombs positive
more

Clinical features from OMIM:

601859

Human phenotypes related to Autoimmune Lymphoproliferative Syndrome:

³² (show all 25)

#	Description	HPO Source Accession
1	urticaria ³²	HP:0001025
2	splenomegaly ³²	HP:0001744
3	eosinophilia ³²	HP:0001880
4	autoimmune hemolytic anemia ³²	HP:0001890
5	iron deficiency anemia ³²	HP:0001891
6	autoimmune neutropenia ³²	HP:0001904
7	autoimmune thrombocytopenia ³²	HP:0001973
8	hepatomegaly ³²	HP:0002240
9	vasculitis ³²	HP:0002633
10	follicular hyperplasia ³²	HP:0002729
11	chronic noninfectious lymphadenopathy ³²	HP:0002730
12	decreased lymphocyte apoptosis ³²	HP:0002731
13	elevated proportion of cd4-negative, cd8-negative, alpha-beta regulatory t cells ³²	HP:0002851
14	increased proportion of hla dr+ t cells ³²	HP:0002853
15	rheumatoid factor positive ³²	HP:0002923
16	reduced delayed hypersensitivity ³²	HP:0002972
17	increased igg level ³²	HP:0003237
18	increased iga level ³²	HP:0003261
19	smooth muscle antibody positivity ³²	HP:0003262
20	antineutrophil antibody positivity ³²	HP:0003453
21	platelet antibody positive ³²	HP:0003454
22	antinuclear antibody positivity ³²	HP:0003493
23	increased igm level ³²	HP:0003496
24	antiphospholipid antibody positivity ³²	HP:0003613
25	coombs-positive hemolytic anemia ³²	HP:0004844

GenomeRNAi Phenotypes related to Autoimmune Lymphoproliferative Syndrome according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-1	9.84	CASP8 FADD FAS IL10 IL2 BCL2L11
2	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-2	9.84	BCL2L11 CASP8 FADD FAS IL10 IL2
3	Reduced mammosphere formation	GR00396-S	9.56	FADD FAS FASLG HRAS IL2RA NRAS

MGI Mouse Phenotypes related to Autoimmune Lymphoproliferative Syndrome:

⁴⁶ (show all 18)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	endocrine/exocrine gland	MP:0005379	10.45	BCL2L11 CASP8 CTLA4 FADD FAS FASLG
2	hematopoietic system	MP:0005397	10.45	IL2 IL2RA LRBA NRAS PRF1 PRKCD
3	homeostasis/metabolism	MP:0005376	10.44	BCL2L11 CASP8 CTLA4 FADD FAS FASLG
4	cardiovascular system	MP:0005385	10.42	FASLG HRAS IL10 IL2 BCL2L11 CASP8
5	immune system	MP:0005387	10.42	FASLG IL10 IL2 IL2RA LRBA BCL2L11
6	cellular	MP:0005384	10.38	BCL2L11 CASP8 FADD FAS FASLG IL10
7	growth/size/body region	MP:0005378	10.38	STAT3 TNFAIP3 BCL2L11 CASP8 FADD FAS
8	digestive/alimentary	MP:0005381	10.34	IL10 IL2 IL2RA NRAS PTPRC STAT3
9	mortality/aging	MP:0010768	10.34	IL2 IL2RA NRAS PRF1 PRKCD PTPRC
10	liver/biliary system	MP:0005370	10.27	CASP8 CTLA4 FADD FAS FASLG IL10
11	integument	MP:0010771	10.22	STAT3 TNFAIP3 BCL2L11 CASP8 CTLA4 FAS
12	nervous system	MP:0003631	10.15	BCL2L11 CASP8 FADD FAS FASLG HRAS
13	neoplasm	MP:0002006	10.14	BCL2L11 CASP8 FAS FASLG HRAS IL10
14	normal	MP:0002873	9.96	HRAS IL10 NRAS PRF1 PTPRC STAT3
15	no phenotypic analysis	MP:0003012	9.92	BCL2L11 FADD HRAS IL10 IL2 NRAS
16	renal/urinary system	MP:0005367	9.81	BCL2L11 CASP8 FAS FASLG HRAS PRKCD
17	respiratory system	MP:0005388	9.7	CASP8 CTLA4 FAS FASLG HRAS IL10
18	skeleton	MP:0005390	9.4	CTLA4 FADD FAS FASLG HRAS IL10

Sources

Drugs & Therapeutics for Autoimmune Lymphoproliferative Syndrome

Drugs for Autoimmune Lymphoproliferative Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 49)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Valproic Acid

Approved, Investigational

Phase 1, Phase 2

99-66-1

3121

alemtuzumab

Approved, Investigational

Phase 2

216503-57-0

Fludarabine

Approved

Phase 2

21679-14-1, 75607-67-9

30751

Melphalan

Approved

Phase 2

148-82-3

4053 460612

Thiotepa

Approved, Investigational

Phase 2

52-24-4

5453

Hydroxyurea

Approved

Phase 2

127-07-1

3657

Everolimus

Approved

Phase 1, Phase 2

159351-69-6

6442177

Miconazole

Approved, Investigational, Vet_approved

Phase 1, Phase 2

22916-47-8

4189

Sirolimus

Approved, Investigational

Phase 1, Phase 2

53123-88-9

5284616 6436030 46835353

Anticonvulsants

Phase 1, Phase 2

Antimanic Agents

Phase 1, Phase 2

Central Nervous System Depressants

Phase 1, Phase 2

GABA Agents

Phase 1, Phase 2

Neurotransmitter Agents

Phase 1, Phase 2

Psychotropic Drugs

Phase 1, Phase 2

Tranquilizing Agents

Phase 1, Phase 2

Antimetabolites

Phase 2

Anti-Infective Agents

Phase 1, Phase 2

Alkylating Agents

Phase 2

Antimetabolites, Antineoplastic

Phase 2

Antineoplastic Agents, Alkylating

Phase 2

Immunosuppressive Agents

Phase 2,Phase 1

Nucleic Acid Synthesis Inhibitors

Phase 2

Anti-Bacterial Agents

Phase 1, Phase 2

Antibiotics, Antitubercular

Phase 1, Phase 2

Antifungal Agents

Phase 1, Phase 2

Levoleucovorin

Approved, Investigational

Phase 1

68538-85-2

Pyrimethamine

Approved, Investigational, Vet_approved

Phase 1

58-14-0

4993

Sulfadoxine

Approved, Investigational

Phase 1

2447-57-6

17134

Folic Acid

Approved, Nutraceutical, Vet_approved

Phase 1

59-30-3

6037

leucovorin

Approved, Nutraceutical

Phase 1

58-05-9

143 6006

Antimalarials

Phase 1

Antiparasitic Agents

Phase 1

Antiprotozoal Agents

Phase 1

Folic Acid Antagonists

Phase 1

Vitamin B Complex

Phase 1

Fanasil, pyrimethamine drug combination

Phase 1

Renal Agents

Phase 1

Folate

Nutraceutical

Phase 1

Vitamin B9

Nutraceutical

Phase 1

Antiviral Agents

Deoxyglucose

Fluorodeoxyglucose F18

Radiopharmaceuticals

Antibodies

Autoantibodies

Immunoglobulin G

Immunoglobulins

Vaccines

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Valproic Acid (Depakote[Registered Trademark]) to Treat Autoimmune Lymphoproliferative Syndrome (ALPS)	Completed	NCT00605657	Phase 1, Phase 2	Valproic Acid
2	Immune Disorder HSCT Protocol	Recruiting	NCT01821781	Phase 2	Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
3	Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT	Recruiting	NCT01962415	Phase 2	Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
4	Sirolimus for Autoimmune Disease of Blood Cells	Active, not recruiting	NCT00392951	Phase 1, Phase 2	sirolimus
5	Pyrimethamine to Treat Autoimmune Lymphoproliferative Syndrome	Completed	NCT00065390	Phase 1	Pyrimethamine
6	Pyrimethamine and Sulfadoxine for Treatment of Autoimmune Lymphoproliferative Syndrome	Completed	NCT00013689	Phase 1	Fansidar (pyrimethamine and sulfadoxine)
7	Fluorodeoxyglucose-Positron Emission Tomography (FDG-PET) to Evaluate Autoimmune Lymphoproliferative Syndrome (ALPS) and ALPS-associated Lymphoma	Completed	NCT00068146
8	Study of Autoimmune Lymphoproliferative Syndrome (ALPS)	Recruiting	NCT00001350
9	Comparative Autoantibody and Immunologic Cell Marker Study	Enrolling by invitation	NCT02422875
10	Fluorodeoxyglucose Imaging Studies to Detect Lymphoma	Withdrawn	NCT01672918

Search NIH Clinical Center for Autoimmune Lymphoproliferative Syndrome

Cochrane evidence based reviews: autoimmune lymphoproliferative syndrome

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Genetic Tests for Autoimmune Lymphoproliferative Syndrome

Genetic tests related to Autoimmune Lymphoproliferative Syndrome:

#	Genetic test	Affiliating Genes
1	Autoimmune Lymphoproliferative Syndrome ²⁹	FAS FASLG
2	Autoimmune Lymphoproliferative Syndrome, Type 1b ²⁹	FASLG
3	Autoimmune Lymphoproliferative Syndrome, Type 1a ²⁹

Sources

Anatomical Context for Autoimmune Lymphoproliferative Syndrome

MalaCards organs/tissues related to Autoimmune Lymphoproliferative Syndrome:

⁴¹

Lymph Node, Spleen, Liver, T Cells, Kidney, Skin, Eye

Sources

Publications for Autoimmune Lymphoproliferative Syndrome

Articles related to Autoimmune Lymphoproliferative Syndrome:

(show top 50) (show all 209)

#	Title	Authors	Year
1	The Autoimmune Lymphoproliferative Syndrome with Defective FAS or FAS-Ligand Functions. ( 29911256 )	Rieux-Laucat F....Neven B.	2018
2	Possible Association of Multicentric Castleman's Disease with Autoimmune Lymphoproliferative Syndrome. ( 29682404 )	Minemura H....Ikeda K.	2018
3	Low-dose sirolimus in two cousins with autoimmune lymphoproliferative syndrome-associated infection. ( 29480551 )	Nocerino A....Tommasini A.	2018
4	Gray platelet syndrome mimicking atypical autoimmune lymphoproliferative syndrome: the key is in the blood smear. ( 29903870 )	Steinberg-Shemer O....Tamary H.	2018
5	Synergistic defects of novo FAS and homozygous UNC13D leading to autoimmune lymphoproliferative syndrome-like disease: A 10-year-old Chinese boy case report. ( 29864493 )	Gu H....Wu R.	2018
6	Autoimmune Lymphoproliferative Syndrome-FAS Patients Have an Abnormal Regulatory T Cell (Treg) Phenotype but Display Normal Natural Treg-Suppressive Function on T Cell Proliferation. ( 29686686 )	Mazerolles F....Rieux-Laucat F.	2018
7	Deficiency of ADA2 mimicking autoimmune lymphoproliferative syndrome in the absence of livedo reticularis and vasculitis. ( 29271561 )	Alsultan A....Alfadhel M.	2018
8	IgG4-related disease in autoimmune lymphoproliferative syndrome. ( 28478106 )	van de Ven A.A.J.M....Kollert F.	2017
9	TCF1 deficiency ameliorates autoimmune lymphoproliferative syndrome (ALPS)-like phenotypes of lpr/lpr mice. ( 28349581 )	Xu X....Huang Z.	2017
10	Lymphadenopathy driven by TCR-V<sub>I^</sub>8V<sub>I'</sub>1 T-cell expansion in FAS-related autoimmune lymphoproliferative syndrome. ( 29296752 )	Vavassori S....Pachlopnik Schmid J.	2017
11	Novel insights into FAS defects underlying autoimmune lymphoproliferative syndrome revealed by studies in consanguineous patients. ( 29345341 )	Ben-Mustapha I....Barbouche M.R.	2017
12	RASGRP1 mutation in autoimmune lymphoproliferative syndrome-like disease. ( 29155103 )	Mao H....Lau Y.L.	2017
13	STAT3 gain-of-function mutations associated with autoimmune lymphoproliferative syndrome like disease deregulate lymphocyte apoptosis and can be targeted by BH3 mimetic compounds. ( 28579554 )	Nabhani S....Fischer U.	2017
14	Frequency of a FAS ligand gene variant associated with inherited feline autoimmune lymphoproliferative syndrome in British shorthair cats in New Zealand. ( 28814155 )	Aberdein D....Lyons L.A.	2017
15	Pearls and pitfalls: Autoimmune lymphoproliferative syndrome and autoimmune lymphoproliferative syndrome-like disease. ( 28668112 )	Bartels A.K....Bay J.L.	2017
16	Autoimmune lymphoproliferative syndrome caused by homozygous FAS mutations with normal or residual protein expression. ( 28087326 )	Agrebi N....Ben-Mustapha I.	2017
17	A FAS-ligand variant associated with autoimmune lymphoproliferative syndrome in cats. ( 27770190 )	Aberdein D....Lyons L.A.	2017
18	Autoimmune Lymphoproliferative Syndrome Masquerading as Posttransplant Lymphoproliferative Disorder. ( 28991130 )	Jeffreys S.M....Crary S.E.	2017
19	Rare splicing defects of FAS underly severe recessive autoimmune lymphoproliferative syndrome. ( 28668589 )	Agrebi N....Barbouche M.R.	2017
20	Use of Sirolimus (Rapamycin) for Treatment of Cytopenias and Lymphoproliferation Linked to Autoimmune Lymphoproliferative Syndrome (ALPS). Two Case Reports. ( 28234735 )	Cayrol J....Garrido Colino C.	2017
21	Autoimmune lymphoproliferative syndrome: more than a FAScinating disease. ( 29123652 )	Bride K....Teachey D.	2017
22	Autoimmune Lymphoproliferative Syndrome: A Rare Cause of Disappearing HDL Syndrome. ( 27579193 )	Sriram S....Kumar S.	2016
23	Optimal Management of Autoimmune Lymphoproliferative Syndrome in Children. ( 27139496 )	George L.A....Teachey D.T.	2016
24	CORRIGENDUM to Abnormal thymic maturation and lymphoproliferation in MRL-Faslpr/lpr mice can be partially reversed by synthetic oligonucleotides: implications for systemic lupus erythematosus and autoimmune lymphoproliferative syndrome. ( 27940897 )		2016
25	Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome. ( 27789675 )	Klemann C....Neven B.	2016
26	Ocular Inflammatory Disorders in Autoimmune Lymphoproliferative Syndrome (ALPS). ( 27229379 )	Ucar D....Sen H.N.	2016
27	Bone marrow findings in autoimmune lymphoproliferative syndrome with germline FAS mutation. ( 27846610 )	Xie Y....Maric I.	2016
28	Atypical presentation of autoimmune lymphoproliferative syndrome due to CASP10 mutation. ( 27378136 )	Tripodi S.I....Badolato R.	2016
29	Pulmonary Manifestations of the Autoimmune Lymphoproliferative Syndrome. A Retrospective Study of a Unique Patient Cohort. ( 27268092 )	Lau C.Y....Olivier K.N.	2016
30	Autoimmune lymphoproliferative syndrome due to somatic FAS mutation (ALPS-sFAS) combined with a germline caspase-10 (CASP10) variation. ( 26323380 )	MartA-nez-Feito A....Allende L.M.	2016
31	Haploinsufficiency of TNFAIP3 (A20) by germline mutation is involved in autoimmune lymphoproliferative syndrome. ( 27845235 )	Takagi M....Morio T.	2016
32	Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome. ( 26907631 )	Janda A....Rizzi M.	2016
33	Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome. ( 27099149 )	VAPlkl S....Mackensen A.	2016
34	Abnormal thymic maturation and lymphoproliferation in MRL-Faslpr/lpr mice can be partially reversed by synthetic oligonucleotides: implications for systemic lupus erythematosus and autoimmune lymphoproliferative syndrome. ( 27837196 )	Ashman R.F....Lenert P.S.	2016
35	Differential regulation of miR-146a/FAS and miR-21/FASLG axes in autoimmune lymphoproliferative syndrome due to FAS mutation (ALPS-FAS). ( 27060458 )	Marega L.F....Vilela M.M.	2016
36	Unexplained lymphadenopathies: autoimmune lymphoproliferative syndrome in an adult patient. ( 27979843 )	Leal-Seabra F....Oliveira A.	2016
37	Deregulation of Fas ligand expression as a novel cause of autoimmune lymphoproliferative syndrome-like disease. ( 26113417 )	Nabhani S....Fischer U.	2015
38	Decreased activation-induced cell death by EBV-transformed B cells from a patient with autoimmune lymphoproliferative syndrome caused by a novel FASLG mutation. ( 26334989 )	Ruiz-GarcA-a R....Allende L.M.	2015
39	Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation. ( 25931386 )	Revel-Vilk S....Stepensky P.	2015
40	Approaches to Managing Autoimmune Cytopenias in Novel Immunological Disorders with Genetic Underpinnings Like Autoimmune Lymphoproliferative Syndrome. ( 26258116 )	Rao V.K.	2015
41	Janus Kinase Inhibitor Tofacitinib Shows Potent Efficacy in a Mouse Model of Autoimmune Lymphoproliferative Syndrome (ALPS). ( 26453583 )	Yokoyama S....Perera L.P.	2015
42	FAS Haploinsufficiency Caused by Extracellular Missense Mutations Underlying Autoimmune Lymphoproliferative Syndrome. ( 26563159 )	de Bielke M.G....Danielian S.	2015
43	Autoimmune lymphoproliferative syndrome caused by a homozygous FasL mutation that disrupts FasL assembly. ( 26456038 )	Sobh A....Massaad M.J.	2015
44	Updated Understanding of Autoimmune Lymphoproliferative Syndrome (ALPS). ( 25663566 )	Li P....Li F.	2015
45	Adult onset autoimmune lymphoproliferative syndrome due to somatic FAS mutation. ( 25827517 )	GarcA-a GarcA-a G.M....Elduayen Izaguirre R.	2015
46	Autoimmune Lymphoproliferative Syndrome with Red Cell Aplasia. ( 25972287 )	Meena K.R....Tamaria K.C.	2015
47	Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome. ( 26472737 )	Rensing-Ehl A....Ehl S.	2015
48	Autoimmune lymphoproliferative syndrome: an update and review of the literature. ( 25086580 )	Shah S....Tarrant T.K.	2014
49	Autoimmune lymphoproliferative syndrome with neonatal onset. ( 24906264 )	Naveed M....Mannan J.	2014
50	IL-10/Janus kinase/signal transducer and activator ofA transcription 3 signaling dysregulates Bim expression inA autoimmune lymphoproliferative syndrome. ( 25174872 )	Niss O....Hildeman D.A.	2014

Sources

Genes for Autoimmune Lymphoproliferative Syndrome

Genes related to Autoimmune Lymphoproliferative Syndrome (4 elite genes):

(show all 23)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	FASLG	Fas Ligand	Protein Coding	1805.12	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	20301287 10672498 19176318 (more) 8787672 17062728
2	FAS	Fas Cell Surface Death Receptor	Protein Coding	1759.44	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Susceptibility factor ⁵⁷ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	20301287 15640690 10340403 (more) 17605793 9028321 12657942 9695976 17999750 18070632 11418480 15160902 16291365 12215906 15459303 9136951 10807785 12930371 17725802 11513545 20408337 8642249 15557123 9108407 9028957 17301392 16537120 12353035 9542527 9322534 18223337 16271851 10329802 10575548 9106310 8787672 19217201 16524705 10960521 10594139 10200300 14592838 10515860 10403307 10090885 17336828 15870181 15459302 15140060 12149230 11246866 10691859 9760572 9609991 12819469 11830507 11397650 11380411 9821419 9787134 10672498 7540117 18948840 17724145 17601274 11318598 9811346
3	CASP10	Caspase 10	Protein Coding	419.97	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	11717445 16446975 18818883 (more) 10412980 12353035 17999750 15640690 12010812
4	PRKCD	Protein Kinase C Delta	Protein Coding	393.82	Causative germline mutation (loss of function) ⁵⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Summaries Variants (show sections)
5	CASP8	Caspase 8	Protein Coding	42.04	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications (show sections)	18818883 18424336 15160902 (more) 15640690
6	FADD	Fas Associated Via Death Domain	Protein Coding	32.94	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders (show sections)	8955195
7	NRAS	NRAS Proto-Oncogene, GTPase	Protein Coding	31.87	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries (show sections)
8	CTLA4	Cytotoxic T-Lymphocyte Associated Protein 4	Protein Coding	31.77	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
9	IL10	Interleukin 10	Protein Coding	28.4	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	12406097 19176318
10	PRF1	Perforin 1	Protein Coding	26.91	GeneCards inferred via : Publications Summaries (show sections)
11	PTPRC	Protein Tyrosine Phosphatase, Receptor Type C	Protein Coding	24.73	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	12492582 11513545
12	UNC13D	Unc-13 Homolog D	Protein Coding	22.06	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
13	LRBA	LPS Responsive Beige-Like Anchor Protein	Protein Coding	21.94	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
14	IL2RA	Interleukin 2 Receptor Subunit Alpha	Protein Coding	21.54	Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	18330725 16226439
15	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	21.49	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
16	TNFAIP3	TNF Alpha Induced Protein 3	Protein Coding	21.23	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
17	STAT3	Signal Transducer And Activator Of Transcription 3	Protein Coding	21.07	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
18	BCL2L11	BCL2 Like 11	Protein Coding	20.93	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
19	IL2	Interleukin 2	Protein Coding	20.8	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
20	TCN1	Transcobalamin 1	Protein Coding	20.46	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
21	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	10.41	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
22	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	10.08	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
23	ACTA2	Actin, Alpha 2, Smooth Muscle, Aorta	Protein Coding	8.58	GeneCards inferred via : Variants (show sections)

Sources

Variations for Autoimmune Lymphoproliferative Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Autoimmune Lymphoproliferative Syndrome:

⁷⁵ (show all 23)

#	Symbol	AA change	Variation ID	SNP ID
1	FASLG	p.Cys202Ser	VAR_075568
2	FAS	p.Thr28Ala	VAR_013417
3	FAS	p.Cys82Arg	VAR_013418
4	FAS	p.Arg121Trp	VAR_013419	rs121913078
5	FAS	p.Tyr232Cys	VAR_013423	rs121913079
6	FAS	p.Thr241Lys	VAR_013424	rs201072885
7	FAS	p.Thr241Pro	VAR_013425	rs121913076
8	FAS	p.Arg250Pro	VAR_013426	rs121913080
9	FAS	p.Arg250Gln	VAR_013427
10	FAS	p.Ala257Asp	VAR_013428
11	FAS	p.Asp260Gly	VAR_013429
12	FAS	p.Asp260Tyr	VAR_013430	rs121913086
13	FAS	p.Asp260Val	VAR_013431	rs28929498
14	FAS	p.Thr270Ile	VAR_013433	rs121913081
15	FAS	p.Glu272Gly	VAR_013434
16	FAS	p.Glu272Lys	VAR_013435
17	FAS	p.Ile310Ser	VAR_013438
18	FAS	p.Ile262Ser	VAR_058910
19	FAS	p.Val249Leu	VAR_065128
20	FAS	p.Gly253Asp	VAR_065129
21	FAS	p.Gly253Ser	VAR_065130
22	FAS	p.Ile259Arg	VAR_065131
23	FAS	p.Thr270Lys	VAR_065132

ClinVar genetic disease variations for Autoimmune Lymphoproliferative Syndrome:

⁶

(show top 50) (show all 358)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	FASLG	NM_000639.2(FASLG): c.472_555del84 (p.Met158_Glu185del)	deletion	Pathogenic	rs80358236	GRCh37	Chromosome 1, 172634782: 172634865
2	FASLG	NM_000639.2(FASLG): c.472_555del84 (p.Met158_Glu185del)	deletion	Pathogenic	rs80358236	GRCh38	Chromosome 1, 172665642: 172665725
3	FAS	NM_000043.5(FAS): c.232delG (p.Asp78Metfs)	deletion	Pathogenic	rs606231361	GRCh38	Chromosome 10, 89007735: 89007735
4	FAS	NM_000043.5(FAS): c.232delG (p.Asp78Metfs)	deletion	Pathogenic	rs606231361	GRCh37	Chromosome 10, 90767492: 90767492
5	FAS	NM_000043.5(FAS): c.334+2dupT	duplication	Pathogenic	rs606231362	GRCh38	Chromosome 10, 89007839: 89007839
6	FAS	NM_000043.5(FAS): c.334+2dupT	duplication	Pathogenic	rs606231362	GRCh37	Chromosome 10, 90767596: 90767596
7	FAS	NM_000043.5(FAS): c.721A> C (p.Thr241Pro)	single nucleotide variant	Pathogenic	rs121913076	GRCh37	Chromosome 10, 90773920: 90773920
8	FAS	NM_000043.5(FAS): c.721A> C (p.Thr241Pro)	single nucleotide variant	Pathogenic	rs121913076	GRCh38	Chromosome 10, 89014163: 89014163
9	FAS	NM_000043.5(FAS): c.569-2A> C	single nucleotide variant	Pathogenic	rs606231363	GRCh38	Chromosome 10, 89011997: 89011997
10	FAS	NM_000043.5(FAS): c.569-2A> C	single nucleotide variant	Pathogenic	rs606231363	GRCh37	Chromosome 10, 90771754: 90771754
11	FAS	NM_000043.5(FAS): c.817C> T (p.Gln273Ter)	single nucleotide variant	Pathogenic	rs121913077	GRCh37	Chromosome 10, 90774016: 90774016
12	FAS	NM_000043.5(FAS): c.817C> T (p.Gln273Ter)	single nucleotide variant	Pathogenic	rs121913077	GRCh38	Chromosome 10, 89014259: 89014259
13	FAS	NM_000043.5(FAS): c.361C> T (p.Arg121Trp)	single nucleotide variant	Pathogenic	rs121913078	GRCh37	Chromosome 10, 90768672: 90768672
14	FAS	NM_000043.5(FAS): c.361C> T (p.Arg121Trp)	single nucleotide variant	Pathogenic	rs121913078	GRCh38	Chromosome 10, 89008915: 89008915
15	FAS	NM_000043.5(FAS): c.695A> G (p.Tyr232Cys)	single nucleotide variant	Pathogenic	rs121913079	GRCh37	Chromosome 10, 90773894: 90773894
16	FAS	NM_000043.5(FAS): c.695A> G (p.Tyr232Cys)	single nucleotide variant	Pathogenic	rs121913079	GRCh38	Chromosome 10, 89014137: 89014137
17	FAS	NM_000043.5(FAS): c.779A> T (p.Asp260Val)	single nucleotide variant	Pathogenic	rs28929498	GRCh37	Chromosome 10, 90773978: 90773978
18	FAS	NM_000043.5(FAS): c.779A> T (p.Asp260Val)	single nucleotide variant	Pathogenic	rs28929498	GRCh38	Chromosome 10, 89014221: 89014221
19	FAS	NM_000043.5(FAS): c.749G> C (p.Arg250Pro)	single nucleotide variant	Likely pathogenic	rs121913080	GRCh37	Chromosome 10, 90773948: 90773948
20	FAS	NM_000043.5(FAS): c.749G> C (p.Arg250Pro)	single nucleotide variant	Likely pathogenic	rs121913080	GRCh38	Chromosome 10, 89014191: 89014191
21	FAS	NM_000043.5(FAS): c.809C> T (p.Thr270Ile)	single nucleotide variant	Pathogenic	rs121913081	GRCh37	Chromosome 10, 90774008: 90774008
22	FAS	NM_000043.5(FAS): c.809C> T (p.Thr270Ile)	single nucleotide variant	Pathogenic	rs121913081	GRCh38	Chromosome 10, 89014251: 89014251
23	FAS	NM_000043.5(FAS): c.651+2T> A	single nucleotide variant	Pathogenic	rs267607122	GRCh37	Chromosome 10, 90771840: 90771840
24	FAS	NM_000043.5(FAS): c.651+2T> A	single nucleotide variant	Pathogenic	rs267607122	GRCh38	Chromosome 10, 89012083: 89012083
25	FAS	NM_000043.5(FAS): c.73G> A (p.Ala25Thr)	single nucleotide variant	Pathogenic	rs606231364	GRCh38	Chromosome 10, 89003071: 89003071
26	FAS	NM_000043.5(FAS): c.73G> A (p.Ala25Thr)	single nucleotide variant	Pathogenic	rs606231364	GRCh37	Chromosome 10, 90762828: 90762828
27	FAS	NM_000043.5(FAS): c.968_987dup20 (p.Glu330Lysfs)	duplication	Pathogenic	rs606231365	GRCh38	Chromosome 10, 89014410: 89014429
28	FAS	NM_000043.5(FAS): c.968_987dup20 (p.Glu330Lysfs)	duplication	Pathogenic	rs606231365	GRCh37	Chromosome 10, 90774167: 90774186
29	FAS	NM_000043.5(FAS): c.740G> C (p.Gly247Ala)	single nucleotide variant	Pathogenic	rs121913085	GRCh37	Chromosome 10, 90773939: 90773939
30	FAS	NM_000043.5(FAS): c.740G> C (p.Gly247Ala)	single nucleotide variant	Pathogenic	rs121913085	GRCh38	Chromosome 10, 89014182: 89014182
31	FAS	NM_000043.5(FAS): c.651+2T> C	single nucleotide variant	Pathogenic	rs267607122	GRCh37	Chromosome 10, 90771840: 90771840
32	FAS	NM_000043.5(FAS): c.651+2T> C	single nucleotide variant	Pathogenic	rs267607122	GRCh38	Chromosome 10, 89012083: 89012083
33	FAS	NM_000043.5(FAS): c.692_693insT (p.Lys231Asnfs)	insertion	Pathogenic	rs606231366	GRCh38	Chromosome 10, 89014134: 89014135
34	FAS	NM_000043.5(FAS): c.692_693insT (p.Lys231Asnfs)	insertion	Pathogenic	rs606231366	GRCh37	Chromosome 10, 90773891: 90773892
35	FAS	NM_000043.5(FAS): c.778G> T (p.Asp260Tyr)	single nucleotide variant	Pathogenic	rs121913086	GRCh37	Chromosome 10, 90773977: 90773977
36	FAS	NM_000043.5(FAS): c.778G> T (p.Asp260Tyr)	single nucleotide variant	Pathogenic	rs121913086	GRCh38	Chromosome 10, 89014220: 89014220
37	FASLG	NM_000639.2(FASLG): c.466A> G (p.Arg156Gly)	single nucleotide variant	Pathogenic	rs80358238	GRCh37	Chromosome 1, 172634776: 172634776
38	FASLG	NM_000639.2(FASLG): c.466A> G (p.Arg156Gly)	single nucleotide variant	Pathogenic	rs80358238	GRCh38	Chromosome 1, 172665636: 172665636
39	FAS	NM_000043.5(FAS): c.183G> A (p.Lys61=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs3218613	GRCh37	Chromosome 10, 90762938: 90762938
40	FAS	NM_000043.5(FAS): c.183G> A (p.Lys61=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs3218613	GRCh38	Chromosome 10, 89003181: 89003181
41	FASLG	NM_000639.2(FASLG): c.263delT (p.Phe88Serfs)	deletion	Pathogenic	rs587776450	GRCh37	Chromosome 1, 172628604: 172628604
42	FASLG	NM_000639.2(FASLG): c.263delT (p.Phe88Serfs)	deletion	Pathogenic	rs587776450	GRCh38	Chromosome 1, 172659464: 172659464
43	FAS	NM_000043.5(FAS): c.369G> A (p.Gln123=)	single nucleotide variant	Benign/Likely benign	rs28362318	GRCh38	Chromosome 10, 89008923: 89008923
44	FAS	NM_000043.5(FAS): c.369G> A (p.Gln123=)	single nucleotide variant	Benign/Likely benign	rs28362318	GRCh37	Chromosome 10, 90768680: 90768680
45	FAS	NM_000043.5(FAS): c.642T> C (p.Thr214=)	single nucleotide variant	Benign	rs2234978	GRCh38	Chromosome 10, 89012072: 89012072
46	FAS	NM_000043.5(FAS): c.642T> C (p.Thr214=)	single nucleotide variant	Benign	rs2234978	GRCh37	Chromosome 10, 90771829: 90771829
47	FASLG	NM_000639.2(FASLG): c.-16T> C	single nucleotide variant	Likely benign	rs781373207	GRCh37	Chromosome 1, 172628326: 172628326
48	FASLG	NM_000639.2(FASLG): c.-16T> C	single nucleotide variant	Likely benign	rs781373207	GRCh38	Chromosome 1, 172659186: 172659186
49	FASLG	NM_000639.2(FASLG): c.177_182delGCCGCC (p.Pro61_Pro62del)	deletion	Uncertain significance	rs886045570	GRCh38	Chromosome 1, 172659378: 172659383
50	FASLG	NM_000639.2(FASLG): c.177_182delGCCGCC (p.Pro61_Pro62del)	deletion	Uncertain significance	rs886045570	GRCh37	Chromosome 1, 172628518: 172628523

Sources

Expression for Autoimmune Lymphoproliferative Syndrome

Search GEO for disease gene expression data for Autoimmune Lymphoproliferative Syndrome.

Sources

Pathways for Autoimmune Lymphoproliferative Syndrome

Pathways related to Autoimmune Lymphoproliferative Syndrome according to KEGG:

³⁷

#	Name	Kegg Source Accession
1	Apoptosis	hsa04210

Pathways related to Autoimmune Lymphoproliferative Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 98)

#	Super pathways	Score	Top Affiliating Genes
1	Signaling by GPCR ⁶⁶ Show member pathways GPCR downstream signaling ⁶⁶ Signal Transduction ⁶⁶	14.26	BCL2L11 CASP10 CASP8 FADD FAS FASLG
2	Innate Immune System ⁶⁶ Show member pathways Immune System ⁶⁶ Neutrophil degranulation ⁶⁶	13.99	CASP10 CASP8 CTLA4 FADD FASLG HRAS
3	Apoptotic Pathways in Synovial Fibroblasts ⁶⁴ Show member pathways Actin-Based Motility by Rho Family GTPases ⁶⁴ Cellular Apoptosis Pathway ⁶⁴ DHA Signaling ⁶⁴ eIF2 Pathway ⁶⁴ ERK5 Signaling ⁶⁴ Glioma Invasiveness ⁶⁴ Mitochondrial Apoptosis ⁶⁴ Nuclear Receptor Activation by Vitamin-A ⁶⁴ p53 Mediated Apoptosis ⁶⁴ PPAR Pathway ⁶⁴ Rac1 Pathway ⁶⁴ Rap1 Pathway ⁶⁴ Telomerase Components in Cell Signaling ⁶⁴	13.95	BCL2L11 CASP10 CASP8 FADD FAS FASLG
4	ERK Signaling ⁶⁴ Show member pathways ILK Signaling ⁶⁴ MAPK Signaling ⁶⁴ Molecular Mechanisms of Cancer ⁶⁴ Rho Family GTPases ⁶⁴	13.92	BCL2L11 CASP10 CASP8 FADD FAS FASLG
5	PEDF Induced Signaling ⁶⁴ Show member pathways all-trans-Retinoic Acid Signaling in Brain ⁶⁴ Cytokine-cytokine receptor interaction ³⁷ Endothelin-1 Signaling Pathway ⁶⁴ Glucocorticoid Receptor Signaling ⁶⁴ IL-6 Pathway ⁶⁴ MIF Mediated Glucocorticoid Regulation ⁶⁴ MIF Regulation of Innate Immune Cells ⁶⁴ NFAT Signaling and Lymphocyte Interactions ⁶⁴ PGC1Alpha Pathway ⁶⁴ RAR-Gamma-RXR-Alpha Degradation ⁶⁴ STAT3 Pathway ⁶⁴	13.75	CASP10 CASP8 FAS FASLG HRAS IL10
6	Akt Signaling ⁶⁴ Show member pathways p38 Signaling ⁶⁴ Tec Kinases Signaling ⁶⁴	13.49	FADD FAS FASLG HRAS IL10 IL2
7	Cytokine Signaling in Immune system ⁶⁶ Show member pathways Signaling by Interleukins ⁶⁶	13.44	FASLG HRAS IL10 IL2 IL2RA NRAS
8	PAK Pathway ⁶⁴ Show member pathways Antioxidant Action of Vitamin-C ⁶⁴ Epithelial Adherens Junctions ⁶⁴	13.28	CASP10 CASP8 FAS FASLG HRAS IL10
9	p70S6K Signaling ⁶⁴ Show member pathways mTOR Pathway ⁶⁴ Renin-Angiotensin Pathway ⁶⁴	13.11	HRAS IL2 IL2RA NRAS PRKCD STAT3
10	Toll-like Receptor Signaling Pathway ³⁷ ¹ Show member pathways Chagas disease (American trypanosomiasis) ³⁷ NOD-like receptor signaling pathway ³⁷ NOD-like Receptor Signaling Pathways ⁶⁵ Regulation of toll-like receptor signaling pathway ¹	13.1	CASP8 FADD FAS FASLG IL10 IL2
11	Development Angiotensin activation of ERK ²² Show member pathways Cell adhesion Integrin inside-out signaling ²² Development ACM2 and ACM4 activation of ERK ²² Development Angiotensin signaling via PYK2 ²² Development EDNRB signaling ²² Development EPO-induced MAPK pathway ²² Development G-Proteins mediated regulation MARK-ERK signaling ²² Signal transduction IP3 signaling ²²	13.01	CASP10 CASP8 FADD FAS FASLG HRAS
12	TCR Signaling (Qiagen) ⁶⁴ Show member pathways Fc-EpsilonRI Pathway ⁶⁴ PDGF Pathway ⁶⁴ PKC-Theta Pathway ⁶⁴ TCR Signaling ⁶⁴	13	CTLA4 HRAS NRAS PRKCD PTPRC STAT3
13	PI3K-Akt signaling pathway ³⁷ Show member pathways Human papillomavirus infection ³⁷	13	BCL2L11 CASP8 FADD FAS FASLG HRAS
14	CCR5 Pathway in Macrophages ⁶⁴ Show member pathways Androgen Signaling ⁶⁴ Chemokine Signaling ⁶⁴ Chemokine signaling pathway ³⁷	12.96	FAS FASLG HRAS NRAS PRKCD STAT3
15	MAPK-Erk Pathway ⁶⁷ Show member pathways Actin Dynamics Signaling Pathway ⁶⁷ G Protein-coupled Receptors Signaling ⁶⁷	12.89	BCL2L11 HRAS NRAS PRKCD STAT3
16	IL-2 Pathway ⁶⁴ Show member pathways HMGB1 Pathway ⁶⁴ LPS Stimulated MAPK Signaling ⁶⁴ PACAP Signaling ⁶⁴ PI3K Signaling in B-Lymphocyte ⁶⁴ TREM1 Pathway ⁶⁴	12.88	HRAS IL2 IL2RA NRAS PRKCD PTPRC
17	Influenza A ³⁷ Show member pathways Herpes simplex infection ³⁷ Measles ³⁷	12.87	CASP8 FADD FAS FASLG IL2 IL2RA
18	MAPK signaling pathway ¹ ³⁷	12.85	CASP8 FAS FASLG HRAS NRAS PRKCD
19	Glioma ³⁷ Show member pathways EGFR tyrosine kinase inhibitor resistance ³⁷ Endocrine resistance ³⁷ Melanoma ³⁷ Non-small cell lung cancer ³⁷ Signaling Pathways in Glioblastoma ¹	12.83	BCL2L11 HRAS NRAS PRKCD STAT3
20	Development HGF signaling pathway ²² Show member pathways Apoptosis and survival Anti-apoptotic action of membrane-bound ESR1 ²² Apoptosis and survival NGF signaling pathway ²² Apoptosis and survival Role of CDK5 in neuronal death and survival ²² Development Neurotrophin family signaling ²² MET activates PTPN11 ⁶⁶ MET activates STAT3 ⁶⁶ Neurotrophin signaling pathway ³⁷ Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met) ¹ Signaling of Hepatocyte Growth Factor Receptor ¹	12.8	FAS FASLG HRAS NRAS PRKCD STAT3
21	TNFR1 Pathway ⁶⁴ Show member pathways Apoptosis and survival TNFR1 signaling pathway ²² Apoptosis through Death Receptors ⁶⁴ Apoptotic Pathways Triggered By HIV1 ⁶⁴ DR3 Signaling ⁶⁴ Fas Signaling ⁶⁴ GITR Pathway ⁶⁴ HIV-1 Nef- Negative effector of Fas and TNF-alpha ¹ Stimulation of the cell death response by PAK-2p34 ⁶⁶ TNF alpha Signaling Pathway ¹ TNF related weak inducer of apoptosis (TWEAK) Signaling Pathway ¹ TNF Signaling ⁶⁴ TRAIL Pathway ⁶⁴ TWEAK Pathway ⁶⁴	12.8	CASP10 CASP8 FADD FAS FASLG HRAS
22	Apoptosis Modulation and Signaling ¹ Show member pathways Apoptosis ³⁷ Apoptosis ¹ Apoptosis and survival Apoptotic TNF-family pathways ²² Apoptosis Signaling Pathways ⁶⁵ Death Receptor Signaling ⁶⁷	12.79	BCL2L11 CASP10 CASP8 FADD FAS FASLG
23	Chks in Checkpoint Regulation ⁶⁴ Show member pathways DNA Repair Mechanisms ⁶⁴ Estrogen-mediated S-Phase Entry ⁶⁴ G2-M Phase Transition ⁶⁴ Parkinson's Disease Pathway ⁶⁴ SREBP Proteolysis ⁶⁴	12.78	BCL2L11 CASP10 CASP8 FADD FAS FASLG
24	4-1BB Pathway ⁶⁴ Show member pathways CD27 Pathway ⁶⁴ CD40 Signaling ⁶⁴ CMV and MAPK Pathways ⁶⁴ NF-KappaB Activation by EBV ⁶⁴ NF-kappaB Activation by Viruses ⁶⁴ PKR Pathway ⁶⁴ SUMO Pathway ⁶⁴ TNFR2 Pathway ⁶⁴	12.76	FAS FASLG HRAS NRAS PRKCD STAT3
25	Development Endothelin-1/EDNRA signaling ²² Show member pathways Cytoskeleton remodeling FAK signaling ²² Development Endothelin-1/EDNRA transactivation of EGFR ²² GnRH signaling pathway ³⁷ Inflammatory mediator regulation of TRP channels ³⁷	12.73	CASP8 FADD HRAS NRAS PRKCD
26	Regulation of IFNA signaling ⁶⁶ Show member pathways Cytokine Network ⁶⁴ Immune response IFN alpha/beta signaling pathway ²² Interferon alpha/beta signaling ⁶⁶ Interleukin-19, 20, 22, 24 ⁶⁶ Jak/STAT Signaling Pathway ⁶⁵ Jak-STAT signaling pathway ³⁷	12.72	HRAS IL10 IL2 IL2RA STAT3
27	Pathways in cancer ³⁷	12.68	BCL2L11 CASP8 FADD FAS FASLG HRAS
28	Immune response IL-23 signaling pathway ²² Show member pathways Angiopoietin receptor Tie2-mediated signaling ¹ Angiopoietin-TIE2 Signaling ⁶⁴ Development Angiopoietin - Tie2 signaling ²² Development PDGF signaling via STATs and NF-kB ²² IL23-mediated signaling events ¹ Immune response IL-10 signaling pathway ²² Rac1/Pak1/p38/MMP-2 pathway ¹	12.67	HRAS IL10 IL2 NRAS STAT3
29	Development EGFR signaling pathway ²² Show member pathways Development ERBB-family signaling ²² EGF Pathway ⁶⁴ EGFR Signaling Pathway ⁶⁷ ErbB receptor signaling network ¹	12.63	CASP10 CASP8 HRAS NRAS PRKCD STAT3
30	Immune response Role of DAP12 receptors in NK cells ²² Show member pathways Immune response CD16 signaling in NK cells ²² Natural killer cell mediated cytotoxicity ³⁷	12.61	FAS FASLG HRAS IL2 NRAS PRF1
31	TRAF Pathway ⁶⁴ Show member pathways 14-3-3 Induced Apoptosis ⁶⁴ TNF Superfamily Pathway ⁶⁴ Toll-Like Receptors Pathway ⁶⁴	12.6	CASP10 CASP8 FADD FASLG TNFAIP3
32	Kaposi's sarcoma-associated herpesvirus infection ³⁷ Show member pathways Hepatitis B ³⁷	12.58	CASP10 CASP8 FADD FAS FASLG HRAS
33	BMP Pathway ⁶⁴ Show member pathways Caspase Cascade ⁶⁴ Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels ⁶⁶ DREAM Repression and Dynorphin Expression ⁶⁴ nNOS Signaling in Skeletal Muscle ⁶⁴ TOB in Osteoblast Signaling ⁶⁴	12.57	CASP10 CASP8 FADD FAS FASLG PRF1
34	Prolactin Signaling Pathway ¹ ³⁷ Show member pathways Development Prolactin receptor signaling ²² Leptin signaling pathway ¹	12.53	HRAS NRAS PRKCD STAT3
35	ErbB signaling pathway ¹ ³⁷ Show member pathways EGFR Inhibitor Pathway, Pharmacodynamics ⁶¹ Renal cell carcinoma ³⁷ TCA Cycle Nutrient Utilization and Invasiveness of Ovarian Cancer ¹	12.52	BCL2L11 HRAS NRAS STAT3
36	Th17 cell differentiation ³⁷ Show member pathways Inflammatory bowel disease (IBD) ³⁷ Th1 and Th2 cell differentiation ³⁷	12.5	IL10 IL2 IL2RA STAT3
37	Apoptosis Pathway ⁷² Show member pathways Akt Pathway ⁷² NF-kappaB Pathway ⁷²	12.5	CASP10 CASP8 HRAS IL2 IL2RA NRAS
38	CNTF Signaling ⁶⁴ Show member pathways BDNF Pathway ⁶⁴ FLT3 Signaling ⁶⁴ IL-3 Pathway ⁶⁴ Nur77-Induced AICD in Macrophage ⁶⁴ OSM Pathway ⁶⁴	12.49	HRAS NRAS PRKCD STAT3
39	CLEC7A (Dectin-1) signaling ⁶⁶ Show member pathways Alternative NF-kappaB pathway ¹ CLEC7A/inflammasome pathway ⁶⁶ C-type lectin receptors (CLRs) ⁶⁶	12.48	CASP8 HRAS NRAS PRKCD
40	ICos-ICosL Pathway in T-Helper Cell ⁶⁴ Show member pathways Calcium Mediated T-Cell Apoptosis ⁶⁴ CD28 Signaling in T-Helper Cell ⁶⁴	12.48	CTLA4 IL2 IL2RA PRKCD PTPRC
41	HTLV-I infection ³⁷	12.47	HRAS IL2 IL2RA NRAS
42	B cell receptor signaling pathway (KEGG) ³⁷ Show member pathways B Cell Receptor Signaling Pathway ¹ BCR signaling pathway ¹	12.44	HRAS NRAS PRKCD PTPRC
43	TNF signaling (REACTOME) ⁶⁶ Show member pathways Death Receptor Signalling ⁶⁶ Regulation of TNFR1 signaling ⁶⁶ TNF receptor signaling pathway ¹ TNFR1-induced NFkappaB signaling pathway ⁶⁶ TNFR1-induced proapoptotic signaling ⁶⁶ TNFR1-mediated ceramide production ⁶⁶	12.44	CASP10 CASP8 FADD FAS FASLG TNFAIP3
44	Allograft rejection ¹ ³⁷ Show member pathways Antigen processing and presentation ³⁷ Asthma ³⁷ Autoimmune thyroid disease ³⁷ CTL Mediated Apoptosis ⁶⁴ Graft-versus-host disease ³⁷ Intestinal immune network for IgA production ³⁷ THC Differentiation Pathway ⁶⁴ Type I diabetes mellitus ³⁷ Viral myocarditis ³⁷	12.44	CASP8 CTLA4 FADD FAS FASLG HRAS
45	MET promotes cell motility ⁶⁶ Show member pathways Alpha 6 Beta 4 signaling pathway ¹ Laminin interactions ⁶⁶ MET activates PTK2 signaling ⁶⁶ MET activates RAP1 and RAC1 ⁶⁶ MET activates RAS signaling ⁶⁶ MET interacts with TNS proteins ⁶⁶ MET Receptor Activation ⁶⁶ MET receptor recycling ⁶⁶ Signaling by MET ⁶⁶	12.41	HRAS NRAS PRKCD STAT3
46	IL-17 Family Signaling Pathways ⁶⁵ Show member pathways IL17 signaling pathway ¹ IL-17 signaling pathway ³⁷ Interleukin-17 signaling ⁶⁶ Mucin expression in CF via IL-6, IL-17 signaling pathways ²²	12.39	CASP8 FADD STAT3 TNFAIP3
47	B Cell Receptor Signaling Pathway (sino) ⁶⁷ Show member pathways B Cell Receptor Signaling Pathway ⁶⁷	12.39	HRAS NRAS PRKCD PTPRC
48	Regulation by c-FLIP ⁶⁶ Show member pathways CASP8 activity is inhibited ⁶⁶ Caspase activation via extrinsic apoptotic signalling pathway ⁶⁶ Dimerization of procaspase-8 ⁶⁶ FAS (CD95) signaling pathway ¹ Ligand-dependent caspase activation ⁶⁶ Ligand-independent caspase activation via DCC ⁶⁶ Regulated Necrosis ⁶⁶ Regulation of necroptotic cell death ⁶⁶ RIPK1-mediated regulated necrosis ⁶⁶ TRAIL signaling ⁶⁶ TRAIL signaling pathway ¹	12.39	CASP10 CASP8 FADD FAS FASLG
49	Proteoglycans in cancer ³⁷	12.39	FAS FASLG HRAS NRAS STAT3
50	Viral carcinogenesis ³⁷	12.36	CASP8 HRAS NRAS STAT3

Sources

GO Terms for Autoimmune Lymphoproliferative Syndrome

Cellular components related to Autoimmune Lymphoproliferative Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	membrane raft	GO:0045121	9.65	CASP8 FADD FAS FASLG PTPRC
2	external side of plasma membrane	GO:0009897	9.62	CTLA4 FASLG IL2RA PTPRC
3	death-inducing signaling complex	GO:0031264	9.33	CASP8 FADD FAS
4	ripoptosome	GO:0097342	9.13	CASP10 CASP8 FADD
5	CD95 death-inducing signaling complex	GO:0031265	8.92	CASP10 CASP8 FADD FAS

Biological processes related to Autoimmune Lymphoproliferative Syndrome according to GeneCards Suite gene sharing:

(show all 41)

#	Name	GO ID	Score	Top Affiliating Genes
1	MAPK cascade	GO:0000165	9.98	HRAS IL2 IL2RA NRAS
2	response to lipopolysaccharide	GO:0032496	9.95	CASP8 FAS FASLG IL10
3	cell surface receptor signaling pathway	GO:0007166	9.95	CASP10 CASP8 FADD HRAS IL2RA PTPRC
4	defense response to virus	GO:0051607	9.94	FADD PRF1 PTPRC UNC13D
5	positive regulation of I-kappaB kinase/NF-kappaB signaling	GO:0043123	9.93	CASP10 CASP8 FADD FASLG
6	cellular response to mechanical stimulus	GO:0071260	9.84	CASP8 FADD FAS
7	positive regulation of T cell proliferation	GO:0042102	9.83	IL2 IL2RA PTPRC
8	negative regulation of inflammatory response	GO:0050728	9.83	IL10 IL2 IL2RA PRKCD TNFAIP3
9	positive regulation of interferon-gamma production	GO:0032729	9.79	FADD HRAS IL2
10	negative regulation of T cell proliferation	GO:0042130	9.77	CTLA4 IL10 IL2RA
11	execution phase of apoptosis	GO:0097194	9.77	CASP10 CASP8 PRKCD
12	activation of cysteine-type endopeptidase activity involved in apoptotic process	GO:0006919	9.77	CASP10 CASP8 FADD FAS FASLG
13	extrinsic apoptotic signaling pathway	GO:0097191	9.76	CASP8 FADD FAS FASLG
14	B cell proliferation	GO:0042100	9.74	IL10 PRKCD PTPRC
15	extrinsic apoptotic signaling pathway via death domain receptors	GO:0008625	9.73	CASP8 FADD FASLG
16	extrinsic apoptotic signaling pathway in absence of ligand	GO:0097192	9.72	BCL2L11 FADD IL2
17	apoptotic signaling pathway	GO:0097190	9.72	CASP10 CASP8 FADD FAS FASLG
18	T cell homeostasis	GO:0043029	9.71	BCL2L11 FADD IL2RA
19	positive regulation of activated T cell proliferation	GO:0042104	9.7	FADD IL2 IL2RA
20	regulation of regulatory T cell differentiation	GO:0045589	9.69	CTLA4 IL2 IL2RA
21	positive regulation of macrophage differentiation	GO:0045651	9.68	CASP8 FADD
22	response to molecule of bacterial origin	GO:0002237	9.68	IL10 TNFAIP3
23	activation of cysteine-type endopeptidase activity	GO:0097202	9.68	CASP8 FADD
24	regulation of necroptotic process	GO:0060544	9.67	CASP8 FADD
25	toll-like receptor 3 signaling pathway	GO:0034138	9.67	CASP8 FADD
26	interleukin-2-mediated signaling pathway	GO:0038110	9.67	IL2 IL2RA
27	death-inducing signaling complex assembly	GO:0071550	9.65	CASP8 FADD
28	negative regulation of lymphocyte proliferation	GO:0050672	9.63	IL2 IL2RA
29	regulation of T cell homeostatic proliferation	GO:0046013	9.58	IL2 IL2RA
30	TRAIL-activated apoptotic signaling pathway	GO:0036462	9.58	CASP8 FADD
31	necroptotic signaling pathway	GO:0097527	9.58	FADD FAS FASLG
32	regulation of extrinsic apoptotic signaling pathway via death domain receptors	GO:1902041	9.56	CASP8 FADD FAS FASLG
33	activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway	GO:0097296	9.46	CASP8 FADD FAS FASLG
34	apoptotic process	GO:0006915	9.36	BCL2L11 CASP10 CASP8 FADD FAS FASLG
35	negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	GO:1902042	9.35	CASP8 FADD FAS FASLG TNFAIP3
36	neutrophil degranulation	GO:0043312	10.06	NRAS PRKCD PTPRC TCN1 UNC13D
37	inflammatory response	GO:0006954	10.04	FAS IL10 IL2RA STAT3 TNFAIP3
38	immune response	GO:0006955	10.04	CTLA4 FAS FASLG IL10 IL2 IL2RA
39	positive regulation of apoptotic process	GO:0043065	10.02	BCL2L11 CTLA4 FADD FAS FASLG
40	regulation of apoptotic process	GO:0042981	10.01	BCL2L11 CASP10 CASP8 FADD FAS
41	cytokine-mediated signaling pathway	GO:0019221	10	FASLG IL10 IL2 IL2RA STAT3

Molecular functions related to Autoimmune Lymphoproliferative Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	identical protein binding	GO:0042802	9.87	CASP8 FADD FAS PRF1 PTPRC STAT3
2	kinase binding	GO:0019900	9.61	FAS PRKCD TNFAIP3
3	tumor necrosis factor receptor binding	GO:0005164	9.43	CASP8 FADD FASLG
4	cysteine-type endopeptidase activity involved in execution phase of apoptosis	GO:0097200	9.4	CASP10 CASP8
5	cysteine-type endopeptidase activity involved in apoptotic signaling pathway	GO:0097199	9.37	CASP10 CASP8
6	death receptor binding	GO:0005123	9.13	CASP8 FADD FASLG
7	death effector domain binding	GO:0035877	8.8	CASP10 CASP8 FADD
8	protein binding	GO:0005515	10.13	BCL2L11 CASP10 CASP8 CTLA4 FADD FAS

Sources

Sources for Autoimmune Lymphoproliferative Syndrome

¹ BioSystems

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