Candidiasis, Familial, 6 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

CANDF6 MCID: CND037 MIFTS: 35	Candidiasis, Familial, 6 (CANDF6) Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases, Skin diseases
Genes Variations Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Candidiasis, Familial, 6

MalaCards integrated aliases for Candidiasis, Familial, 6:

Name: Candidiasis, Familial, 6 ⁵⁷ ⁷² ²⁹ ⁶ ⁷⁰

Candidiasis, Familial, 6, Autosomal Dominant ⁵⁷ ²⁹ ¹³

Candidiasis, Familial Chronic Mucocutaneous, Autosomal Dominant ⁵⁷ ⁶

Candf6 ⁵⁷ ⁷²

Autoimmune Enteropathy and Endocrinopathy-Susceptibility to Chronic Infections Syndrome ²⁰

Autosomal Dominant Candidiasis Familial Chronic Mucocutaneous ²⁰

Candidiasis Familial Chronic Mucocutaneous Autosomal Dominant ⁷²

Familial Chronic Mucocutaneous, Autosomal Dominant ²⁰

Chronic Mucocutaneous Candidiasis 6 ⁷²

Candidiasis, Familial, Type 6 ³⁹

Immunodeficiency 31c; Imd31c ²⁰

Candidiasis, Familial, 7 ⁷⁰

Candidiasis Familial, 7 ²⁰

Candf7 ²⁰

Characteristics:

HPO:

³¹

candidiasis, familial, 6:
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 613956

OMIM Phenotypic Series ⁵⁷ PS114580

MeSH ⁴⁴ D002178

MedGen ⁴¹ C3151405

SNOMED-CT via HPO ⁶⁸ 234568006 263681008

UMLS ⁷⁰ C3151405 C3279990

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Summaries for Candidiasis, Familial, 6

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 391487 Definition An extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis /osteopenia.

MalaCards based summary : Candidiasis, Familial, 6, also known as candidiasis, familial, 6, autosomal dominant, is related to immunodeficiency 31c and candidiasis, familial, 1. An important gene associated with Candidiasis, Familial, 6 is IL17F (Interleukin 17F), and among its related pathways/superpathways are IL-9 Signaling Pathways and Immune response IL-23 signaling pathway. Related phenotype is chronic mucocutaneous candidiasis.

UniProtKB/Swiss-Prot : ⁷² Candidiasis, familial, 6: A primary immunodeficiency disorder with altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans.

More information from OMIM: 613956 PS114580

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Related Diseases for Candidiasis, Familial, 6

Diseases in the Candidiasis family:

Candidiasis, Familial, 1	Candidiasis, Familial, 2
Candidiasis, Familial, 3	Candidiasis, Familial, 4
Candidiasis, Familial, 6	Candidiasis, Familial, 8
Candidiasis, Familial, 9

Diseases related to Candidiasis, Familial, 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)

#	Related Disease	Score	Top Affiliating Genes
1	immunodeficiency 31c	32.1	STAT1 IL21R
2	candidiasis, familial, 1	11.5
3	hyper ige syndrome	9.8	IL21R IL17F
4	candidiasis	9.7	STAT1 IL17F
5	hyper ige recurrent infection syndrome 1	9.7	STAT1 IL17F
6	nail disease	9.7	STAT1 IL17F
7	opportunistic mycosis	9.7	STAT1 IL17F
8	fungal infectious disease	9.7	STAT1 IL17F
9	chronic mucocutaneous candidiasis	9.6	STAT1 IL17F
10	integumentary system disease	9.6	STAT1 IL17F
11	mouth disease	9.6	STAT1 IL17F
12	combined immunodeficiency	9.5	STAT1 IL21R
13	inflammatory bowel disease	9.4	STAT1 IL21R IL17F
14	systemic lupus erythematosus	9.2	STAT1 IL21R IL17F

Graphical network of the top 20 diseases related to Candidiasis, Familial, 6:

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Symptoms & Phenotypes for Candidiasis, Familial, 6

Human phenotypes related to Candidiasis, Familial, 6:

³¹

#	Description	HPO Frequency	HPO Source Accession
1	chronic mucocutaneous candidiasis ³¹		HP:0002728

Clinical features from OMIM®:

613956 (Updated 20-May-2021)

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Drugs & Therapeutics for Candidiasis, Familial, 6

Search Clinical Trials , NIH Clinical Center for Candidiasis, Familial, 6

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Genetic Tests for Candidiasis, Familial, 6

Genetic tests related to Candidiasis, Familial, 6:

#	Genetic test	Affiliating Genes
1	Candidiasis, Familial, 6 ²⁹	IL17F
2	Candidiasis, Familial, 6, Autosomal Dominant ²⁹

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Anatomical Context for Candidiasis, Familial, 6

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Publications for Candidiasis, Familial, 6

Articles related to Candidiasis, Familial, 6:

(show all 32)

#	Title	Authors	PMID	Year
1	Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. ⁶ ⁵⁷	Puel A...Casanova JL	21350122	2011
2	An Adult Fatal Case with a STAT1 Gain-of-function Mutation Associated with Multiple Autoimmune Diseases. ⁶	Maeshima K...Shibata H	30442829	2019
3	Novel STAT1 Gain-of-Function Mutation Presenting as Combined Immunodeficiency. ⁶	Hartono SP...Forbes LR	30317461	2018
4	Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations. ⁶	Vargas-Hernandez A...Forbes LR	29111217	2018
5	Rosacea and demodicidosis associated with gain-of-function mutation in STAT1. ⁶	Second J...Lipsker D	28622416	2017
6	Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants. ⁶	Kagawa R...Kobayashi M	28011069	2017
7	A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis. ⁶	Eslami N...Nabavi M	28597685	2017
8	Molecular mechanism and structural basis of gain-of-function of STAT1 caused by pathogenic R274Q mutation. ⁶	Fujiki R...Ohara O	28258222	2017
9	New and recurrent STAT1 mutations in seven Chinese patients with chronic mucocutaneous candidiasis. ⁶	Wang X...Li R	27808400	2017
10	Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. ⁶	Stray-Pedersen A...Lupski JR	27577878	2017
11	Severe Early-Onset Combined Immunodeficiency due to Heterozygous Gain-of-Function Mutations in STAT1. ⁶	Baris S...Barlan IB	27379765	2016
12	Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. ⁶	Toubiana J...International STAT1 Gain-of-Function Study Group	27114460	2016
13	Progressive Multifocal Leukoencephalopathy in Primary Immune Deficiencies: Stat1 Gain of Function and Review of the Literature. ⁶	Zerbe CS...Holland SM	26743090	2016
14	Extrapulmonary tuberculosis mimicking Mendelian susceptibility to mycobacterial disease in a patient with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation. ⁶	Kataoka S...Kojima S	26242301	2016
15	The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1. ⁶	Depner M...Grimbacher B	26604104	2016
16	A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis. ⁶	Nielsen J...Mogensen TH	26494717	2015
17	Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC). ⁶	Zheng J...Lilic D	26255980	2015
18	Orf Infection in a Patient with Stat1 Gain-of-Function. ⁶	Kilic SS...Casanova JL	25367169	2015
19	Gain-of-function mutations in signal transducer and activator of transcription 1 (STAT1): chronic mucocutaneous candidiasis accompanied by enamel defects and delayed dental shedding. ⁶	Frans G...Meyts I	25042743	2014
20	Clinical exome sequencing for genetic identification of rare Mendelian disorders. ⁶	Lee H...Nelson SF	25326637	2014
21	Two novel gain-of-function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: impaired production of IL-17A and IL-22, and the presence of anti-IL-17F autoantibody. ⁶	Yamazaki Y...Ariga T	25288569	2014
22	Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis. ⁶	Mizoguchi Y...Kobayashi M	24343863	2014
23	Fatal combined immunodeficiency associated with heterozygous mutation in STAT1. ⁶	Sharfe N...Roifman CM	24239102	2014
24	Penicillium marneffei infection and impaired IFN-γ immunity in humans with autosomal-dominant gain-of-phosphorylation STAT1 mutations. ⁶	Lee PP...Lau YL	24188975	2014
25	New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe. ⁶	Soltesz B...Marodi L	23709754	2013
26	Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis. ⁶	Sampaio EP...Holland SM	23541320	2013
27	Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome. ⁶	Uzel G...Holland SM	23534974	2013
28	Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism. ⁶	Hori T...Kondo N	22847544	2012
29	Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain. ⁶	Takezaki S...Ariga T	22730530	2012
30	Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. ⁶	Liu L...Casanova JL	21727188	2011
31	STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. ⁶	van de Veerdonk FL...Netea MG	21714643	2011
32	STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis. ⁶	Smeekens SP...Netea MG	22195034	2011

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Genes for Candidiasis, Familial, 6

Genes related to Candidiasis, Familial, 6 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	IL17F	Interleukin 17F	Protein Coding	1368.52	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders Variants (show sections)	21350122
2	STAT1	Signal Transducer And Activator Of Transcription 1	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶	26604104 28258222 22847544 (more) 25367169 21714643 21727188 26242301 23541320 22730530 23709754 26743090 25042743 24239102 27379765 23534974 28597685 25326637 22195034 26255980 26494717 24343863 29111217 27114460 27577878 30317461 25288569 28011069 28622416 30442829 27808400 24188975
3	IL21R	Interleukin 21 Receptor	Protein Coding	25	Likely pathogenic ⁶

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Variations for Candidiasis, Familial, 6

ClinVar genetic disease variations for Candidiasis, Familial, 6:

⁶ (show top 50) (show all 175)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	STAT1	NM_007315.3(STAT1):c.857A>T (p.Lys286Ile)	SNV	Pathogenic	30086	rs387906761	GRCh37: 2:191859874-191859874 GRCh38: 2:190995148-190995148
2	STAT1	NM_007315.3(STAT1):c.604A>G (p.Met202Val)	SNV	Pathogenic	30087	rs387906762	GRCh37: 2:191862972-191862972 GRCh38: 2:190998246-190998246
3	STAT1	NM_007315.3(STAT1):c.494A>G (p.Asp165Gly)	SNV	Pathogenic	30089	rs387906764	GRCh37: 2:191864399-191864399 GRCh38: 2:190999673-190999673
4	STAT1	NM_007315.3(STAT1):c.862A>G (p.Thr288Ala)	SNV	Pathogenic	30090	rs387906765	GRCh37: 2:191859869-191859869 GRCh38: 2:190995143-190995143
5	STAT1	NM_007315.3(STAT1):c.508T>A (p.Tyr170Asn)	SNV	Pathogenic	30091	rs387906766	GRCh37: 2:191864385-191864385 GRCh38: 2:190999659-190999659
6	STAT1	NM_007315.3(STAT1):c.493G>C (p.Asp165His)	SNV	Pathogenic	30092	rs387906767	GRCh37: 2:191864400-191864400 GRCh38: 2:190999674-190999674
7	STAT1	NM_007315.3(STAT1):c.606G>A (p.Met202Ile)	SNV	Pathogenic	30093	rs1559019204	GRCh37: 2:191862970-191862970 GRCh38: 2:190998244-190998244
8	STAT1	NM_007315.3(STAT1):c.812A>C (p.Gln271Pro)	SNV	Pathogenic	30094	rs387906768	GRCh37: 2:191859919-191859919 GRCh38: 2:190995193-190995193
9	STAT1	NM_007315.3(STAT1):c.537C>A (p.Asn179Lys)	SNV	Pathogenic	144004	rs587777628	GRCh37: 2:191864356-191864356 GRCh38: 2:190999630-190999630
10	STAT1	NM_007315.3(STAT1):c.854A>G (p.Gln285Arg)	SNV	Pathogenic	144005	rs587777629	GRCh37: 2:191859877-191859877 GRCh38: 2:190995151-190995151
11	STAT1	NM_139266.2(STAT1):c.832A>G (p.Lys278Glu)	SNV	Pathogenic	208141	rs863223398	GRCh37: 2:191859899-191859899 GRCh38: 2:190995173-190995173
12	STAT1	NM_007315.3(STAT1):c.1151G>A (p.Gly384Asp)	SNV	Pathogenic	208142	rs796065052	GRCh37: 2:191851650-191851650 GRCh38: 2:190986924-190986924
13	STAT1	NM_007315.4(STAT1):c.1165G>C (p.Val389Leu)	SNV	Pathogenic	804296	rs1574648928	GRCh37: 2:191851636-191851636 GRCh38: 2:190986910-190986910
14	STAT1	NM_007315.3(STAT1):c.820C>T (p.Arg274Trp)	SNV	Pathogenic	30083	rs387906758	GRCh37: 2:191859911-191859911 GRCh38: 2:190995185-190995185
15	STAT1	NM_007315.3(STAT1):c.800C>T (p.Ala267Val)	SNV	Pathogenic	30084	rs387906759	GRCh37: 2:191859931-191859931 GRCh38: 2:190995205-190995205
16	STAT1	NM_007315.3(STAT1):c.821G>A (p.Arg274Gln)	SNV	Pathogenic	30085	rs387906760	GRCh37: 2:191859910-191859910 GRCh38: 2:190995184-190995184
17	IL17F	NM_052872.4(IL17F):c.284C>T (p.Ser95Leu)	SNV	Pathogenic	30589	rs748486078	GRCh37: 6:52101937-52101937 GRCh38: 6:52237139-52237139
18	STAT1	NM_007315.3(STAT1):c.1154C>T (p.Thr385Met)	SNV	Pathogenic	144006	rs587777630	GRCh37: 2:191851647-191851647 GRCh38: 2:190986921-190986921
19	STAT1	NM_007315.3(STAT1):c.820C>G (p.Arg274Gly)	SNV	Pathogenic	160354	rs387906758	GRCh37: 2:191859911-191859911 GRCh38: 2:190995185-190995185
20	STAT1	NM_007315.3(STAT1):c.520T>C (p.Cys174Arg)	SNV	Pathogenic	30088	rs387906763	GRCh37: 2:191864373-191864373 GRCh38: 2:190999647-190999647
21	STAT1	NM_007315.3(STAT1):c.866A>G (p.Tyr289Cys)	SNV	Pathogenic	541825	rs1553496850	GRCh37: 2:191859865-191859865 GRCh38: 2:190995139-190995139
22	STAT1	NM_007315.3(STAT1):c.800C>T (p.Ala267Val)	SNV	Pathogenic	30084	rs387906759	GRCh37: 2:191859931-191859931 GRCh38: 2:190995205-190995205
23	STAT1	NM_007315.3(STAT1):c.820C>T (p.Arg274Trp)	SNV	Pathogenic	30083	rs387906758	GRCh37: 2:191859911-191859911 GRCh38: 2:190995185-190995185
24	STAT1	NM_007315.3(STAT1):c.1154C>T (p.Thr385Met)	SNV	Pathogenic	144006	rs587777630	GRCh37: 2:191851647-191851647 GRCh38: 2:190986921-190986921
25	STAT1	NM_007315.3(STAT1):c.821G>A (p.Arg274Gln)	SNV	Pathogenic	30085	rs387906760	GRCh37: 2:191859910-191859910 GRCh38: 2:190995184-190995184
26	STAT1	NM_007315.4(STAT1):c.1011_1012del (p.Val339fs)	Deletion	Pathogenic	961842		GRCh37: 2:191855979-191855980 GRCh38: 2:190991253-190991254
27	STAT1	NM_007315.3(STAT1):c.970T>C (p.Cys324Arg)	SNV	Likely pathogenic	643417	rs1574653439	GRCh37: 2:191856021-191856021 GRCh38: 2:190991295-190991295
28	STAT1	NM_007315.4(STAT1):c.1166T>G (p.Val389Gly)	SNV	Likely pathogenic	860546		GRCh37: 2:191851635-191851635 GRCh38: 2:190986909-190986909
29	STAT1	NM_007315.4(STAT1):c.856A>C (p.Lys286Gln)	SNV	Likely pathogenic	848283		GRCh37: 2:191859875-191859875 GRCh38: 2:190995149-190995149
30	STAT1	NM_007315.4(STAT1):c.863C>T (p.Thr288Ile)	SNV	Likely pathogenic	848760		GRCh37: 2:191859868-191859868 GRCh38: 2:190995142-190995142
31	STAT1	NM_007315.4(STAT1):c.851A>G (p.Glu284Gly)	SNV	Likely pathogenic	965491		GRCh37: 2:191859880-191859880 GRCh38: 2:190995154-190995154
32	STAT1	NM_007315.3(STAT1):c.1162A>C (p.Lys388Gln)	SNV	Likely pathogenic	578600	rs1559011859	GRCh37: 2:191851639-191851639 GRCh38: 2:190986913-190986913
33	STAT1	NM_007315.3(STAT1):c.820C>G (p.Arg274Gly)	SNV	Likely pathogenic	160354	rs387906758	GRCh37: 2:191859911-191859911 GRCh38: 2:190995185-190995185
34	STAT1	NM_007315.3(STAT1):c.876C>A (p.Asp292Glu)	SNV	Likely pathogenic	426484	rs1085307649	GRCh37: 2:191859855-191859855 GRCh38: 2:190995129-190995129
35	STAT1	NM_007315.4(STAT1):c.1310C>T (p.Thr437Ile)	SNV	Likely pathogenic	852805		GRCh37: 2:191849073-191849073 GRCh38: 2:190984347-190984347
36	STAT1	NM_007315.3(STAT1):c.970T>C (p.Cys324Arg)	SNV	Likely pathogenic	643417	rs1574653439	GRCh37: 2:191856021-191856021 GRCh38: 2:190991295-190991295
37	IL21R	NM_181078.3(IL21R):c.563del (p.Leu188fs)	Deletion	Likely pathogenic	976232		GRCh37: 16:27455918-27455918 GRCh38: 16:27444597-27444597
38	IL17F	NM_052872.4(IL17F):c.254+1G>T	SNV	Conflicting interpretations of pathogenicity	225391	rs117796773	GRCh37: 6:52103527-52103527 GRCh38: 6:52238729-52238729
39	IL17F	NM_052872.4(IL17F):c.411_412CT[1] (p.Ser138fs)	Microsatellite	Conflicting interpretations of pathogenicity	539173	rs11465552	GRCh37: 6:52101807-52101808 GRCh38: 6:52237009-52237010
40	STAT1	NM_007315.3(STAT1):c.1222-5T>C	SNV	Conflicting interpretations of pathogenicity	252674	rs191364028	GRCh37: 2:191850391-191850391 GRCh38: 2:190985665-190985665
41	IL17F	NM_052872.4(IL17F):c.254+1G>A	SNV	Conflicting interpretations of pathogenicity	911491		GRCh37: 6:52103527-52103527 GRCh38: 6:52238729-52238729
42	STAT1	NM_007315.4(STAT1):c.389T>C (p.Ile130Thr)	SNV	Uncertain significance	937753		GRCh37: 2:191865873-191865873 GRCh38: 2:191001147-191001147
43	STAT1	NM_007315.3(STAT1):c.1090T>C (p.Phe364Leu)	SNV	Uncertain significance	333283	rs759722579	GRCh37: 2:191854348-191854348 GRCh38: 2:190989622-190989622
44	IL17F	NM_052872.4(IL17F):c.199C>A (p.Arg67Ser)	SNV	Uncertain significance	943201		GRCh37: 6:52103583-52103583 GRCh38: 6:52238785-52238785
45	STAT1	NM_007315.4(STAT1):c.955G>A (p.Val319Met)	SNV	Uncertain significance	944892		GRCh37: 2:191856036-191856036 GRCh38: 2:190991310-190991310
46	IL17F	NM_052872.4(IL17F):c.428T>G (p.Leu143Trp)	SNV	Uncertain significance	945052		GRCh37: 6:52101793-52101793 GRCh38: 6:52236995-52236995
47	IL17F	NM_052872.4(IL17F):c.233C>A (p.Ser78Tyr)	SNV	Uncertain significance	946538		GRCh37: 6:52103549-52103549 GRCh38: 6:52238751-52238751
48	STAT1	NM_007315.4(STAT1):c.1856G>A (p.Arg619Gln)	SNV	Uncertain significance	946599		GRCh37: 2:191843599-191843599 GRCh38: 2:190978873-190978873
49	IL17F	NM_052872.4(IL17F):c.215G>A (p.Arg72His)	SNV	Uncertain significance	948947		GRCh37: 6:52103567-52103567 GRCh38: 6:52238769-52238769
50	STAT1	NM_007315.4(STAT1):c.1591G>A (p.Ala531Thr)	SNV	Uncertain significance	951668		GRCh37: 2:191845387-191845387 GRCh38: 2:190980661-190980661

UniProtKB/Swiss-Prot genetic disease variations for Candidiasis, Familial, 6:

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	IL17F	p.Ser95Leu	VAR_065813	rs748486078

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Expression for Candidiasis, Familial, 6

Search GEO for disease gene expression data for Candidiasis, Familial, 6.

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Pathways for Candidiasis, Familial, 6

Pathways related to Candidiasis, Familial, 6 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	IL-9 Signaling Pathways ⁶⁴ Show member pathways Adipokines and Insulin Signaling Pathways ⁶⁴ Common Cytokine Receptor Gamma-Chain Family Signaling Pathways ⁶⁴ Development Thrombopoietin-regulated cell processes ²³ IL-15 Signaling Pathways ⁶⁴ IL-2 Signaling Pathways ⁶⁴ IL-21 Signaling Pathways ⁶⁴ IL-4 Signaling Pathways ⁶⁴ IL-7 Signaling Pathways ⁶⁴ IL-9 Pathway ⁶³ Immune response IL-9 signaling pathway ²³	12.11	STAT1 IL21R
2	Immune response IL-23 signaling pathway ²³ Show member pathways Angiopoietin receptor Tie2-mediated signaling ¹ Angiopoietin-TIE2 Signaling ⁶³ Development Angiopoietin - Tie2 signaling ²³ Development PDGF signaling via STATs and NF-kB ²³ IL23-mediated signaling events ¹ Immune response IL-10 signaling pathway ²³ Rac1/Pak1/p38/MMP-2 pathway ¹	11.94	STAT1 IL17F
3	JAK-STAT signaling pathway ³⁶ Show member pathways B-Cell Development ⁶³ IL-7 Signaling Pathways and their Primary Biological Effects in Different Immune Cell Types ⁶⁴ Interleukin-19, 20, 22, 24 ⁶⁵ Jak/STAT Signaling Pathway ⁶⁴ Type III interferon signaling ¹	11.77	STAT1 IL21R
4	Th17 cell differentiation ³⁶ Show member pathways IL-22 Pathway ⁶³ Immune response IL-22 signaling pathway ²³ Inflammatory bowel disease ³⁶ Th1 and Th2 cell differentiation ³⁶	11.67	STAT1 IL21R IL17F
5	Interleukin-4 and 13 signaling ⁶⁵	11.38	STAT1 IL17F
6	Cytokine production by Th17 cells in CF (Mouse model) ²³ Show member pathways Cytokine production by Th17 cells in CF ²³	11.23	IL21R IL17F
7	Commom Cytokine Receptor G Chain Siganaling Pathway ⁶⁶	11.01	STAT1 IL21R
8	Th17 Differentiation Pathway ⁶⁴ Show member pathways IL-21 Signaling Pathways and their Primary Biological Effects in Different Immune Cell Types ⁶⁴	10.76	STAT1 IL21R IL17F

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GO Terms for Candidiasis, Familial, 6

Biological processes related to Candidiasis, Familial, 6 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cytokine-mediated signaling pathway	GO:0019221	9.16	STAT1 IL17F
2	negative regulation of angiogenesis	GO:0016525	8.96	STAT1 IL17F
3	interleukin-21-mediated signaling pathway	GO:0038114	8.62	STAT1 IL21R

Sources

Sources for Candidiasis, Familial, 6

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Candidiasis, Familial, 6 (CANDF6)

Aliases & Classifications for Candidiasis, Familial, 6

MalaCards integrated aliases for Candidiasis, Familial, 6:

Characteristics:

HPO:

Classifications:

External Ids:

Summaries for Candidiasis, Familial, 6

Related Diseases for Candidiasis, Familial, 6

Diseases in the Candidiasis family:

Diseases related to Candidiasis, Familial, 6 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Candidiasis, Familial, 6:

Symptoms & Phenotypes for Candidiasis, Familial, 6

Human phenotypes related to Candidiasis, Familial, 6:

Clinical features from OMIM®:

Drugs & Therapeutics for Candidiasis, Familial, 6

Genetic Tests for Candidiasis, Familial, 6

Genetic tests related to Candidiasis, Familial, 6:

Anatomical Context for Candidiasis, Familial, 6

Publications for Candidiasis, Familial, 6

Articles related to Candidiasis, Familial, 6:

Genes for Candidiasis, Familial, 6

Genes related to Candidiasis, Familial, 6 (2 elite genes):

Variations for Candidiasis, Familial, 6

ClinVar genetic disease variations for Candidiasis, Familial, 6:

UniProtKB/Swiss-Prot genetic disease variations for Candidiasis, Familial, 6:

Expression for Candidiasis, Familial, 6

Pathways for Candidiasis, Familial, 6

Pathways related to Candidiasis, Familial, 6 according to GeneCards Suite gene sharing:

GO Terms for Candidiasis, Familial, 6

Biological processes related to Candidiasis, Familial, 6 according to GeneCards Suite gene sharing:

Sources for Candidiasis, Familial, 6