Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2312
Gene name Gene Name - the full gene name approved by the HGNC.	Filaggrin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	FLG
Synonyms (NCBI Gene) Gene synonyms aliases	ATOD2, FLG-1, FLG1
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1q21.3
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin u

Show/Hide all(65)

SNP ID	Visualize variation	Clinical significance	Consequence
rs3120649	G>A,C,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs121909626	G>C,T	Pathogenic, risk-factor	Stop gained, coding sequence variant
rs138726443	G>A,C,T	Pathogenic	Stop gained, missense variant, synonymous variant, coding sequence variant
rs140980397	G>A,C,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs141784184	G>A,T	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs146466242	T>A,C	Likely-pathogenic, uncertain-significance	Stop gained, missense variant, coding sequence variant
rs146686141	G>A,C,T	Pathogenic	Stop gained, missense variant, coding sequence variant, synonymous variant
rs147145234	G>T	Pathogenic	Stop gained, coding sequence variant
rs148606936	G>A,C,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs149105551	G>A,C,T	Pathogenic	Stop gained, missense variant, coding sequence variant, synonymous variant
rs149484917	G>C,T	Pathogenic	Stop gained, coding sequence variant
rs150597413	G>A,C,T	Likely-pathogenic, pathogenic	Stop gained, missense variant, coding sequence variant
rs180768115	G>C,T	Likely-pathogenic	Stop gained, coding sequence variant
rs199895224	C>A,G	Pathogenic	Stop gained, missense variant, coding sequence variant
rs200002200	G>A	Pathogenic	Stop gained, coding sequence variant
rs201356558	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs372754256	G>C	Pathogenic	Coding sequence variant, stop gained
rs374588791	C>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs397507563	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs528722713	G>A	Pathogenic	Coding sequence variant, stop gained
rs528961889	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs535289422	G>A,C	Pathogenic	Missense variant, stop gained, coding sequence variant
rs542799026	G>C	Pathogenic	Coding sequence variant, stop gained
rs546871592	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs564628353	G>A	Pathogenic	Coding sequence variant, stop gained
rs567795279	T>A	Pathogenic	Coding sequence variant, stop gained
rs573388805	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs578184315	GGATGATG>-	Pathogenic	Stop gained, coding sequence variant
rs747301529	C>A	Pathogenic	Stop gained, coding sequence variant
rs748135905	C>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs749083759	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant
rs754328064	G>A	Pathogenic	Coding sequence variant, stop gained
rs754727774	G>A,C,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained, missense variant
rs754812742	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs755823797	GACT>-	Pathogenic	Frameshift variant, coding sequence variant
rs756998312	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs757726987	T>A	Pathogenic	Coding sequence variant, stop gained
rs760831749	GT>-	Pathogenic	Frameshift variant, coding sequence variant
rs761212672	G>T	Pathogenic	Coding sequence variant, stop gained
rs761519693	GACT>-	Pathogenic	Frameshift variant, coding sequence variant
rs764094665	T>A	Pathogenic	Stop gained, coding sequence variant
rs769826402	TCTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs771027814	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs774129089	G>C	Pathogenic	Coding sequence variant, stop gained
rs774362740	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs775716153	->TGAGT	Pathogenic	Coding sequence variant, frameshift variant
rs777848510	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs778545248	C>A,G	Pathogenic	Coding sequence variant, stop gained, missense variant
rs781161516	->G	Pathogenic	Coding sequence variant, frameshift variant
rs972579811	G>A	Pathogenic	Coding sequence variant, stop gained
rs1057517973	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057518212	G>C,T	Pathogenic	Stop gained, coding sequence variant
rs1064793675	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064795983	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064796105	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1203718709	G>C	Pathogenic	Stop gained, coding sequence variant
rs1246063885	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1370544496	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1388479165	G>C,T	Pathogenic	Stop gained, coding sequence variant
rs1423603720	G>A	Pathogenic	Stop gained, coding sequence variant
rs1425411066	G>C,T	Pathogenic	Stop gained, coding sequence variant
rs1553211362	G>A	Pathogenic	Coding sequence variant, stop gained
rs1553213136	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1570893617	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1570897758	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(10)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022464	hsa-miR-124-3p	Microarray	18668037
MIRT2229918	hsa-miR-122	CLIP-seq
MIRT2229919	hsa-miR-2110	CLIP-seq
MIRT2229920	hsa-miR-3150a-3p	CLIP-seq
MIRT2229921	hsa-miR-3175	CLIP-seq
MIRT2229922	hsa-miR-4260	CLIP-seq
MIRT2229923	hsa-miR-4659a-3p	CLIP-seq
MIRT2229924	hsa-miR-4659b-3p	CLIP-seq
MIRT2229925	hsa-miR-4775	CLIP-seq
MIRT2229926	hsa-miR-939	CLIP-seq

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
HOPX	Activation	21256618

Show/Hide all(18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	IBA
GO:0001533	Component	Cornified envelope	IDA	7543090
GO:0005198	Function	Structural molecule activity	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	23629652
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005829	Component	Cytosol	TAS
GO:0018149	Process	Peptide cross-linking	IDA	7543090
GO:0030216	Process	Keratinocyte differentiation	TAS	17704059
GO:0030280	Function	Structural constituent of skin epidermis	IDA	7543090
GO:0031012	Component	Extracellular matrix	HDA	28344315
GO:0036457	Component	Keratohyalin granule	IBA
GO:0036457	Component	Keratohyalin granule	IDA	1429717, 12850301
GO:0036464	Component	Cytoplasmic ribonucleoprotein granule	IDA
GO:0046872	Function	Metal ion binding	IEA
GO:0046914	Function	Transition metal ion binding	IEA
GO:0061436	Process	Establishment of skin barrier	IBA
GO:0061436	Process	Establishment of skin barrier	IEP	23403047

MIM	HGNC	e!Ensembl
135940	3748	ENSG00000143631

Protein

UniProt ID

P20930

Protein name

Filaggrin

Protein function

Aggregates keratin intermediate filaments and promotes disulfide-bond formation among the intermediate filaments during terminal differentiation of mammalian epidermis.

PDB

4PCW

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01023	S_100	4 → 46	S-100/ICaBP type calcium binding domain	Domain
PF03516	Filaggrin	257 → 306	Filaggrin	Repeat
PF03516	Filaggrin	373 → 428	Filaggrin	Repeat
PF03516	Filaggrin	574 → 630	Filaggrin	Repeat
PF03516	Filaggrin	697 → 753	Filaggrin	Repeat
PF03516	Filaggrin	899 → 955	Filaggrin	Repeat
PF03516	Filaggrin	1022 → 1077	Filaggrin	Repeat
PF03516	Filaggrin	1223 → 1279	Filaggrin	Repeat
PF03516	Filaggrin	1346 → 1401	Filaggrin	Repeat
PF03516	Filaggrin	1547 → 1603	Filaggrin	Repeat
PF03516	Filaggrin	1670 → 1725	Filaggrin	Repeat
PF03516	Filaggrin	1871 → 1927	Filaggrin	Repeat
PF03516	Filaggrin	1994 → 2050	Filaggrin	Repeat
PF03516	Filaggrin	2196 → 2252	Filaggrin	Repeat
PF03516	Filaggrin	2319 → 2374	Filaggrin	Repeat
PF03516	Filaggrin	2520 → 2576	Filaggrin	Repeat
PF03516	Filaggrin	2643 → 2698	Filaggrin	Repeat
PF03516	Filaggrin	2844 → 2900	Filaggrin	Repeat
PF03516	Filaggrin	2967 → 3022	Filaggrin	Repeat
PF03516	Filaggrin	3168 → 3224	Filaggrin	Repeat
PF03516	Filaggrin	3291 → 3346	Filaggrin	Repeat
PF03516	Filaggrin	3492 → 3548	Filaggrin	Repeat
PF03516	Filaggrin	3615 → 3670	Filaggrin	Repeat
PF03516	Filaggrin	3816 → 3872	Filaggrin	Repeat

Tissue specificity

TISSUE SPECIFICITY: Expressed in skin, thymus, stomach, tonsils, testis, placenta, kidney, pancreas, mammary gland, bladder, thyroid, salivary gland and trachea, but not detected in heart, brain, liver, lung, bone marrow, small intestine, spleen, prostate

Sequence

MSTLLENIFAIINLFKQYSKKDKNTDTLSKKELKELLEKEFRQILKNPDDPDMVDVFMDH
LDIDHNKKIDFTEFLLMVFKLAQAYYESTRKENLPISGHKHRKHSHHDKHEDNKQEENKE
NRKRPSSLERRNNRKGNKGRSKSPRETGGKRHESSSEKKERKGYSPTHREEEYGKNHHNS
SKKEKNKTENTRLGDNRKRLSERLEEKEDNEEGVYDYENTGRMTQKWIQSGHIATYYTIQ
DEAYDTTDSLLEENKIYERSRSSDGKSSSQVNRSRHENTSQVPLQESRTRKRRGSRVSQD
RDSEGHSEDSERHSGSASRNHHGSAWEQSRDGSRHPRSHDEDRASHGHSADSSRQSGTRH
AETSSRGQTASSHEQARSSPGERHGSGHQQSADSSRHSATGRGQASSAVSDRGHRGSSGS
QASDSEGHSENSDTQSVSGHGKAGLRQQSHQESTRGRSGERSGRSGSSLYQVSTHEQPDS
AHGRTGTSTGGRQGSHHEQARDSSRHSASQEGQDTIRGHPGSSRGGRQGSHHEQSVNRSG
HSGSHHSHTTSQGRSDASHGQSGSRSASRQTRNEEQSGDGTRHSGSRHHEASSQADSSRH
SQVGQGQSSGPRTSRNQGSSVSQDSDSQGHSEDSERWSGSASRNHHGSAQEQSRDGSRHP
RSHHEDRAGHGHSADSSRKSGTRHTQNSSSGQAASSHEQARSSAGERHGSRHQLQSADSS
RHSGTGHGQASSAVRDSGHRGSSGSQATDSEGHSEDSDTQSVSGHGQAGHHQQSHQESAR
DRSGERSRRSGSFLYQVSTHKQSESSHGWTGPSTGVRQGSHHEQARDNSRHSASQDGQDT
IRGHPGSSRRGRQGSHHEQSVDRSGHSGSHHSHTTSQGRSDASRGQSGSRSASRTTRNEE
QSRDGSRHSGSRHHEASSHADISRHSQAGQGQSEGSRTSRRQGSSVSQDSDSEGHSEDSE
RWSGSASRNHRGSAQEQSRHGSRHPRSHHEDRAGHGHSADSSRQSGTPHAETSSGGQAAS
SHEQARSSPGERHGSRHQQSADSSRHSGIPRRQASSAVRDSGHWGSSGSQASDSEGHSEE
SDTQSVSGHGQDGPHQQSHQESARDWSGGRSGRSGSFIYQVSTHEQSESAHGRTRTSTGR
RQGSHHEQARDSSRHSASQEGQDTIRAHPGSRRGGRQGSHHEQSVDRSGHSGSHHSHTTS
QGRSDASHGQSGSRSASRQTRKDKQSGDGSRHSGSRHHEAASWADSSRHSQVGQEQSSGS
RTSRHQGSSVSQDSDSERHSDDSERLSGSASRNHHGSSREQSRDGSRHPGFHQEDRASHG
HSADSSRQSGTHHTESSSHGQAVSSHEQARSSPGERHGSRHQQSADSSRHSGIGHRQASS
AVRDSGHRGSSGSQVTNSEGHSEDSDTQSVSAHGQAGPHQQSHKESARGQSGESSGRSRS
FLYQVSSHEQSESTHGQTAPSTGGRQGSRHEQARNSSRHSASQDGQDTIRGHPGSSRGGR
QGSYHEQSVDRSGHSGYHHSHTTPQGRSDASHGQSGPRSASRQTRNEEQSGDGSRHSGSR
HHEPSTRAGSSRHSQVGQGESAGSKTSRRQGSSVSQDRDSEGHSEDSERRSESASRNHYG
SAREQSRHGSRNPRSHQEDRASHGHSAESSRQSGTRHAETSSGGQAASSQEQARSSPGER
HGSRHQQSADSSTDSGTGRRQDSSVVGDSGNRGSSGSQASDSEGHSEESDTQSVSAHGQA
GPHQQSHQESTRGQSGERSGRSGSFLYQVSTHEQSESAHGRTGPSTGGRQRSRHEQARDS
SRHSASQEGQDTIRGHPGSSRGGRQGSHYEQSVDSSGHSGSHHSHTTSQERSDVSRGQSG
SRSVSRQTRNEKQSGDGSRHSGSRHHEASSRADSSRHSQVGQGQSSGPRTSRNQGSSVSQ
DSDSQGHSEDSERWSGSASRNHLGSAWEQSRDGSRHPGSHHEDRAGHGHSADSSRQSGTR
HTESSSRGQAASSHEQARSSAGERHGSHHQLQSADSSRHSGIGHGQASSAVRDSGHRGYS
GSQASDSEGHSEDSDTQSVSAQGKAGPHQQSHKESARGQSGESSGRSGSFLYQVSTHEQS
ESTHGQSAPSTGGRQGSHYDQAQDSSRHSASQEGQDTIRGHPGPSRGGRQGSHQEQSVDR
SGHSGSHHSHTTSQGRSDASRGQSGSRSASRKTYDKEQSGDGSRHSGSHHHEASSWADSS
RHSLVGQGQSSGPRTSRPRGSSVSQDSDSEGHSEDSERRSGSASRNHHGSAQEQSRDGSR
HPRSHHEDRAGHGHSAESSRQSGTHHAENSSGGQAASSHEQARSSAGERHGSHHQQSADS
SRHSGIGHGQASSAVRDSGHRGSSGSQASDSEGHSEDSDTQSVSAHGQAGPHQQSHQEST
RGRSAGRSGRSGSFLYQVSTHEQSESAHGRTGTSTGGRQGSHHKQARDSSRHSTSQEGQD
TIHGHPGSSSGGRQGSHYEQLVDRSGHSGSHHSHTTSQGRSDASHGHSGSRSASRQTRND
EQSGDGSRHSGSRHHEASSRADSSGHSQVGQGQSEGPRTSRNWGSSFSQDSDSQGHSEDS
ERWSGSASRNHHGSAQEQLRDGSRHPRSHQEDRAGHGHSADSSRQSGTRHTQTSSGGQAA
SSHEQARSSAGERHGSHHQQSADSSRHSGIGHGQASSAVRDSGHRGYSGSQASDNEGHSE
DSDTQSVSAHGQAGSHQQSHQESARGRSGETSGHSGSFLYQVSTHEQSESSHGWTGPSTR
GRQGSRHEQAQDSSRHSASQDGQDTIRGHPGSSRGGRQGYHHEHSVDSSGHSGSHHSHTT
SQGRSDASRGQSGSRSASRTTRNEEQSGDGSRHSGSRHHEASTHADISRHSQAVQGQSEG
SRRSRRQGSSVSQDSDSEGHSEDSERWSGSASRNHHGSAQEQLRDGSRHPRSHQEDRAGH
GHSADSSRQSGTRHTQTSSGGQAASSHEQARSSAGERHGSHHQQSADSSRHSGIGHGQAS
SAVRDSGHRGYSGSQASDNEGHSEDSDTQSVSAHGQAGSHQQSHQESARGRSGETSGHSG
SFLYQVSTHEQSESSHGWTGPSTRGRQGSRHEQAQDSSRHSASQYGQDTIRGHPGSSRGG
RQGYHHEHSVDSSGHSGSHHSHTTSQGRSDASRGQSGSRSASRTTRNEEQSGDSSRHSVS
RHHEASTHADISRHSQAVQGQSEGSRRSRRQGSSVSQDSDSEGHSEDSERWSGSASRNHR
GSVQEQSRHGSRHPRSHHEDRAGHGHSADRSRQSGTRHAETSSGGQAASSHEQARSSPGE
RHGSRHQQSADSSRHSGIPRGQASSAVRDSRHWGSSGSQASDSEGHSEESDTQSVSGHGQ
AGPHQQSHQESARDRSGGRSGRSGSFLYQVSTHEQSESAHGRTRTSTGRRQGSHHEQARD
SSRHSASQEGQDTIRGHPGSSRRGRQGSHYEQSVDRSGHSGSHHSHTTSQGRSDASRGQS
GSRSASRQTRNDEQSGDGSRHSWSHHHEASTQADSSRHSQSGQGQSAGPRTSRNQGSSVS
QDSDSQGHSEDSERWSGSASRNHRGSAQEQSRDGSRHPTSHHEDRAGHGHSAESSRQSGT
HHAENSSGGQAASSHEQARSSAGERHGSHHQQSADSSRHSGIGHGQASSAVRDSGHRGSS
GSQASDSEGHSEDSDTQSVSAHGQAGPHQQSHQESTRGRSAGRSGRSGSFLYQVSTHEQS
ESAHGRAGPSTGGRQGSRHEQARDSSRHSASQEGQDTIRGHPGSRRGGRQGSYHEQSVDR
SGHSGSHHSHTTSQGRSDASHGQSGSRSASRETRNEEQSGDGSRHSGSRHHEASTQADSS
RHSQSGQGESAGSRRSRRQGSSVSQDSDSEAYPEDSERRSESASRNHHGSSREQSRDGSR
HPGSSHRDTASHVQSSPVQSDSSTAKEHGHFSSLSQDSAYHSGIQSRGSPHSSSSYHYQS
EGTERQKGQSGLVWRHGSYGSADYDYGESGFRHSQHGSVSYNSNPVVFKERSDICKASAF
GKDHPRYYATYINKDPGLCGHSSDISKQLGFSQSQRYYYYE

Sequence length

4061

Interactions

View interactions

	Reactome
			Formation of the cornified envelope

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Dermatitis	dermatitis, atopic, 2	rs201356558, rs372754256, rs138726443, rs747301529, rs745915174, rs567795279, rs61816761, rs149484917, rs150597413	N/A
Ichthyosis Vulgaris	ichthyosis vulgaris, Autosomal dominant ichthyosis vulgaris	rs1570897758, rs777181377, rs146686141, rs150597413, rs769826402, rs760831749, rs528722713, rs746683647, rs397507563, rs564628353, rs374588791, rs1060499587, rs372754256, rs138726443, rs775716153 View all (28 more)	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Asthma	Asthma (moderate or severe), Asthma (age of onset), Asthma, Asthma (childhood onset), Atopic asthma	N/A	N/A	GWAS
Eczema	Eczema	N/A	N/A	GWAS
Ichthyosis, X-Linked	recessive X-linked ichthyosis	N/A	N/A	GenCC
Insomnia	Insomnia in migraine with aura	N/A	N/A	GWAS

Show/Hide Text Mining Associations (108)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Acrocephalosyndactylia	Associate	24061166
Adenocarcinoma of Lung	Associate	35354459
Alopecia Areata	Associate	17581619
Alzheimer Disease	Associate	23809981, 35627223, 37304256
Alzheimer Disease	Inhibit	32639640
Arthritis Psoriatic	Associate	9138475
Arthritis Rheumatoid	Associate	23711220
Asthma	Associate	16702964, 16990802, 17301831, 21365004, 22069270, 24708301, 25277085, 26587832, 27840886, 29068602, 29266469, 29281699, 30195067, 32536107, 33655501 View all (5 more)
Autism Spectrum Disorder	Associate	31595719
Bowen's Disease	Inhibit	2164515
Brain Injuries	Associate	23166590
Breast Neoplasms	Associate	26544852, 34888385
Bronchiolitis	Stimulate	32628310
Burnett Schwartz Berberian syndrome	Associate	18239616, 19681860, 25660180, 35616138
Carcinoma Basal Cell	Associate	1383350
Cataract and congenital ichthyosis	Associate	33807935
Cheilitis	Associate	29281699
Cholangiocarcinoma	Associate	39206584
Chronic Urticaria	Associate	24726196
Colorectal Neoplasms	Associate	33714943
Conjunctivitis Allergic	Associate	34331429
Contracture	Associate	30431579
Cytokine Release Syndrome	Associate	27793761
Dermatitis	Associate	21324289, 23166590
Dermatitis Atopic	Associate	16702964, 16810297, 16990802, 17255953, 17301831, 17410197, 17512043, 17581619, 17989887, 18176743, 18200065, 18313126, 18521703, 18923650, 19384417 View all (92 more)
Dermatitis Atopic	Inhibit	17512043, 24726196, 24940654, 27304082, 30787169, 33321923, 33453290
Dermatitis Atopic 1	Associate	17512043, 24940654, 27366014, 28892018
Dermatitis Atopic 3	Associate	21365004
Dermatitis Contact	Associate	23039796
Diabetes Mellitus Type 1	Associate	22069270
Diabetes Mellitus Type 2	Associate	24367652
Drug Hypersensitivity	Associate	22158606, 22403702, 24708301, 25277085, 25757221, 28120571, 29068602, 29266469, 29281699, 29459738, 29875205, 32536107, 34271060, 35081436, 35338739
Dry Eye Syndromes	Associate	18239616, 22158606, 28892018
Dupuytren Contracture	Associate	18239616, 19681860, 24858702
Eczema	Associate	16990802, 17299430, 18176743, 18313126, 19681860, 20109745, 22403702, 23003573, 24102300, 24708301, 25174864, 25277085, 28502108, 29068602, 29266469 View all (4 more)
Ehlers Danlos syndrome type 3	Associate	27518164
Eosinophilic Esophagitis	Associate	20208004, 23503644, 29746170
Eosinophilic Esophagitis	Inhibit	28712126
Epithelial Squamous Dysplasia Keratinizing Desquamative of Urinary Tract	Associate	18843291
Epstein Barr Virus Infections	Associate	27535066
Familial dermographism	Associate	24858702
Food Hypersensitivity	Associate	25174864, 32536107, 38564302
Food Hypersensitivity	Inhibit	30787169
Food Intolerance	Associate	24858702, 25174864
Fractures Stress	Associate	34673050
Gastroesophageal Reflux	Associate	23503644, 24924748
Glioma	Associate	34081618
Glut1 Deficiency Syndrome	Associate	32066784
Glut1 Deficiency Syndrome	Inhibit	33321923
Growth Disorders	Associate	30431579
Hand Foot Syndrome	Associate	29281699
Heart Diseases	Associate	26833520
Hypersensitivity Immediate	Associate	16702964, 17581619, 21377035, 22158606, 24367652, 24880632, 26833520
Hypertension	Associate	32315356
Hypertension Pulmonary	Associate	37730603
Ichthyosis	Associate	16810297, 27366014, 29803800, 30021537, 33807935
Ichthyosis Vulgaris	Associate	16702964, 16702965, 16810297, 17657246, 18079749, 18200065, 18239616, 18521703, 19384417, 19681860, 20445547, 21514438, 22164253, 23152869, 24130705 View all (7 more)
Ichthyosis Vulgaris	Inhibit	2437218
Ichthyosis X Linked	Associate	17657246, 27478344, 30021537
Ige Responsiveness Atopic	Associate	17170718, 18200065, 22158606, 25174864
Immunologic Deficiency Syndromes	Inhibit	28479159
Infections	Associate	36482106
Inflammation	Associate	21261659, 22164253, 28479159
Intellectual Disability	Associate	30431579
Kaposi Varicelliform Eruption	Associate	19733298
Latent Infection	Associate	31441980
Leprosy	Associate	28842327, 33047146
Leukoplakia	Associate	23645350
Lymphoma T Cell Cutaneous	Associate	32213830, 36122387
Lymphomatoid Papulosis	Associate	2164515
Melanoma	Associate	32869947
Melanoma Cutaneous Malignant	Associate	32869947, 37205232
Metabolic Diseases	Associate	32337289
Neoplasm Metastasis	Associate	34281583, 35003328, 35054979, 38492821
Neoplasms	Associate	24905740, 30399560
Neuroblastoma	Associate	36037157
Nevus Sebaceous of Jadassohn	Associate	29166506
Optic Nerve Glioma	Stimulate	8290551
Pancreatic Neoplasms	Associate	25945796
Papillomavirus Infections	Associate	24905740
Peanut Hypersensitivity	Associate	21377035, 25282568, 35108754, 36403663
Pediatric Obesity	Inhibit	36482106
Pruritus	Associate	31596431, 38272373
Pruritus	Stimulate	37762597
Psoriasis	Associate	19554025
Psoriasis	Inhibit	21346775
Pulmonary Arterial Hypertension	Associate	37730603
Pulmonary Disease Chronic Obstructive	Associate	29266469
Respiratory Sounds	Associate	30195067, 31441980, 35338739
Respiratory Sounds	Stimulate	32628310
Rheumatic Diseases	Associate	37730603
Rhinitis	Associate	24708301, 25277085, 29266469, 31441980
Rhinitis Allergic	Associate	21365004, 29266469, 29281699, 32536107, 35338739
Rhinitis Allergic Perennial	Associate	34331429
Sarcoma	Associate	9716033
Schizophrenia	Associate	34969953
Severe Acute Respiratory Syndrome	Associate	38375886
Skin Diseases	Associate	16810297, 18239616, 22936986, 24858702, 29130490, 35474514, 36692677
Skin Neoplasms	Associate	23727859, 25757221
Spinocerebellar Ataxias	Associate	30431579
Squamous Cell Carcinoma of Head and Neck	Associate	23645350
Status Asthmaticus	Associate	23993222
Stomach Neoplasms	Associate	27535066, 32034058
Teratoma	Associate	36289533
Tinea	Inhibit	17392834
Ulcer	Inhibit	18373736
Urticaria	Associate	24726196
Vitamin D Deficiency	Inhibit	38250727

FLG (filaggrin)