FLG (filaggrin)

Gene

• Entrez ID: 2312
• Gene name: Filaggrin
• Gene symbol: FLG
• Synonyms (NCBI Gene): ATOD2, FLG-1, FLG1
• Disease Acronyms (UniProt): ATOD2
• Chromosome: 1
• Chromosome location: 1q21.3
• Summary: 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

SNPs

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

miRNA

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

Transcription factor	Regulation	Reference
HOPX	Activation	21256618

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	IBA	21873635
GO:0001533	Component	Cornified envelope	IDA	7543090
GO:0005198	Function	Structural molecule activity	NAS	2740331
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:0005882	Component	Intermediate filament	NAS	2740331
GO:0007275	Process	Multicellular organism development	NAS	2740331
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:0036457	Component	Keratohyalin granule	IBA	21873635
GO:0036457	Component	Keratohyalin granule	IDA	1429717, 12850301
GO:0036464	Component	Cytoplasmic ribonucleoprotein granule	IDA
GO:0046914	Function	Transition metal ion binding	IEA
GO:0061436	Process	Establishment of skin barrier	IBA	21873635
GO:0061436	Process	Establishment of skin barrier	IEP	23403047
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	28344315
GO:0070268	Process	Cornification	TAS

Other IDs

• MIM: 135940
• HGNC: 3748
• e!Ensembl: 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

Pathways

Reactome:

Formation of the cornified envelope

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542	16444271
Dermatitis	Dermatitis, Dermatitis, Atopic, Contact Dermatitis, Dermatitis, Atopic, 2, Inflammatory dermatosis	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	31330126, 16550169, 23348739, 17030239, 19349982, 16815158, 16444271, 23042114, 24061166, 25724174
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Ichthyosis	Ichthyoses	rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs1569044747, rs200806519
Ichthyosis vulgaris	Ichthyosis Vulgaris, NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgaris	rs61816761, rs121909626, rs150597413, rs397507563, rs138726443, rs797045090, rs147145234, rs761212672, rs535289422, rs754812742, rs201356558, rs760831749, rs374588791, rs144419479, rs200002200, rs142991475, rs148606936, rs114733570, rs149484917, rs774362740, rs777181377, rs528722713, rs1060499587, rs578184315, rs140980397, rs200519781, rs749083759, rs761519693, rs183942200, rs146686141, rs746683647, rs372754256, rs1214424848, rs542799026, rs567795279, rs180768115, rs1570897758, rs769826402, rs564628353, rs775716153, rs745915174, rs1570913142, rs143418984	17030239, 17417636, 19733298, 18200065, 16550169, 21923666, 27279822, 24061166, 22403702, 19874431, 19501237, 17291859, 16815158, 23947670, 21514438, 22220561, 21428977, 27363669, 18325573, 16444271, 20573035, 19538357, 19839980
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896

Unknown
Disease term	Disease name	Evidence	References	Source
Asthma	Asthma, Childhood asthma		31619474, 30929738, 31036433, 30552067	ClinVar, GWAS
Ichthyosis, X-Linked	recessive X-linked ichthyosis			GenCC
Eczema	Eczema			GWAS
Insomnia	Insomnia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
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, 34331429, 34484176, 35338739, 38375886, 40105091
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, 19681860, 19733298, 20376060, 20445547, 20621340, 21190945, 21261659, 21365004, 21377035, 21514438, 21753762, 22069270, 22071473, 22158606, 22164253, 22545103, 22951058, 23024286, 23039796, 23152869, 23166590, 23348739, 23528819, 23583924, 23727859, 23993222, 24061166, 24102300, 24401911, 24521637, 24858702, 24880632, 25618747, 25757221, 26071937, 26536977, 26608070, 26934939, 27015451, 27040325, 27366014, 27678121, 27793761, 27840886, 28120571, 28242341, 28259851, 28377574, 28479159, 28703805, 28732519, 29068602, 29281699, 29344612, 29428354, 29691836, 29791750, 30075366, 30515983, 30685456, 31260715, 31372728, 32066784, 32213830, 32302785, 32536107, 33282748, 33655501, 33715246, 34111454, 34271060, 34331429, 34484176, 34882715, 34984527, 35042220, 35163694, 35338739, 35616138, 35948745, 36403663, 36893939, 37067103, 37156706, 37540585, 37650296, 38250727, 38272373, 38564302, 39766227, 39826898, 40282340
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, 29507996, 30195067, 31441980, 31596431
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, 2434577, 27366014, 27793761, 30021537, 36893939, 37872553, 40282340
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