FLG (filaggrin)

Gene

• Entrez ID: 2312
• Gene name: Filaggrin
• Gene symbol: FLG
• Synonyms (NCBI Gene): ATOD2, FLG-1, FLG1
• 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
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

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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Atopic eczema	Likely pathogenic; Pathogenic	rs61816761	RCV000787952	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant ichthyosis vulgaris	Pathogenic; Likely pathogenic	rs776968118, rs200519781, rs749083759, rs746683647	RCV002471266 RCV004787778 RCV002470882 RCV005357796	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive congenital ichthyosis	Likely pathogenic; Pathogenic	rs143418984	RCV005623084	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dermatitis, atopic	Likely pathogenic; Pathogenic	rs138726443	RCV004576917	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dermatitis, atopic, 2	Likely pathogenic; Pathogenic	rs538406713, rs1651769432, rs200622741, rs756254959, rs2525145486, rs772007167, rs756353784, rs201356558, rs149484917, rs777181377, rs767261854, rs61816761, rs121909626, rs1446081294, rs528722713, rs578184315, rs200519781, rs771721862, rs763225328, rs183942200, rs146686141, rs746683647, rs372754256, rs747301529, rs1214424848, rs542799026, rs567795279, rs141375260, rs150597413, rs138726443, rs745915174	RCV004796604 RCV001336421 RCV004796610 RCV002482306 RCV002284011 RCV004796724 RCV003140537 RCV003137870 RCV003137876 RCV002494811 RCV004763652 RCV000678332 RCV002490380 RCV003989034 RCV004796177 RCV002506166 RCV004796190 RCV002264944 RCV004796199 RCV002525176 RCV005431774 RCV004796247 RCV004783825 RCV000626069 RCV000763247 RCV004796265 RCV001334986 RCV006257320 RCV001263482 RCV000763245 RCV004796346	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dermatitis, atopic, 2, susceptibility to	Likely pathogenic; Pathogenic	rs61816761, rs121909626, rs200519781	RCV000017713 RCV000017717 RCV000017719	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Eczematoid dermatitis	Likely pathogenic; Pathogenic	rs61816761	RCV001270061	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FLG-related disorder	Likely pathogenic; Pathogenic	rs114733570, rs745516434, rs767261854, rs1281410534, rs61816761, rs761877421, rs183942200, rs150597413, rs138726443	RCV003909904 RCV003417877 RCV005250304 RCV004548608 RCV003407342 RCV003403135 RCV003925562 RCV004549476 RCV004549477	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ichthyosis and erythrokeratoderma	Likely pathogenic; Pathogenic	rs201356558	RCV006249622	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ichthyosis vulgaris	Likely pathogenic; Pathogenic	rs538406713, rs200622741, rs776968118, rs1310447389, rs1365780833, rs756254959, rs763988476, rs1314484669, rs751147313, rs746608568, rs188394023, rs140424742, rs2101646027, rs575855434, rs200601767, rs2525135967, rs772007167, rs751349850, rs797045090, rs147145234, rs761212672, rs535289422, rs754812742, rs755996559, rs201356558, rs760831749, rs374588791, rs144419479, rs200002200, rs142991475, rs148606936, rs114733570, rs149484917, rs774362740, rs777181377, rs748581094, rs1428723338, rs542661380, rs753115579, rs61816761, rs121909626, rs749451902, rs2525182868, rs1355273525, rs745722569, rs545979921, rs528722713, rs1060499587, rs578184315, rs140980397, rs149105551, rs200519781, rs771721862, rs749083759, rs763225328, rs761519693, rs183942200, rs146686141, rs746683647, rs372754256, rs1214424848, rs542799026, rs567795279, rs180768115, rs141375260, rs1570897758, rs150597413, rs397507563, rs138726443, rs769826402, rs564628353, rs775716153, rs745915174, rs1570913142, rs143418984, rs1396693199	RCV001328907 RCV001333999 RCV002249989 RCV001614469 RCV001729983 RCV001783297 RCV001783298 RCV001781116 RCV001781118 RCV001781119 RCV005400519 RCV004796662 RCV001814785 RCV001814925 RCV003152774 RCV002289221 RCV004796724 RCV002468711 RCV000190587 RCV001542544 RCV000490523 RCV000490295 RCV000490412 RCV003448490 RCV001332077 RCV004783769 RCV002248494 RCV001254159 RCV002248503 RCV001814139 RCV003333057 RCV000709724 RCV000991154 RCV001782770 RCV002494811 RCV003314415 RCV003330304 RCV003330305 RCV004784156 RCV000017712 RCV000017716 RCV005363308 RCV004555129 RCV004560538 RCV005358118 RCV005230637 RCV002248656 RCV000477947 RCV001782963 RCV005239064 RCV005869504 RCV000017718 RCV002264944 RCV002248723 RCV004796199 RCV001849387 RCV002289711 RCV003338670 RCV004796247 RCV001783120 RCV000763247 RCV002248852 RCV003338725 RCV002249402 RCV006257320 RCV000791075 RCV000986413 RCV002054864 RCV000763245 RCV004789312 RCV002249627 RCV003145252 RCV004796346 RCV003338902 RCV003339471 RCV001291296	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Incidental Discovery	Likely pathogenic; Pathogenic	rs397507563	RCV005859330	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrophic scars	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive nonsyndromic hearing loss 1A	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONTACT DERMATITIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS, ATOPIC, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS, CONTACT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATOMYCOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATOPHYTOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ECZEMA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ICHTHYOSES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ichthyosis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Palmoplantar blistering	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Palmoplantar hyperhidrosis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Palmoplantar keratodermas	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEBACEOUS GLAND DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Actinic keratosis	Actinic keratosis	BEFREE	28213896		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	30767729		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	19408338, 19589816, 20816191, 21173567, 21365004, 22448455, 23374260, 29266469, 29281699, 29791750		★☆☆☆☆ Found in Text Mining only
Allergic sensitization	Allergic Sensitization	BEFREE	19589816, 20975288, 22288457, 22403702, 23848345, 23867897, 24708301, 25277085, 29068602, 29281699, 29459738, 31629803		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	17581619, 19785597		★☆☆☆☆ Found in Text Mining only
Alopecia Areata	Alopecia Areata	BEFREE	17581619, 19785597		★☆☆☆☆ Found in Text Mining only
Alopecia Areata	Alopecia Areata	LHGDN	17581619		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	23809981, 35627223, 37304256	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	32639640	Inhibit	★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	22220561, 27840886		★☆☆☆☆ Found in Text Mining only
Amyloidosis cutis dyschromia	Amyloidosis Cutis Dyschromia	BEFREE	24193097, 31783056		★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	9138475	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	23711220	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	17255953		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	LHGDN	16570058, 17531295, 18068483, 18307574, 18325573, 18396323, 18760831		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	16702964, 16990802, 17301831, 21365004, 22069270, 24708301, 25277085, 26587832, 27840886, 29068602, 29266469, 29281699, 30195067, 32536107, 33655501, 34331429, 34484176, 35338739, 38375886, 40105091	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	BEFREE	16990802, 17030239, 17224668, 17299430, 17531295, 18073125, 18307574, 18325573, 18420385, 18619666, 18769192, 19348926, 19408338, 19501237, 19538357, 19589816, 19839980, 20500796, 20573035, 20649899, 20816191, 21173567, 21252616, 21365004, 21426411, 21501248, 22030464, 22088612, 22545103, 23809342, 25277085, 25528737, 25712346, 26451970, 27653621, 27840886, 29068602, 29129583, 29266469, 29791750, 29851030, 30195067, 30822368, 30896504, 31090575		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	GWASCAT_DG	30552067, 30929738, 31036433, 31619474		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorder	Autism	Pubtator	31595719	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CLINVAR_DG	16444271		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	17704064		★☆☆☆☆ Found in Text Mining only
Avellino corneal dystrophy	Avellino Corneal Dystrophy	BEFREE	24193097, 31783056		★☆☆☆☆ Found in Text Mining only
Bowen's Disease		Pubtator	2164515	Inhibit	★☆☆☆☆ Found in Text Mining only
Brain Injuries	Brain injuries	Pubtator	23166590	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26544852, 34888385	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiolitis	Bronchiolitis	Pubtator	32628310	Stimulate	★☆☆☆☆ Found in Text Mining only
Burnett Schwartz Berberian syndrome	Burnett schwartz berberian syndrome	Pubtator	18239616, 19681860, 25660180, 35616138	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	25257949		★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	1383350	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	25383447		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	25383447		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	BEFREE	17030239, 19348926, 20573035, 22030464, 24831437, 25528737, 29266469		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	GWASCAT_DG	31036433		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	39206584	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	8850247		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33714943	Associate	★☆☆☆☆ Found in Text Mining only
Congenital ichthyosis	Congenital Ichthyosis	BEFREE	15590704, 19386895, 21945601, 24130705, 27366014, 28249031, 28710038, 30021537, 31223255		★☆☆☆☆ Found in Text Mining only
Congenital Nonbullous Ichthyosiform Erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	BEFREE	15590704, 24130705		★☆☆☆☆ Found in Text Mining only
Contact Dermatitis	Dermatitis	BEFREE	21329569, 26451970, 30747086		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Contact Dermatitis	Dermatitis	CTD_human_DG	25724174		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Contracture	Contracture	Pubtator	30431579	Associate	★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	23548340		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	19831422, 21166815, 21501248, 21777221, 23166590, 23343419, 23403047, 24055295, 24251354, 24787376, 24880632, 25659224, 26536977, 28081250, 28425595, 28615416, 29360238, 30099194, 30240702, 30426511, 30937919, 31292344, 31479542		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis	Dermatitis	Pubtator	21324289, 23166590	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis	Dermatitis	CTD_human_DG	31330126		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis Atopic	Atopic dermatitis	Pubtator	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	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	17512043, 24726196, 24940654, 27304082, 30787169, 33321923, 33453290	Inhibit	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic 1	Atopic dermatitis	Pubtator	17512043, 24940654, 27366014, 28892018	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis Contact	Contact dermatitis	Pubtator	23039796	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Allergic Contact	Dermatitis	BEFREE	18478014, 20629673, 25314673, 25832131, 31223255		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	15656815, 16550169, 16702964, 16815158, 16990802, 17224668, 17255953, 17291859, 17301831, 17410197, 17417636, 17502856, 17512043, 17573887, 17581619, 17970802, 17980411, 17989887, 18049447, 18073125, 18176743, 18200065, 18247450, 18313126, 18384254, 18420385, 18521703, 18619666, 18620134, 18637008, 18769192, 18774165, 18923650, 18976374, 19134432, 19384417, 19416262, 19477321, 19494826, 19538357, 19550302, 19589816, 19601998, 19602001, 19609059, 19663875, 19672094, 19681860, 19733298, 19785597, 19874343, 19874431, 19958351, 20089530, 20132155, 20304960, 20375880, 20376060, 20426775, 20500796, 20621340, 20629673, 20642575, 20861853, 20865458, 20923461, 20975288, 21036388, 21039602, 21173567, 21174234, 21190945, 21219289, 21261659, 21365004, 21377035, 21410766, 21426411, 21428977, 21434976, 21501248, 21514438, 21518425, 21564328, 21692775, 21701148, 21753762, 21777221, 21790526, 21812836, 21945601, 22071473, 22158554, 22158606, 22164253, 22197932, 22220561, 22277940, 22283138, 22288457, 22322004, 22361514, 22381027, 22407025, 22507048, 22545103, 22612618, 22622420, 22903496, 22951058, 22960809, 22989708, 23021783, 23024286, 23039796, 23152869, 23166590, 23290076, 23348739, 23374260, 23403047, 23528819, 23548340, 23583924, 23647067, 23792461, 23809342, 23844115, 23867897, 23869725, 24055295, 24061166, 24084074, 24102300, 24164439, 24247645, 24251354, 24330146, 24467288, 24521637, 24531413, 24726196, 24819286, 24858702, 24880632, 24919568, 24920311, 25065719, 25086748, 25131691, 25314673, 25315296, 25390410, 25445829, 25460639, 25528737, 25581911, 25618747, 25649082, 25659224, 25660180, 25693656, 25712346, 25757221, 25776938, 25997159, 26071937, 26115905, 26385242, 26453584, 26594040, 26608070, 26666481, 26821151, 26835886, 26894419, 26934939, 27040325, 27206013, 27208706, 27241890, 27304082, 27339295, 27363669, 27366014, 27519469, 27525380, 27525507, 27581203, 27653621, 27678121, 27720760, 27725295, 27793761, 27813070, 27840886, 27913303, 28057434, 28081250, 28120571, 28164424, 28213896, 28219068, 28238749, 28242341, 28259851, 28281298, 28295514, 28317091, 28347830, 28377574, 28425595, 28479159, 28522399, 28556377, 28603906, 28703805, 28709564, 28710038, 28866311, 28899689, 28967978, 29063427, 29063428, 29068602, 29129583, 29176352, 29281699, 29353040, 29360238, 29421277, 29428354, 29454536, 29485689, 29509988, 29691836, 29750772, 29791750, 30075366, 30092122, 30099194, 30199656, 30230040, 30240702, 30246302, 30357932, 30445058, 30447238, 30458183, 30465859, 30499126, 30515983, 30612663, 30681811, 30770978, 30779234, 30787169, 30822368, 30828807, 31090221, 31121896, 31203284, 31223255, 31249362, 31287580, 31292344, 31332972, 31365035, 31372728, 31404571, 31479664, 31509236, 31599965, 31622670, 31637781, 31690388, 31707051, 31773767, 31794059		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dermatitis, Atopic	Dermatitis	CLINVAR_DG	16444271, 16550169, 16815158, 17030239		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dermatitis, Atopic	Dermatitis	LHGDN	16550169, 16570058, 16990802, 17008875, 17096018, 17301831, 17980411, 17989887, 18007582, 18094728, 18176743, 18200065, 18313126, 18420385, 18521703, 18620134, 18769192, 18818676		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dermatitis, Atopic	Dermatitis	CTD_human_DG	19349982, 23042114, 23348739, 24061166		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dermatitis, Atopic, 2	Dermatitis	CLINVAR_DG	16444271		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dermatitis, Atopic, 2	Dermatitis	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dermatitis, Irritant	Dermatitis	BEFREE	18637008, 19538184, 22962861, 23039796		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	16810297, 17502856, 18396323, 19601982, 19785597, 21365004, 22182180, 22960809, 23348739, 23374260, 24061166, 24164439, 24819286, 26594040, 26835886, 28000306, 28057434, 28522399, 30447238, 30681730, 30681811		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	24367652, 31223255		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	24367652, 31223255		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	22069270	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	24367652	Associate	★☆☆☆☆ Found in Text Mining only
Disruptive, Impulse Control, and Conduct Disorders	Impulse control disorder	BEFREE	21329569, 22962861, 23039796		★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry eye syndrome	Pubtator	18239616, 22158606, 28892018	Associate	★☆☆☆☆ Found in Text Mining only
Dupuytren Contracture	Dupuytren contracture	Pubtator	18239616, 19681860, 24858702	Associate	★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	16444271, 17417636, 20790920, 21173567, 22542183, 24267886		★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	BEFREE	29507996		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	15656815, 16550169, 16702964, 16815158, 16990802, 17030239, 17224668, 17255953, 17291859, 17299430, 17301831, 17410197, 17417636, 17502856, 17512043, 17531295, 17573887, 17581619, 17970802, 17989887, 18073125, 18176743, 18200065, 18313126, 18325573, 18396323, 18420385, 18521703, 18578563, 18619666, 18620134, 18637008, 18769192, 18774165, 18774391, 18923650, 18976374, 19134432, 19348926, 19384417, 19408338, 19477321, 19494826, 19501236, 19501237, 19538357, 19550302, 19601998, 19602001, 19609059, 19672094, 19681860, 19733298, 19785597, 19839980, 19874343, 19874431, 20016199, 20028371, 20089530, 20109745, 20132155, 20304960, 20376060, 20426775, 20500796, 20513523, 20573035, 20621340, 20629673, 20642575, 20649899, 20861853, 20923461, 20975288, 21036388, 21039602, 21137118, 21173567, 21174234, 21190945, 21219289, 21252616, 21261659, 21365004, 21377035, 21410766, 21426411, 21428977, 21434976, 21501248, 21514438, 21518425, 21564328, 21692775, 21701148, 21777221, 21790526, 21812836, 22030464, 22071473, 22158606, 22164253, 22197932, 22220561, 22277940, 22283138, 22322004, 22361514, 22381027, 22403702, 22407025, 22507048, 22545103, 22612618, 22622420, 22897780, 22903496, 22951058, 22960809, 22989708, 23003573, 23021783, 23039796, 23152869, 23166590, 23290076, 23348739, 23374260, 23403047, 23445315, 23528819, 23548340, 23647067, 23792461, 23809342, 23844115, 23867897, 23869725, 24055295, 24061166, 24084074, 24102300, 24164439, 24247645, 24251354, 24330146, 24467288, 24521637, 24531413, 24708301, 24726196, 24819286, 24858702, 24880632, 24919568, 24920311, 25065719, 25086748, 25131691, 25174864, 25277085, 25314673, 25315296, 25390410, 25445829, 25460639, 25528737, 25581911, 25618747, 25649082, 25659224, 25660180, 25693656, 25712346, 25757221, 25776938, 25997159, 26071937, 26115905, 26385242, 26451970, 26453584, 26594040, 26608070, 26666481, 26821151, 26835886, 26894419, 26934939, 27040325, 27091498, 27206013, 27208706, 27241890, 27304082, 27339295, 27363669, 27366014, 27519469, 27525380, 27525507, 27581203, 27653621, 27678121, 27720760, 27725295, 27793761, 27813070, 27840886, 27913303, 28057434, 28081250, 28120571, 28164424, 28213896, 28219068, 28238749, 28242341, 28259851, 28281298, 28295514, 28317091, 28347830, 28377574, 28425595, 28456621, 28502108, 28522399, 28556377, 28603906, 28703805, 28709564, 28779526, 28866311, 28899689, 28967978, 29063427, 29063428, 29068602, 29129583, 29176352, 29266469, 29281699, 29353040, 29360238, 29421277, 29428354, 29454536, 29485689, 29507996, 29509988, 29604251, 29691836, 29750772, 29791750, 29851030, 30075366, 30092122, 30099194, 30159849, 30195067, 30199656, 30230040, 30240702, 30246302, 30357932, 30445058, 30447238, 30458183, 30465859, 30499126, 30515983, 30612663, 30681811, 30770978, 30779234, 30787169, 30822368, 30828807, 30869802, 31090221, 31121896, 31203284, 31223255, 31249362, 31287580, 31292344, 31332972, 31365035, 31372728, 31404571, 31441980, 31479664, 31509236, 31622670, 31637781, 31690388, 31707051, 31773767, 31794059		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eczema	Eczema	CLINVAR_DG	16444271		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eczema	Eczema	GENOMICS_ENGLAND_DG	16550169		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eczema	Eczema	Pubtator	16990802, 17299430, 18176743, 18313126, 19681860, 20109745, 22403702, 23003573, 24102300, 24708301, 25174864, 25277085, 28502108, 29068602, 29266469, 29507996, 30195067, 31441980, 31596431	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eczema	Eczema	LHGDN	17417636, 18620134, 18760831		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eczema	Eczema	CTD_human_DG	17417636		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eczema	Eczema	GWASCAT_DG	30595370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eczema	Eczema	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eczema, Infantile	Eczema	CTD_human_DG	19349982, 23042114, 23348739, 24061166		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	28615416		★☆☆☆☆ Found in Text Mining only
Eosinophilic esophagitis	Eosinophilia	BEFREE	20208004, 25620273, 27233150, 28644349, 28712126, 29746170		★☆☆☆☆ Found in Text Mining only
Eosinophilic Esophagitis	Eosinophilia	Pubtator	20208004, 23503644, 29746170	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilic Esophagitis	Eosinophilia	Pubtator	28712126	Inhibit	★☆☆☆☆ Found in Text Mining only
Epidermodysplasia Verruciformis	Epidermodysplasia Verruciformis	BEFREE	19515043		★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Pruriginosa	Epidermolysis Bullosa Pruriginosa	BEFREE	18565177		★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	23503644, 24924748	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	BEFREE	28644349		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	23331673		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	34081618	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	31404571		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	30431579	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	26833520	Associate	★☆☆☆☆ Found in Text Mining only
Hyperkeratosis, Epidermolytic	Hyperkeratosis, Epidermolytic	BEFREE	10980462, 29803800		★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	16702964, 17581619, 21377035, 22158606, 24367652, 24880632, 26833520	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	32315356	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	37730603	Associate	★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	BEFREE	15590704, 19386895, 21945601, 27366014, 28249031, 28526300, 28710038, 29803800, 30021537, 31223255		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ichthyoses	Ichthyosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ichthyoses	Ichthyosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ichthyosiform Erythroderma, Congenital	Ichthyosis Congenita	BEFREE	15590704, 24130705		★☆☆☆☆ Found in Text Mining only
Ichthyosis	Ichthyosis	Pubtator	16810297, 27366014, 29803800, 30021537, 33807935	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ichthyosis linearis circumflexa	Netherton syndrome	BEFREE	15590704, 20179351, 21174234		★☆☆☆☆ Found in Text Mining only
Ichthyosis Vulgaris	Ichthyosis Vulgaris	BEFREE	16444271, 16702965, 16810297, 16815158, 17164798, 17291859, 17417636, 17502856, 17573887, 17657246, 18049447, 18200065, 18239616, 18341575, 18384254, 18396323, 18420385, 19183181, 19384417, 19386895, 19416262, 19681860, 19958351, 20222934, 20865458, 21039602, 21173567, 21428977, 21514438, 21692775, 21701148, 21945601, 22158554, 22164253, 22299762, 22407025, 22612618, 22960809, 23152869, 23290076, 23297869, 23301728, 23757122, 24119255, 24130705, 24330146, 2437218, 24467288, 24920311, 25660180, 2579164, 27339295, 27366014, 27519469, 27525507, 27793761, 28191671, 28455573, 28526300, 28709564, 28710038, 28899689, 30021537, 30246302, 30549102, 30896504, 31090575, 7951667		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ichthyosis Vulgaris	Ichthyosis Vulgaris	CLINVAR_DG	16444271, 16550169, 16815158, 17030239, 18200065, 18325573, 19501237, 19538357, 19733298, 19839980, 19874431, 20573035, 21428977, 21514438, 21923666, 22220561, 22403702, 23947670, 27279822, 27363669		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ichthyosis Vulgaris	Ichthyosis Vulgaris	GENOMICS_ENGLAND_DG	16550169, 17291859		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ichthyosis Vulgaris	Ichthyosis vulgaris	Pubtator	16702964, 16702965, 16810297, 17657246, 18079749, 18200065, 18239616, 18521703, 19384417, 19681860, 20445547, 21514438, 22164253, 23152869, 24130705, 2434577, 27366014, 27793761, 30021537, 36893939, 37872553, 40282340	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ichthyosis Vulgaris	Ichthyosis Vulgaris	LHGDN	17417636, 18200065, 18239616		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ichthyosis Vulgaris	Ichthyosis Vulgaris	CTD_human_DG	17417636, 24061166		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ichthyosis Vulgaris	Ichthyosis vulgaris	Pubtator	2437218	Inhibit	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ichthyosis, X-Linked	Ichthyosis	BEFREE	17657246, 19785597, 21945601, 22164253, 24130705, 25315296, 27478344, 30021537		★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	LHGDN	17657246		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	19408338		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	CLINVAR_DG	16444271, 16550169, 16815158, 17030239		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	23403047, 24055295, 24251354, 24787376, 26536977, 28615416, 29791750, 30099194, 30240702, 30937919, 31292344		★☆☆☆☆ Found in Text Mining only
Inflammatory linear verrucous epidermal nevus	Inflammatory Linear Verrucous Epidermal Nevus	BEFREE	29166506		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	30431579	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	28164424		★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	BEFREE	24247645		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	21701148		★☆☆☆☆ Found in Text Mining only
Keratosis pilaris	Keratosis pilaris	BEFREE	18239616, 23421459, 25660180		★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	28842327, 33047146	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	24919568		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	1851551		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24628370, 24905740, 28833578, 30399560		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	25383447		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	1851551		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28833578, 31425296		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	32869947	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma Cutaneous Malignant	Melanoma	Pubtator	32869947, 37205232	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	32337289	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	16444271, 17417636, 20790920, 21173567, 22542183, 24267886		★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya Disease	BEFREE	28710038		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	1716421, 1851551, 28455573, 29778426, 30181613		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	36037157	Associate	★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgaris	Ichthyosis Vulgaris	Orphanet			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pachyonychia Congenita	Pachyonychia Congenita	BEFREE	19785597		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	25945796	Associate	★☆☆☆☆ Found in Text Mining only
Placental Steroid Sulfatase Deficiency	Placental Steroid Sulfatase Deficiency	BEFREE	17657246, 19785597, 21945601, 24130705		★☆☆☆☆ Found in Text Mining only
Pruritus	Pruritus	Pubtator	31596431, 38272373	Associate	★☆☆☆☆ Found in Text Mining only
Pruritus	Pruritus	Pubtator	37762597	Stimulate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	17410197, 18193244, 19554025, 20089530, 21346775, 21564328, 22182180, 22407025, 22622420, 24919568, 30357932		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	LHGDN	18193244		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	19554025	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	21346775	Inhibit	★☆☆☆☆ Found in Text Mining only
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	17255953, 21564328, 22407025, 27208706, 29166506		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	37730603	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	29266469	Associate	★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	17704064, 30543920, 9886436		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	17704064		★☆☆☆☆ Found in Text Mining only
Rhinitis	Rhinitis	BEFREE	24708301, 25277085, 29266469, 31441980		★☆☆☆☆ Found in Text Mining only
Rhinitis	Rhinitis	Pubtator	24708301, 25277085, 29266469, 31441980	Associate	★☆☆☆☆ Found in Text Mining only
Rhinitis Allergic	Rhinitis	Pubtator	21365004, 29266469, 29281699, 32536107, 35338739	Associate	★☆☆☆☆ Found in Text Mining only
Rhinitis Allergic Perennial	Rhinitis	Pubtator	34331429	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	27306066		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	9716033	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	34969953	Associate	★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	16810297, 18239616, 22936986, 24858702, 29130490, 35474514, 36692677	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	21564328, 30099194, 30691219, 31404571, 31678637		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	23727859, 25757221	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	29507996		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	30431579	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	21048034		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	23645350	Associate	★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	21945601, 28710038		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	27535066		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27535066, 32034058	Associate	★☆☆☆☆ Found in Text Mining only
Type II Mucolipidosis	Mucolipidosis	BEFREE	21329569, 22962861, 23039796		★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	BEFREE	24726196		★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	Pubtator	24726196	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin d deficiency	Pubtator	38250727	Inhibit	★☆☆☆☆ Found in Text Mining only
Waardenburg Anophthalmia Syndrome	Microphthalmia with limb anomalies	BEFREE	23548340		★☆☆☆☆ Found in Text Mining only
X-linked agammaglobulinemia	Agammaglobulinemia, X-Linked	BEFREE	31773767		★☆☆☆☆ Found in Text Mining only