EDA (ectodysplasin A)

Gene

• Entrez ID: 1896
• Gene name: Ectodysplasin A
• Gene symbol: EDA
• Synonyms (NCBI Gene): ECTD1, ED1, ED1-A1, ED1-A2, EDA-A1, EDA-A2, EDA1, EDA2, HED, HED1, ODT1, STHAGX1, TNLG7C, XHED, XLHED
• Chromosome: X
• Chromosome location: Xq13.1
• Summary: The protein encoded by this gene is a type II membrane protein that can be cleaved by furin to produce a secreted form. The encoded protein, which belongs to the tumor necrosis factor family, acts as a homotrimer and may be involved in cell-cell signaling

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs132630308	T>A,C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs132630309	G>T	Conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs132630310	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs132630311	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs132630312	C>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs132630313	C>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs132630314	G>A,T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs132630315	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant
rs132630316	G>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs132630317	G>A,T	Pathogenic	Coding sequence variant, downstream transcript variant, missense variant, genic downstream transcript variant
rs132630318	C>G	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs132630319	C>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs132630320	C>G	Pathogenic	Coding sequence variant, downstream transcript variant, missense variant, genic downstream transcript variant
rs132630321	C>T	Pathogenic	Coding sequence variant, downstream transcript variant, missense variant, genic downstream transcript variant
rs142948132	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Coding sequence variant, downstream transcript variant, missense variant, genic downstream transcript variant
rs387907197	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs397516654	T>C	Likely-pathogenic, pathogenic	Genic downstream transcript variant, missense variant, downstream transcript variant, coding sequence variant
rs397516656	->G	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs397516657	T>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs397516659	T>C	Pathogenic	Non coding transcript variant, missense variant, initiator codon variant
rs397516660	C>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs397516661	T>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs397516662	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs397516665	TGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCC>-	Pathogenic	Genic downstream transcript variant, inframe deletion, coding sequence variant
rs397516666	AATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCC>-	Pathogenic	Genic downstream transcript variant, inframe deletion, coding sequence variant
rs397516667	CCAGGACCCCCAGGACCTCCAGGACCCC>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs397516668	CAGGACCTCCAGGACCCC>-,CAGGACCTCCAGGACCCCCAGGACCTCCAGGACCCC	Pathogenic	Genic downstream transcript variant, inframe insertion, inframe deletion, coding sequence variant
rs397516670	TCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGG>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs397516671	C>T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs397516672	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs397516675	G>A,T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, missense variant, stop gained, coding sequence variant
rs397516676	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs397516677	G>A	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs397516679	G>A	Likely-pathogenic	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant
rs397516681	A>G	Likely-pathogenic	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant
rs397516682	G>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, downstream transcript variant, stop gained, genic downstream transcript variant
rs483352804	G>A,T	Likely-pathogenic, not-provided	Genic downstream transcript variant, missense variant, downstream transcript variant, coding sequence variant
rs727503007	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs727503008	T>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs727503009	A>G,T	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant
rs727503010	C>-	Pathogenic	Genic downstream transcript variant, frameshift variant, downstream transcript variant, coding sequence variant
rs727503011	C>T	Pathogenic	Genic downstream transcript variant, stop gained, downstream transcript variant, coding sequence variant
rs727504417	C>G,T	Pathogenic	Genic downstream transcript variant, missense variant, stop gained, coding sequence variant
rs727504537	G>A	Pathogenic	Splice donor variant
rs727504649	A>C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs727504750	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant
rs727504814	T>C,G	Pathogenic	Splice donor variant
rs727505013	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs727505089	->GGGT	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs749830948	G>A,T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs780582849	C>A,T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, synonymous variant
rs780966428	G>A,T	Pathogenic	Genic downstream transcript variant, intron variant
rs781394318	A>G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs876657639	C>T	Pathogenic-likely-pathogenic	Downstream transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs876657640	A>T	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs876657641	G>A,C	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs876657642	A>C	Likely-pathogenic	Intron variant, missense variant, genic downstream transcript variant, coding sequence variant
rs876657684	->GGGC	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs876657685	ACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACC>-	Pathogenic	Inframe deletion, genic downstream transcript variant, coding sequence variant
rs876657686	CAGGTCCTCCTGGTCCTC>-	Pathogenic, pathogenic-likely-pathogenic	Inframe deletion, genic downstream transcript variant, coding sequence variant
rs876657687	T>C,G	Pathogenic	Stop gained, synonymous variant, genic downstream transcript variant, downstream transcript variant, coding sequence variant
rs879255551	C>T	Likely-pathogenic, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs879255552	A>T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs879255611	C>A,T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs886039344	G>A	Pathogenic	Genic downstream transcript variant, splice donor variant
rs886039347	C>T	Uncertain-significance, pathogenic	Downstream transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs886039466	G>A	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs886042021	G>A	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs886042183	G>A,T	Uncertain-significance, pathogenic	Synonymous variant, missense variant, genic downstream transcript variant, coding sequence variant
rs1057517731	G>T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1057517882	G>C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1057517971	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1057518211	A>C	Likely-pathogenic	Downstream transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1057520742	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1057521131	G>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs1064793104	GATTCCTGGAATTCCAGG>-	Likely-pathogenic	Coding sequence variant, inframe deletion, genic downstream transcript variant
rs1064793105	G>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1064793106	A>G	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, intron variant
rs1085307599	T>C	Likely-pathogenic	Downstream transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1131691566	G>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, stop gained
rs1131692034	C>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1555972067	CCGCCTT>AA	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1555972071	->G	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1555972137	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1556098384	->C	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1556098553	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1556098570	C>-,CC	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1556098733	G>C,T	Uncertain-significance, pathogenic	Genic downstream transcript variant, stop gained, missense variant, coding sequence variant
rs1556098806	C>T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1556098978	ACCCCCTGGCCTCCAGG>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1556110195	TATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGC>-	Likely-pathogenic	Genic downstream transcript variant, inframe deletion, downstream transcript variant, coding sequence variant
rs1556110379	C>G	Likely-pathogenic	Genic downstream transcript variant, downstream transcript variant, missense variant, coding sequence variant
rs1556110934	C>TCAAGATGG	Likely-pathogenic	Genic downstream transcript variant, downstream transcript variant, frameshift variant, coding sequence variant
rs1569272194	A>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1569272328	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1569272528	->A	Pathogenic	Intron variant
rs1569384962	->T	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569404780	A>T	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1569404873	->T	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569406514	->TA	Pathogenic	Coding sequence variant, frameshift variant, intron variant, genic downstream transcript variant
rs1569407346	C>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1602221405	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1602564282	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1602618442	->C	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1602624745	G>A	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, downstream transcript variant
rs1602625000	G>A	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051411	hsa-let-7f-5p	CLASH	23622248
MIRT951892	hsa-let-7a	CLIP-seq
MIRT951893	hsa-let-7b	CLIP-seq
MIRT951894	hsa-let-7c	CLIP-seq
MIRT951895	hsa-let-7d	CLIP-seq
MIRT951896	hsa-let-7e	CLIP-seq
MIRT951897	hsa-let-7f	CLIP-seq
MIRT951898	hsa-let-7g	CLIP-seq
MIRT951899	hsa-let-7i	CLIP-seq
MIRT951900	hsa-miR-1247	CLIP-seq
MIRT951901	hsa-miR-1260	CLIP-seq
MIRT951902	hsa-miR-1260b	CLIP-seq
MIRT951903	hsa-miR-1299	CLIP-seq
MIRT951904	hsa-miR-130a	CLIP-seq
MIRT951905	hsa-miR-130b	CLIP-seq
MIRT951906	hsa-miR-1324	CLIP-seq
MIRT951907	hsa-miR-188-3p	CLIP-seq
MIRT951908	hsa-miR-301a	CLIP-seq
MIRT951909	hsa-miR-301b	CLIP-seq
MIRT951910	hsa-miR-3065-5p	CLIP-seq
MIRT951911	hsa-miR-3121-5p	CLIP-seq
MIRT951912	hsa-miR-3156-3p	CLIP-seq
MIRT951913	hsa-miR-3160-5p	CLIP-seq
MIRT951914	hsa-miR-3176	CLIP-seq
MIRT951915	hsa-miR-326	CLIP-seq
MIRT951916	hsa-miR-330-5p	CLIP-seq
MIRT951917	hsa-miR-3591-5p	CLIP-seq
MIRT951918	hsa-miR-3666	CLIP-seq
MIRT951919	hsa-miR-3689d	CLIP-seq
MIRT951920	hsa-miR-370	CLIP-seq
MIRT951921	hsa-miR-3922-3p	CLIP-seq
MIRT951922	hsa-miR-4257	CLIP-seq
MIRT951923	hsa-miR-4287	CLIP-seq
MIRT951924	hsa-miR-4295	CLIP-seq
MIRT951925	hsa-miR-4301	CLIP-seq
MIRT951926	hsa-miR-4330	CLIP-seq
MIRT951927	hsa-miR-4421	CLIP-seq
MIRT951928	hsa-miR-4458	CLIP-seq
MIRT951929	hsa-miR-4473	CLIP-seq
MIRT951930	hsa-miR-4500	CLIP-seq
MIRT951931	hsa-miR-454	CLIP-seq
MIRT951932	hsa-miR-4670-3p	CLIP-seq
MIRT951933	hsa-miR-4671-3p	CLIP-seq
MIRT951934	hsa-miR-4685-3p	CLIP-seq
MIRT951935	hsa-miR-4768-5p	CLIP-seq
MIRT951936	hsa-miR-4782-5p	CLIP-seq
MIRT951937	hsa-miR-4789-3p	CLIP-seq
MIRT951938	hsa-miR-495	CLIP-seq
MIRT951939	hsa-miR-516b	CLIP-seq
MIRT951940	hsa-miR-98	CLIP-seq
MIRT951941	hsa-miR-1323	CLIP-seq
MIRT951942	hsa-miR-3921	CLIP-seq
MIRT951943	hsa-miR-4653-5p	CLIP-seq
MIRT951944	hsa-miR-4714-5p	CLIP-seq
MIRT951945	hsa-miR-548g	CLIP-seq
MIRT951946	hsa-miR-548o	CLIP-seq
MIRT951947	hsa-miR-582-3p	CLIP-seq
MIRT951892	hsa-let-7a	CLIP-seq
MIRT951893	hsa-let-7b	CLIP-seq
MIRT951894	hsa-let-7c	CLIP-seq
MIRT951895	hsa-let-7d	CLIP-seq
MIRT951896	hsa-let-7e	CLIP-seq
MIRT951897	hsa-let-7f	CLIP-seq
MIRT951898	hsa-let-7g	CLIP-seq
MIRT951899	hsa-let-7i	CLIP-seq
MIRT1981896	hsa-miR-1	CLIP-seq
MIRT1981897	hsa-miR-103a	CLIP-seq
MIRT1981898	hsa-miR-107	CLIP-seq
MIRT1981899	hsa-miR-15a	CLIP-seq
MIRT1981900	hsa-miR-15b	CLIP-seq
MIRT1981901	hsa-miR-16	CLIP-seq
MIRT1981902	hsa-miR-194	CLIP-seq
MIRT1981903	hsa-miR-195	CLIP-seq
MIRT1981904	hsa-miR-205	CLIP-seq
MIRT1981905	hsa-miR-206	CLIP-seq
MIRT1981906	hsa-miR-3673	CLIP-seq
MIRT1981907	hsa-miR-3692	CLIP-seq
MIRT951920	hsa-miR-370	CLIP-seq
MIRT1981908	hsa-miR-3978	CLIP-seq
MIRT1981909	hsa-miR-424	CLIP-seq
MIRT951922	hsa-miR-4257	CLIP-seq
MIRT1981910	hsa-miR-4279	CLIP-seq
MIRT1981911	hsa-miR-4434	CLIP-seq
MIRT951928	hsa-miR-4458	CLIP-seq
MIRT951930	hsa-miR-4500	CLIP-seq
MIRT1981912	hsa-miR-4516	CLIP-seq
MIRT1981913	hsa-miR-4531	CLIP-seq
MIRT1981914	hsa-miR-4659a-5p	CLIP-seq
MIRT1981915	hsa-miR-4659b-5p	CLIP-seq
MIRT1981916	hsa-miR-4688	CLIP-seq
MIRT951935	hsa-miR-4768-5p	CLIP-seq
MIRT1981917	hsa-miR-4769-3p	CLIP-seq
MIRT1981918	hsa-miR-4790-3p	CLIP-seq
MIRT1981919	hsa-miR-497	CLIP-seq
MIRT1981920	hsa-miR-513a-5p	CLIP-seq
MIRT1981921	hsa-miR-613	CLIP-seq
MIRT1981922	hsa-miR-802	CLIP-seq
MIRT1981923	hsa-miR-877	CLIP-seq
MIRT951940	hsa-miR-98	CLIP-seq
MIRT1981911	hsa-miR-4434	CLIP-seq
MIRT1981912	hsa-miR-4516	CLIP-seq
MIRT1981913	hsa-miR-4531	CLIP-seq
MIRT951892	hsa-let-7a	CLIP-seq
MIRT951893	hsa-let-7b	CLIP-seq
MIRT951894	hsa-let-7c	CLIP-seq
MIRT951895	hsa-let-7d	CLIP-seq
MIRT951896	hsa-let-7e	CLIP-seq
MIRT951897	hsa-let-7f	CLIP-seq
MIRT951898	hsa-let-7g	CLIP-seq
MIRT951899	hsa-let-7i	CLIP-seq
MIRT2216790	hsa-miR-1245b-5p	CLIP-seq
MIRT2216791	hsa-miR-3142	CLIP-seq
MIRT951914	hsa-miR-3176	CLIP-seq
MIRT2216792	hsa-miR-3183	CLIP-seq
MIRT951921	hsa-miR-3922-3p	CLIP-seq
MIRT951922	hsa-miR-4257	CLIP-seq
MIRT2216793	hsa-miR-4312	CLIP-seq
MIRT1981911	hsa-miR-4434	CLIP-seq
MIRT951928	hsa-miR-4458	CLIP-seq
MIRT951930	hsa-miR-4500	CLIP-seq
MIRT1981912	hsa-miR-4516	CLIP-seq
MIRT1981913	hsa-miR-4531	CLIP-seq
MIRT2216794	hsa-miR-4650-5p	CLIP-seq
MIRT2216795	hsa-miR-4690-5p	CLIP-seq
MIRT2216796	hsa-miR-4723-3p	CLIP-seq
MIRT951940	hsa-miR-98	CLIP-seq
MIRT951892	hsa-let-7a	CLIP-seq
MIRT951893	hsa-let-7b	CLIP-seq
MIRT951894	hsa-let-7c	CLIP-seq
MIRT951895	hsa-let-7d	CLIP-seq
MIRT951896	hsa-let-7e	CLIP-seq
MIRT951897	hsa-let-7f	CLIP-seq
MIRT951898	hsa-let-7g	CLIP-seq
MIRT951899	hsa-let-7i	CLIP-seq
MIRT951922	hsa-miR-4257	CLIP-seq
MIRT1981911	hsa-miR-4434	CLIP-seq
MIRT951928	hsa-miR-4458	CLIP-seq
MIRT951930	hsa-miR-4500	CLIP-seq
MIRT1981912	hsa-miR-4516	CLIP-seq
MIRT1981913	hsa-miR-4531	CLIP-seq
MIRT951940	hsa-miR-98	CLIP-seq
MIRT951914	hsa-miR-3176	CLIP-seq
MIRT951921	hsa-miR-3922-3p	CLIP-seq
MIRT2465189	hsa-miR-4468	CLIP-seq
MIRT2465190	hsa-miR-4494	CLIP-seq
MIRT2465191	hsa-miR-4771	CLIP-seq
MIRT2465192	hsa-miR-624	CLIP-seq
MIRT2520769	hsa-miR-141	CLIP-seq
MIRT2520770	hsa-miR-200a	CLIP-seq
MIRT2520771	hsa-miR-4734	CLIP-seq
MIRT951935	hsa-miR-4768-5p	CLIP-seq
MIRT2520772	hsa-miR-486-3p	CLIP-seq
MIRT2679735	hsa-miR-1200	CLIP-seq
MIRT2679736	hsa-miR-1207-5p	CLIP-seq
MIRT2520769	hsa-miR-141	CLIP-seq
MIRT2679737	hsa-miR-1827	CLIP-seq
MIRT2520770	hsa-miR-200a	CLIP-seq
MIRT2679738	hsa-miR-4324	CLIP-seq
MIRT2679739	hsa-miR-4514	CLIP-seq
MIRT2679740	hsa-miR-4645-5p	CLIP-seq
MIRT2679741	hsa-miR-4649-3p	CLIP-seq
MIRT2679742	hsa-miR-4673	CLIP-seq
MIRT2679743	hsa-miR-4692	CLIP-seq
MIRT2679744	hsa-miR-4763-3p	CLIP-seq
MIRT951935	hsa-miR-4768-5p	CLIP-seq
MIRT2520772	hsa-miR-486-3p	CLIP-seq
MIRT2679745	hsa-miR-544b	CLIP-seq
MIRT2679746	hsa-miR-940	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
LEF1	Unknown	12039047

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001942	Process	Hair follicle development	IEA
GO:0005102	Function	Signaling receptor binding	IDA	11039935
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005102	Function	Signaling receptor binding	TAS	10484778
GO:0005123	Function	Death receptor binding	IDA	27144394
GO:0005123	Function	Death receptor binding	IPI	27144394
GO:0005125	Function	Cytokine activity	IBA
GO:0005125	Function	Cytokine activity	IDA	11039935
GO:0005125	Function	Cytokine activity	IEA
GO:0005164	Function	Tumor necrosis factor receptor binding	IEA
GO:0005515	Function	Protein binding	IPI	11039935, 11780064, 24722188, 25416956, 25910212, 31515488, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005581	Component	Collagen trimer	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005811	Component	Lipid droplet	IDA
GO:0005856	Component	Cytoskeleton	TAS	10484778
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9736768, 10484778
GO:0006955	Process	Immune response	IBA
GO:0006955	Process	Immune response	IEA
GO:0007160	Process	Cell-matrix adhesion	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	8696334
GO:0019221	Process	Cytokine-mediated signaling pathway	IDA	11039935
GO:0019221	Process	Cytokine-mediated signaling pathway	IMP	27144394
GO:0030154	Process	Cell differentiation	IEA
GO:0038177	Function	Death receptor agonist activity	IMP	27144394
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IMP	27144394
GO:0042476	Process	Odontogenesis	IBA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IBA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IDA	11039935
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IEA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IEA
GO:0043473	Process	Pigmentation	IEA
GO:0043588	Process	Skin development	IEA
GO:0045177	Component	Apical part of cell	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0060662	Process	Salivary gland cavitation	IEA
GO:0060789	Process	Hair follicle placode formation	IEA
GO:0061153	Process	Trachea gland development	IEA
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IEA
GO:1901222	Process	Regulation of non-canonical NF-kappaB signal transduction	IEA
GO:1901222	Process	Regulation of non-canonical NF-kappaB signal transduction	IMP	27144394
GO:1901224	Process	Positive regulation of non-canonical NF-kappaB signal transduction	IEA

Other IDs

• MIM: 300451
• HGNC: 3157
• e!Ensembl: ENSG00000158813

Protein

• UniProt ID: Q92838
• Protein name: Ectodysplasin-A (Ectodermal dysplasia protein) (EDA protein) [Cleaved into: Ectodysplasin-A, membrane form; Ectodysplasin-A, secreted form]
• Protein function: Cytokine which is involved in epithelial-mesenchymal signaling during morphogenesis of ectodermal organs. Functions as a ligand activating the DEATH-domain containing receptors EDAR and EDA2R (PubMed:11039935, PubMed:27144394, PubMed:34582123, P
• PDB: 1RJ7, 1RJ8, 7X9G
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00229	TNF	272 → 385	TNF(Tumour Necrosis Factor) family	Domain

• Tissue specificity: TISSUE SPECIFICITY: Not abundant; expressed in specific cell types of ectodermal (but not mesodermal) origin of keratinocytes, hair follicles, sweat glands. Also in adult heart, liver, muscle, pancreas, prostate, fetal liver, uterus, small intestine and u
• Sequence:

  MGYPEVERRELLPAAAPRERGSQGCGCGGAPARAGEGNSCLLFLGFFGLSLALHLLTLCC
  YLELRSELRRERGAESRLGGSGTPGTSGTLSSLGGLDPDSPITSHLGQPSPKQQPLEPGE
  AALHSDSQDGHQMALLNFFFPDEKPYSEEESRRVRRNKRSKSNEGADGPVKNKKKGKKAG
  PPGPNGPPGPPGPPGPQGPPGIPGIPGIPGTTVMGPPGPPGPPGPQGPPGLQGPSGAADK
  AGTRENQPAVVHLQGQGSAIQVKNDLSGGVLNDWSRITMNPKVFKLHPRSGELEVLVDGT
  YFIYSQVEVYYINFTDFASYEVVVDEKPFLQCTRSIETGKTNYNTCYTAGVCLLKARQKI
  AVKMVHADISINMSKHTTFFGAIRLGEAPAS

• Sequence length: 391

Pathways

KEGG:

Cytokine-cytokine receptor interaction
NF-kappa B signaling pathway

Reactome:

TNFs bind their physiological receptors

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
Anhidrotic ectodermal dysplasia	Pathogenic; Likely pathogenic	rs876657686, rs876657641, rs397516662, rs397516677	RCV003235137 RCV003317157 RCV003478983 RCV003398602	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ectodermal dysplasia	Likely pathogenic; Pathogenic	rs876657641, rs132630314, rs387907197	RCV005860039 RCV005859327 RCV000626808	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EDA-related disorder	Pathogenic; Likely pathogenic	rs2147511678, rs876657685, rs886039347, rs132630313, rs2520343091, rs2520346795, rs1556098570, rs397516654, rs397516668, rs397516672, rs397516682	RCV003399399 RCV004754361 RCV004730918 RCV003390668 RCV003410507 RCV003404445 RCV003905343 RCV004545739 RCV003904911 RCV003904912 RCV003904913	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypodontia	Likely pathogenic; Pathogenic	rs876657641, rs397516654	RCV000223248 RCV000037161	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypohidrotic X-linked ectodermal dysplasia	Likely pathogenic; Pathogenic	rs2020256386, rs2147196982, rs2147197808, rs2147197831, rs2147197866, rs2147419086, rs2147419276, rs2147509622, rs2147509660, rs2147509775, rs2147509853, rs2147509886, rs2147516275, rs191378148, rs876657639, rs2147509771, rs1556098733, rs2147511696, rs2147516267, rs2147511678, rs2147519384, rs2147519482, rs2147516572, rs1602221926, rs1791938725, rs2147503858, rs132630317, rs2147509524, rs2147519270, rs982209417, rs2147509712, rs2147509825, rs2147516557, rs2147516240, rs2147198269, rs2147516523, rs2147509932, rs1416551006, rs2147519167, rs886039344, rs2520343206, rs2519670205, rs727504814, rs727505013, rs727504417, rs727503008, rs727503011, rs727505089, rs727504537, rs727504649, rs727503007, rs397516675, rs727503010, rs2520343256, rs2519669835, rs2520343200, rs727503009, rs764146823, rs2520347265, rs387907197, rs397516677, rs2520343480, rs2520346450, rs886042021, rs2520347360, rs1208076212, rs2520334969, rs2520346616, rs2520343039, rs2520346963, rs2520343419, rs876657640, rs876657685, rs876657684, rs876657686, rs876657641, rs876657642, rs876657687, rs2519670851, rs2519669569, rs2519669796, rs879255551, rs879255552, rs886039347, rs132630308, rs132630310, rs132630311, rs132630312, rs132630313, rs132630314, rs132630316, rs132630318, rs1569404873, rs1569406514, rs132630321, rs2520335334, rs2519670437, rs2520242542, rs2519670387, rs2520242345, rs2520334457, rs2520337535, rs754851778, rs397516659, rs2519669860, rs1931942632, rs2520335192, rs758429613, rs2520346923, rs2520343545, rs2520347019, rs2520346836, rs397516679, rs2520335121, rs2147509613, rs2520242340, rs2520334697, rs2520346934, rs2520335042, rs2520343398, rs2519670739, rs2519671247, rs1057517731, rs1057520742, rs1057521131, rs1064793104, rs1064793105, rs749830948, rs1131692034, rs1556110379, rs1555972067, rs1556110934, rs1556039088, rs1556039084, rs1556092261, rs1556098384, rs1556098570, rs1556110308, rs397516654, rs397516656, rs397516657, rs397516660, rs397516661, rs397516662, rs397516664, rs397516665, rs397516666, rs397516667, rs397516668, rs397516670, rs397516671, rs397516672, rs397516676, rs397516681, rs397516682, rs1556098978, rs886042183, rs1555972071, rs1569404780, rs1569272203, rs1569272528, rs1569384962, rs1569404950, rs1569407150, rs1569407346, rs1569272328, rs1569272194, rs1602618255, rs1602618398, rs1602622972, rs1602624745, rs1602614385, rs780966428, rs1602618442, rs1602625000, rs1602614410, rs1602221405, rs2019017595, rs2020137674, rs2020138975, rs2020139065, rs2020255486, rs2020140911, rs1931920527, rs1931938364, rs1931956776, rs2019019815, rs2020139491	RCV001314954 RCV001383222 RCV001384052 RCV001390512 RCV001389869 RCV001384513 RCV001383921 RCV001385220 RCV001389804 RCV001384206 RCV001383224 RCV001383223 RCV001383225 RCV001385708 RCV001385709 RCV001543630 RCV001543631 RCV001543632 RCV005040327 RCV001866231 RCV001843310 RCV001807899 RCV001942878 RCV001990370 RCV002030805 RCV001872188 RCV001964125 RCV002040038 RCV002497951 RCV002046618 RCV001958619 RCV001949391 RCV001956142 RCV002000768 RCV001953549 RCV001951402 RCV001982885 RCV002010068 RCV002043477 RCV002226997 RCV002280809 RCV002287217 RCV000156149 RCV000156436 RCV000686194 RCV000150599 RCV000150607 RCV000156531 RCV000155689 RCV000155912 RCV000150598 RCV000150600 RCV000150605 RCV002468704 RCV003064733 RCV003064734 RCV003050618 RCV003064735 RCV003050619 RCV003111851 RCV002601900 RCV002746329 RCV002843238 RCV002834901 RCV002847768 RCV002933311 RCV002971884 RCV003010168 RCV003019308 RCV003031527 RCV003031833 RCV003054113 RCV000218495 RCV000213703 RCV000213343 RCV000402007 RCV001054886 RCV000214953 RCV000222108 RCV000809933 RCV003110184 RCV003140411 RCV003153201 RCV000692210 RCV000239466 RCV000525670 RCV000532383 RCV000011778 RCV000011780 RCV000011781 RCV000011782 RCV000011783 RCV000032612 RCV000011786 RCV000011787 RCV000011788 RCV000011793 RCV000011794 RCV001205829 RCV001347864 RCV003327319 RCV003328118 RCV003337894 RCV003388286 RCV003523997 RCV003523977 RCV003524133 RCV003524136 RCV003523382 RCV003523383 RCV003523384 RCV003523385 RCV003523386 RCV003522713 RCV003522618 RCV003522745 RCV003639696 RCV003639749 RCV003639680 RCV003639687 RCV003639852 RCV003639871 RCV003640039 RCV003640129 RCV003640272 RCV003640355 RCV003992641 RCV004018326 RCV001865280 RCV000526582 RCV000822954 RCV000024599 RCV000805136 RCV003522980 RCV001851133 RCV000494692 RCV002295301 RCV000552186 RCV000553050 RCV000559389 RCV000544580 RCV000530627 RCV000537831 RCV000548188 RCV000536911 RCV000555399 RCV000542700 RCV000037163 RCV000037164 RCV000037166 RCV000037167 RCV000037168 RCV000592238 RCV000037172 RCV000037174 RCV000694688 RCV000037176 RCV000037177 RCV000633503 RCV000551802 RCV000037181 RCV000037183 RCV000037187 RCV000037188 RCV000037189 RCV000037191 RCV000037193 RCV000037194 RCV000633501 RCV000633505 RCV000633502 RCV000705031 RCV000689256 RCV000690311 RCV000697029 RCV000690283 RCV000701321 RCV000706370 RCV000707398 RCV000821716 RCV000761232 RCV000812806 RCV000807385 RCV000823338 RCV000822121 RCV000804623 RCV000802915 RCV000809260 RCV000810069 RCV000799606 RCV000852303 RCV000990857 RCV000995764 RCV002250713 RCV001067640 RCV001051941 RCV001053348 RCV001070620 RCV001040957 RCV001050766 RCV001213126 RCV001230087 RCV001236250 RCV001291627 RCV001291628	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic	rs727504814, rs397516662	RCV005889692 RCV005889064	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic; Likely pathogenic	rs2147516275, rs1064793106, rs397516662	RCV005912634 RCV005899630 RCV005889065	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tooth agenesis, selective, 2	Pathogenic	rs2520343370	RCV003233055	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tooth agenesis, selective, X-linked, 1	Likely pathogenic; Pathogenic	rs2147516267, rs2147519270, rs876657641, rs879255611, rs879255551, rs132630308, rs132630312, rs132630314, rs132630319, rs132630320, rs132630321, rs1064793104, rs397516654, rs397516659, rs397516665, rs397516668, rs397516679, rs1569272328	RCV005040327 RCV002497951 RCV001248822 RCV000239463 RCV000239506 RCV000763629 RCV000763630 RCV002490354 RCV000011791 RCV000011792 RCV000011795 RCV004787773 RCV005049406 RCV001814027 RCV002482984 RCV005252710 RCV004795956 RCV002466577	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANHYDROTIC ECTODERMAL DYSPLASIAS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asphyxiating thoracic dystrophy 3	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRIST-SIEMENS-TOURAINE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFRONTONASAL DYSPLASIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL ABSENCE OF TOOTH	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ECTODERMAL DYSPLASIA 1, ANHIDROTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOOTH AGENESIS	—	GWAS catalog, GenCC GWAS catalog, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Absent eyebrow	Absent eyebrow	HPO_DG			★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	23622001		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	31607478		★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	30067729	Associate	★☆☆☆☆ Found in Text Mining only
Anhidrosis	Anhidrosis	BEFREE	21357618		★☆☆☆☆ Found in Text Mining only
Anhidrosis	Anhidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anhydrotic Ectodermal Dysplasias	Hypohidrotic ectodermal dysplasia	BEFREE	11591646, 12673367, 18816645, 25758344, 9245989, 9701517		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anhydrotic Ectodermal Dysplasias	Hypohidrotic ectodermal dysplasia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anodontia	Anodontia	Pubtator	18545687, 19623212, 22581971, 23227268, 23991204, 24312213, 24631698, 27049303, 30605838, 31652981, 31914153, 33205897, 33622384, 33943035, 38280992, 39408781	Associate	★☆☆☆☆ Found in Text Mining only
Anodontia of Permanent Dentition	Anodontia	Pubtator	20486090	Associate	★☆☆☆☆ Found in Text Mining only
Anterior hypopituitarism	Hypopituitarism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	26427793, 29326316		★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	10733677	Stimulate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	26427793, 29326316		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	31808007		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Blepharoptosis	Pubtator	33933124	Associate	★☆☆☆☆ Found in Text Mining only
Bloch Sulzberger syndrome	Incontinentia pigmenti syndrome	BEFREE	12042591, 23405946		★☆☆☆☆ Found in Text Mining only
Brachydactyly type A1	Brachydactyly	Pubtator	37108325	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20145163		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31323325	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24631698	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	8705761	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	24578611	Stimulate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30909835		★☆☆☆☆ Found in Text Mining only
Christ-Siemens-Touraine syndrome	Hypohidrotic Ectodermal Dysplasia, X-Linked	UNIPROT_DG	10469321, 10951256, 11279189, 11295832, 11309369, 11343303, 11378824, 11416205, 12225002, 12932274, 17256800, 18231121, 19127222, 19438931, 20486090, 20979233, 22008666, 22350046, 24724966, 27144394, 27657131, 8696334, 9507389, 9630076, 9683615, 9736768		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Christ-Siemens-Touraine syndrome	Hypohidrotic Ectodermal Dysplasia, X-Linked	BEFREE	10473608, 11279189, 11295832, 11343303, 11378824, 11416205, 11591646, 12673367, 12920369, 12927086, 12930312, 1357963, 15663448, 16228229, 17066260, 17478381, 18207244, 18231121, 18666859, 18702659, 18821982, 19127222, 19533784, 19551394, 19623212, 20236127, 20486090, 21724465, 22008666, 23405946, 23626789, 23989902, 24487376, 24508088, 25626993, 25758344, 26345974, 26411740, 26634545, 26829034, 27054699, 27378689, 27411570, 28655773, 28877528, 28981473, 28993958, 29676859, 30006944, 30037996, 30117778, 30276836, 31028034, 31129666, 31241787, 31533624, 9245989, 9630076, 9683615, 9701517, 9758413		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Christ-Siemens-Touraine syndrome	Hypohidrotic Ectodermal Dysplasia, X-Linked	CLINVAR_DG	10951256, 11279189, 11295832, 11309369, 11378824, 11416205, 12949972, 14656435, 15663448, 17970812, 18076698, 18231121, 18386312, 18510547, 18666859, 18821982, 19278982, 19623212, 20236127, 20486090, 20979233, 21357618, 21457804, 22032522, 22428923, 22875504, 23553579, 23744313, 23926003, 23991204, 24312213, 24487376, 24724966, 25333067, 26273176, 26753551, 27054699, 27144394, 27305980, 27657131, 8696334, 9507389, 9630076, 9683615, 9736768		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Christ-Siemens-Touraine syndrome	Hypohidrotic Ectodermal Dysplasia, X-Linked	GENOMICS_ENGLAND_DG	16583127, 9683615		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Christ-Siemens-Touraine syndrome	Hypohidrotic Ectodermal Dysplasia, X-Linked	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Christ-Siemens-Touraine syndrome	Hypohidrotic Ectodermal Dysplasia, X-Linked	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Christ-Siemens-Touraine syndrome	Hypohidrotic Ectodermal Dysplasia, X-Linked	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chromosome 11p11.2 Deletion Syndrome	11p11.2 Deletion Syndrome	BEFREE	26659383		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	31102786		★☆☆☆☆ Found in Text Mining only
Chronic schizophrenia	Schizophrenia	BEFREE	10641584		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	20023414	Associate	★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	29705186		★☆☆☆☆ Found in Text Mining only
Congenital absent nipple	Congenital Absent Nipple	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypotrichia	Congenital Hypotrichia	BEFREE	19533784, 31533624		★☆☆☆☆ Found in Text Mining only
Congenital hypotrichia	Congenital Hypotrichia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital long QT syndrome	Congenital Long QT Syndrome	BEFREE	12775564		★☆☆☆☆ Found in Text Mining only
Craniofrontonasal dysplasia	Craniofrontonasal Dysplasia	BEFREE	17941886		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	28073061		★☆☆☆☆ Found in Text Mining only
Developmental absence of tooth	Anodontia	LHGDN	18821982		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental absence of tooth	Anodontia	BEFREE	20236127, 25203534, 30117778, 30703280		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental absence of tooth	Anodontia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes	Diabetes	BEFREE	26542796		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	26542796		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	8821830		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	BEFREE	11751679, 18510547, 19504606, 20486090, 23401279, 24391090, 28106506, 28782908, 29913094, 30089653, 30117778, 30417976, 30605838		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ectodermal Dysplasia	Ectodermal Dysplasia	LHGDN	12673367, 12920369, 15663448, 17478381, 17970812, 18427821, 18666859, 18821982		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	20486090, 22581971, 27049303, 28944914, 30605838, 30974434, 33933124, 34573371, 35741818, 36939501, 37665136, 39244550	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ectodermal Dysplasia	Ectodermal Dysplasia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ectodermal Dysplasia 1 Anhidrotic	Ectodermal dysplasia	Pubtator	11279189, 11416205, 15373768, 18545687, 19278982, 19623212, 20486090, 20628232, 21696697, 22421994, 23687000, 24312213, 29694819, 30006944, 30067729, 31452656, 31652981, 31796081, 31924237, 32176048, 33205897, 33622384, 34078430, 34479575, 34582123, 36448232, 36672894, 37108325, 38280992, 9507389	Associate	★☆☆☆☆ Found in Text Mining only
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT	Ectodermal dysplasia	BEFREE	16029325, 17478381, 18231121, 19504606, 20236127, 24312213, 24508088, 25626993, 26411740, 27054699, 27378689, 28877528, 29676859, 29855039, 30526585, 31028034, 31241787, 31310406		★☆☆☆☆ Found in Text Mining only
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE	Ectodermal Dysplasia	BEFREE	16029325, 17478381, 18231121, 18666859, 19504606, 19533784, 20236127, 24312213, 24508088, 25626993, 26411740, 27054699, 27378689, 28877528, 28993958, 29676859, 29855039, 30037996, 30526585, 31028034, 31241787, 31310406		★☆☆☆☆ Found in Text Mining only
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT	Ectodermal dysplasia	BEFREE	16029325, 17478381, 18231121, 19504606, 20236127, 24312213, 24508088, 25626993, 26411740, 27054699, 27378689, 28877528, 29676859, 29855039, 30526585, 31028034, 31241787, 31310406		★☆☆☆☆ Found in Text Mining only
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE	Ectodermal dysplasia	BEFREE	16029325, 17478381, 18231121, 18666859, 19504606, 19533784, 20236127, 24312213, 24508088, 25626993, 26411740, 27054699, 27378689, 28877528, 28993958, 29676859, 29855039, 30037996, 30526585, 31028034, 31241787, 31310406		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia Hypohidrotic Autosomal Recessive	Ectodermal dysplasia	Pubtator	21696697, 30974434	Associate	★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive	Ectodermal dysplasia	BEFREE	19551394		★☆☆☆☆ Found in Text Mining only
Ectodermal dysplasia, hypohidrotic, with immune deficiency	Ectodermal Dysplasia	BEFREE	23864385		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	BEFREE	1802404		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	27411570		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	15372454		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	31763999		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	BEFREE	16583127, 18657636, 18688569, 18821982, 19029074, 19278982, 19551394, 21091672, 21098475, 21626677, 23401279, 23625373, 24312213, 24487376, 24702986, 25203534, 25377791, 28553001, 30703280, 31533624		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypodontia	Hypodontia	CLINVAR_DG	19278982, 19623212, 24487376		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypodontia	Hypodontia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypodontia	Hypodontia	ORPHANET_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypohidrosis	Hypohidrosis	BEFREE	28553001		★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of nipple	Hypoplasia Of Nipple	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	BEFREE	19533784, 31533624		★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	27411570		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	15372454		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	12731087		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	2543664	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	35997276	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	20023414		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	20023414	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	20145163		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20023414, 26639577, 9307723, 9714334		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	CTD_human_DG	22535842		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	28073061		★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	BEFREE	30733282		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20023414, 20145163, 21612405, 26639577, 29285230, 31248124		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	31526774		★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	BEFREE	19029074, 19278982, 21098475, 21626677, 24312213, 24487376, 24702986, 25203534, 25377791, 31533624		★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	15589214, 17693991		★☆☆☆☆ Found in Text Mining only
PEELING SKIN SYNDROME	Peeling Skin Syndrome	BEFREE	26659383		★☆☆☆☆ Found in Text Mining only
Peg-shaped teeth	Peg-Shaped Teeth	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Peg-shaped teeth	Peg-Shaped Teeth	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	30733282		★☆☆☆☆ Found in Text Mining only
Proliferative vitreoretinopathy	Proliferative Vitreoretinopathy	BEFREE	21571675		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	10733677		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	10733677	Associate	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	10641584		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	29506626		★☆☆☆☆ Found in Text Mining only
Rhinitis	Rhinitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	10641584		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	10847638		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	26724675	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	31526774		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	26659383		★☆☆☆☆ Found in Text Mining only
Taurodontism	Taurodontism	BEFREE	28813629		★☆☆☆☆ Found in Text Mining only
Taurodontism	Taurodontism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	2543664	Associate	★☆☆☆☆ Found in Text Mining only
Tooth Abnormalities	Tooth abnormalities	Pubtator	37665136	Associate	★☆☆☆☆ Found in Text Mining only
Tooth Agenesis, Selective, X-Linked, 1	Tooth Agenesis, X-Linked	GENOMICS_ENGLAND_DG	16583127		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tooth Agenesis, Selective, X-Linked, 1	Tooth Agenesis, X-Linked	UNIPROT_DG	16583127, 18657636, 19278982, 23603338, 23625373, 24487376, 27144394		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tooth Agenesis, Selective, X-Linked, 1	Tooth Agenesis, X-Linked	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tooth Agenesis, Selective, X-Linked, 1	Tooth Agenesis, X-Linked	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	19623212, 9487109		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	26456754	Associate	★☆☆☆☆ Found in Text Mining only
X-linked hypohidrotic ectodermal dysplasia	Hypohidrotic Ectodermal Dysplasia, X-Linked	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations