EDAR (ectodysplasin A receptor)

Gene

• Entrez ID: 10913
• Gene name: Ectodysplasin A receptor
• Gene symbol: EDAR
• Synonyms (NCBI Gene): DL, ECTD10A, ECTD10B, ED1R, ED3, ED5, EDA-A1R, EDA1R, EDA3, HRM1
• Chromosome: 2
• Chromosome location: 2q13
• Summary: This gene encodes a member of the tumor necrosis factor receptor family. The encoded transmembrane protein is a receptor for the soluble ligand ectodysplasin A, and can activate the nuclear factor-kappaB, JNK, and caspase-independent cell death pathways.

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908450	C>T	Pathogenic	Coding sequence variant, missense variant
rs121908452	G>A	Pathogenic	Stop gained, coding sequence variant
rs121908453	C>T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs121908454	C>T	Pathogenic	Coding sequence variant, missense variant
rs121908455	T>G	Pathogenic	Coding sequence variant, missense variant
rs121908456	C>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs199544410	G>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs368841777	C>T	Pathogenic	Splice donor variant
rs370972367	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs557166582	G>A,T	Likely-pathogenic	Synonymous variant, missense variant, coding sequence variant
rs747806672	C>T	Pathogenic	Missense variant, coding sequence variant
rs749688157	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs757233170	T>C	Likely-pathogenic	Splice acceptor variant
rs773885029	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs777022647	C>T	Pathogenic	Missense variant, coding sequence variant
rs780424781	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs797044435	C>T	Pathogenic	Splice donor variant
rs797044436	TCTT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs797044437	C>T	Pathogenic	Splice donor variant
rs886039348	C>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs886039564	C>T	Pathogenic	Coding sequence variant, missense variant
rs886041005	A>C,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs917638291	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1060499610	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064793107	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793684	AGCCCTG>CGGGCTCCTCATCA	Pathogenic	Inframe indel, coding sequence variant, stop gained
rs1310296844	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1432041144	C>A	Pathogenic	Stop gained, coding sequence variant
rs1553443360	AA>-	Pathogenic	Stop gained, coding sequence variant
rs1553444895	C>T	Likely-pathogenic	Splice donor variant
rs1553445945	C>T	Pathogenic	Splice donor variant
rs1553448320	C>G	Pathogenic	Coding sequence variant, missense variant
rs1558793621	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1558793736	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1558814135	G>AA	Pathogenic	Frameshift variant, coding sequence variant
rs1558814967	AAAGGGGGGTGTTGTGGC>-	Pathogenic	Intron variant
rs1574362082	G>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT498249	hsa-miR-5197-5p	PAR-CLIP	22291592
MIRT498248	hsa-miR-3665	PAR-CLIP	22291592
MIRT498247	hsa-miR-185-5p	PAR-CLIP	22291592
MIRT498246	hsa-miR-4306	PAR-CLIP	22291592
MIRT498245	hsa-miR-4644	PAR-CLIP	22291592
MIRT498244	hsa-miR-5192	PAR-CLIP	22291592
MIRT498243	hsa-miR-1207-5p	PAR-CLIP	22291592
MIRT498242	hsa-miR-4763-3p	PAR-CLIP	22291592
MIRT498241	hsa-miR-4736	PAR-CLIP	22291592
MIRT498240	hsa-miR-6880-5p	PAR-CLIP	22291592
MIRT498239	hsa-miR-7150	PAR-CLIP	22291592
MIRT443000	hsa-miR-3691-3p	PAR-CLIP	22100165
MIRT442998	hsa-miR-4480	PAR-CLIP	22100165
MIRT442999	hsa-miR-5701	PAR-CLIP	22100165
MIRT442997	hsa-miR-3611	PAR-CLIP	22100165
MIRT498249	hsa-miR-5197-5p	PAR-CLIP	22291592
MIRT498248	hsa-miR-3665	PAR-CLIP	22291592
MIRT498247	hsa-miR-185-5p	PAR-CLIP	22291592
MIRT498246	hsa-miR-4306	PAR-CLIP	22291592
MIRT498245	hsa-miR-4644	PAR-CLIP	22291592
MIRT498244	hsa-miR-5192	PAR-CLIP	22291592
MIRT498243	hsa-miR-1207-5p	PAR-CLIP	22291592
MIRT498242	hsa-miR-4763-3p	PAR-CLIP	22291592
MIRT498241	hsa-miR-4736	PAR-CLIP	22291592
MIRT498240	hsa-miR-6880-5p	PAR-CLIP	22291592
MIRT498239	hsa-miR-7150	PAR-CLIP	22291592
MIRT443000	hsa-miR-3691-3p	PAR-CLIP	22100165
MIRT442998	hsa-miR-4480	PAR-CLIP	22100165
MIRT442999	hsa-miR-5701	PAR-CLIP	22100165
MIRT442997	hsa-miR-3611	PAR-CLIP	22100165
MIRT951984	hsa-miR-1343	CLIP-seq
MIRT951985	hsa-miR-142-3p	CLIP-seq
MIRT951986	hsa-miR-23a	CLIP-seq
MIRT951987	hsa-miR-23b	CLIP-seq
MIRT951988	hsa-miR-23c	CLIP-seq
MIRT951989	hsa-miR-3136-3p	CLIP-seq
MIRT951990	hsa-miR-3190	CLIP-seq
MIRT951991	hsa-miR-3192	CLIP-seq
MIRT951992	hsa-miR-3202	CLIP-seq
MIRT951993	hsa-miR-346	CLIP-seq
MIRT951994	hsa-miR-3647-3p	CLIP-seq
MIRT951995	hsa-miR-3689a-3p	CLIP-seq
MIRT951996	hsa-miR-3689c	CLIP-seq
MIRT951997	hsa-miR-3922-5p	CLIP-seq
MIRT951998	hsa-miR-4254	CLIP-seq
MIRT951999	hsa-miR-4286	CLIP-seq
MIRT952000	hsa-miR-4288	CLIP-seq
MIRT952001	hsa-miR-4303	CLIP-seq
MIRT952002	hsa-miR-4493	CLIP-seq
MIRT952003	hsa-miR-4533	CLIP-seq
MIRT952004	hsa-miR-4652-3p	CLIP-seq
MIRT952005	hsa-miR-4682	CLIP-seq
MIRT952006	hsa-miR-4690-3p	CLIP-seq
MIRT952007	hsa-miR-4691-3p	CLIP-seq
MIRT952008	hsa-miR-4717-3p	CLIP-seq
MIRT952009	hsa-miR-4728-5p	CLIP-seq
MIRT952010	hsa-miR-4753-5p	CLIP-seq
MIRT952011	hsa-miR-4761-5p	CLIP-seq
MIRT952012	hsa-miR-4773	CLIP-seq
MIRT952013	hsa-miR-543	CLIP-seq
MIRT952014	hsa-miR-570	CLIP-seq
MIRT952015	hsa-miR-619	CLIP-seq
MIRT952016	hsa-miR-632	CLIP-seq
MIRT952017	hsa-miR-639	CLIP-seq
MIRT1981931	hsa-miR-1260	CLIP-seq
MIRT1981932	hsa-miR-1260b	CLIP-seq
MIRT1981933	hsa-miR-188-3p	CLIP-seq
MIRT1981934	hsa-miR-3156-3p	CLIP-seq
MIRT1981935	hsa-miR-3182	CLIP-seq
MIRT1981936	hsa-miR-412	CLIP-seq
MIRT1981937	hsa-miR-541	CLIP-seq
MIRT1981938	hsa-miR-616	CLIP-seq
MIRT1981939	hsa-miR-654-5p	CLIP-seq
MIRT1981940	hsa-miR-662	CLIP-seq
MIRT1981941	hsa-miR-759	CLIP-seq
MIRT2216797	hsa-miR-15a	CLIP-seq
MIRT2216798	hsa-miR-15b	CLIP-seq
MIRT2216799	hsa-miR-16	CLIP-seq
MIRT2216800	hsa-miR-195	CLIP-seq
MIRT2216801	hsa-miR-3155	CLIP-seq
MIRT2216802	hsa-miR-3155b	CLIP-seq
MIRT2216803	hsa-miR-3913-3p	CLIP-seq
MIRT2216804	hsa-miR-424	CLIP-seq
MIRT2216805	hsa-miR-4291	CLIP-seq
MIRT2216806	hsa-miR-4448	CLIP-seq
MIRT2216807	hsa-miR-484	CLIP-seq
MIRT2216808	hsa-miR-497	CLIP-seq
MIRT2216809	hsa-miR-545	CLIP-seq
MIRT2216810	hsa-miR-579	CLIP-seq
MIRT2448645	hsa-miR-25	CLIP-seq
MIRT2448646	hsa-miR-298	CLIP-seq
MIRT2448647	hsa-miR-32	CLIP-seq
MIRT2448648	hsa-miR-363	CLIP-seq
MIRT2448649	hsa-miR-367	CLIP-seq
MIRT2448650	hsa-miR-3678-3p	CLIP-seq
MIRT2448651	hsa-miR-4307	CLIP-seq
MIRT2448652	hsa-miR-548a-5p	CLIP-seq
MIRT2448653	hsa-miR-548ab	CLIP-seq
MIRT2448654	hsa-miR-548ak	CLIP-seq
MIRT2448655	hsa-miR-548b-5p	CLIP-seq
MIRT2448656	hsa-miR-548c-5p	CLIP-seq
MIRT2448657	hsa-miR-548d-5p	CLIP-seq
MIRT2448658	hsa-miR-548h	CLIP-seq
MIRT2448659	hsa-miR-548i	CLIP-seq
MIRT2448660	hsa-miR-548j	CLIP-seq
MIRT2448661	hsa-miR-548k	CLIP-seq
MIRT2448662	hsa-miR-548l	CLIP-seq
MIRT2448663	hsa-miR-548w	CLIP-seq
MIRT2448664	hsa-miR-548y	CLIP-seq
MIRT2448665	hsa-miR-559	CLIP-seq
MIRT2448666	hsa-miR-92a	CLIP-seq
MIRT2448667	hsa-miR-92b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001942	Process	Hair follicle development	IEA
GO:0004888	Function	Transmembrane signaling receptor activity	IDA	11039935
GO:0004888	Function	Transmembrane signaling receptor activity	NAS	10431241
GO:0005515	Function	Protein binding	IPI	11039935, 27144394, 32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006915	Process	Apoptotic process	IEA
GO:0008544	Process	Epidermis development	IEA
GO:0008544	Process	Epidermis development	TAS	12270937
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	10431241
GO:0019221	Process	Cytokine-mediated signaling pathway	IDA	11039935
GO:0019221	Process	Cytokine-mediated signaling pathway	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0038023	Function	Signaling receptor activity	IBA
GO:0038023	Function	Signaling receptor activity	IEA
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IBA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IEA
GO:0043473	Process	Pigmentation	IEA
GO:0045177	Component	Apical part of cell	IEA
GO:0046330	Process	Positive regulation of JNK cascade	IBA
GO:0046330	Process	Positive regulation of JNK cascade	IEA
GO:0060662	Process	Salivary gland cavitation	IEA
GO:1901224	Process	Positive regulation of non-canonical NF-kappaB signal transduction	IEA

Other IDs

• MIM: 604095
• HGNC: 2895
• e!Ensembl: ENSG00000135960

Protein

• UniProt ID: Q9UNE0
• Protein name: Tumor necrosis factor receptor superfamily member EDAR (Anhidrotic ectodysplasin receptor 1) (Downless homolog) (EDA-A1 receptor) (Ectodermal dysplasia receptor) (Ectodysplasin-A receptor)
• Protein function: Receptor for EDA isoform A1, but not for EDA isoform A2. Mediates the activation of NF-kappa-B and JNK. May promote caspase-independent cell death.
• PDB: 7X9G
• Tissue specificity: TISSUE SPECIFICITY: Detected in fetal kidney, lung, skin and cultured neonatal epidermal keratinocytes. Not detected in lymphoblast and fibroblast cell lines.
• Sequence:

  MAHVGDCTQTPWLPVLVVSLMCSARAEYSNCGENEYYNQTTGLCQECPPCGPGEEPYLSC
  GYGTKDEDYGCVPCPAEKFSKGGYQICRRHKDCEGFFRATVLTPGDMENDAECGPCLPGY
  YMLENRPRNIYGMVCYSCLLAPPNTKECVGATSGASANFPGTSGSSTLSPFQHAHKELSG
  QGHLATALIIAMSTIFIMAIAIVLIIMFYILKTKPSAPACCTSHPGKSVEAQVSKDEEKK
  EAPDNVVMFSEKDEFEKLTATPAKPTKSENDASSENEQLLSRSVDSDEEPAPDKQGSPEL
  CLLSLVHLAREKSATSNKSAGIQSRRKKILDVYANVCGVVEGLSPTELPFDCLEKTSRML
  SSTYNSEKAVVKTWRHLAESFGLKRDEIGGMTDGMQLFDRISTAGYSIPELLTKLVQIER
  LDAVESLCADILEWAGVVPPASQPHAAS

• Sequence length: 448

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
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Likely pathogenic; Pathogenic	rs1696610650, rs1696805635, rs2105390253, rs2105371772, rs2105371643, rs1696608635, rs1696608702, rs2470612697, rs747806672, rs773132518, rs1696610832, rs121908450, rs121908452, rs121908453, rs2470612633, rs886039348, rs886039564, rs1431108613, rs2470612939, rs2470664645, rs2470612948, rs1574368295, rs2470649168, rs2470612710, rs199544410, rs1310296844, rs1553444895, rs1553443360, rs557166582, rs780424781, rs1432041144, rs1558793621, rs757233170, rs1558793736, rs1574362082, rs144473052, rs1696610594, rs755654853, rs1696805876	RCV001337468 RCV001346616 RCV001389203 RCV002000044 RCV001896839 RCV001963574 RCV002294927 RCV002299214 RCV001384049 RCV002664250 RCV002862652 RCV001038628 RCV000532015 RCV001050412 RCV002932627 RCV001068701 RCV001389818 RCV003787927 RCV003808246 RCV003809054 RCV003817706 RCV003809489 RCV003815587 RCV003807500 RCV002231202 RCV002231725 RCV002231724 RCV002234525 RCV000639389 RCV002531420 RCV000689707 RCV002233379 RCV002233266 RCV002233144 RCV002233880 RCV002982504 RCV001058350 RCV001065716 RCV001050481 RCV001223855 RCV002240938 RCV001227034	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ectodermal dysplasia	Likely pathogenic; Pathogenic	rs1558814967, rs797044437, rs1553445945, rs1475705727	RCV006252551 RCV001729338 RCV000613299 RCV001729830	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Likely pathogenic; Pathogenic	rs1696610650, rs1696805635, rs2105390253, rs2105371772, rs2105371643, rs1696608635, rs1696608702, rs2470612697, rs747806672, rs773132518, rs1696610832, rs121908450, rs121908452, rs121908453, rs2470612633, rs886039348, rs886039564, rs886041005, rs1431108613, rs2470612939, rs2470664645, rs2470612948, rs1574368295, rs2470649168, rs2470612710, rs1060499610, rs199544410, rs1310296844, rs1553444895, rs1553443360, rs557166582, rs780424781, rs1432041144, rs1558793621, rs757233170, rs1558793736, rs1574362082, rs144473052, rs1696610594, rs755654853, rs1696805876, rs1697319420, rs550414401	RCV001337468 RCV001346616 RCV001389203 RCV002000044 RCV001896839 RCV001963574 RCV002294927 RCV002299214 RCV001384049 RCV002664250 RCV002862652 RCV001253315 RCV000532015 RCV001050412 RCV002932627 RCV001068701 RCV001389818 RCV000258329 RCV003787927 RCV003808246 RCV003809054 RCV003817706 RCV003809489 RCV003815587 RCV003807500 RCV000477893 RCV002231202 RCV002231725 RCV002231724 RCV002234525 RCV000639389 RCV002531420 RCV000689707 RCV002233379 RCV002233266 RCV002233144 RCV002233880 RCV002982504 RCV001058350 RCV001065716 RCV001050481 RCV001223855 RCV002240938 RCV001227034 RCV001271097 RCV005360006	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant	Likely pathogenic; Pathogenic	rs121908450, rs121908452, rs121908453, rs121908456	RCV000032598 RCV000006210 RCV000006211 RCV000006215	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	Pathogenic; Likely pathogenic	rs747806672, rs1558814967, rs121908450, rs797044435, rs121908454, rs121908455, rs797044436, rs797044437, rs2470665200, rs1553448320, rs557166582, rs1558814135, rs773885029, rs749688157, rs550414401, rs1475705727, rs1697322263, rs1181378221	RCV005208127 RCV000006205 RCV000006206 RCV000006212 RCV000006213 RCV000006214 RCV000006217 RCV000006218 RCV003990586 RCV000626106 RCV001253683 RCV000782363 RCV000782364 RCV001027975 RCV005360006 RCV005629862 RCV001291624 RCV001293769	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	Likely pathogenic; Pathogenic	rs121908453	RCV001334149	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Pathogenic	rs1553444895	RCV005896760	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial DNA depletion syndrome 4b	Likely pathogenic; Pathogenic	rs121908450, rs780424781	RCV000681480 RCV000681479	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-syndromic oligodontia	Pathogenic	rs121908452, rs1482191386	RCV001261883 RCV001261882	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oligodontia	Likely pathogenic	rs1475705727	RCV001267873	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive sclerosing poliodystrophy	Likely pathogenic; Pathogenic	rs121908450, rs780424781	RCV000681480 RCV000681479	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA	—	GenCC, Orphanet GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE HYPOHIDROTIC ECTODERMAL DYSPLASIA	—	GenCC, Orphanet GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRIST-SIEMENS-TOURAINE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ECTODERMAL DYSPLASIA 3, ANHIDROTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL RECESSIVE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EDAR-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HAIR MORPHOLOGY 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hair morphology 1, hair thickness	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypohidrotic ectodermal dysplasia	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypohidrotic Ectodermal Dysplasia, Dominant	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	29246834		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alopecia, Androgenetic, 1	Androgenetic Alopecia	GWASCAT_DG	27182965		★☆☆☆☆ Found in Text Mining only
Alopecia, Androgenetic, 2	Androgenetic Alopecia	GWASCAT_DG	27182965		★☆☆☆☆ Found in Text Mining only
Alopecia, Androgenetic, 3	Androgenetic Alopecia	GWASCAT_DG	27182965		★☆☆☆☆ Found in Text Mining only
Alopecia, Male Pattern	Alopecia, Male Pattern	GWASCAT_DG	27182965		★☆☆☆☆ Found in Text Mining only
Alpers Syndrome (disorder)	Alpers Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	27834776		★☆☆☆☆ Found in Text Mining only
Androgenetic Alopecia	Androgenetic Alopecia	GWASCAT_DG	27182965		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anhidrosis	Anhidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anhydrotic Ectodermal Dysplasias	Hypohidrotic ectodermal dysplasia	BEFREE	12060722, 15013427, 29855541		★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	22581971, 23549991, 23991204, 24884697, 28808699, 31652981, 33205897, 33943035	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal dominant hypohidrotic ectodermal dysplasia	Hypohidrotic ectodermal dysplasia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder)	Hypohidrotic Ectodermal Dysplasia, X-Linked	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Autosomal recessive hypohidrotic ectodermal dysplasia	Hypohidrotic ectodermal dysplasia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	20145163		★☆☆☆☆ Found in Text Mining only
Christ-Siemens-Touraine syndrome	Hypohidrotic Ectodermal Dysplasia, X-Linked	BEFREE	12060722, 15013427, 16435307, 17125505, 18231121, 19504606, 19551394, 20236127, 21332691, 21724465, 21876339, 22032522, 24884697, 26336973, 29855541, 31245878		★★☆☆☆ 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
Dementia	Dementia	BEFREE	28984585, 28984603		★☆☆☆☆ Found in Text Mining only
Dental Caries	Dental caries	Pubtator	24884697	Associate	★☆☆☆☆ Found in Text Mining only
Developmental absence of tooth	Anodontia	BEFREE	20236127, 24884697		★☆☆☆☆ Found in Text Mining only
Developmental absence of tooth	Anodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	34618839	Associate	★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	BEFREE	15958791, 23401279, 26336973, 30089653		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ectodermal Dysplasia	Ectodermal Dysplasia	CLINVAR_DG	16435307		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ectodermal Dysplasia	Ectodermal Dysplasia	LHGDN	17501952, 17970812, 18231121		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	18854857, 22581971, 26336973, 30974434, 34573371, 39244550	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ectodermal Dysplasia	Ectodermal Dysplasia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ectodermal Dysplasia 1 Anhidrotic	Ectodermal dysplasia	Pubtator	15373768, 17125505, 19804850, 24884697, 31452656, 31652981, 33205897, 36448232, 39476951	Associate	★☆☆☆☆ Found in Text Mining only
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT	Ectodermal dysplasia	CLINVAR_DG	10431241, 16435307, 18231121, 22032522		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT	Ectodermal dysplasia	UNIPROT_DG	10431241, 18231121		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT	Ectodermal dysplasia	BEFREE	15373768, 16029325, 16435307, 17125505, 18231121, 19504606, 19551394, 20236127, 27305980, 30623979, 31245878, 31310406		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT	Ectodermal dysplasia	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE	Ectodermal Dysplasia	CLINVAR_DG	10431241, 16029325, 17125505, 20979233, 22032522, 23401279, 24641098, 24884697, 26336973, 27305980		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE	Ectodermal Dysplasia	UNIPROT_DG	10431241, 15373768, 16029325, 16435307, 18231121, 19438931, 20979233, 27657131		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE	Ectodermal Dysplasia	BEFREE	15373768, 16029325, 16435307, 17125505, 18231121, 19504606, 19551394, 20236127, 27305980, 30623979, 31245878, 31310406		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE	Ectodermal Dysplasia	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT	Ectodermal dysplasia	CLINVAR_DG	10431241, 20979233, 23401279, 24641098		★☆☆☆☆ Found in Text Mining only
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT	Ectodermal dysplasia	BEFREE	15373768, 16029325, 16435307, 17125505, 18231121, 19504606, 19551394, 20236127, 27305980, 30623979, 31245878, 31310406		★☆☆☆☆ Found in Text Mining only
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE	Ectodermal dysplasia	BEFREE	15373768, 16029325, 16435307, 17125505, 18231121, 19504606, 19551394, 20236127, 27305980, 30623979, 31245878, 31310406		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ectodermal Dysplasia 3 Anhidrotic	Ectodermal dysplasia	Pubtator	17125505, 9545409	Associate	★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia 3, Anhidrotic	Ectodermal Dysplasia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectodermal Dysplasia Hypohidrotic Autosomal Recessive	Ectodermal dysplasia	Pubtator	30974434	Associate	★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive	Ectodermal dysplasia	BEFREE	16029325, 18816645, 19551394, 20033817, 20199431, 21332691, 21771270, 24764207, 31310406		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive	Ectodermal dysplasia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive	Ectodermal dysplasia	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eczema	Eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	BEFREE	19551394, 21091672, 21626677, 23401279, 23991204, 31533624		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of teeth	Hypoplasia of teeth	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	18854857	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	20145163		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	29855541		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Metabolic Syndrome	Metabolic syndrome	Pubtator	34618839	Associate	★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	28984603		★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)	Mitochondrial DNA Depletion Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9	Nail Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nail dysplasia	Nail dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	26738743	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29855541		★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	BEFREE	21626677, 31533624		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	36421794	Associate	★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	28984585, 28984603		★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	29885947	Associate	★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	26724675	Associate	★☆☆☆☆ Found in Text Mining only