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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10913
Gene name	Ectodysplasin A receptor
Gene symbol	EDAR
Synonyms (NCBI Gene)	DLECTD10AECTD10BED1RED3ED5EDA-A1REDA1REDA3HRM1
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.

Show/Hide all (37)

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

112

Show/Hide all (112)

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

Show/Hide all (27)

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

MIM	HGNC	e!Ensembl
604095	2895	ENSG00000135960

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

Family and domains

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

Interactions

View interactions

	KEGG		Reactome
	Cytokine-cytokine receptor interaction NF-kappa B signaling pathway		TNFs bind their physiological receptors

585

Show/Hide Causal Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Likely pathogenic; Pathogenic	rs1696610650, rs1696805635, rs2105390253, rs2105371772, rs2105371643, rs1696608635, rs1696608702, rs2470612697, rs747806672, rs773132518, rs1696610832, rs121908450, rs121908452, rs121908453, rs2470612633 View all (24 more)	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
Ectodermal dysplasia	Likely pathogenic; Pathogenic	rs1558814967, rs797044437, rs1553445945, rs1475705727	RCV006252551 RCV001729338 RCV000613299 RCV001729830
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 View all (28 more)	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
Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant	Likely pathogenic; Pathogenic	rs121908450, rs121908452, rs121908453, rs121908456	RCV000032598 RCV000006210 RCV000006211 RCV000006215
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 View all (3 more)	RCV005208127 RCV000006205 RCV000006206 RCV000006212 RCV000006213 RCV000006214 RCV000006217 RCV000006218 RCV003990586 RCV000626106 RCV001253683 RCV000782363 RCV000782364 RCV001027975 RCV005360006 RCV005629862 RCV001291624 RCV001293769
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	Likely pathogenic; Pathogenic	rs121908453	RCV001334149
Melanoma	Pathogenic	rs1553444895	RCV005896760
Mitochondrial DNA depletion syndrome 4b	Likely pathogenic; Pathogenic	rs121908450, rs780424781	RCV000681480 RCV000681479
Non-syndromic oligodontia	Pathogenic	rs121908452, rs1482191386	RCV001261883 RCV001261882
Oligodontia	Likely pathogenic	rs1475705727	RCV001267873
Progressive sclerosing poliodystrophy	Likely pathogenic; Pathogenic	rs121908450, rs780424781	RCV000681480 RCV000681479

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign; Likely benign	rs114808659, rs775893324	RCV005916875 RCV005934905
Colon adenocarcinoma	Benign	rs114808659	RCV005916874
Colorectal cancer	Benign; Likely benign	rs748225	RCV005888551
EDAR-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	rs2105371700, rs760731007, rs1294790173, rs192939679, rs1293210073, rs1231995132, rs145518416, rs201539805	RCV005863677 RCV003950136 RCV003898926 RCV003931829 RCV003981513 RCV003949189 RCV003955685 RCV003945846
HAIR MORPHOLOGY 1	Benign; Likely benign	rs3749099, rs3749108	RCV002500918 RCV002497120
Hair morphology 1, hair thickness	Benign	rs3827760	RCV000006216
Hypohidrotic ectodermal dysplasia	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs7607563, rs12623957, rs260632, rs748225, rs3827760, rs146567337, rs3749099, rs79648056, rs61761321, rs370972367, rs10432616, rs748806220, rs200762071, rs886054737, rs886054740 View all (82 more)	RCV001130990 RCV001133946 RCV001130391 RCV001131114 RCV001133945 RCV001133944 RCV001135449 RCV001130387 RCV001134059 RCV001131113 RCV001135448 RCV001134061 RCV001135183 RCV001130142 RCV001133820 RCV001133822 RCV001135312 RCV001130273 RCV001130989 RCV001133941 RCV001131109 RCV001135311 RCV001135314 RCV001130276 RCV001130985 RCV001134064 RCV001135566 RCV001135571 RCV001135572 RCV001130849 RCV001135315 RCV001135318 RCV001130274 RCV001133940 RCV001135452 RCV001134066 RCV001135565 RCV001135568 RCV001135570 RCV001130501 RCV001135177 RCV001130847 RCV001130853 RCV001133819 RCV001133824 RCV001131110 RCV001130500 RCV001131107 RCV001130388 RCV001130392 RCV001133942 RCV001135447 RCV001134060 RCV001130389 RCV001135178 RCV001135179 RCV001135180 RCV001135181 RCV001135182 RCV001130140 RCV001130141 RCV001130143 RCV001130144 RCV001130145 RCV001130146 RCV001130848 RCV001130850 RCV001130851 RCV001130852 RCV001130854 RCV001133821 RCV001133823 RCV001133825 RCV001135313 RCV001135316 RCV001135317 RCV001130271 RCV001130272 RCV001130275 RCV001130277 RCV001130278 RCV001130983 RCV001130984 RCV001130986 RCV001130987 RCV001130988 RCV001135446 RCV001135450 RCV001135451 RCV001131108 RCV001131111 RCV001131112 RCV001134062 RCV001134065 RCV001135569 RCV001130502 RCV001130393 RCV001135567
Hypohidrotic Ectodermal Dysplasia, Dominant	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs7607563, rs12623957, rs260632, rs748225, rs3827760, rs79648056, rs61761321, rs200762071, rs886054737, rs886054740, rs886054741, rs10206737, rs781048595, rs768401042, rs537348349 View all (37 more)	RCV000367811 RCV000269800 RCV000285005 RCV000285838 RCV000382959 RCV000384066 RCV000336113 RCV000354350 RCV000319542 RCV000289274 RCV000344375 RCV000340908 RCV000408038 RCV000330847 RCV000333021 RCV000339609 RCV000323046 RCV000290599 RCV000398662 RCV000356492 RCV000261676 RCV000390480 RCV000400452 RCV000269998 RCV000306432 RCV000321533 RCV000376110 RCV000267918 RCV000323109 RCV000292826 RCV000305290 RCV000359988 RCV000296925 RCV000277963 RCV000329517 RCV000301138 RCV000337432 RCV000314672 RCV000369335 RCV000271005 RCV000357958 RCV000268013 RCV000259723 RCV000374162 RCV000333860 RCV000388221 RCV000400545 RCV000380246 RCV000365659 RCV000376277 RCV001133943 RCV001130390
Lung cancer	Benign	rs114808659	RCV005916878
Ovarian serous cystadenocarcinoma	Benign	rs114808659	RCV005916877
Sarcoma	Benign	rs114808659	RCV005916876
Thymoma	Benign; Likely benign	rs748225	RCV005888552
Uterine corpus endometrial carcinoma	Benign	rs114808659	RCV005916879

Show/Hide Text Mining Associations (28)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	29246834
Anodontia	Associate	22581971, 23549991, 23991204, 24884697, 28808699, 31652981, 33205897, 33943035
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	35749392
Conjunctivitis Allergic	Inhibit	38064228
Deafness oligodontia syndrome	Associate	34593752
Dental Caries	Associate	24884697
Diabetes Mellitus	Associate	34618839
Disease	Associate	35749392
Ectodermal Dysplasia	Associate	18854857, 22581971, 26336973, 30974434, 34573371, 39244550
Ectodermal Dysplasia 1 Anhidrotic	Associate	15373768, 17125505, 19804850, 24884697, 31452656, 31652981, 33205897, 36448232, 39476951
Ectodermal Dysplasia 3 Anhidrotic	Associate	17125505, 9545409
Ectodermal Dysplasia Hypohidrotic Autosomal Recessive	Associate	30974434
Fibula Fractures	Associate	26336973
Hair Diseases	Associate	26336973
Hereditary renal agenesis	Associate	39476951
Intellectual Disability	Associate	18854857
Metabolic Syndrome	Associate	34618839
Nail Diseases	Associate	36421794
Nails Malformed	Associate	36421794
Nasopharyngeal Carcinoma	Associate	26738743
Neural crest tumor	Associate	31796081
Osteogenesis Imperfecta	Associate	36421794
Prediabetic State	Associate	34618839
Sepsis	Associate	29885947
Sjogren's Syndrome	Associate	26724675
Skin Hair Eye Pigmentation Variation In 6	Associate	21712187
Sweat Gland Diseases	Associate	24884697
Systemic Inflammatory Response Syndrome	Associate	29885947

EDAR (ectodysplasin A receptor)