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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	30844
Gene name	EH domain containing 4
Gene symbol	EHD4
Synonyms (NCBI Gene)	PAST4
Chromosome	15
Chromosome location	15q15.1

263

Show/Hide all (263)

miRTarBase ID	miRNA	Experiments	Reference
MIRT032472	hsa-let-7b-5p	Proteomics	18668040
MIRT047751	hsa-miR-10a-5p	CLASH	23622248
MIRT668615	hsa-miR-508-5p	HITS-CLIP	23313552
MIRT668614	hsa-miR-1273g-3p	HITS-CLIP	23313552
MIRT668613	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT668609	hsa-miR-6742-3p	HITS-CLIP	23313552
MIRT668608	hsa-miR-766-3p	HITS-CLIP	23313552
MIRT668607	hsa-miR-4793-3p	HITS-CLIP	23313552
MIRT668606	hsa-miR-6776-5p	HITS-CLIP	23313552
MIRT635997	hsa-miR-617	HITS-CLIP	23313552
MIRT704003	hsa-miR-5186	HITS-CLIP	23313552
MIRT668605	hsa-miR-4252	HITS-CLIP	23313552
MIRT635996	hsa-miR-542-3p	HITS-CLIP	23313552
MIRT668603	hsa-miR-6512-3p	HITS-CLIP	23313552
MIRT668602	hsa-miR-6720-5p	HITS-CLIP	23313552
MIRT635995	hsa-miR-7111-3p	HITS-CLIP	23313552
MIRT635994	hsa-miR-6780a-3p	HITS-CLIP	23313552
MIRT635993	hsa-miR-6881-3p	HITS-CLIP	23313552
MIRT668601	hsa-miR-7703	HITS-CLIP	23313552
MIRT635992	hsa-miR-1262	HITS-CLIP	23313552
MIRT635991	hsa-miR-4701-3p	HITS-CLIP	23313552
MIRT635990	hsa-miR-6736-5p	HITS-CLIP	23313552
MIRT668615	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT668614	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT668613	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT668612	hsa-miR-3183	HITS-CLIP	23824327
MIRT668611	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT668610	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT668609	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT668608	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT668607	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT668606	hsa-miR-6776-5p	HITS-CLIP	23824327
MIRT635997	hsa-miR-617	HITS-CLIP	23824327
MIRT668605	hsa-miR-4252	HITS-CLIP	23824327
MIRT668604	hsa-miR-661	HITS-CLIP	23824327
MIRT635996	hsa-miR-542-3p	HITS-CLIP	23824327
MIRT668603	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT668602	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT635995	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT635994	hsa-miR-6780a-3p	HITS-CLIP	23824327
MIRT635993	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT668601	hsa-miR-7703	HITS-CLIP	23824327
MIRT635992	hsa-miR-1262	HITS-CLIP	23824327
MIRT635991	hsa-miR-4701-3p	HITS-CLIP	23824327
MIRT635990	hsa-miR-6736-5p	HITS-CLIP	23824327
MIRT636004	hsa-miR-8063	HITS-CLIP	23824327
MIRT636003	hsa-miR-4698	HITS-CLIP	23824327
MIRT636002	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT636001	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT635999	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT636000	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT635998	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT635997	hsa-miR-617	HITS-CLIP	23824327
MIRT635996	hsa-miR-542-3p	HITS-CLIP	23824327
MIRT635995	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT635994	hsa-miR-6780a-3p	HITS-CLIP	23824327
MIRT635993	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT635992	hsa-miR-1262	HITS-CLIP	23824327
MIRT635991	hsa-miR-4701-3p	HITS-CLIP	23824327
MIRT635990	hsa-miR-6736-5p	HITS-CLIP	23824327
MIRT635989	hsa-miR-580-5p	HITS-CLIP	23824327
MIRT635987	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT635988	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT635986	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT635985	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT498436	hsa-miR-651-3p	PAR-CLIP	22291592
MIRT498435	hsa-miR-3940-3p	PAR-CLIP	22291592
MIRT635992	hsa-miR-1262	HITS-CLIP	27418678
MIRT668614	hsa-miR-1273g-3p	HITS-CLIP	27418678
MIRT668605	hsa-miR-4252	HITS-CLIP	27418678
MIRT635991	hsa-miR-4701-3p	HITS-CLIP	27418678
MIRT668607	hsa-miR-4793-3p	HITS-CLIP	27418678
MIRT668615	hsa-miR-508-5p	HITS-CLIP	27418678
MIRT635996	hsa-miR-542-3p	HITS-CLIP	27418678
MIRT635997	hsa-miR-617	HITS-CLIP	27418678
MIRT668603	hsa-miR-6512-3p	HITS-CLIP	27418678
MIRT668604	hsa-miR-661	HITS-CLIP	27418678
MIRT668602	hsa-miR-6720-5p	HITS-CLIP	27418678
MIRT635990	hsa-miR-6736-5p	HITS-CLIP	27418678
MIRT668609	hsa-miR-6742-3p	HITS-CLIP	27418678
MIRT668606	hsa-miR-6776-5p	HITS-CLIP	27418678
MIRT668613	hsa-miR-6849-3p	HITS-CLIP	27418678
MIRT668608	hsa-miR-766-3p	HITS-CLIP	27418678
MIRT668601	hsa-miR-7703	HITS-CLIP	27418678
MIRT668615	hsa-miR-508-5p	HITS-CLIP	23313552
MIRT668614	hsa-miR-1273g-3p	HITS-CLIP	23313552
MIRT668613	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT668609	hsa-miR-6742-3p	HITS-CLIP	23313552
MIRT668608	hsa-miR-766-3p	HITS-CLIP	23313552
MIRT668607	hsa-miR-4793-3p	HITS-CLIP	23313552
MIRT668606	hsa-miR-6776-5p	HITS-CLIP	23313552
MIRT635997	hsa-miR-617	HITS-CLIP	23313552
MIRT704003	hsa-miR-5186	HITS-CLIP	23313552
MIRT668605	hsa-miR-4252	HITS-CLIP	23313552
MIRT635996	hsa-miR-542-3p	HITS-CLIP	23313552
MIRT668603	hsa-miR-6512-3p	HITS-CLIP	23313552
MIRT668602	hsa-miR-6720-5p	HITS-CLIP	23313552
MIRT635995	hsa-miR-7111-3p	HITS-CLIP	23313552
MIRT635994	hsa-miR-6780a-3p	HITS-CLIP	23313552
MIRT635993	hsa-miR-6881-3p	HITS-CLIP	23313552
MIRT668601	hsa-miR-7703	HITS-CLIP	23313552
MIRT635992	hsa-miR-1262	HITS-CLIP	23313552
MIRT635991	hsa-miR-4701-3p	HITS-CLIP	23313552
MIRT635990	hsa-miR-6736-5p	HITS-CLIP	23313552
MIRT668615	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT668614	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT668613	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT668612	hsa-miR-3183	HITS-CLIP	23824327
MIRT668611	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT668610	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT668609	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT668608	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT668607	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT668606	hsa-miR-6776-5p	HITS-CLIP	23824327
MIRT635997	hsa-miR-617	HITS-CLIP	23824327
MIRT668605	hsa-miR-4252	HITS-CLIP	23824327
MIRT668604	hsa-miR-661	HITS-CLIP	23824327
MIRT635996	hsa-miR-542-3p	HITS-CLIP	23824327
MIRT668603	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT668602	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT635995	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT635994	hsa-miR-6780a-3p	HITS-CLIP	23824327
MIRT635993	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT668601	hsa-miR-7703	HITS-CLIP	23824327
MIRT635992	hsa-miR-1262	HITS-CLIP	23824327
MIRT635991	hsa-miR-4701-3p	HITS-CLIP	23824327
MIRT635990	hsa-miR-6736-5p	HITS-CLIP	23824327
MIRT636004	hsa-miR-8063	HITS-CLIP	23824327
MIRT636003	hsa-miR-4698	HITS-CLIP	23824327
MIRT636002	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT636001	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT635999	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT636000	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT635998	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT635997	hsa-miR-617	HITS-CLIP	23824327
MIRT635996	hsa-miR-542-3p	HITS-CLIP	23824327
MIRT635995	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT635994	hsa-miR-6780a-3p	HITS-CLIP	23824327
MIRT635993	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT635992	hsa-miR-1262	HITS-CLIP	23824327
MIRT635991	hsa-miR-4701-3p	HITS-CLIP	23824327
MIRT635990	hsa-miR-6736-5p	HITS-CLIP	23824327
MIRT635989	hsa-miR-580-5p	HITS-CLIP	23824327
MIRT635987	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT635988	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT635986	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT635985	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT498436	hsa-miR-651-3p	PAR-CLIP	22291592
MIRT498435	hsa-miR-3940-3p	PAR-CLIP	22291592
MIRT955511	hsa-miR-1197	CLIP-seq
MIRT955512	hsa-miR-1206	CLIP-seq
MIRT955513	hsa-miR-1224-5p	CLIP-seq
MIRT955514	hsa-miR-1287	CLIP-seq
MIRT955515	hsa-miR-298	CLIP-seq
MIRT955516	hsa-miR-3135b	CLIP-seq
MIRT955517	hsa-miR-3145-3p	CLIP-seq
MIRT955518	hsa-miR-3155	CLIP-seq
MIRT955519	hsa-miR-3155b	CLIP-seq
MIRT955520	hsa-miR-3158-5p	CLIP-seq
MIRT955521	hsa-miR-3194-3p	CLIP-seq
MIRT955522	hsa-miR-3657	CLIP-seq
MIRT955523	hsa-miR-3918	CLIP-seq
MIRT955524	hsa-miR-433	CLIP-seq
MIRT955525	hsa-miR-4418	CLIP-seq
MIRT955526	hsa-miR-4428	CLIP-seq
MIRT955527	hsa-miR-4452	CLIP-seq
MIRT955528	hsa-miR-4662a-3p	CLIP-seq
MIRT955529	hsa-miR-4669	CLIP-seq
MIRT955530	hsa-miR-4671-5p	CLIP-seq
MIRT955531	hsa-miR-4704-5p	CLIP-seq
MIRT955532	hsa-miR-4715-3p	CLIP-seq
MIRT955533	hsa-miR-4735-5p	CLIP-seq
MIRT955534	hsa-miR-4751	CLIP-seq
MIRT955535	hsa-miR-4775	CLIP-seq
MIRT955536	hsa-miR-484	CLIP-seq
MIRT955537	hsa-miR-509-3-5p	CLIP-seq
MIRT955538	hsa-miR-509-5p	CLIP-seq
MIRT955539	hsa-miR-520a-5p	CLIP-seq
MIRT955540	hsa-miR-525-5p	CLIP-seq
MIRT955541	hsa-miR-590-3p	CLIP-seq
MIRT955542	hsa-miR-603	CLIP-seq
MIRT955543	hsa-miR-605	CLIP-seq
MIRT955544	hsa-miR-769-5p	CLIP-seq
MIRT1548243	hsa-miR-3148	CLIP-seq
MIRT955513	hsa-miR-1224-5p	CLIP-seq
MIRT1982984	hsa-miR-124	CLIP-seq
MIRT1982985	hsa-miR-1273g	CLIP-seq
MIRT1982986	hsa-miR-1298	CLIP-seq
MIRT1982987	hsa-miR-1343	CLIP-seq
MIRT1982988	hsa-miR-139-5p	CLIP-seq
MIRT1982989	hsa-miR-1914	CLIP-seq
MIRT1982990	hsa-miR-2110	CLIP-seq
MIRT1982991	hsa-miR-3199	CLIP-seq
MIRT1982992	hsa-miR-34a	CLIP-seq
MIRT1982993	hsa-miR-34c-5p	CLIP-seq
MIRT1982994	hsa-miR-3612	CLIP-seq
MIRT1982995	hsa-miR-3616-3p	CLIP-seq
MIRT1982996	hsa-miR-4271	CLIP-seq
MIRT1982997	hsa-miR-4303	CLIP-seq
MIRT1982998	hsa-miR-4436b-3p	CLIP-seq
MIRT1982999	hsa-miR-4459	CLIP-seq
MIRT1983000	hsa-miR-449a	CLIP-seq
MIRT1983001	hsa-miR-449b	CLIP-seq
MIRT1983002	hsa-miR-4514	CLIP-seq
MIRT1983003	hsa-miR-4520a-3p	CLIP-seq
MIRT1983004	hsa-miR-4520b-3p	CLIP-seq
MIRT1983005	hsa-miR-4529-3p	CLIP-seq
MIRT1983006	hsa-miR-4645-5p	CLIP-seq
MIRT1983007	hsa-miR-4649-3p	CLIP-seq
MIRT1983008	hsa-miR-4673	CLIP-seq
MIRT1983009	hsa-miR-4692	CLIP-seq
MIRT1983010	hsa-miR-4695-5p	CLIP-seq
MIRT1983011	hsa-miR-4725-3p	CLIP-seq
MIRT955534	hsa-miR-4751	CLIP-seq
MIRT1983012	hsa-miR-4753-3p	CLIP-seq
MIRT1983013	hsa-miR-506	CLIP-seq
MIRT1983014	hsa-miR-515-3p	CLIP-seq
MIRT1983015	hsa-miR-519e	CLIP-seq
MIRT1983016	hsa-miR-650	CLIP-seq
MIRT1983017	hsa-miR-665	CLIP-seq
MIRT1983018	hsa-miR-9	CLIP-seq
MIRT2217929	hsa-miR-2467-3p	CLIP-seq
MIRT955520	hsa-miR-3158-5p	CLIP-seq
MIRT2217930	hsa-miR-3678-3p	CLIP-seq
MIRT2217931	hsa-miR-3919	CLIP-seq
MIRT2217932	hsa-miR-3925-5p	CLIP-seq
MIRT955525	hsa-miR-4418	CLIP-seq
MIRT1983003	hsa-miR-4520a-3p	CLIP-seq
MIRT1983004	hsa-miR-4520b-3p	CLIP-seq
MIRT1983005	hsa-miR-4529-3p	CLIP-seq
MIRT2217933	hsa-miR-4776-3p	CLIP-seq
MIRT955537	hsa-miR-509-3-5p	CLIP-seq
MIRT955538	hsa-miR-509-5p	CLIP-seq
MIRT1983018	hsa-miR-9	CLIP-seq
MIRT2387298	hsa-miR-1324	CLIP-seq
MIRT2217929	hsa-miR-2467-3p	CLIP-seq
MIRT2387299	hsa-miR-3126-5p	CLIP-seq
MIRT955520	hsa-miR-3158-5p	CLIP-seq
MIRT2217930	hsa-miR-3678-3p	CLIP-seq
MIRT2217931	hsa-miR-3919	CLIP-seq
MIRT2217932	hsa-miR-3925-5p	CLIP-seq
MIRT955525	hsa-miR-4418	CLIP-seq
MIRT955537	hsa-miR-509-3-5p	CLIP-seq
MIRT955538	hsa-miR-509-5p	CLIP-seq
MIRT1983003	hsa-miR-4520a-3p	CLIP-seq
MIRT1983004	hsa-miR-4520b-3p	CLIP-seq
MIRT1983005	hsa-miR-4529-3p	CLIP-seq
MIRT1983012	hsa-miR-4753-3p	CLIP-seq
MIRT1983018	hsa-miR-9	CLIP-seq
MIRT1983003	hsa-miR-4520a-3p	CLIP-seq
MIRT1983004	hsa-miR-4520b-3p	CLIP-seq
MIRT1983005	hsa-miR-4529-3p	CLIP-seq
MIRT1983012	hsa-miR-4753-3p	CLIP-seq
MIRT1983018	hsa-miR-9	CLIP-seq
MIRT2448721	hsa-miR-145	CLIP-seq
MIRT2448722	hsa-miR-1825	CLIP-seq
MIRT2448723	hsa-miR-199a-5p	CLIP-seq
MIRT2448724	hsa-miR-199b-5p	CLIP-seq
MIRT2448725	hsa-miR-3180-5p	CLIP-seq
MIRT955526	hsa-miR-4428	CLIP-seq
MIRT955532	hsa-miR-4715-3p	CLIP-seq
MIRT955544	hsa-miR-769-5p	CLIP-seq
MIRT955528	hsa-miR-4662a-3p	CLIP-seq

Show/Hide all (45)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0002042	Process	Cell migration involved in sprouting angiogenesis	IEA
GO:0002042	Process	Cell migration involved in sprouting angiogenesis	ISS
GO:0002042	Process	Cell migration involved in sprouting angiogenesis	ISS
GO:0003676	Function	Nucleic acid binding	TAS	10673336
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	17233914, 19864458, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005525	Function	GTP binding	IEA
GO:0005634	Component	Nucleus	TAS	10673336
GO:0005737	Component	Cytoplasm	IBA
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005912	Component	Adherens junction	IEA
GO:0005912	Component	Adherens junction	IEA
GO:0005912	Component	Adherens junction	ISS
GO:0006897	Process	Endocytosis	IBA
GO:0006907	Process	Pinocytosis	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0030100	Process	Regulation of endocytosis	IEA
GO:0030139	Component	Endocytic vesicle	IBA
GO:0030674	Function	Protein-macromolecule adaptor activity	IBA
GO:0030674	Function	Protein-macromolecule adaptor activity	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	ISS
GO:0031901	Component	Early endosome membrane	IEA
GO:0032456	Process	Endocytic recycling	IBA
GO:0032456	Process	Endocytic recycling	IEA
GO:0032456	Process	Endocytic recycling	IGI	17233914
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IBA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0051260	Process	Protein homooligomerization	IPI	17233914
GO:0055038	Component	Recycling endosome membrane	IBA
GO:0055038	Component	Recycling endosome membrane	IDA	17233914
GO:0055038	Component	Recycling endosome membrane	IEA
GO:0060271	Process	Cilium assembly	IBA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337, 23533145
GO:0070161	Component	Anchoring junction	IEA
GO:0071363	Process	Cellular response to growth factor stimulus	IEA
GO:0072659	Process	Protein localization to plasma membrane	IBA

MIM	HGNC	e!Ensembl
605892	3245	ENSG00000103966

Q9H223

Protein name

EH domain-containing protein 4 (Hepatocellular carcinoma-associated protein 10/11) (PAST homolog 4)

Protein function

ATP- and membrane-binding protein that probably controls membrane reorganization/tubulation upon ATP hydrolysis. Plays a role in early endosomal transport (PubMed:17233914, PubMed:18331452). During sprouting angiogenesis, in complex with PACSIN2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16880	EHD_N	27 → 59	N-terminal EH-domain containing protein	Family
PF00350	Dynamin_N	64 → 224	Dynamin family	Domain
PF18150	DUF5600	291 → 397	Domain of unknown function (DUF5600)	Domain
PF12763	EF-hand_4	440 → 540	Cytoskeletal-regulatory complex EF hand	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in pancreas and heart. {ECO:0000269|PubMed:10673336}.

Sequence

MFSWMGRQAGGRERAGGADAVQTVTGGLRSLYLRKVLPLEEAYRFHEFHSPALEDADFEN
KPMILLVGQYSTGKTTFIRYLLEQDFPGMRIGPEPTTDSFIAVMYGETEGSTPGNALVVD
PKKPFRKLSRFGNAFLNRFMCSQLPNQVLKSISVIDSPGILSGEKQRISRGYDFCQVLQW
FAERVDRIILLFDAHKLDISDEFSEAIKAFRGQDDKIRVVLNKADQVDTQQLMRVYGALM
WSLGKVINTPEVLRVYIGSFWAQPLQNTDNRRLFEAEAQDLFRDIQSLPQKAAVRKLNDL
IKRARLAKVHAYIISYLKKEMPSVFGKENKKRELISRLPEIYIQLQREYQISAGDFPEVK
AMQEQLENYDFTKFHSLKPKLIEAVDNMLSNKISPLMNLISQEETSTPTQLVQGGAFDGT
TEGPFNQGYGEGAKEGADEEEWVVAKDKPVYDELFYTLSPINGKISGVNAKKEMVTSKLP
NSVLGKIWKLADCDCDGMLDEEEFALAKHLIKIKLDGYELPSSLPPHLVPPSHRKSLPKA
D

Sequence length

541

Interactions

View interactions

	KEGG
	Endocytosis

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)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
PROGRESSIVE SUPRANUCLEAR PALSY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (4)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	37925455	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	31465112		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	27454520	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Supranuclear Palsy Progressive	Progressive supranuclear palsy	Pubtator	33635380	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

EHD4 (EH domain containing 4)