EPS15L1 (epidermal growth factor receptor pathway substrate 15 like 1)

Download as csv Download as pdf

Log in to bookmark this gene

Bookmark This Gene

Title Project / Tag (optional) Note (optional)

Cancel Save

On this page

Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 58513
• Gene name: Epidermal growth factor receptor pathway substrate 15 like 1
• Gene symbol: EPS15L1
• Synonyms (NCBI Gene): EPS15R
• Chromosome: 19
• Chromosome location: 19p13.11

miRNA Show/Hide all (222)

miRTarBase ID	miRNA	Experiments	Reference
MIRT514105	hsa-miR-3609	PAR-CLIP	20371350
MIRT514106	hsa-miR-548ah-5p	PAR-CLIP	20371350
MIRT514104	hsa-miR-106a-5p	PAR-CLIP	20371350
MIRT514103	hsa-miR-106b-5p	PAR-CLIP	20371350
MIRT514102	hsa-miR-17-5p	PAR-CLIP	20371350
MIRT514101	hsa-miR-20a-5p	PAR-CLIP	20371350
MIRT514100	hsa-miR-20b-5p	PAR-CLIP	20371350
MIRT514099	hsa-miR-519d-3p	PAR-CLIP	20371350
MIRT514098	hsa-miR-526b-3p	PAR-CLIP	20371350
MIRT514097	hsa-miR-93-5p	PAR-CLIP	20371350
MIRT514096	hsa-miR-4796-3p	PAR-CLIP	20371350
MIRT514095	hsa-miR-4803	PAR-CLIP	20371350
MIRT514094	hsa-miR-519a-3p	PAR-CLIP	20371350
MIRT514093	hsa-miR-519b-3p	PAR-CLIP	20371350
MIRT514092	hsa-miR-519c-3p	PAR-CLIP	20371350
MIRT514091	hsa-miR-329-5p	PAR-CLIP	20371350
MIRT514089	hsa-miR-4257	PAR-CLIP	20371350
MIRT514090	hsa-miR-759	PAR-CLIP	20371350
MIRT514087	hsa-miR-2467-3p	PAR-CLIP	20371350
MIRT514088	hsa-miR-6801-5p	PAR-CLIP	20371350
MIRT514086	hsa-miR-3678-3p	PAR-CLIP	20371350
MIRT514105	hsa-miR-3609	PAR-CLIP	21572407
MIRT514106	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT514104	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT514103	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT514102	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT514101	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT514100	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT514099	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT514098	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT514097	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT514096	hsa-miR-4796-3p	PAR-CLIP	21572407
MIRT514095	hsa-miR-4803	PAR-CLIP	21572407
MIRT514094	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT514093	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT514092	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT514091	hsa-miR-329-5p	PAR-CLIP	21572407
MIRT514089	hsa-miR-4257	PAR-CLIP	21572407
MIRT514090	hsa-miR-759	PAR-CLIP	21572407
MIRT514087	hsa-miR-2467-3p	PAR-CLIP	21572407
MIRT514088	hsa-miR-6801-5p	PAR-CLIP	21572407
MIRT514086	hsa-miR-3678-3p	PAR-CLIP	21572407
MIRT514105	hsa-miR-3609	PAR-CLIP	21572407
MIRT514106	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT514104	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT514103	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT514102	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT514101	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT514100	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT514099	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT514098	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT514097	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT514096	hsa-miR-4796-3p	PAR-CLIP	21572407
MIRT514095	hsa-miR-4803	PAR-CLIP	21572407
MIRT514094	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT514093	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT514092	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT514091	hsa-miR-329-5p	PAR-CLIP	21572407
MIRT514089	hsa-miR-4257	PAR-CLIP	21572407
MIRT514090	hsa-miR-759	PAR-CLIP	21572407
MIRT514087	hsa-miR-2467-3p	PAR-CLIP	21572407
MIRT514088	hsa-miR-6801-5p	PAR-CLIP	21572407
MIRT514086	hsa-miR-3678-3p	PAR-CLIP	21572407
MIRT514105	hsa-miR-3609	PAR-CLIP	23446348
MIRT514106	hsa-miR-548ah-5p	PAR-CLIP	23446348
MIRT514104	hsa-miR-106a-5p	PAR-CLIP	23446348
MIRT514103	hsa-miR-106b-5p	PAR-CLIP	23446348
MIRT514102	hsa-miR-17-5p	PAR-CLIP	23446348
MIRT514101	hsa-miR-20a-5p	PAR-CLIP	23446348
MIRT514100	hsa-miR-20b-5p	PAR-CLIP	23446348
MIRT514099	hsa-miR-519d-3p	PAR-CLIP	23446348
MIRT514098	hsa-miR-526b-3p	PAR-CLIP	23446348
MIRT514097	hsa-miR-93-5p	PAR-CLIP	23446348
MIRT514096	hsa-miR-4796-3p	PAR-CLIP	23446348
MIRT514095	hsa-miR-4803	PAR-CLIP	23446348
MIRT514094	hsa-miR-519a-3p	PAR-CLIP	23446348
MIRT514093	hsa-miR-519b-3p	PAR-CLIP	23446348
MIRT514092	hsa-miR-519c-3p	PAR-CLIP	23446348
MIRT514091	hsa-miR-329-5p	PAR-CLIP	23446348
MIRT514089	hsa-miR-4257	PAR-CLIP	23446348
MIRT514090	hsa-miR-759	PAR-CLIP	23446348
MIRT514087	hsa-miR-2467-3p	PAR-CLIP	23446348
MIRT514088	hsa-miR-6801-5p	PAR-CLIP	23446348
MIRT514086	hsa-miR-3678-3p	PAR-CLIP	23446348
MIRT451007	hsa-miR-6779-3p	PAR-CLIP	23592263
MIRT451006	hsa-miR-4292	PAR-CLIP	23592263
MIRT451005	hsa-miR-6791-5p	PAR-CLIP	23592263
MIRT451004	hsa-miR-5739	PAR-CLIP	23592263
MIRT451003	hsa-miR-3192-5p	PAR-CLIP	23592263
MIRT451002	hsa-miR-1233-3p	PAR-CLIP	23592263
MIRT451001	hsa-miR-558	PAR-CLIP	23592263
MIRT450999	hsa-miR-6804-5p	PAR-CLIP	23592263
MIRT451000	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT450998	hsa-miR-4306	PAR-CLIP	23592263
MIRT450997	hsa-miR-4644	PAR-CLIP	23592263
MIRT450996	hsa-miR-885-3p	PAR-CLIP	23592263
MIRT450995	hsa-miR-6878-5p	PAR-CLIP	23592263
MIRT450994	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT450993	hsa-miR-8085	PAR-CLIP	23592263
MIRT450992	hsa-miR-30c-1-3p	PAR-CLIP	23592263
MIRT450991	hsa-miR-30c-2-3p	PAR-CLIP	23592263
MIRT450990	hsa-miR-6788-5p	PAR-CLIP	23592263
MIRT514105	hsa-miR-3609	PAR-CLIP	20371350
MIRT514106	hsa-miR-548ah-5p	PAR-CLIP	20371350
MIRT514104	hsa-miR-106a-5p	PAR-CLIP	20371350
MIRT514103	hsa-miR-106b-5p	PAR-CLIP	20371350
MIRT514102	hsa-miR-17-5p	PAR-CLIP	20371350
MIRT514101	hsa-miR-20a-5p	PAR-CLIP	20371350
MIRT514100	hsa-miR-20b-5p	PAR-CLIP	20371350
MIRT514099	hsa-miR-519d-3p	PAR-CLIP	20371350
MIRT514098	hsa-miR-526b-3p	PAR-CLIP	20371350
MIRT514097	hsa-miR-93-5p	PAR-CLIP	20371350
MIRT514096	hsa-miR-4796-3p	PAR-CLIP	20371350
MIRT514095	hsa-miR-4803	PAR-CLIP	20371350
MIRT514094	hsa-miR-519a-3p	PAR-CLIP	20371350
MIRT514093	hsa-miR-519b-3p	PAR-CLIP	20371350
MIRT514092	hsa-miR-519c-3p	PAR-CLIP	20371350
MIRT514091	hsa-miR-329-5p	PAR-CLIP	20371350
MIRT514089	hsa-miR-4257	PAR-CLIP	20371350
MIRT514090	hsa-miR-759	PAR-CLIP	20371350
MIRT514087	hsa-miR-2467-3p	PAR-CLIP	20371350
MIRT514088	hsa-miR-6801-5p	PAR-CLIP	20371350
MIRT514086	hsa-miR-3678-3p	PAR-CLIP	20371350
MIRT514105	hsa-miR-3609	PAR-CLIP	21572407
MIRT514106	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT514104	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT514103	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT514102	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT514101	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT514100	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT514099	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT514098	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT514097	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT514096	hsa-miR-4796-3p	PAR-CLIP	21572407
MIRT514095	hsa-miR-4803	PAR-CLIP	21572407
MIRT514094	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT514093	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT514092	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT514091	hsa-miR-329-5p	PAR-CLIP	21572407
MIRT514089	hsa-miR-4257	PAR-CLIP	21572407
MIRT514090	hsa-miR-759	PAR-CLIP	21572407
MIRT514087	hsa-miR-2467-3p	PAR-CLIP	21572407
MIRT514088	hsa-miR-6801-5p	PAR-CLIP	21572407
MIRT514086	hsa-miR-3678-3p	PAR-CLIP	21572407
MIRT514105	hsa-miR-3609	PAR-CLIP	21572407
MIRT514106	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT514104	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT514103	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT514102	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT514101	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT514100	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT514099	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT514098	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT514097	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT514096	hsa-miR-4796-3p	PAR-CLIP	21572407
MIRT514095	hsa-miR-4803	PAR-CLIP	21572407
MIRT514094	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT514093	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT514092	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT514091	hsa-miR-329-5p	PAR-CLIP	21572407
MIRT514089	hsa-miR-4257	PAR-CLIP	21572407
MIRT514090	hsa-miR-759	PAR-CLIP	21572407
MIRT514087	hsa-miR-2467-3p	PAR-CLIP	21572407
MIRT514088	hsa-miR-6801-5p	PAR-CLIP	21572407
MIRT514086	hsa-miR-3678-3p	PAR-CLIP	21572407
MIRT514105	hsa-miR-3609	PAR-CLIP	23446348
MIRT514106	hsa-miR-548ah-5p	PAR-CLIP	23446348
MIRT514104	hsa-miR-106a-5p	PAR-CLIP	23446348
MIRT514103	hsa-miR-106b-5p	PAR-CLIP	23446348
MIRT514102	hsa-miR-17-5p	PAR-CLIP	23446348
MIRT514101	hsa-miR-20a-5p	PAR-CLIP	23446348
MIRT514100	hsa-miR-20b-5p	PAR-CLIP	23446348
MIRT514099	hsa-miR-519d-3p	PAR-CLIP	23446348
MIRT514098	hsa-miR-526b-3p	PAR-CLIP	23446348
MIRT514097	hsa-miR-93-5p	PAR-CLIP	23446348
MIRT514096	hsa-miR-4796-3p	PAR-CLIP	23446348
MIRT514095	hsa-miR-4803	PAR-CLIP	23446348
MIRT514094	hsa-miR-519a-3p	PAR-CLIP	23446348
MIRT514093	hsa-miR-519b-3p	PAR-CLIP	23446348
MIRT514092	hsa-miR-519c-3p	PAR-CLIP	23446348
MIRT514091	hsa-miR-329-5p	PAR-CLIP	23446348
MIRT514089	hsa-miR-4257	PAR-CLIP	23446348
MIRT514090	hsa-miR-759	PAR-CLIP	23446348
MIRT514087	hsa-miR-2467-3p	PAR-CLIP	23446348
MIRT514088	hsa-miR-6801-5p	PAR-CLIP	23446348
MIRT514086	hsa-miR-3678-3p	PAR-CLIP	23446348
MIRT451007	hsa-miR-6779-3p	PAR-CLIP	23592263
MIRT451006	hsa-miR-4292	PAR-CLIP	23592263
MIRT451005	hsa-miR-6791-5p	PAR-CLIP	23592263
MIRT451004	hsa-miR-5739	PAR-CLIP	23592263
MIRT451003	hsa-miR-3192-5p	PAR-CLIP	23592263
MIRT451002	hsa-miR-1233-3p	PAR-CLIP	23592263
MIRT451001	hsa-miR-558	PAR-CLIP	23592263
MIRT450999	hsa-miR-6804-5p	PAR-CLIP	23592263
MIRT451000	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT450998	hsa-miR-4306	PAR-CLIP	23592263
MIRT450997	hsa-miR-4644	PAR-CLIP	23592263
MIRT450996	hsa-miR-885-3p	PAR-CLIP	23592263
MIRT450995	hsa-miR-6878-5p	PAR-CLIP	23592263
MIRT450994	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT450993	hsa-miR-8085	PAR-CLIP	23592263
MIRT450992	hsa-miR-30c-1-3p	PAR-CLIP	23592263
MIRT450991	hsa-miR-30c-2-3p	PAR-CLIP	23592263
MIRT450990	hsa-miR-6788-5p	PAR-CLIP	23592263
MIRT967320	hsa-miR-34a	CLIP-seq
MIRT967321	hsa-miR-34c-5p	CLIP-seq
MIRT967322	hsa-miR-4280	CLIP-seq
MIRT967323	hsa-miR-449a	CLIP-seq
MIRT967324	hsa-miR-449b	CLIP-seq
MIRT967325	hsa-miR-452	CLIP-seq
MIRT967326	hsa-miR-4676-3p	CLIP-seq
MIRT967327	hsa-miR-4738-3p	CLIP-seq
MIRT967328	hsa-miR-4795-5p	CLIP-seq
MIRT967329	hsa-miR-548g	CLIP-seq
MIRT967330	hsa-miR-600	CLIP-seq
MIRT2221092	hsa-miR-4428	CLIP-seq
MIRT2524803	hsa-miR-1915	CLIP-seq
MIRT2524804	hsa-miR-2276	CLIP-seq
MIRT2524805	hsa-miR-4668-3p	CLIP-seq
MIRT2524806	hsa-miR-4726-3p	CLIP-seq
MIRT2524807	hsa-miR-548c-3p	CLIP-seq
MIRT2524808	hsa-miR-605	CLIP-seq

Gene ontology (GO) Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	16159959, 18200045, 19262564, 25416956, 32203420, 32296183, 33961781, 35271311, 35914814
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005905	Component	Clathrin-coated pit	IEA
GO:0006897	Process	Endocytosis	IBA
GO:0006897	Process	Endocytosis	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016197	Process	Endosomal transport	IBA
GO:0030132	Component	Clathrin coat of coated pit	IBA
GO:0030132	Component	Clathrin coat of coated pit	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	IBA
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0046872	Function	Metal ion binding	IEA
GO:0048488	Process	Synaptic vesicle endocytosis	IEA
GO:0098793	Component	Presynapse	IEA

Other IDs

• MIM: 616826
• HGNC: 24634
• e!Ensembl: ENSG00000127527

Protein

• UniProt ID: Q9UBC2
• Protein name: Epidermal growth factor receptor substrate 15-like 1 (Eps15-related protein) (Eps15R)
• Protein function: Seems to be a constitutive component of clathrin-coated pits that is required for receptor-mediated endocytosis. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR); internalization of ITGB1 as DAB2-dependent cargo
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12763	EF-hand_4	122 → 218	Cytoskeletal-regulatory complex EF hand	Family
  PF12763	EF-hand_4	273 → 365	Cytoskeletal-regulatory complex EF hand	Family
  PF12763	EF-hand_4	17 → 93	Cytoskeletal-regulatory complex EF hand	Family

• Sequence:

  MAAPLIPLSQQIPTGNSLYESYYKQVDPAYTGRVGASEAALFLKKSGLSDIILGKIWDLA
  DPEGKGFLDKQGFYVALRLVACAQSGHEVTLSNLNLSMPPPKFHDTSSPLMVTPPSAEAH
  WAVRVEEKAKFDGIFESLLPINGLLSGDKVKPVLMNSKLPLDVLGRVWDLSDIDKDGHLD
  RDEFAVAMHLVYRALEKEPVPSALPPSLIPPSKRKKTVFPGAVPVLPASPPPKDSLRSTP
  SHGSVSSLNSTGSLSPKHSLKQTQPTVNWVVPVADKMRFDEIFLKTDLDLDGYVSGQEVK
  EIFMHSGLTQNLLAHIWALADTRQTGKLSKDQFALAMYFIQQKVSKGIDPPQVLSPDMVP
  PSERGTPGPDSSGSLGSGEFTGVKELDDISQEIAQLQREKYSLEQDIREKEEAIRQKTSE
  VQELQNDLDRETSSLQELEAQKQDAQDRLDEMDQQKAKLRDMLSDVRQKCQDETQMISSL
  KTQIQSQESDLKSQEDDLNRAKSELNRLQQEETQLEQSIQAGRVQLETIIKSLKSTQDEI
  NQARSKLSQLHESRQEAHRSLEQYDQVLDGAHGASLTDLANLSEGVSLAERGSFGAMDDP
  FKNKALLFSNNTQELHPDPFQTEDPFKSDPFKGADPFKGDPFQNDPFAEQQTTSTDPFGG
  DPFKESDPFRGSATDDFFKKQTKNDPFTSDPFTKNPSLPSKLDPFESSDPFSSSSVSSKG
  SDPFGTLDPFGSGSFNSAEGFADFSQMSKPPPSGPFTSSLGGAGFSDDPFKSKQDTPALP
  PKKPAPPRPKPPSGKSTPVSQLGSADFPEAPDPFQPLGADSGDPFQSKKGFGDPFSGKDP
  FVPSSAAKPSKASASGFADFTSVS

• Sequence length: 864

Pathways

KEGG Pathway	Reactome Pathway
Endocytosis	EGFR downregulation
	Cargo recognition for clathrin-mediated endocytosis
	Clathrin-mediated endocytosis

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ASTHMA	—	GWAS catalog	32296059	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ECTRODACTYLY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	22190364, 24076602, 31604244, 35545683	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPLIT HAND-FOOT MALFORMATION	—	CTD	29023680	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	33493351	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (12)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aniridia	Aniridia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Foot Deformity	Congenital deformity of foot	BEFREE	21700002		★☆☆☆☆ Found in Text Mining only
Cornelia De Lange Syndrome	Cornelia De Lange Syndrome	BEFREE	30302754		★☆☆☆☆ Found in Text Mining only
Ectrodactyly	Ectrodactyly	ORPHANET_DG	29023680		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Isolated split hand-split foot malformation	Isolated Split Hand-Split Foot Malformation	Orphanet			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	18395097, 31355249		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	22190364		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	GWASCAT_DG	22190364, 24076602		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oligodactyly	Oligodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Split foot	Split Hand Foot Deformity	BEFREE	21700002		★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

FBXW4 2 shared diseasesEctrodactyly, Split hand-foot malformation 1 shared evidence sourceDisgenet (Ectrodactyly) Related via 2 shared diseases including Ectrodactyly, Split hand-foot malformation — evidence mostly Disgenet. WNT10B 2 shared diseasesEctrodactyly, Split hand-foot malformation 2 shared evidence sourcesDisgenet (Ectrodactyly), CTD (Split hand-foot malformation) Related via 2 shared diseases including Ectrodactyly, Split hand-foot malformation — evidence mostly Disgenet. DLX6 2 shared diseasesEctrodactyly, Split hand-foot malformation 1 shared evidence sourceDisgenet (Ectrodactyly) Related via 2 shared diseases including Ectrodactyly, Split hand-foot malformation — evidence mostly Disgenet. EPN1 4 shared pathwaysEndocytosis, Clathrin-mediated endocytosis, EGFR downregulation, Cargo recognition for clathrin-mediated endocytosis Related via 4 shared pathways including Endocytosis, Clathrin-mediated endocytosis. EPS15 4 shared pathwaysEndocytosis, Clathrin-mediated endocytosis, EGFR downregulation, Cargo recognition for clathrin-mediated endocytosis Related via 4 shared pathways including Endocytosis, Clathrin-mediated endocytosis.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
FBXW4	2	["Ectrodactyly","Split hand-foot malformation"]	0	[]	1	["Disgenet (Ectrodactyly)"]
WNT10B	2	["Ectrodactyly","Split hand-foot malformation"]	0	[]	2	["Disgenet (Ectrodactyly)","CTD (Split hand-foot malformation)"]
DLX6	2	["Ectrodactyly","Split hand-foot malformation"]	0	[]	1	["Disgenet (Ectrodactyly)"]
EPN1	0	[]	4	["Endocytosis","Clathrin-mediated endocytosis","EGFR downregulation","Cargo recognition for clathrin-mediated endocytosis"]	0	[]
EPS15	0	[]	4	["Endocytosis","Clathrin-mediated endocytosis","EGFR downregulation","Cargo recognition for clathrin-mediated endocytosis"]	0	[]

Diseases Linked via Similar Genes

Desbuquois syndrome Linked via 3 of 5 related genesFBXW4, WNT10B, DLX6 Schizophrenia Linked via 1 of 5 related genesFBXW4 Breast neoplasms Linked via 1 of 5 related genesWNT10B Tooth agenesis Linked via 1 of 5 related genesWNT10B Obesity Linked via 1 of 5 related genesWNT10B

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Desbuquois syndrome	3	["FBXW4","WNT10B","DLX6"]
Schizophrenia	1	["FBXW4"]
Breast neoplasms	1	["WNT10B"]
Tooth agenesis	1	["WNT10B"]
Obesity	1	["WNT10B"]