SH3D19 (SH3 domain containing 19)

Gene

• Entrez ID: 152503
• Gene name: SH3 domain containing 19
• Gene symbol: SH3D19
• Synonyms (NCBI Gene): EBP, EVE1, Eve-1, Kryn, SH3P19
• Chromosome: 4
• Chromosome location: 4q31.3
• Summary: This gene encodes a multiple SH3 domain-containing protein, which interacts with other proteins, such as EBP and members of ADAM family, via the SH3 domains. This protein may be involved in suppression of Ras-induced cellular transformation and Ras-mediat

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019905	hsa-miR-375	Microarray	20215506
MIRT051806	hsa-let-7c-5p	CLASH	23622248
MIRT047081	hsa-miR-183-5p	CLASH	23622248
MIRT045870	hsa-miR-128-3p	CLASH	23622248
MIRT721273	hsa-miR-4432	HITS-CLIP	19536157
MIRT721272	hsa-miR-508-5p	HITS-CLIP	19536157
MIRT721271	hsa-miR-451b	HITS-CLIP	19536157
MIRT721270	hsa-miR-6501-3p	HITS-CLIP	19536157
MIRT721269	hsa-miR-6849-3p	HITS-CLIP	19536157
MIRT721268	hsa-miR-939-3p	HITS-CLIP	19536157
MIRT721267	hsa-miR-371b-5p	HITS-CLIP	19536157
MIRT721266	hsa-miR-373-5p	HITS-CLIP	19536157
MIRT721265	hsa-miR-616-5p	HITS-CLIP	19536157
MIRT721264	hsa-miR-766-3p	HITS-CLIP	19536157
MIRT721263	hsa-miR-1285-3p	HITS-CLIP	19536157
MIRT721262	hsa-miR-3187-5p	HITS-CLIP	19536157
MIRT721261	hsa-miR-5189-5p	HITS-CLIP	19536157
MIRT721260	hsa-miR-612	HITS-CLIP	19536157
MIRT721259	hsa-miR-6860	HITS-CLIP	19536157
MIRT721258	hsa-miR-4696	HITS-CLIP	19536157
MIRT721257	hsa-miR-661	HITS-CLIP	19536157
MIRT721256	hsa-miR-196a-3p	HITS-CLIP	19536157
MIRT721255	hsa-miR-6512-3p	HITS-CLIP	19536157
MIRT721254	hsa-miR-6720-5p	HITS-CLIP	19536157
MIRT666419	hsa-miR-2392	HITS-CLIP	23824327
MIRT666418	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT666417	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT666416	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT666415	hsa-miR-1976	HITS-CLIP	23824327
MIRT666414	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT666413	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT666412	hsa-miR-4454	HITS-CLIP	23824327
MIRT666411	hsa-miR-1193	HITS-CLIP	23824327
MIRT666410	hsa-miR-3157-5p	HITS-CLIP	23824327
MIRT666409	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT670123	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT670122	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT666419	hsa-miR-2392	HITS-CLIP	23824327
MIRT666418	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT666416	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT666415	hsa-miR-1976	HITS-CLIP	23824327
MIRT666414	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT666413	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT666412	hsa-miR-4454	HITS-CLIP	23824327
MIRT666411	hsa-miR-1193	HITS-CLIP	23824327
MIRT666410	hsa-miR-3157-5p	HITS-CLIP	23824327
MIRT666409	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT670123	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT670122	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT666419	hsa-miR-2392	HITS-CLIP	23824327
MIRT666418	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT666417	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT666416	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT666415	hsa-miR-1976	HITS-CLIP	23824327
MIRT666414	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT666413	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT666412	hsa-miR-4454	HITS-CLIP	23824327
MIRT666411	hsa-miR-1193	HITS-CLIP	23824327
MIRT666410	hsa-miR-3157-5p	HITS-CLIP	23824327
MIRT666409	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT670123	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT670122	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT666408	hsa-miR-6847-5p	HITS-CLIP	23824327
MIRT666407	hsa-miR-4257	HITS-CLIP	23824327
MIRT666406	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT670121	hsa-miR-6089	HITS-CLIP	23824327
MIRT666405	hsa-miR-4284	HITS-CLIP	23824327
MIRT666404	hsa-miR-4437	HITS-CLIP	23824327
MIRT666403	hsa-miR-7977	HITS-CLIP	23824327
MIRT666402	hsa-miR-3942-3p	HITS-CLIP	23824327
MIRT643925	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT666419	hsa-miR-2392	HITS-CLIP	23824327
MIRT666418	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT666417	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT666416	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT666415	hsa-miR-1976	HITS-CLIP	23824327
MIRT666414	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT666413	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT666412	hsa-miR-4454	HITS-CLIP	23824327
MIRT666411	hsa-miR-1193	HITS-CLIP	23824327
MIRT666410	hsa-miR-3157-5p	HITS-CLIP	23824327
MIRT666409	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT666408	hsa-miR-6847-5p	HITS-CLIP	23824327
MIRT666407	hsa-miR-4257	HITS-CLIP	23824327
MIRT666406	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT666405	hsa-miR-4284	HITS-CLIP	23824327
MIRT666404	hsa-miR-4437	HITS-CLIP	23824327
MIRT666403	hsa-miR-7977	HITS-CLIP	23824327
MIRT666402	hsa-miR-3942-3p	HITS-CLIP	23824327
MIRT643925	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT721273	hsa-miR-4432	HITS-CLIP	19536157
MIRT721272	hsa-miR-508-5p	HITS-CLIP	19536157
MIRT721271	hsa-miR-451b	HITS-CLIP	19536157
MIRT721270	hsa-miR-6501-3p	HITS-CLIP	19536157
MIRT721269	hsa-miR-6849-3p	HITS-CLIP	19536157
MIRT721268	hsa-miR-939-3p	HITS-CLIP	19536157
MIRT721267	hsa-miR-371b-5p	HITS-CLIP	19536157
MIRT721266	hsa-miR-373-5p	HITS-CLIP	19536157
MIRT721265	hsa-miR-616-5p	HITS-CLIP	19536157
MIRT721264	hsa-miR-766-3p	HITS-CLIP	19536157
MIRT721263	hsa-miR-1285-3p	HITS-CLIP	19536157
MIRT721262	hsa-miR-3187-5p	HITS-CLIP	19536157
MIRT721261	hsa-miR-5189-5p	HITS-CLIP	19536157
MIRT721260	hsa-miR-612	HITS-CLIP	19536157
MIRT721259	hsa-miR-6860	HITS-CLIP	19536157
MIRT721258	hsa-miR-4696	HITS-CLIP	19536157
MIRT721257	hsa-miR-661	HITS-CLIP	19536157
MIRT721256	hsa-miR-196a-3p	HITS-CLIP	19536157
MIRT721255	hsa-miR-6512-3p	HITS-CLIP	19536157
MIRT721254	hsa-miR-6720-5p	HITS-CLIP	19536157
MIRT666419	hsa-miR-2392	HITS-CLIP	23824327
MIRT666418	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT666417	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT666416	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT666415	hsa-miR-1976	HITS-CLIP	23824327
MIRT666414	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT666413	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT666412	hsa-miR-4454	HITS-CLIP	23824327
MIRT666411	hsa-miR-1193	HITS-CLIP	23824327
MIRT666410	hsa-miR-3157-5p	HITS-CLIP	23824327
MIRT666409	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT670123	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT670122	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT666419	hsa-miR-2392	HITS-CLIP	23824327
MIRT666418	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT666416	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT666415	hsa-miR-1976	HITS-CLIP	23824327
MIRT666414	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT666413	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT666412	hsa-miR-4454	HITS-CLIP	23824327
MIRT666411	hsa-miR-1193	HITS-CLIP	23824327
MIRT666410	hsa-miR-3157-5p	HITS-CLIP	23824327
MIRT666409	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT670123	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT670122	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT666419	hsa-miR-2392	HITS-CLIP	23824327
MIRT666418	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT666417	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT666416	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT666415	hsa-miR-1976	HITS-CLIP	23824327
MIRT666414	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT666413	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT666412	hsa-miR-4454	HITS-CLIP	23824327
MIRT666411	hsa-miR-1193	HITS-CLIP	23824327
MIRT666410	hsa-miR-3157-5p	HITS-CLIP	23824327
MIRT666409	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT670123	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT670122	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT666408	hsa-miR-6847-5p	HITS-CLIP	23824327
MIRT666407	hsa-miR-4257	HITS-CLIP	23824327
MIRT666406	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT670121	hsa-miR-6089	HITS-CLIP	23824327
MIRT666405	hsa-miR-4284	HITS-CLIP	23824327
MIRT666404	hsa-miR-4437	HITS-CLIP	23824327
MIRT666403	hsa-miR-7977	HITS-CLIP	23824327
MIRT666402	hsa-miR-3942-3p	HITS-CLIP	23824327
MIRT643925	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT666419	hsa-miR-2392	HITS-CLIP	23824327
MIRT666418	hsa-miR-4691-3p	HITS-CLIP	23824327
MIRT666417	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT666416	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT666415	hsa-miR-1976	HITS-CLIP	23824327
MIRT666414	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT666413	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT666412	hsa-miR-4454	HITS-CLIP	23824327
MIRT666411	hsa-miR-1193	HITS-CLIP	23824327
MIRT666410	hsa-miR-3157-5p	HITS-CLIP	23824327
MIRT666409	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT666408	hsa-miR-6847-5p	HITS-CLIP	23824327
MIRT666407	hsa-miR-4257	HITS-CLIP	23824327
MIRT666406	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT666405	hsa-miR-4284	HITS-CLIP	23824327
MIRT666404	hsa-miR-4437	HITS-CLIP	23824327
MIRT666403	hsa-miR-7977	HITS-CLIP	23824327
MIRT666402	hsa-miR-3942-3p	HITS-CLIP	23824327
MIRT643925	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT1345001	hsa-miR-1261	CLIP-seq
MIRT1345002	hsa-miR-155	CLIP-seq
MIRT1345003	hsa-miR-183	CLIP-seq
MIRT1345004	hsa-miR-3144-3p	CLIP-seq
MIRT1345005	hsa-miR-3688-3p	CLIP-seq
MIRT1345006	hsa-miR-4658	CLIP-seq
MIRT1345007	hsa-miR-4758-5p	CLIP-seq
MIRT1345008	hsa-miR-4765	CLIP-seq
MIRT1345009	hsa-miR-4777-3p	CLIP-seq
MIRT1345010	hsa-miR-514	CLIP-seq
MIRT1345011	hsa-miR-514b-3p	CLIP-seq
MIRT1345012	hsa-miR-875-5p	CLIP-seq
MIRT1345013	hsa-miR-1297	CLIP-seq
MIRT1345003	hsa-miR-183	CLIP-seq
MIRT1345014	hsa-miR-25	CLIP-seq
MIRT1345015	hsa-miR-26a	CLIP-seq
MIRT1345016	hsa-miR-26b	CLIP-seq
MIRT1345017	hsa-miR-3148	CLIP-seq
MIRT1345018	hsa-miR-32	CLIP-seq
MIRT1345019	hsa-miR-3613-3p	CLIP-seq
MIRT1345020	hsa-miR-363	CLIP-seq
MIRT1345021	hsa-miR-367	CLIP-seq
MIRT1345022	hsa-miR-371-5p	CLIP-seq
MIRT1345023	hsa-miR-3915	CLIP-seq
MIRT1345024	hsa-miR-3928	CLIP-seq
MIRT1345025	hsa-miR-4277	CLIP-seq
MIRT1345026	hsa-miR-4325	CLIP-seq
MIRT1345027	hsa-miR-4328	CLIP-seq
MIRT1345028	hsa-miR-4465	CLIP-seq
MIRT1345029	hsa-miR-4520a-3p	CLIP-seq
MIRT1345030	hsa-miR-4520b-3p	CLIP-seq
MIRT1345031	hsa-miR-4529-3p	CLIP-seq
MIRT1345032	hsa-miR-4701-5p	CLIP-seq
MIRT1345033	hsa-miR-4720-3p	CLIP-seq
MIRT1345034	hsa-miR-4804-3p	CLIP-seq
MIRT1345035	hsa-miR-488	CLIP-seq
MIRT1345036	hsa-miR-513c	CLIP-seq
MIRT1345037	hsa-miR-514b-5p	CLIP-seq
MIRT1345038	hsa-miR-548n	CLIP-seq
MIRT1345039	hsa-miR-548t	CLIP-seq
MIRT1345040	hsa-miR-556-3p	CLIP-seq
MIRT1345041	hsa-miR-582-5p	CLIP-seq
MIRT1345042	hsa-miR-588	CLIP-seq
MIRT1345043	hsa-miR-595	CLIP-seq
MIRT1345044	hsa-miR-628-5p	CLIP-seq
MIRT1345045	hsa-miR-644	CLIP-seq
MIRT1345046	hsa-miR-663b	CLIP-seq
MIRT1345047	hsa-miR-92a	CLIP-seq
MIRT1345048	hsa-miR-92b	CLIP-seq
MIRT1345014	hsa-miR-25	CLIP-seq
MIRT2102075	hsa-miR-3121-5p	CLIP-seq
MIRT1345018	hsa-miR-32	CLIP-seq
MIRT1345020	hsa-miR-363	CLIP-seq
MIRT1345021	hsa-miR-367	CLIP-seq
MIRT2102076	hsa-miR-3910	CLIP-seq
MIRT1345025	hsa-miR-4277	CLIP-seq
MIRT1345026	hsa-miR-4325	CLIP-seq
MIRT1345027	hsa-miR-4328	CLIP-seq
MIRT2102077	hsa-miR-4708-3p	CLIP-seq
MIRT2102078	hsa-miR-4712-5p	CLIP-seq
MIRT2102079	hsa-miR-4733-5p	CLIP-seq
MIRT1345038	hsa-miR-548n	CLIP-seq
MIRT1345039	hsa-miR-548t	CLIP-seq
MIRT1345040	hsa-miR-556-3p	CLIP-seq
MIRT1345041	hsa-miR-582-5p	CLIP-seq
MIRT2102080	hsa-miR-770-5p	CLIP-seq
MIRT1345047	hsa-miR-92a	CLIP-seq
MIRT1345048	hsa-miR-92b	CLIP-seq
MIRT2326523	hsa-miR-3159	CLIP-seq
MIRT2326524	hsa-miR-3202	CLIP-seq
MIRT1345005	hsa-miR-3688-3p	CLIP-seq
MIRT2102076	hsa-miR-3910	CLIP-seq
MIRT2326525	hsa-miR-4533	CLIP-seq
MIRT2102077	hsa-miR-4708-3p	CLIP-seq
MIRT2326526	hsa-miR-4766-3p	CLIP-seq
MIRT1345041	hsa-miR-582-5p	CLIP-seq
MIRT1345014	hsa-miR-25	CLIP-seq
MIRT1345018	hsa-miR-32	CLIP-seq
MIRT1345020	hsa-miR-363	CLIP-seq
MIRT1345021	hsa-miR-367	CLIP-seq
MIRT1345026	hsa-miR-4325	CLIP-seq
MIRT1345040	hsa-miR-556-3p	CLIP-seq
MIRT1345041	hsa-miR-582-5p	CLIP-seq
MIRT1345047	hsa-miR-92a	CLIP-seq
MIRT1345048	hsa-miR-92b	CLIP-seq
MIRT2622086	hsa-miR-1236	CLIP-seq
MIRT2622087	hsa-miR-4778-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	15280379, 25416956, 28514442, 32296183, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	15280379
GO:0007010	Process	Cytoskeleton organization	IMP	21834987
GO:0022604	Process	Regulation of cell morphogenesis	IMP	21834987
GO:0051044	Process	Positive regulation of membrane protein ectodomain proteolysis	IMP	15280379
GO:0070064	Function	Proline-rich region binding	IPI	15280379

Other IDs

• MIM: 608674
• HGNC: 30418
• e!Ensembl: ENSG00000109686

Protein

• UniProt ID: Q5HYK7
• Protein name: SH3 domain-containing protein 19 (ADAM-binding protein Eve-1) (EEN-binding protein) (EBP)
• Protein function: May play a role in regulating A disintegrin and metalloproteases (ADAMs) in the signaling of EGFR-ligand shedding. May be involved in suppression of Ras-induced cellular transformation and Ras-mediated activation of ELK1. Plays a role in the reg
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07653	SH3_2	419 → 472	Variant SH3 domain	Domain
  PF00018	SH3_1	501 → 546	SH3 domain	Domain
  PF00018	SH3_1	577 → 622	SH3 domain	Domain
  PF00018	SH3_1	667 → 712	SH3 domain	Domain
  PF14604	SH3_9	737 → 785	Variant SH3 domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed with highest levels in heart, skeletal muscle, kidney, liver, placenta, small intestine and lung. Expressed at low levels in colon, thymus, spleen and leukocytes. {ECO:0000269|PubMed:15280379}.
• Sequence:

  MNIMNTEQSQNSIVSRIKVFEGQTNIETSGLPKKPEITPRSLPPKPTVSSGKPSVAPKPA
  ANRASGEWDSGTENRLKVTSKEGLTPYPPLQEAGSIPVTKPELPKKPNPGLIRSVNPEIP
  GRGPLAESSDSGKKVPTPAPRPLLLKKSVSSENPTYPSAPLKPVTVPPRLAGASQAKAYK
  SLGEGPPANPPVPVLQSKPLVDIDLISFDDDVLPTPSGNLAEESVGSEMVLDPFQLPAKT
  EPIKERAVQPAPTRKPTVIRIPAKPGKCLHEDPQSPPPLPAEKPIGNTFSTVSGKLSNVE
  RTRNLESNHPGQTGGFVRVPPRLPPRPVNGKTIPTQQPPTKVPPERPPPPKLSATRRSNK
  KLPFNRSSSDMDLQKKQSNLATGLSKAKSQVFKNQDPVLPPRPKPGHPLYSKYMLSVPHG
  IANEDIVSQNPGELSCKRGDVLVMLKQTENNYLECQKGEDTGRVHLSQMKIITPLDEHLR
  SRPNDPSHAQKPVDSGAPHAVVLHDFPAEQVDDLNLTSGEIVYLLEKIDTDWYRGNCRNQ
  IGIFPANYVKVIIDIPEGGNGKRECVSSHCVKGSRCVARFEYIGEQKDELSFSEGEIIIL
  KEYVNEEWARGEVRGRTGIFPLNFVEPVEDYPTSGANVLSTKVPLKTKKEDSGSNSQVNS
  LPAEWCEALHSFTAETSDDLSFKRGDRIQILERLDSDWCRGRLQDREGIFPAVFVRPCPA
  EAKSMLAIVPKGRKAKALYDFRGENEDELSFKAGDIITELESVDDDWMSGELMGKSGIFP
  KNYIQFLQIS

• Sequence length: 790

Pathways

Reactome:

Golgi Associated Vesicle Biogenesis

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	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL TREMOR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SH3D19-related disorder	Likely benign; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
2-3 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	9326225		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	28013106, 29051180, 30119908, 30837643, 31173485, 31547736		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	12393450		★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	30541745		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	17625999		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ankyloglossia	Ankyloglossia	BEFREE	12204278		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	28552098		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	16670028		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm	Bladder Neoplasm	BEFREE	18519798		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12052253, 18056453, 18519709, 24789216, 8774705		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27246191, 31165728	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Calcification of trachea	Calcification Of Trachea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	18519798		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	15205324, 30807551		★☆☆☆☆ Found in Text Mining only
Cartilage-hair hypoplasia	Cartilage-Hair Hypoplasia	BEFREE	22229330, 24459067		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	10391219, 25846959	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	24915996, 25846959		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	19344698		★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	30541745		★☆☆☆☆ Found in Text Mining only
Chondrodysplasia Punctata	Chondrodysplasia	Pubtator	10391219, 11982764, 12509714, 18176751, 21163155, 25846959, 30135486, 30608402, 31165728, 33147667	Associate	★☆☆☆☆ Found in Text Mining only
Chondrodysplasia Punctata	Chondrodysplasia Punctata	BEFREE	10710235, 11038443, 11493318, 12503101, 18573709, 1973136, 20949533, 22121851, 24036494, 28799855		★☆☆☆☆ Found in Text Mining only
Chondrodysplasia Punctata	Chondrodysplasia Punctata	CTD_human_DG	18176751		★☆☆☆☆ Found in Text Mining only
Chondrodysplasia punctata, X-linked dominant type	Chondrodysplasia Punctata	BEFREE	10391218, 10391219, 10942423, 11038443, 11982764, 12503101, 12503102, 12509714, 12975777, 14726822, 15953085, 17625999, 17949453, 18176751, 18395876, 18573709, 19309688, 20949533, 21103663, 21931045, 22121851, 24036494, 24459067, 24700572, 30135486, 30608402, 31165728		★☆☆☆☆ Found in Text Mining only
Chondrodysplasia punctata, X-linked dominant type	Chondrodysplasia Punctata	UNIPROT_DG	10391218, 10391219, 10942423, 11493318, 18176751, 25814754		★☆☆☆☆ Found in Text Mining only
Chondrodysplasia punctata, X-linked dominant type	Chondrodysplasia Punctata	GENOMICS_ENGLAND_DG	10391218, 12503101, 12509714, 27604308, 6408138		★☆☆☆☆ Found in Text Mining only
Chondrodysplasia punctata, X-linked dominant type	Chondrodysplasia Punctata	CTD_human_DG	18176751		★☆☆☆☆ Found in Text Mining only
Chondrodysplasia punctata, X-linked dominant type	Chondrodysplasia Punctata	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	14670999		★☆☆☆☆ Found in Text Mining only
Cleft Palate with Ankyloglossia	Cleft Palate With Ankyloglossia	BEFREE	11559848, 12374769, 19418442		★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	12491147		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	16246266		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10760820		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32163279, 37205704	Associate	★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects	Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	BEFREE	10710235, 17625999, 31034146		★☆☆☆☆ Found in Text Mining only
Congenital ichthyosis	Congenital Ichthyosis	BEFREE	24915996		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28192155		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	25835000		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	25835000		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	25835000		★☆☆☆☆ Found in Text Mining only
Costello Syndrome	Costello syndrome	Pubtator	10712202	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	BEFREE	20949533		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	10656877, 11591888, 12083969		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	11591888	Associate	★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	BEFREE	20949533		★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	12491147, 15142383		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	29044125		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	19641492		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	15630592		★☆☆☆☆ Found in Text Mining only
Exfoliative dermatitis	Exfoliative Dermatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	23499441		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	18182446		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	15688424		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	BEFREE	30630527		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	20536385, 7577367		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	20536385, 7577367		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	16465418		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	24459067		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Globoid cell leukodystrophy	Globoid Cell Leukodystrophy	BEFREE	11978730		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	25846959, 30135486	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	28031014, 30566230		★☆☆☆☆ Found in Text Mining only
Hemophilia B	Hemophilia	BEFREE	2342576, 8499951		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperostosis	Hyperostosis	BEFREE	14739291		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	12145290, 31649908		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	BEFREE	24915996		★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosiform Erythroderma Congenital	Congenital ichthyosiform erythroderma	Pubtator	25846959	Associate	★☆☆☆☆ Found in Text Mining only
Ichthyosiform Erythroderma, Congenital	Ichthyosis Congenita	BEFREE	25846959		★☆☆☆☆ Found in Text Mining only
Ichthyosiform Erythroderma, Congenital	Ichthyosis Congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis	Ichthyosis	Pubtator	10391219, 25846959, 30135486	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lathosterolosis	Lathosterolosis	BEFREE	12812989		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	18406180, 9393598		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	11978795, 12393450, 14726504, 15983063, 16446383, 17234736, 18451139, 28013106, 28286924, 28814164, 29051180, 29156201, 29167924, 29222237, 29264938, 29283906, 29296877, 29378418, 29532662, 29928134, 30113235, 30119908, 30423907, 30504411, 30541745, 30672340, 30837643, 31173485, 31203994, 31213803, 31547736, 9326225, 9393598		★☆☆☆☆ Found in Text Mining only
Lipodystrophy Congenital Generalized	Lipodystrophy	Pubtator	32349771	Associate	★☆☆☆☆ Found in Text Mining only
Liposarcoma, Myxoid	liposarcoma	BEFREE	7828148		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	12680236, 12967472, 18663475, 20850540, 2167445		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	2167445		★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	9326225		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	7744000, 9442386		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12052253, 18056453, 18519709, 20431345, 24789216		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	15205324		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	18519798		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16915290, 18519709, 28192155		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	16246266		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	19851833		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	10942517		★☆☆☆☆ Found in Text Mining only
MEND SYNDROME	MEND Syndrome	UNIPROT_DG	12503101, 20949533, 24459067, 24700572		★☆☆☆☆ Found in Text Mining only
MEND SYNDROME	MEND Syndrome	GENOMICS_ENGLAND_DG	20949533, 27604308		★☆☆☆☆ Found in Text Mining only
MEND SYNDROME	MEND Syndrome	BEFREE	22229330, 24120854, 31397093		★☆☆☆☆ Found in Text Mining only
MEND SYNDROME	MEND Syndrome	ORPHANET_DG	24459067		★☆☆☆☆ Found in Text Mining only
MEND syndrome	MEND Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
MEND SYNDROME	MEND Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
MEND SYNDROME	MEND Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microvascular Angina	Microvascular Angina	BEFREE	22229330		★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	9393598		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	1391942		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	11916518, 28901467		★☆☆☆☆ Found in Text Mining only
Myxoid/Round Cell Liposarcoma	Myxoid Liposarcoma	BEFREE	7828148		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10760820, 12680236, 15205324, 16246266, 16465418, 16915290, 18381421, 18512730, 18519798, 18663475, 20386538, 23142730, 25303533, 25402211, 28031014, 8640762, 9393598		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	7577367		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	30572788		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	19641492, 27842582, 29456896		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	12975777, 24459067, 30608402		★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	BEFREE	29484904		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	19724865	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	15785238, 18682709		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	9853426		★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Childhood obesity	BEFREE	30076372		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG	12509714		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly of toes	Polydactyly Of Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	9326225		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	12491147, 15142383		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28192155		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	30566230		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	9420334		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	11120852, 19846884		★☆☆☆☆ Found in Text Mining only
Rhizomelia	Rhizomelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	18281018		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
secondary acute myeloid leukemia	Myeloid leukemia	BEFREE	28030373, 29378418, 29908418, 29928134, 30024784, 30848394, 31173485, 31203994, 31760835		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	12975777, 24459067, 30608402		★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	21931045, 31034146		★☆☆☆☆ Found in Text Mining only
Specific granule deficiency	Specific Granule Deficiency	BEFREE	11753076		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	25402211		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	23499441		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	20386538		★☆☆☆☆ Found in Text Mining only
Tracheal Stenosis	Tracheal Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner syndrome	Pubtator	39940742	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	18182446		★☆☆☆☆ Found in Text Mining only
Warburg Sjo Fledelius syndrome	Warburg micro syndrome	Pubtator	37774976	Associate	★☆☆☆☆ Found in Text Mining only
X-linked dominant chondrodysplasia punctata	Chondrodysplasia, X-Linked	Orphanet			★☆☆☆☆ Found in Text Mining only