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	9709
Gene name	Homocysteine inducible ER protein with ubiquitin like domain 1
Gene symbol	HERPUD1
Synonyms (NCBI Gene)	HERPHERPUD1-IT1Mif1SUP
Chromosome	16
Chromosome location	16q13
Summary	The accumulation of unfolded proteins in the endoplasmic reticulum (ER) triggers the ER stress response. This response includes the inhibition of translation to prevent further accumulation of unfolded proteins, the increased expression of proteins involv

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miRTarBase ID	miRNA	Experiments	Reference
MIRT002508	hsa-miR-373-3p	Microarray	15685193
MIRT018664	hsa-miR-335-5p	Microarray	18185580
MIRT019938	hsa-miR-375	Microarray	20215506
MIRT002508	hsa-miR-373-3p	Microarray;Other	15685193
MIRT029926	hsa-miR-26b-5p	Microarray	19088304
MIRT048869	hsa-miR-93-5p	CLASH	23622248
MIRT039770	hsa-miR-615-3p	CLASH	23622248
MIRT475747	hsa-miR-510-5p	HITS-CLIP	23706177
MIRT475746	hsa-miR-3927-3p	HITS-CLIP	23706177
MIRT475745	hsa-miR-6831-5p	HITS-CLIP	23706177
MIRT475744	hsa-miR-4768-3p	HITS-CLIP	23706177
MIRT475743	hsa-miR-4459	HITS-CLIP	23706177
MIRT475742	hsa-miR-4433a-3p	HITS-CLIP	23706177
MIRT475740	hsa-miR-3664-3p	HITS-CLIP	23706177
MIRT475739	hsa-miR-4680-5p	HITS-CLIP	23706177
MIRT475738	hsa-miR-4537	HITS-CLIP	23706177
MIRT475737	hsa-let-7a-5p	HITS-CLIP	23706177
MIRT475736	hsa-let-7b-5p	HITS-CLIP	23706177
MIRT475735	hsa-let-7c-5p	HITS-CLIP	23706177
MIRT475734	hsa-let-7d-5p	HITS-CLIP	23706177
MIRT475733	hsa-let-7e-5p	HITS-CLIP	23706177
MIRT475732	hsa-let-7f-5p	HITS-CLIP	23706177
MIRT475731	hsa-let-7g-5p	HITS-CLIP	23706177
MIRT475730	hsa-let-7i-5p	HITS-CLIP	23706177
MIRT475728	hsa-miR-4458	HITS-CLIP	23706177
MIRT475729	hsa-miR-4500	HITS-CLIP	23706177
MIRT475727	hsa-miR-98-5p	HITS-CLIP	23706177
MIRT475726	hsa-miR-377-5p	HITS-CLIP	23706177
MIRT475725	hsa-miR-6086	HITS-CLIP	23706177
MIRT475724	hsa-miR-6499-3p	HITS-CLIP	23706177
MIRT475723	hsa-miR-4451	HITS-CLIP	23706177
MIRT682501	hsa-miR-7158-3p	HITS-CLIP	23706177
MIRT682500	hsa-miR-203b-3p	HITS-CLIP	23706177
MIRT475722	hsa-miR-455-3p	HITS-CLIP	23706177
MIRT475721	hsa-miR-6516-5p	HITS-CLIP	23706177
MIRT475747	hsa-miR-510-5p	PAR-CLIP	23592263
MIRT475746	hsa-miR-3927-3p	PAR-CLIP	23592263
MIRT475745	hsa-miR-6831-5p	PAR-CLIP	23592263
MIRT475744	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT475743	hsa-miR-4459	PAR-CLIP	23592263
MIRT475742	hsa-miR-4433a-3p	PAR-CLIP	23592263
MIRT475741	hsa-miR-1292-3p	PAR-CLIP	23592263
MIRT475740	hsa-miR-3664-3p	PAR-CLIP	23592263
MIRT475739	hsa-miR-4680-5p	PAR-CLIP	23592263
MIRT475738	hsa-miR-4537	PAR-CLIP	23592263
MIRT475737	hsa-let-7a-5p	PAR-CLIP	23592263
MIRT475736	hsa-let-7b-5p	PAR-CLIP	23592263
MIRT475735	hsa-let-7c-5p	PAR-CLIP	23592263
MIRT475734	hsa-let-7d-5p	PAR-CLIP	23592263
MIRT475733	hsa-let-7e-5p	PAR-CLIP	23592263
MIRT475732	hsa-let-7f-5p	PAR-CLIP	23592263
MIRT475731	hsa-let-7g-5p	PAR-CLIP	23592263
MIRT475730	hsa-let-7i-5p	PAR-CLIP	23592263
MIRT475728	hsa-miR-4458	PAR-CLIP	23592263
MIRT475729	hsa-miR-4500	PAR-CLIP	23592263
MIRT475727	hsa-miR-98-5p	PAR-CLIP	23592263
MIRT475726	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT475725	hsa-miR-6086	PAR-CLIP	23592263
MIRT475724	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT475723	hsa-miR-4451	PAR-CLIP	23592263
MIRT475722	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT475721	hsa-miR-6516-5p	PAR-CLIP	23592263
MIRT735042	hsa-miR-370-3p	Luciferase reporter assayWestern blottingImmunoprecipitaion (IP)ImmunofluorescenceqRT-PCRIn situ hybridizationFlow cytometry	32999631
MIRT475747	hsa-miR-510-5p	HITS-CLIP	23706177
MIRT475746	hsa-miR-3927-3p	HITS-CLIP	23706177
MIRT475745	hsa-miR-6831-5p	HITS-CLIP	23706177
MIRT475744	hsa-miR-4768-3p	HITS-CLIP	23706177
MIRT475743	hsa-miR-4459	HITS-CLIP	23706177
MIRT475742	hsa-miR-4433a-3p	HITS-CLIP	23706177
MIRT475740	hsa-miR-3664-3p	HITS-CLIP	23706177
MIRT475739	hsa-miR-4680-5p	HITS-CLIP	23706177
MIRT475738	hsa-miR-4537	HITS-CLIP	23706177
MIRT475737	hsa-let-7a-5p	HITS-CLIP	23706177
MIRT475736	hsa-let-7b-5p	HITS-CLIP	23706177
MIRT475735	hsa-let-7c-5p	HITS-CLIP	23706177
MIRT475734	hsa-let-7d-5p	HITS-CLIP	23706177
MIRT475733	hsa-let-7e-5p	HITS-CLIP	23706177
MIRT475732	hsa-let-7f-5p	HITS-CLIP	23706177
MIRT475731	hsa-let-7g-5p	HITS-CLIP	23706177
MIRT475730	hsa-let-7i-5p	HITS-CLIP	23706177
MIRT475728	hsa-miR-4458	HITS-CLIP	23706177
MIRT475729	hsa-miR-4500	HITS-CLIP	23706177
MIRT475727	hsa-miR-98-5p	HITS-CLIP	23706177
MIRT475726	hsa-miR-377-5p	HITS-CLIP	23706177
MIRT475725	hsa-miR-6086	HITS-CLIP	23706177
MIRT475724	hsa-miR-6499-3p	HITS-CLIP	23706177
MIRT475723	hsa-miR-4451	HITS-CLIP	23706177
MIRT682501	hsa-miR-7158-3p	HITS-CLIP	23706177
MIRT682500	hsa-miR-203b-3p	HITS-CLIP	23706177
MIRT475722	hsa-miR-455-3p	HITS-CLIP	23706177
MIRT475721	hsa-miR-6516-5p	HITS-CLIP	23706177
MIRT475747	hsa-miR-510-5p	PAR-CLIP	23592263
MIRT475746	hsa-miR-3927-3p	PAR-CLIP	23592263
MIRT475745	hsa-miR-6831-5p	PAR-CLIP	23592263
MIRT475744	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT475743	hsa-miR-4459	PAR-CLIP	23592263
MIRT475742	hsa-miR-4433a-3p	PAR-CLIP	23592263
MIRT475741	hsa-miR-1292-3p	PAR-CLIP	23592263
MIRT475740	hsa-miR-3664-3p	PAR-CLIP	23592263
MIRT475739	hsa-miR-4680-5p	PAR-CLIP	23592263
MIRT475738	hsa-miR-4537	PAR-CLIP	23592263
MIRT475737	hsa-let-7a-5p	PAR-CLIP	23592263
MIRT475736	hsa-let-7b-5p	PAR-CLIP	23592263
MIRT475735	hsa-let-7c-5p	PAR-CLIP	23592263
MIRT475734	hsa-let-7d-5p	PAR-CLIP	23592263
MIRT475733	hsa-let-7e-5p	PAR-CLIP	23592263
MIRT475732	hsa-let-7f-5p	PAR-CLIP	23592263
MIRT475731	hsa-let-7g-5p	PAR-CLIP	23592263
MIRT475730	hsa-let-7i-5p	PAR-CLIP	23592263
MIRT475728	hsa-miR-4458	PAR-CLIP	23592263
MIRT475729	hsa-miR-4500	PAR-CLIP	23592263
MIRT475727	hsa-miR-98-5p	PAR-CLIP	23592263
MIRT475726	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT475725	hsa-miR-6086	PAR-CLIP	23592263
MIRT475724	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT475723	hsa-miR-4451	PAR-CLIP	23592263
MIRT475722	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT475721	hsa-miR-6516-5p	PAR-CLIP	23592263
MIRT1044434	hsa-miR-1253	CLIP-seq
MIRT1044435	hsa-miR-3120-3p	CLIP-seq
MIRT1044436	hsa-miR-3148	CLIP-seq
MIRT1044437	hsa-miR-3166	CLIP-seq
MIRT1044438	hsa-miR-3617	CLIP-seq
MIRT1044439	hsa-miR-3978	CLIP-seq
MIRT1044440	hsa-miR-4326	CLIP-seq
MIRT1044441	hsa-miR-4643	CLIP-seq
MIRT1044442	hsa-miR-4771	CLIP-seq
MIRT1044443	hsa-miR-548u	CLIP-seq
MIRT1044444	hsa-miR-548v	CLIP-seq
MIRT1044445	hsa-miR-641	CLIP-seq
MIRT1044446	hsa-miR-126	CLIP-seq
MIRT1044447	hsa-miR-198	CLIP-seq
MIRT1044448	hsa-miR-3149	CLIP-seq
MIRT1044449	hsa-miR-4317	CLIP-seq
MIRT1044450	hsa-miR-4530	CLIP-seq
MIRT1044451	hsa-miR-4659a-5p	CLIP-seq
MIRT1044452	hsa-miR-4659b-5p	CLIP-seq
MIRT1044453	hsa-miR-4762-5p	CLIP-seq
MIRT1044454	hsa-miR-4776-3p	CLIP-seq
MIRT1044455	hsa-miR-487b	CLIP-seq
MIRT1044456	hsa-miR-544	CLIP-seq
MIRT1044457	hsa-miR-548ac	CLIP-seq
MIRT1044458	hsa-miR-548ae	CLIP-seq
MIRT1044459	hsa-miR-548aj	CLIP-seq
MIRT1044460	hsa-miR-548am	CLIP-seq
MIRT1044461	hsa-miR-548d-3p	CLIP-seq
MIRT1044462	hsa-miR-548x	CLIP-seq
MIRT1044463	hsa-miR-548z	CLIP-seq
MIRT1044464	hsa-miR-617	CLIP-seq
MIRT1044465	hsa-miR-634	CLIP-seq
MIRT1044466	hsa-miR-922	CLIP-seq
MIRT1549480	hsa-miR-376c	CLIP-seq
MIRT1549481	hsa-miR-4477a	CLIP-seq
MIRT1549482	hsa-miR-4753-5p	CLIP-seq
MIRT1549483	hsa-miR-520f	CLIP-seq
MIRT1044449	hsa-miR-4317	CLIP-seq
MIRT1044451	hsa-miR-4659a-5p	CLIP-seq
MIRT1044452	hsa-miR-4659b-5p	CLIP-seq
MIRT1044454	hsa-miR-4776-3p	CLIP-seq
MIRT1044457	hsa-miR-548ac	CLIP-seq
MIRT1044458	hsa-miR-548ae	CLIP-seq
MIRT1044459	hsa-miR-548aj	CLIP-seq
MIRT1044460	hsa-miR-548am	CLIP-seq
MIRT1044461	hsa-miR-548d-3p	CLIP-seq
MIRT1044462	hsa-miR-548x	CLIP-seq
MIRT1044463	hsa-miR-548z	CLIP-seq
MIRT1044437	hsa-miR-3166	CLIP-seq
MIRT2009683	hsa-miR-370	CLIP-seq
MIRT2009684	hsa-miR-3908	CLIP-seq
MIRT2009685	hsa-miR-3942-5p	CLIP-seq
MIRT1044441	hsa-miR-4643	CLIP-seq
MIRT2009686	hsa-miR-4703-5p	CLIP-seq
MIRT2009687	hsa-miR-4766-3p	CLIP-seq
MIRT1044442	hsa-miR-4771	CLIP-seq
MIRT1044456	hsa-miR-544	CLIP-seq
MIRT1044464	hsa-miR-617	CLIP-seq
MIRT2241973	hsa-miR-1178	CLIP-seq
MIRT2241974	hsa-miR-1208	CLIP-seq
MIRT2241975	hsa-miR-1245b-5p	CLIP-seq
MIRT1044434	hsa-miR-1253	CLIP-seq
MIRT1044446	hsa-miR-126	CLIP-seq
MIRT2241976	hsa-miR-142-5p	CLIP-seq
MIRT1044435	hsa-miR-3120-3p	CLIP-seq
MIRT2241977	hsa-miR-3142	CLIP-seq
MIRT1044436	hsa-miR-3148	CLIP-seq
MIRT1044437	hsa-miR-3166	CLIP-seq
MIRT2241978	hsa-miR-3189-3p	CLIP-seq
MIRT2241979	hsa-miR-320a	CLIP-seq
MIRT2241980	hsa-miR-320b	CLIP-seq
MIRT2241981	hsa-miR-320c	CLIP-seq
MIRT2241982	hsa-miR-320d	CLIP-seq
MIRT2241983	hsa-miR-330-3p	CLIP-seq
MIRT2241984	hsa-miR-340	CLIP-seq
MIRT2241985	hsa-miR-3591-3p	CLIP-seq
MIRT2241986	hsa-miR-3591-5p	CLIP-seq
MIRT1044438	hsa-miR-3617	CLIP-seq
MIRT1549480	hsa-miR-376c	CLIP-seq
MIRT2241987	hsa-miR-3945	CLIP-seq
MIRT1044439	hsa-miR-3978	CLIP-seq
MIRT2241988	hsa-miR-410	CLIP-seq
MIRT2241989	hsa-miR-4253	CLIP-seq
MIRT2241990	hsa-miR-4280	CLIP-seq
MIRT1044449	hsa-miR-4317	CLIP-seq
MIRT1044440	hsa-miR-4326	CLIP-seq
MIRT2241991	hsa-miR-4421	CLIP-seq
MIRT2241992	hsa-miR-4422	CLIP-seq
MIRT2241993	hsa-miR-4429	CLIP-seq
MIRT1549481	hsa-miR-4477a	CLIP-seq
MIRT2241994	hsa-miR-452	CLIP-seq
MIRT1044450	hsa-miR-4530	CLIP-seq
MIRT1044441	hsa-miR-4643	CLIP-seq
MIRT1044451	hsa-miR-4659a-5p	CLIP-seq
MIRT1044452	hsa-miR-4659b-5p	CLIP-seq
MIRT2241995	hsa-miR-4676-3p	CLIP-seq
MIRT2241996	hsa-miR-4719	CLIP-seq
MIRT1549482	hsa-miR-4753-5p	CLIP-seq
MIRT1044453	hsa-miR-4762-5p	CLIP-seq
MIRT1044442	hsa-miR-4771	CLIP-seq
MIRT1044454	hsa-miR-4776-3p	CLIP-seq
MIRT1044455	hsa-miR-487b	CLIP-seq
MIRT1549483	hsa-miR-520f	CLIP-seq
MIRT2241997	hsa-miR-543	CLIP-seq
MIRT1044456	hsa-miR-544	CLIP-seq
MIRT2241998	hsa-miR-548a-5p	CLIP-seq
MIRT2241999	hsa-miR-548ab	CLIP-seq
MIRT1044457	hsa-miR-548ac	CLIP-seq
MIRT1044458	hsa-miR-548ae	CLIP-seq
MIRT1044459	hsa-miR-548aj	CLIP-seq
MIRT2242000	hsa-miR-548ak	CLIP-seq
MIRT1044460	hsa-miR-548am	CLIP-seq
MIRT2242001	hsa-miR-548b-5p	CLIP-seq
MIRT2242002	hsa-miR-548c-5p	CLIP-seq
MIRT1044461	hsa-miR-548d-3p	CLIP-seq
MIRT2242003	hsa-miR-548d-5p	CLIP-seq
MIRT2242004	hsa-miR-548h	CLIP-seq
MIRT2242005	hsa-miR-548i	CLIP-seq
MIRT2242006	hsa-miR-548j	CLIP-seq
MIRT2242007	hsa-miR-548k	CLIP-seq
MIRT2242008	hsa-miR-548l	CLIP-seq
MIRT1044443	hsa-miR-548u	CLIP-seq
MIRT1044444	hsa-miR-548v	CLIP-seq
MIRT2242009	hsa-miR-548w	CLIP-seq
MIRT1044462	hsa-miR-548x	CLIP-seq
MIRT2242010	hsa-miR-548y	CLIP-seq
MIRT1044463	hsa-miR-548z	CLIP-seq
MIRT2242011	hsa-miR-559	CLIP-seq
MIRT1044464	hsa-miR-617	CLIP-seq
MIRT1044465	hsa-miR-634	CLIP-seq
MIRT2242012	hsa-miR-635	CLIP-seq
MIRT1044445	hsa-miR-641	CLIP-seq
MIRT2242013	hsa-miR-656	CLIP-seq
MIRT1044466	hsa-miR-922	CLIP-seq
MIRT1044441	hsa-miR-4643	CLIP-seq
MIRT1044464	hsa-miR-617	CLIP-seq

Show/Hide all (39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000836	Component	Hrd1p ubiquitin ligase complex	IDA	28827405
GO:0005515	Function	Protein binding	IPI	18307982, 28827405
GO:0005783	Component	Endoplasmic reticulum	IDA	15102845, 19788048, 22045699
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	10922362
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IBA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IEA
GO:0006874	Process	Intracellular calcium ion homeostasis	IEA
GO:0006986	Process	Response to unfolded protein	IEA
GO:0006986	Process	Response to unfolded protein	IEP	10708769, 10922362
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	IBA
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	IEA
GO:0030970	Process	Retrograde protein transport, ER to cytosol	IMP	25660456
GO:0031396	Process	Regulation of protein ubiquitination	IEA
GO:0032469	Process	Endoplasmic reticulum calcium ion homeostasis	IBA
GO:0032469	Process	Endoplasmic reticulum calcium ion homeostasis	IDA	15102845, 22045699
GO:0034976	Process	Response to endoplasmic reticulum stress	IEA
GO:0034976	Process	Response to endoplasmic reticulum stress	TAS	19788048
GO:0036503	Process	ERAD pathway	IMP	28827405
GO:0044322	Component	Endoplasmic reticulum quality control compartment	IEA
GO:0044325	Function	Transmembrane transporter binding	IBA
GO:0044325	Function	Transmembrane transporter binding	IPI	22045699
GO:0045047	Process	Protein targeting to ER	IEA
GO:1902235	Process	Regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IEA
GO:1902236	Process	Negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IBA
GO:1902236	Process	Negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IDA	15102845
GO:1904292	Process	Regulation of ERAD pathway	IBA
GO:1904292	Process	Regulation of ERAD pathway	IEA
GO:1904294	Process	Positive regulation of ERAD pathway	IDA	22045699
GO:1904294	Process	Positive regulation of ERAD pathway	IMP	18307982
GO:1990037	Component	Lewy body core	IDA	19788048
GO:1990756	Function	Ubiquitin-like ligase-substrate adaptor activity	IEA
GO:2000060	Process	Positive regulation of ubiquitin-dependent protein catabolic process	IDA	22045699
GO:2001243	Process	Negative regulation of intrinsic apoptotic signaling pathway	IGI	22045699

MIM	HGNC	e!Ensembl
608070	13744	ENSG00000051108

Q15011

Protein name

Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein (Methyl methanesulfonate (MMF)-inducible fragment protein 1)

Protein function

Component of the endoplasmic reticulum quality control (ERQC) system also called ER-associated degradation (ERAD) involved in ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins (PubMed:16289116, PubMed:28827405). Could e

PDB

1WGD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00240	ubiquitin	12 → 89	Ubiquitin family	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed; in the brain, expression seems to be restricted to neurons and vascular smooth muscle cells. Present in activated microglia in senile plaques in the brain of patients with Alzheimer disease.

Sequence

MESETEPEPVTLLVKSPNQRHRDLELSGDRGWSVGHLKAHLSRVYPERPRPEDQRLIYSG
KLLLDHQCLRDLLPKQEKRHVLHLVCNVKSPSKMPEINAKVAESTEEPAGSNRGQYPEDS
SSDGLRQREVLRNLSSPGWENISRPEAAQQAFQGLGPGFSGYTPYGWLQLSWFQQIYARQ
YYMQYLAATAASGAFVPPPSAQEIPVVSAPAPAPIHNQFPAENQPANQNAAPQVVVNPGA
NQNLRMNAQGGPIVEEDDEINRDWLDWTYSAATFSVFLSILYFYSSLSRFLMVMGATVVM
YLHHVGWFPFRPRPVQNFPNDGPPPDVVNQDPNNNLQEGTDPETEDPNHLPPDRDVLDGE
QTSPSFMSTAWLVFKTFFASLLPEGPPAIAN

Sequence length

391

Interactions

View interactions

	KEGG		Reactome
	Protein processing in endoplasmic reticulum		ATF4 activates genes in response to endoplasmic reticulum stress

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 Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hereditary breast ovarian cancer syndrome	Pathogenic	rs2144823719	RCV001374513	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (19)

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.
ATHEROSCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATROPHIC MACULAR DEGENERATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPIDEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DEGENERATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROLITHIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WET MACULAR DEGENERATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (52)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	17471166, 20470859, 25812605, 28000876, 30380185		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	20470859, 25812605, 28000876, 30380185		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	11004694		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	3025859		★★★★★ ★☆☆☆☆ Found in Text Mining only
alpha 1-Antitrypsin Deficiency	Alpha 1-Antitrypsin Deficiency	BEFREE	28617828		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	30383785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	3258841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	29207374	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1	Lymphoblastic Leukemia	BEFREE	11097354, 22895079, 26317515, 2833755, 29578162		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	11062688, 16357168		★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	10828444		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	21503571	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	11062688, 11435891, 16357168		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	20470859, 25812605, 28000876, 30380185		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholelithiasis	Pubtator	28617828	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	3469019		★★★★★ ★☆☆☆☆ Found in Text Mining only
Drusen	Drusen	BEFREE	26823705		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	31718641		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	31718641	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28430789		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	28430789	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatomegaly	Hepatomegaly	Pubtator	28617828	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	11004694, 2554995		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	20164556		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	15588951, 30545064		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	26317515, 30611980		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	11997524		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	19788048	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	28617828		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	28617828	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	30188005, 7691638		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	31718641		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	12483528		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17013881		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	11062688, 16357168		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29207374, 3469019		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	30383785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	30545064		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myositis Inclusion Body	Myositis	Pubtator	16441512	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12483528, 12778082, 28469959, 29109091, 3469019		★★★★★ ★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C1	Sphingomyelinase deficiency	BEFREE	26818574		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	36544104	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	19788048		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	19788048	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	20604806	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	19788048		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	30817129		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12483528		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17013881		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Reactive systemic amyloidosis	Reactive Systemic Amyloidosis	BEFREE	20164556		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	28667353		★★★★★ ★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	16357168		★★★★★ ★☆☆☆☆ Found in Text Mining only

HERPUD1 (homocysteine inducible ER protein with ubiquitin like domain 1)