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	57531
Gene name	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1
Gene symbol	HACE1
Synonyms (NCBI Gene)	SPPRS
Chromosome	6
Chromosome location	6q16.3
Summary	This gene encodes a HECT domain and ankyrin repeat-containing ubiquitin ligase. The encoded protein is involved in specific tagging of target proteins, leading to their subcellular localization or proteasomal degradation. The protein is a potential tumor

Show/Hide all (14)

SNP ID	Visualize variation	Clinical significance	Consequence
rs750371878	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs751809418	TG>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs761086584	G>A,T	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant, synonymous variant, non coding transcript variant
rs761703540	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs869025280	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant
rs869025281	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs869025283	GAA>-	Pathogenic	Inframe deletion, coding sequence variant, non coding transcript variant
rs869025284	G>A	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant, intron variant, synonymous variant, non coding transcript variant
rs1337798545	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554244625	T>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554245388	CTGTACAC>-	Likely-pathogenic	Splice donor variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, intron variant
rs1554263840	A>C	Likely-pathogenic	Splice donor variant
rs1582418143	G>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1582771457	G>T	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant

175

Show/Hide all (175)

miRTarBase ID	miRNA	Experiments	Reference
MIRT000855	hsa-miR-15a-5p	Microarray	18362358
MIRT000854	hsa-miR-16-5p	Microarray	18362358
MIRT016517	hsa-miR-193b-3p	Microarray	20304954
MIRT097927	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT708113	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT708112	hsa-miR-567	HITS-CLIP	21572407
MIRT238687	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT097918	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT097925	hsa-miR-3924	HITS-CLIP	21572407
MIRT708111	hsa-miR-297	HITS-CLIP	21572407
MIRT708109	hsa-miR-6083	HITS-CLIP	21572407
MIRT675640	hsa-miR-4797-5p	HITS-CLIP	23824327
MIRT675639	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT675638	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT675637	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT675636	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT675635	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT675634	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT675633	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT675632	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT675631	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT675630	hsa-miR-612	HITS-CLIP	23824327
MIRT675629	hsa-miR-6860	HITS-CLIP	23824327
MIRT675628	hsa-miR-4424	HITS-CLIP	23824327
MIRT675627	hsa-miR-4252	HITS-CLIP	23824327
MIRT675626	hsa-miR-661	HITS-CLIP	23824327
MIRT675625	hsa-miR-196a-3p	HITS-CLIP	23824327
MIRT675624	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT675623	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT675622	hsa-miR-7703	HITS-CLIP	23824327
MIRT623722	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT623721	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT623720	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT623719	hsa-miR-1179	HITS-CLIP	23824327
MIRT623718	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT484592	hsa-miR-6758-5p	PAR-CLIP	23592263
MIRT484593	hsa-miR-6856-5p	PAR-CLIP	23592263
MIRT484591	hsa-miR-1321	PAR-CLIP	23592263
MIRT484590	hsa-miR-4739	PAR-CLIP	23592263
MIRT484589	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT484588	hsa-miR-4419a	PAR-CLIP	23592263
MIRT484587	hsa-miR-4510	PAR-CLIP	23592263
MIRT484586	hsa-miR-6127	PAR-CLIP	23592263
MIRT484585	hsa-miR-6129	PAR-CLIP	23592263
MIRT484584	hsa-miR-6130	PAR-CLIP	23592263
MIRT484583	hsa-miR-6133	PAR-CLIP	23592263
MIRT484582	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT484581	hsa-miR-4306	PAR-CLIP	23592263
MIRT484580	hsa-miR-4644	PAR-CLIP	23592263
MIRT484579	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT484578	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT484576	hsa-miR-8085	PAR-CLIP	23592263
MIRT484577	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT484575	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT484574	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT484573	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT484572	hsa-miR-3175	PAR-CLIP	23592263
MIRT484571	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT484570	hsa-miR-5698	PAR-CLIP	23592263
MIRT484569	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT484567	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT484568	hsa-miR-6795-5p	PAR-CLIP	23592263
MIRT484566	hsa-miR-6887-5p	PAR-CLIP	23592263
MIRT675638	hsa-miR-1273g-3p	PAR-CLIP	27292025
MIRT675627	hsa-miR-4252	PAR-CLIP	27292025
MIRT097927	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT708113	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT708112	hsa-miR-567	HITS-CLIP	21572407
MIRT238687	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT097918	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT097925	hsa-miR-3924	HITS-CLIP	21572407
MIRT708111	hsa-miR-297	HITS-CLIP	21572407
MIRT708109	hsa-miR-6083	HITS-CLIP	21572407
MIRT675640	hsa-miR-4797-5p	HITS-CLIP	23824327
MIRT675639	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT675638	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT675637	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT675636	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT675635	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT675634	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT675633	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT675632	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT675631	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT675630	hsa-miR-612	HITS-CLIP	23824327
MIRT675629	hsa-miR-6860	HITS-CLIP	23824327
MIRT675628	hsa-miR-4424	HITS-CLIP	23824327
MIRT675627	hsa-miR-4252	HITS-CLIP	23824327
MIRT675626	hsa-miR-661	HITS-CLIP	23824327
MIRT675625	hsa-miR-196a-3p	HITS-CLIP	23824327
MIRT675624	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT675623	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT675622	hsa-miR-7703	HITS-CLIP	23824327
MIRT623722	hsa-miR-452-5p	HITS-CLIP	23824327
MIRT623721	hsa-miR-4676-3p	HITS-CLIP	23824327
MIRT623720	hsa-miR-892c-3p	HITS-CLIP	23824327
MIRT623719	hsa-miR-1179	HITS-CLIP	23824327
MIRT623718	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT484592	hsa-miR-6758-5p	PAR-CLIP	23592263
MIRT484593	hsa-miR-6856-5p	PAR-CLIP	23592263
MIRT484591	hsa-miR-1321	PAR-CLIP	23592263
MIRT484590	hsa-miR-4739	PAR-CLIP	23592263
MIRT484589	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT484588	hsa-miR-4419a	PAR-CLIP	23592263
MIRT484587	hsa-miR-4510	PAR-CLIP	23592263
MIRT484586	hsa-miR-6127	PAR-CLIP	23592263
MIRT484585	hsa-miR-6129	PAR-CLIP	23592263
MIRT484584	hsa-miR-6130	PAR-CLIP	23592263
MIRT484583	hsa-miR-6133	PAR-CLIP	23592263
MIRT484582	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT484581	hsa-miR-4306	PAR-CLIP	23592263
MIRT484580	hsa-miR-4644	PAR-CLIP	23592263
MIRT484579	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT484578	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT484576	hsa-miR-8085	PAR-CLIP	23592263
MIRT484577	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT484575	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT484574	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT484573	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT484572	hsa-miR-3175	PAR-CLIP	23592263
MIRT484571	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT484570	hsa-miR-5698	PAR-CLIP	23592263
MIRT484569	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT484567	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT484568	hsa-miR-6795-5p	PAR-CLIP	23592263
MIRT484566	hsa-miR-6887-5p	PAR-CLIP	23592263
MIRT1040371	hsa-miR-1	CLIP-seq
MIRT1040372	hsa-miR-1297	CLIP-seq
MIRT1040373	hsa-miR-205	CLIP-seq
MIRT1040374	hsa-miR-206	CLIP-seq
MIRT1040375	hsa-miR-2467-3p	CLIP-seq
MIRT1040376	hsa-miR-26a	CLIP-seq
MIRT1040377	hsa-miR-26b	CLIP-seq
MIRT1040378	hsa-miR-3123	CLIP-seq
MIRT1040379	hsa-miR-340	CLIP-seq
MIRT1040380	hsa-miR-34a	CLIP-seq
MIRT1040381	hsa-miR-34c-5p	CLIP-seq
MIRT1040382	hsa-miR-3668	CLIP-seq
MIRT1040383	hsa-miR-3673	CLIP-seq
MIRT1040384	hsa-miR-376c	CLIP-seq
MIRT1040385	hsa-miR-4257	CLIP-seq
MIRT1040386	hsa-miR-4272	CLIP-seq
MIRT1040387	hsa-miR-4465	CLIP-seq
MIRT1040388	hsa-miR-449a	CLIP-seq
MIRT1040389	hsa-miR-449b	CLIP-seq
MIRT1040390	hsa-miR-4528	CLIP-seq
MIRT1040391	hsa-miR-4666-5p	CLIP-seq
MIRT1040392	hsa-miR-4694-3p	CLIP-seq
MIRT1040393	hsa-miR-4718	CLIP-seq
MIRT1040394	hsa-miR-4724-3p	CLIP-seq
MIRT1040395	hsa-miR-4775	CLIP-seq
MIRT1040396	hsa-miR-522	CLIP-seq
MIRT1040397	hsa-miR-584	CLIP-seq
MIRT1040398	hsa-miR-590-3p	CLIP-seq
MIRT1040399	hsa-miR-613	CLIP-seq
MIRT1040400	hsa-miR-935	CLIP-seq
MIRT1040391	hsa-miR-4666-5p	CLIP-seq
MIRT2008423	hsa-miR-4799-5p	CLIP-seq
MIRT2008424	hsa-miR-513a-3p	CLIP-seq
MIRT1040398	hsa-miR-590-3p	CLIP-seq
MIRT2008425	hsa-miR-622	CLIP-seq
MIRT2240906	hsa-miR-1207-3p	CLIP-seq
MIRT2240907	hsa-miR-1226	CLIP-seq
MIRT2240908	hsa-miR-1255a	CLIP-seq
MIRT2240909	hsa-miR-1255b	CLIP-seq
MIRT2240910	hsa-miR-1283	CLIP-seq
MIRT2240911	hsa-miR-1287	CLIP-seq
MIRT2240912	hsa-miR-193a-3p	CLIP-seq
MIRT2240913	hsa-miR-193b	CLIP-seq
MIRT2240914	hsa-miR-329	CLIP-seq
MIRT2240915	hsa-miR-362-3p	CLIP-seq
MIRT2240916	hsa-miR-616	CLIP-seq
MIRT2240917	hsa-miR-889	CLIP-seq
MIRT1040400	hsa-miR-935	CLIP-seq
MIRT2388894	hsa-miR-3143	CLIP-seq
MIRT2388895	hsa-miR-543	CLIP-seq

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IBA
GO:0000139	Component	Golgi membrane	IDA	21988917
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	21988917, 22036506
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0005515	Function	Protein binding	IPI	22614015, 25026213, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IBA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IDA	22036506
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IEA
GO:0007030	Process	Golgi organization	IBA
GO:0007030	Process	Golgi organization	IDA	21988917
GO:0016020	Component	Membrane	IEA
GO:0016567	Process	Protein ubiquitination	IDA	21988917
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016601	Process	Rac protein signal transduction	TAS	22036506
GO:0016604	Component	Nuclear body	IDA
GO:0016740	Function	Transferase activity	IEA
GO:0030334	Process	Regulation of cell migration	IMP	22036506
GO:0031267	Function	Small GTPase binding	IDA	21988917
GO:0031267	Function	Small GTPase binding	IPI	22036506
GO:0032580	Component	Golgi cisterna membrane	IEA
GO:0061025	Process	Membrane fusion	IBA
GO:0061025	Process	Membrane fusion	IMP	21988917
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0070936	Process	Protein K48-linked ubiquitination	IDA	22036506

MIM	HGNC	e!Ensembl
610876	21033	ENSG00000085382

Q8IYU2

Protein name

E3 ubiquitin-protein ligase HACE1 (EC 2.3.2.26) (HECT domain and ankyrin repeat-containing E3 ubiquitin-protein ligase 1) (HECT-type E3 ubiquitin transferase HACE1)

Protein function

E3 ubiquitin-protein ligase involved in Golgi membrane fusion and regulation of small GTPases (PubMed:15254018, PubMed:21988917, PubMed:22036506, PubMed:37537642, PubMed:38332367). Acts as a regulator of Golgi membrane dynamics during the cell c

PDB

8H8X , 8HAE , 8PWL , 8Q0N

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12796	Ank_2	34 → 128	Ankyrin repeats (3 copies)	Repeat
PF13637	Ank_4	131 → 184		Repeat
PF13637	Ank_4	164 → 217		Repeat
PF00632	HECT	602 → 909	HECT-domain (ubiquitin-transferase)	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in multiple tissues including heart, brain and kidney. {ECO:0000269|PubMed:15254018}.

Sequence

MERAMEQLNRLTRSLRRARTVELPEDNETAVYTLMPMVMADQHRSVSELLSNSKFDVNYA
FGRVKRSLLHIAANCGSVECLVLLLKKGANPNYQDISGCTPLHLAARNGQKKCMSKLLEY
SADVNICNNEGLTAIHWLAVNGRTELLHDLVQHVSDVDVEDAMGQTALHVACQNGHKTTV
QCLLDSGADINRPNVSGATPLYFACSHGQRDTAQILLLRGAKYLPDKNGVTPLDLCVQGG
YGETCEVLIQYHPRLFQTIIQMTQNEDLRENMLRQVLEHLSQQSESQYLKILTSLAEVAT
TNGHKLLSLSSNYDAQMKSLLRIVRMFCHVFRIGPSSPSNGIDMGYNGNKTPRSQVFKPL
ELLWHSLDEWLVLIATELMKNKRDSTEITSILLKQKGQDQDAASIPPFEPPGPGSYENLS
TGTRESKPDALAGRQEASADCQDVISMTANRLSAVIQAFYMCCSCQMPPGMTSPRFIEFV
CKHDEVLKCFVNRNPKIIFDHFHFLLECPELMSRFMHIIKAQPFKDRCEWFYEHLHSGQP
DSDMVHRPVNENDILLVHRDSIFRSSCEVVSKANCAKLKQGIAVRFHGEEGMGQGVVREW
FDILSNEIVNPDYALFTQSADGTTFQPNSNSYVNPDHLNYFRFAGQILGLALNHRQLVNI
YFTRSFYKHILGIPVNYQDVASIDPEYAKNLQWILDNDISDLGLELTFSVETDVFGAMEE
VPLKPGGGSILVTQNNKAEYVQLVTELRMTRAIQPQINAFLQGFHMFIPPSLIQLFDEYE
LELLLSGMPEIDVSDWIKNTEYTSGYEREDPVIQWFWEVVEDITQEERVLLLQFVTGSSR
VPHGGFANIMGGSGLQNFTIAAVPYTPNLLPTSSTCINMLKLPEYPSKEILKDRLLVALH
CGSYGYTMA

Sequence length

909

Interactions

View interactions

	Reactome
			Antigen processing: Ubiquitination & Proteasome degradation

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 (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Generalized hypotonia	Pathogenic	rs750371878	RCV001003961	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Pathogenic	rs750371878	RCV001003961	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HACE1-related disorder	Likely pathogenic	rs1783022008	RCV003414345	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic	rs750371878	RCV005625446	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Psychomotor retardation	Likely pathogenic	rs1582771457	RCV000788088	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Pathogenic	rs750371878	RCV001003961	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic paraplegia-severe developmental delay-epilepsy syndrome	Pathogenic; Likely pathogenic	rs1319508199, rs2114793034, rs2115167557, rs2484021103, rs869025280, rs869025281, rs751809418, rs869025284, rs750371878, rs761086584, rs2483372241, rs2483143302, rs1337798545, rs1582418143, rs759641985	RCV001823786 RCV001782244 RCV002274460 RCV002287613 RCV000207128 View all (10 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (28)

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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC VALVE STENOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR SALIVARY GLAND CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR SALIVARY GLAND CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA	—	CTD, GWAS catalog, Orphanet CTD, GWAS catalog, Orphanet CTD, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic adenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (72)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Atrophy	Atrophy	Pubtator	28584243	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	27107267		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30659265		★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	28651105		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	18630515, 19528486		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33455098	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	18630515	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	18630515, 19528486, 29515254, 30362561		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	18630515, 19528486	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	26424145, 36553453	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Exophoria	Exophoria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal myoclonic seizures	Focal myoclonic seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	19965620, 23142381	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	34815381	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Huntington Disease	Huntington Disease	BEFREE	24516159, 29121340		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	36553453	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intestinal Diseases	Intestinal disease	Pubtator	28584243	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	27002759	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Large Granular Lymphocytic	Lymphoblastic Leukemia	BEFREE	26975038		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	18630515, 19528486, 33455098	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	28651105		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30659265		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	30988809		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29673126		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17694067, 23142381, 26424145, 28317937, 30827236, 30988809		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	29515254		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASCAT_DG	23412934		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	23412934		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	33455098	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15254018, 17694067, 18630515, 19528486, 19965620, 23142381, 24516159, 25026213, 25203537, 26424145, 26975038, 27107267, 28317937, 28651105, 29515254 View all (4 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	19948536, 29243987		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Neoplasms	Nervous System Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural crest tumor	Neural Crest Tumor	ORPHANET_DG	22911191		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	ORPHANET_DG	22911191		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	BEFREE	22941191		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	CTD_human_DG	22941191		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	GWASDB_DG	22941191		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	GWASCAT_DG	22941191		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	Pubtator	22941191, 23222812	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	26424145		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30622235		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	36553453	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	30787155	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	GENOMICS_ENGLAND_DG	26437029		★★★★★ ★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES	Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	GENOMICS_ENGLAND_DG	26424145, 26437029		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES	Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	ORPHANET_DG	26424145, 26437029		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES	Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia-severe developmental delay-epilepsy syndrome	Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stomach Carcinoma	Stomach Carcinoma	BEFREE	19528486, 29673126		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	19528486, 35343092	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	28584243	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	25203537		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	34092745	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	18630515	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only

HACE1 (HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1)