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	81603
Gene name	Tripartite motif containing 8
Gene symbol	TRIM8
Synonyms (NCBI Gene)	FSGSNEDSGERPRNF27
Chromosome	10
Chromosome location	10q24.32
Summary	This gene encodes a member of the tripartite motif (TRIM) protein family. Based on similarities to other proteins, the encoded protein is suspected to be an E3 ubiquitin-protein ligase. Regulation of this gene may be altered in some cancers. Mutations res

157

Show/Hide all (157)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018878	hsa-miR-335-5p	Microarray	18185580
MIRT025917	hsa-miR-7-5p	Microarray	19073608
MIRT051030	hsa-miR-17-5p	CLASH	23622248
MIRT048914	hsa-miR-93-5p	CLASH	23622248
MIRT261132	hsa-miR-656-3p	PAR-CLIP	21572407
MIRT261131	hsa-miR-126-5p	PAR-CLIP	21572407
MIRT553360	hsa-miR-130b-5p	PAR-CLIP	21572407
MIRT553359	hsa-miR-3140-3p	PAR-CLIP	21572407
MIRT261133	hsa-miR-889-3p	PAR-CLIP	21572407
MIRT261134	hsa-miR-4477a	PAR-CLIP	21572407
MIRT261135	hsa-miR-4795-3p	PAR-CLIP	21572407
MIRT553358	hsa-miR-4753-3p	PAR-CLIP	21572407
MIRT553357	hsa-miR-4768-5p	PAR-CLIP	21572407
MIRT553356	hsa-miR-6833-3p	PAR-CLIP	21572407
MIRT553355	hsa-miR-6809-3p	PAR-CLIP	21572407
MIRT553354	hsa-miR-6885-3p	PAR-CLIP	21572407
MIRT125727	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT125725	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT125727	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT051030	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT125734	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT048914	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT125745	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT125725	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT051030	hsa-miR-17-5p	Luciferase reporter assayqRT-PCRWestern blot	28327152
MIRT051030	hsa-miR-17-5p	Luciferase reporter assayqRT-PCRWestern blot	28327152
MIRT125727	hsa-miR-106b-5p	Luciferase reporter assayqRT-PCRWestern blot	28327152
MIRT125727	hsa-miR-106b-5p	Luciferase reporter assayqRT-PCRWestern blot	28327152
MIRT051030	hsa-miR-17-5p	Luciferase reporter assayqRT-PCR	26077989
MIRT261132	hsa-miR-656-3p	PAR-CLIP	21572407
MIRT261131	hsa-miR-126-5p	PAR-CLIP	21572407
MIRT553360	hsa-miR-130b-5p	PAR-CLIP	21572407
MIRT553359	hsa-miR-3140-3p	PAR-CLIP	21572407
MIRT261133	hsa-miR-889-3p	PAR-CLIP	21572407
MIRT261134	hsa-miR-4477a	PAR-CLIP	21572407
MIRT261135	hsa-miR-4795-3p	PAR-CLIP	21572407
MIRT553358	hsa-miR-4753-3p	PAR-CLIP	21572407
MIRT553357	hsa-miR-4768-5p	PAR-CLIP	21572407
MIRT553356	hsa-miR-6833-3p	PAR-CLIP	21572407
MIRT553355	hsa-miR-6809-3p	PAR-CLIP	21572407
MIRT553354	hsa-miR-6885-3p	PAR-CLIP	21572407
MIRT1456115	hsa-miR-1	CLIP-seq
MIRT1456116	hsa-miR-1245	CLIP-seq
MIRT1456117	hsa-miR-1252	CLIP-seq
MIRT1456118	hsa-miR-1253	CLIP-seq
MIRT1456119	hsa-miR-1273e	CLIP-seq
MIRT1456120	hsa-miR-1288	CLIP-seq
MIRT1456121	hsa-miR-1290	CLIP-seq
MIRT1456122	hsa-miR-206	CLIP-seq
MIRT1456123	hsa-miR-3150b-3p	CLIP-seq
MIRT1456124	hsa-miR-3154	CLIP-seq
MIRT1456125	hsa-miR-3167	CLIP-seq
MIRT1456126	hsa-miR-3192	CLIP-seq
MIRT1456127	hsa-miR-3199	CLIP-seq
MIRT1456128	hsa-miR-3545-3p	CLIP-seq
MIRT1456129	hsa-miR-3650	CLIP-seq
MIRT1456130	hsa-miR-3661	CLIP-seq
MIRT1456131	hsa-miR-3673	CLIP-seq
MIRT1456132	hsa-miR-3677-5p	CLIP-seq
MIRT1456133	hsa-miR-3915	CLIP-seq
MIRT1456134	hsa-miR-3927	CLIP-seq
MIRT1456135	hsa-miR-3928	CLIP-seq
MIRT1456136	hsa-miR-3974	CLIP-seq
MIRT1456137	hsa-miR-4276	CLIP-seq
MIRT1456138	hsa-miR-4305	CLIP-seq
MIRT1456139	hsa-miR-4314	CLIP-seq
MIRT1456140	hsa-miR-4426	CLIP-seq
MIRT1456141	hsa-miR-4434	CLIP-seq
MIRT1456142	hsa-miR-4476	CLIP-seq
MIRT1456143	hsa-miR-4516	CLIP-seq
MIRT1456144	hsa-miR-4646-5p	CLIP-seq
MIRT1456145	hsa-miR-4647	CLIP-seq
MIRT1456146	hsa-miR-4648	CLIP-seq
MIRT1456147	hsa-miR-4662b	CLIP-seq
MIRT1456148	hsa-miR-4680-5p	CLIP-seq
MIRT1456149	hsa-miR-4689	CLIP-seq
MIRT1456150	hsa-miR-4710	CLIP-seq
MIRT1456151	hsa-miR-4722-5p	CLIP-seq
MIRT1456152	hsa-miR-4747-5p	CLIP-seq
MIRT1456153	hsa-miR-4768-3p	CLIP-seq
MIRT1456154	hsa-miR-4784	CLIP-seq
MIRT1456155	hsa-miR-4792	CLIP-seq
MIRT1456156	hsa-miR-4795-5p	CLIP-seq
MIRT1456157	hsa-miR-486-3p	CLIP-seq
MIRT1456158	hsa-miR-539	CLIP-seq
MIRT1456159	hsa-miR-548m	CLIP-seq
MIRT1456160	hsa-miR-550b	CLIP-seq
MIRT1456161	hsa-miR-570	CLIP-seq
MIRT1456162	hsa-miR-580	CLIP-seq
MIRT1456163	hsa-miR-613	CLIP-seq
MIRT1456164	hsa-miR-631	CLIP-seq
MIRT1456165	hsa-miR-876-5p	CLIP-seq
MIRT2136710	hsa-miR-2355-5p	CLIP-seq
MIRT2136711	hsa-miR-3065-5p	CLIP-seq
MIRT2136712	hsa-miR-3125	CLIP-seq
MIRT2136713	hsa-miR-3148	CLIP-seq
MIRT1456123	hsa-miR-3150b-3p	CLIP-seq
MIRT2136714	hsa-miR-3179	CLIP-seq
MIRT2136715	hsa-miR-3193	CLIP-seq
MIRT2136716	hsa-miR-3611	CLIP-seq
MIRT2136717	hsa-miR-3667-3p	CLIP-seq
MIRT2136718	hsa-miR-370	CLIP-seq
MIRT2136719	hsa-miR-3916	CLIP-seq
MIRT2136720	hsa-miR-4271	CLIP-seq
MIRT2136721	hsa-miR-4446-3p	CLIP-seq
MIRT2136722	hsa-miR-4455	CLIP-seq
MIRT2136723	hsa-miR-4533	CLIP-seq
MIRT2136724	hsa-miR-4645-5p	CLIP-seq
MIRT2136725	hsa-miR-4667-3p	CLIP-seq
MIRT2136726	hsa-miR-4668-3p	CLIP-seq
MIRT2136727	hsa-miR-4673	CLIP-seq
MIRT2136728	hsa-miR-4675	CLIP-seq
MIRT2136729	hsa-miR-4691-3p	CLIP-seq
MIRT2136730	hsa-miR-4698	CLIP-seq
MIRT2136731	hsa-miR-4725-3p	CLIP-seq
MIRT2136732	hsa-miR-4738-5p	CLIP-seq
MIRT2136733	hsa-miR-4741	CLIP-seq
MIRT2136734	hsa-miR-4742-5p	CLIP-seq
MIRT1456152	hsa-miR-4747-5p	CLIP-seq
MIRT2136735	hsa-miR-4749-3p	CLIP-seq
MIRT1456153	hsa-miR-4768-3p	CLIP-seq
MIRT1456154	hsa-miR-4784	CLIP-seq
MIRT2136736	hsa-miR-4787-5p	CLIP-seq
MIRT2136737	hsa-miR-592	CLIP-seq
MIRT2136738	hsa-miR-597	CLIP-seq
MIRT2136739	hsa-miR-628-5p	CLIP-seq
MIRT2136740	hsa-miR-671-5p	CLIP-seq
MIRT2136741	hsa-miR-711	CLIP-seq
MIRT2136742	hsa-miR-877	CLIP-seq
MIRT2357522	hsa-miR-4520a-5p	CLIP-seq
MIRT2357523	hsa-miR-4520b-5p	CLIP-seq
MIRT2357524	hsa-miR-4532	CLIP-seq
MIRT2136724	hsa-miR-4645-5p	CLIP-seq
MIRT2136726	hsa-miR-4668-3p	CLIP-seq
MIRT2136727	hsa-miR-4673	CLIP-seq
MIRT2136730	hsa-miR-4698	CLIP-seq
MIRT2136734	hsa-miR-4742-5p	CLIP-seq
MIRT2136737	hsa-miR-592	CLIP-seq
MIRT2136738	hsa-miR-597	CLIP-seq
MIRT2136741	hsa-miR-711	CLIP-seq
MIRT2462372	hsa-miR-1178	CLIP-seq
MIRT2462373	hsa-miR-4700-3p	CLIP-seq
MIRT2136737	hsa-miR-592	CLIP-seq
MIRT2136738	hsa-miR-597	CLIP-seq
MIRT2462372	hsa-miR-1178	CLIP-seq
MIRT2462373	hsa-miR-4700-3p	CLIP-seq
MIRT2136737	hsa-miR-592	CLIP-seq
MIRT2136738	hsa-miR-597	CLIP-seq
MIRT2651246	hsa-miR-146a	CLIP-seq
MIRT2651247	hsa-miR-146b-5p	CLIP-seq
MIRT2651248	hsa-miR-1539	CLIP-seq
MIRT2357522	hsa-miR-4520a-5p	CLIP-seq
MIRT2357523	hsa-miR-4520b-5p	CLIP-seq
MIRT1456153	hsa-miR-4768-3p	CLIP-seq
MIRT1456162	hsa-miR-580	CLIP-seq
MIRT2651249	hsa-miR-589	CLIP-seq
MIRT2651250	hsa-miR-665	CLIP-seq

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002376	Process	Immune system process	IEA
GO:0003713	Function	Transcription coactivator activity	IDA	23077300
GO:0005515	Function	Protein binding	IPI	19549727, 32296183, 32814053
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IMP	33508234
GO:0005737	Component	Cytoplasm	IDA	23152791
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0007249	Process	Canonical NF-kappaB signal transduction	IDA	34871740
GO:0007249	Process	Canonical NF-kappaB signal transduction	IDA	27995356
GO:0008270	Function	Zinc ion binding	IEA
GO:0008270	Function	Zinc ion binding	NAS	11118312
GO:0010508	Process	Positive regulation of autophagy	IMP	26347139
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016604	Component	Nuclear body	IEA
GO:0016605	Component	PML body	IDA	11331580
GO:0016740	Function	Transferase activity	IEA
GO:0019827	Process	Stem cell population maintenance	IEA
GO:0032897	Process	Negative regulation of viral transcription	IEA
GO:0042802	Function	Identical protein binding	IPI	22493164, 22829933
GO:0042803	Function	Protein homodimerization activity	IPI	11331580
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IDA	23077300
GO:0044790	Process	Suppression of viral release by host	IDA	18248090
GO:0044790	Process	Suppression of viral release by host	IEA
GO:0045087	Process	Innate immune response	IDA	18248090
GO:0045087	Process	Innate immune response	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0046597	Process	Host-mediated suppression of symbiont invasion	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	27995356
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0070534	Process	Protein K63-linked ubiquitination	IDA	27995356
GO:1900182	Process	Positive regulation of protein localization to nucleus	IEA

MIM	HGNC	e!Ensembl
606125	15579	ENSG00000171206

Q9BZR9

Protein name

E3 ubiquitin-protein ligase TRIM8 (EC 2.3.2.27) (Glioblastoma-expressed RING finger protein) (RING finger protein 27) (RING-type E3 ubiquitin transferase TRIM8) (Tripartite motif-containing protein 8)

Protein function

E3 ubiquitin-protein ligase that participates in multiple biological processes including cell survival, differentiation, apoptosis, and in particular, the innate immune response (PubMed:27981609, PubMed:28747347). Participates in the activation

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15227	zf-C3HC4_4	15 → 55		Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Expressed in glomerular podocytes of kidneys. {ECO:0000269|PubMed:33508234, ECO:0000305}.

Sequence

MAENWKNCFEEELICPICLHVFVEPVQLPCKHNFCRGCIGEAWAKDSGLVRCPECNQAYN
QKPGLEKNLKLTNIVEKFNALHVEKPPAALHCVFCRRGPPLPAQKVCLRCEAPCCQSHVQ
THLQQPSTARGHLLVEADDVRAWSCPQHNAYRLYHCEAEQVAVCQYCCYYSGAHQGHSVC
DVEIRRNEIRKMLMKQQDRLEEREQDIEDQLYKLESDKRLVEEKVNQLKEEVRLQYEKLH
QLLDEDLRQTVEVLDKAQAKFCSENAAQALHLGERMQEAKKLLGSLQLLFDKTEDVSFMK
NTKSVKILMDRTQTCTSSSLSPTKIGHLNSKLFLNEVAKKEKQLRKMLEGPFSTPVPFLQ
SVPLYPCGVSSSGAEKRKHSTAFPEASFLETSSGPVGGQYGAAGTASGEGQSGQPLGPCS
STQHLVALPGGAQPVHSSPVFPPSQYPNGSAAQQPMLPQYGGRKILVCSVDNCYCSSVAN
HGGHQPYPRSGHFPWTVPSQEYSHPLPPTPSVPQSLPSLAVRDWLDASQQPGHQDFYRVY
GQPSTKHYVTS

Sequence length

551

Interactions

View interactions

	Reactome
			Interferon gamma signaling

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 (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Focal segmental glomerulosclerosis	Likely pathogenic; Pathogenic	rs2135985150, rs2135984840, rs2135984949, rs2135985076, rs2135984958, rs1387656757, rs866294686, rs2064030858	RCV001849526 RCV001849527 RCV001849528 RCV001849529 RCV001849831 RCV001849832 RCV001849431 RCV001849497 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Focal segmental glomerulosclerosis and neurodevelopmental syndrome	Pathogenic; Likely pathogenic	rs2135985089, rs1386357224, rs2135984894, rs2135985150, rs2135984840, rs2135984949, rs2135985076, rs2135984958, rs772349788, rs2064030791, rs2492914801, rs2064032086, rs2492916342, rs866294686	RCV001549296 RCV001549297 RCV001549301 RCV001549303 RCV001549305 View all (10 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs2135985150, rs2135984840, rs2135984949, rs2135985076, rs2135984958, rs1387656757, rs866294686, rs2064030858	RCV001849526 RCV001849527 RCV001849528 RCV001849529 RCV001849831 RCV001849832 RCV001849431 RCV001849497 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs2135985150, rs2135984840, rs2135984949, rs2135985076, rs2135984958, rs1387656757, rs866294686, rs2064030858	RCV001849526 RCV001849527 RCV001849528 RCV001849529 RCV001849831 RCV001849832 RCV001849431 RCV001849497 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TRIM8-related epileptic encephalopathy	Likely pathogenic; Pathogenic	rs866294686	RCV000708575	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (15)

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.
ANOREXIA NERVOSA	—	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
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL GLOMERULOSCLEROSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ 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
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRIM8-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (84)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	28280352		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	27995356		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	35470728	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bicuspid Aortic Valve Disease	Bicuspid aortic valve	Pubtator	36071494	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	34930159	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	26077989	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	25277184	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33173411	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	36635225	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28327152		★★★★★ ★☆☆☆☆ Found in Text Mining only
Complex partial seizure with impairment of consciousness	Dyscognitive seizures	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28327152		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Early infantile epileptic encephalopathy	Epileptic encephalopathy	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Early infantile epileptic encephalopathy with suppression bursts	Epileptic Encephalopathy	ORPHANET_DG	30244534		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eosinophilic esophagitis	Eosinophilia	GENOMICS_ENGLAND_DG	23934111		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	27346735, 30244534		★★★★★ ★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic Ataxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ethylmalonic encephalopathy	Ethylmalonic Encephalopathy	GENOMICS_ENGLAND_DG	23934111		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eyelid Diseases	Eyelid disease	Pubtator	38088023	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal seizures, afebril	Focal Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized clonic seizures	Clonic Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	26077989, 28100038, 30528352		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	26077989, 28100038	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	26077989, 28100038, 30528352		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	26077989		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	26077989	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	23934111		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	34930159	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	34916780	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	23934111		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	BEFREE	27995356		★★★★★ ★☆☆☆☆ Found in Text Mining only
Left ventricular noncompaction	Left ventricular noncompaction	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	GWASDB_DG	23535732		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29182544		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malrotation of kidney	Malrotation Of Kidney	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Maternal hypertension	Maternal hypertension	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	33118318	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	27981609		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	36352383	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29182544		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	30244534		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	34930159	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	32757662	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	35102149	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	28280352		★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	GWASCAT_DG	23535732, 29892016		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Proteinuria	Proteinuria	Pubtator	34930159	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	27981609		★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ureterocele	Ureterocele	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

TRIM8 (tripartite motif containing 8)