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	84231
Gene name	TNF receptor associated factor 7
Gene symbol	TRAF7
Synonyms (NCBI Gene)	CAFDADDRFWD1RNF119
Chromosome	16
Chromosome location	16p13.3
Summary	Tumor necrosis factor (TNF; see MIM 191160) receptor-associated factors, such as TRAF7, are signal transducers for members of the TNF receptor superfamily (see MIM 191190). TRAFs are composed of an N-terminal cysteine/histidine-rich region containing zinc

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1331463984	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1567252467	A>G,T	Pathogenic	Missense variant, stop gained, non coding transcript variant, coding sequence variant
rs1567252659	C>G,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1567254067	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant

198

Show/Hide all (198)

miRTarBase ID	miRNA	Experiments	Reference
MIRT052480	hsa-let-7a-5p	CLASH	23622248
MIRT042237	hsa-miR-484	CLASH	23622248
MIRT714201	hsa-miR-3127-3p	HITS-CLIP	19536157
MIRT714200	hsa-miR-6756-3p	HITS-CLIP	19536157
MIRT714199	hsa-miR-370-3p	HITS-CLIP	19536157
MIRT714198	hsa-miR-6893-3p	HITS-CLIP	19536157
MIRT714197	hsa-miR-3667-3p	HITS-CLIP	19536157
MIRT714196	hsa-miR-6511a-3p	HITS-CLIP	19536157
MIRT714195	hsa-miR-6511b-3p	HITS-CLIP	19536157
MIRT714194	hsa-miR-6784-3p	HITS-CLIP	19536157
MIRT714193	hsa-miR-6862-3p	HITS-CLIP	19536157
MIRT714192	hsa-miR-626	HITS-CLIP	19536157
MIRT714191	hsa-miR-6876-3p	HITS-CLIP	19536157
MIRT714190	hsa-miR-6802-3p	HITS-CLIP	19536157
MIRT714189	hsa-miR-1229-3p	HITS-CLIP	19536157
MIRT714188	hsa-miR-3074-5p	HITS-CLIP	19536157
MIRT714201	hsa-miR-3127-3p	HITS-CLIP	19536157
MIRT714200	hsa-miR-6756-3p	HITS-CLIP	19536157
MIRT714199	hsa-miR-370-3p	HITS-CLIP	19536157
MIRT714198	hsa-miR-6893-3p	HITS-CLIP	19536157
MIRT714197	hsa-miR-3667-3p	HITS-CLIP	19536157
MIRT714196	hsa-miR-6511a-3p	HITS-CLIP	19536157
MIRT714195	hsa-miR-6511b-3p	HITS-CLIP	19536157
MIRT714194	hsa-miR-6784-3p	HITS-CLIP	19536157
MIRT714193	hsa-miR-6862-3p	HITS-CLIP	19536157
MIRT714192	hsa-miR-626	HITS-CLIP	19536157
MIRT714191	hsa-miR-6876-3p	HITS-CLIP	19536157
MIRT714190	hsa-miR-6802-3p	HITS-CLIP	19536157
MIRT714189	hsa-miR-1229-3p	HITS-CLIP	19536157
MIRT714188	hsa-miR-3074-5p	HITS-CLIP	19536157
MIRT1451227	hsa-miR-1197	CLIP-seq
MIRT1451228	hsa-miR-1238	CLIP-seq
MIRT1451229	hsa-miR-1249	CLIP-seq
MIRT1451230	hsa-miR-1254	CLIP-seq
MIRT1451231	hsa-miR-1260	CLIP-seq
MIRT1451232	hsa-miR-1260b	CLIP-seq
MIRT1451233	hsa-miR-1278	CLIP-seq
MIRT1451234	hsa-miR-140-3p	CLIP-seq
MIRT1451235	hsa-miR-1538	CLIP-seq
MIRT1451236	hsa-miR-188-3p	CLIP-seq
MIRT1451237	hsa-miR-1913	CLIP-seq
MIRT1451238	hsa-miR-1973	CLIP-seq
MIRT1451239	hsa-miR-1976	CLIP-seq
MIRT1451240	hsa-miR-204	CLIP-seq
MIRT1451241	hsa-miR-211	CLIP-seq
MIRT1451242	hsa-miR-3116	CLIP-seq
MIRT1451243	hsa-miR-3127-5p	CLIP-seq
MIRT1451244	hsa-miR-3156-3p	CLIP-seq
MIRT1451245	hsa-miR-3180	CLIP-seq
MIRT1451246	hsa-miR-3180-3p	CLIP-seq
MIRT1451247	hsa-miR-3183	CLIP-seq
MIRT1451248	hsa-miR-3194-3p	CLIP-seq
MIRT1451249	hsa-miR-3196	CLIP-seq
MIRT1451250	hsa-miR-320a	CLIP-seq
MIRT1451251	hsa-miR-320b	CLIP-seq
MIRT1451252	hsa-miR-320c	CLIP-seq
MIRT1451253	hsa-miR-320d	CLIP-seq
MIRT1451254	hsa-miR-324-3p	CLIP-seq
MIRT1451255	hsa-miR-3605-3p	CLIP-seq
MIRT1451256	hsa-miR-3656	CLIP-seq
MIRT1451257	hsa-miR-3663-5p	CLIP-seq
MIRT1451258	hsa-miR-3676	CLIP-seq
MIRT1451259	hsa-miR-3687	CLIP-seq
MIRT1451260	hsa-miR-371-3p	CLIP-seq
MIRT1451261	hsa-miR-3907	CLIP-seq
MIRT1451262	hsa-miR-3921	CLIP-seq
MIRT1451263	hsa-miR-4268	CLIP-seq
MIRT1451264	hsa-miR-4279	CLIP-seq
MIRT1451265	hsa-miR-4283	CLIP-seq
MIRT1451266	hsa-miR-4287	CLIP-seq
MIRT1451267	hsa-miR-4290	CLIP-seq
MIRT1451268	hsa-miR-4313	CLIP-seq
MIRT1451269	hsa-miR-4429	CLIP-seq
MIRT1451270	hsa-miR-4442	CLIP-seq
MIRT1451271	hsa-miR-4450	CLIP-seq
MIRT1451272	hsa-miR-4455	CLIP-seq
MIRT1451273	hsa-miR-4488	CLIP-seq
MIRT1451274	hsa-miR-4532	CLIP-seq
MIRT1451275	hsa-miR-4649-3p	CLIP-seq
MIRT1451276	hsa-miR-4653-3p	CLIP-seq
MIRT1451277	hsa-miR-4653-5p	CLIP-seq
MIRT1451278	hsa-miR-4685-3p	CLIP-seq
MIRT1451279	hsa-miR-4697-5p	CLIP-seq
MIRT1451280	hsa-miR-4722-3p	CLIP-seq
MIRT1451281	hsa-miR-4723-3p	CLIP-seq
MIRT1451282	hsa-miR-4731-5p	CLIP-seq
MIRT1451283	hsa-miR-4745-3p	CLIP-seq
MIRT1451284	hsa-miR-4766-5p	CLIP-seq
MIRT1451285	hsa-miR-488	CLIP-seq
MIRT1451286	hsa-miR-491-5p	CLIP-seq
MIRT1451287	hsa-miR-550a	CLIP-seq
MIRT1451288	hsa-miR-628-5p	CLIP-seq
MIRT1451289	hsa-miR-640	CLIP-seq
MIRT1451290	hsa-miR-661	CLIP-seq
MIRT1451291	hsa-miR-662	CLIP-seq
MIRT1451292	hsa-miR-767-3p	CLIP-seq
MIRT1451293	hsa-miR-877	CLIP-seq
MIRT1451294	hsa-miR-942	CLIP-seq
MIRT1451264	hsa-miR-4279	CLIP-seq
MIRT2134868	hsa-miR-126	CLIP-seq
MIRT1451233	hsa-miR-1278	CLIP-seq
MIRT2134869	hsa-miR-1285	CLIP-seq
MIRT2134870	hsa-miR-1305	CLIP-seq
MIRT2134871	hsa-miR-1343	CLIP-seq
MIRT2134872	hsa-miR-147	CLIP-seq
MIRT2134873	hsa-miR-1912	CLIP-seq
MIRT2134874	hsa-miR-3147	CLIP-seq
MIRT2134875	hsa-miR-3184	CLIP-seq
MIRT2134876	hsa-miR-3190	CLIP-seq
MIRT2134877	hsa-miR-3612	CLIP-seq
MIRT2134878	hsa-miR-361-3p	CLIP-seq
MIRT1451257	hsa-miR-3663-5p	CLIP-seq
MIRT1451260	hsa-miR-371-3p	CLIP-seq
MIRT2134879	hsa-miR-3911	CLIP-seq
MIRT2134880	hsa-miR-4270	CLIP-seq
MIRT1451264	hsa-miR-4279	CLIP-seq
MIRT2134881	hsa-miR-4425	CLIP-seq
MIRT2134882	hsa-miR-4441	CLIP-seq
MIRT2134883	hsa-miR-4443	CLIP-seq
MIRT1451271	hsa-miR-4450	CLIP-seq
MIRT2134884	hsa-miR-4459	CLIP-seq
MIRT2134885	hsa-miR-4481	CLIP-seq
MIRT1451273	hsa-miR-4488	CLIP-seq
MIRT2134886	hsa-miR-4496	CLIP-seq
MIRT2134887	hsa-miR-4514	CLIP-seq
MIRT2134888	hsa-miR-4534	CLIP-seq
MIRT2134889	hsa-miR-4650-5p	CLIP-seq
MIRT2134890	hsa-miR-4690-5p	CLIP-seq
MIRT2134891	hsa-miR-4691-3p	CLIP-seq
MIRT2134892	hsa-miR-4692	CLIP-seq
MIRT1451279	hsa-miR-4697-5p	CLIP-seq
MIRT2134893	hsa-miR-4728-5p	CLIP-seq
MIRT2134894	hsa-miR-4729	CLIP-seq
MIRT2134895	hsa-miR-4740-3p	CLIP-seq
MIRT2134896	hsa-miR-4745-5p	CLIP-seq
MIRT2134897	hsa-miR-4762-5p	CLIP-seq
MIRT2134898	hsa-miR-4786-5p	CLIP-seq
MIRT2134899	hsa-miR-4802-5p	CLIP-seq
MIRT2134900	hsa-miR-486-3p	CLIP-seq
MIRT1451286	hsa-miR-491-5p	CLIP-seq
MIRT2134901	hsa-miR-552	CLIP-seq
MIRT2134902	hsa-miR-615-5p	CLIP-seq
MIRT2134903	hsa-miR-619	CLIP-seq
MIRT2134904	hsa-miR-621	CLIP-seq
MIRT2134905	hsa-miR-622	CLIP-seq
MIRT2134906	hsa-miR-644	CLIP-seq
MIRT2134907	hsa-miR-650	CLIP-seq
MIRT2134908	hsa-miR-665	CLIP-seq
MIRT2134909	hsa-miR-759	CLIP-seq
MIRT1451292	hsa-miR-767-3p	CLIP-seq
MIRT1451230	hsa-miR-1254	CLIP-seq
MIRT2356106	hsa-miR-1262	CLIP-seq
MIRT1451233	hsa-miR-1278	CLIP-seq
MIRT2134869	hsa-miR-1285	CLIP-seq
MIRT2356107	hsa-miR-149	CLIP-seq
MIRT2356108	hsa-miR-214	CLIP-seq
MIRT2356109	hsa-miR-24	CLIP-seq
MIRT1451242	hsa-miR-3116	CLIP-seq
MIRT2134877	hsa-miR-3612	CLIP-seq
MIRT1451257	hsa-miR-3663-5p	CLIP-seq
MIRT2356110	hsa-miR-3922-5p	CLIP-seq
MIRT2356111	hsa-miR-4257	CLIP-seq
MIRT2356112	hsa-miR-4261	CLIP-seq
MIRT1451264	hsa-miR-4279	CLIP-seq
MIRT2356113	hsa-miR-4284	CLIP-seq
MIRT2134883	hsa-miR-4443	CLIP-seq
MIRT2356114	hsa-miR-4453	CLIP-seq
MIRT1451272	hsa-miR-4455	CLIP-seq
MIRT2134886	hsa-miR-4496	CLIP-seq
MIRT2356115	hsa-miR-4538	CLIP-seq
MIRT2356116	hsa-miR-4701-3p	CLIP-seq
MIRT2356117	hsa-miR-4717-5p	CLIP-seq
MIRT2356118	hsa-miR-4753-5p	CLIP-seq
MIRT1451287	hsa-miR-550a	CLIP-seq
MIRT2356119	hsa-miR-609	CLIP-seq
MIRT2356120	hsa-miR-646	CLIP-seq
MIRT2134907	hsa-miR-650	CLIP-seq
MIRT1451290	hsa-miR-661	CLIP-seq
MIRT2356121	hsa-miR-766	CLIP-seq
MIRT1451264	hsa-miR-4279	CLIP-seq
MIRT1451228	hsa-miR-1238	CLIP-seq
MIRT1451239	hsa-miR-1976	CLIP-seq
MIRT1451240	hsa-miR-204	CLIP-seq
MIRT1451241	hsa-miR-211	CLIP-seq
MIRT1451247	hsa-miR-3183	CLIP-seq
MIRT1451264	hsa-miR-4279	CLIP-seq
MIRT1451266	hsa-miR-4287	CLIP-seq
MIRT1451267	hsa-miR-4290	CLIP-seq
MIRT1451278	hsa-miR-4685-3p	CLIP-seq
MIRT1451281	hsa-miR-4723-3p	CLIP-seq
MIRT2134869	hsa-miR-1285	CLIP-seq
MIRT2134873	hsa-miR-1912	CLIP-seq
MIRT2134875	hsa-miR-3184	CLIP-seq
MIRT1451260	hsa-miR-371-3p	CLIP-seq
MIRT2134869	hsa-miR-1285	CLIP-seq
MIRT2134873	hsa-miR-1912	CLIP-seq
MIRT2134875	hsa-miR-3184	CLIP-seq
MIRT1451260	hsa-miR-371-3p	CLIP-seq

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000151	Component	Ubiquitin ligase complex	IBA
GO:0000151	Component	Ubiquitin ligase complex	IDA	14743216
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	14743216
GO:0005515	Function	Protein binding	IPI	14743216, 15001576, 21903422, 32707033, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	1406630
GO:0006915	Process	Apoptotic process	IBA
GO:0006915	Process	Apoptotic process	IDA	15001576
GO:0006915	Process	Apoptotic process	IEA
GO:0007249	Process	Canonical NF-kappaB signal transduction	IDA	1493333, 9244310, 9346484
GO:0008270	Function	Zinc ion binding	IEA
GO:0008270	Function	Zinc ion binding	NAS	14743216
GO:0016567	Process	Protein ubiquitination	IDA	14743216
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0035519	Process	Protein K29-linked ubiquitination	IDA	21518757
GO:0043410	Process	Positive regulation of MAPK cascade	IBA
GO:0043410	Process	Positive regulation of MAPK cascade	IDA	15001576
GO:0043410	Process	Positive regulation of MAPK cascade	IDA	14743216
GO:0043525	Process	Positive regulation of neuron apoptotic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051247	Process	Positive regulation of protein metabolic process	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	21518757
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0070372	Process	Regulation of ERK1 and ERK2 cascade	IBA
GO:0070372	Process	Regulation of ERK1 and ERK2 cascade	IMP	29961569
GO:2000060	Process	Positive regulation of ubiquitin-dependent protein catabolic process	IDA	21518757
GO:2000060	Process	Positive regulation of ubiquitin-dependent protein catabolic process	TAS	27777308
GO:2001235	Process	Positive regulation of apoptotic signaling pathway	IMP	15001576

MIM	HGNC	e!Ensembl
606692	20456	ENSG00000131653

Q6Q0C0

Protein name

E3 ubiquitin-protein ligase TRAF7 (EC 2.3.2.-) (EC 2.3.2.27) (RING finger and WD repeat-containing protein 1) (RING finger protein 119) (RING-type E3 ubiquitin transferase TRAF7) (TNF receptor-associated factor 7)

Protein function

E3 ubiquitin and SUMO-protein ligase that plays a role in different biological processes such as innate immunity, inflammation or apoptosis (PubMed:15001576, PubMed:37086853). Potentiates MAP3K3-mediated activation of JUN/AP1 and DDIT3 transcrip

PDB

8IMS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13445	zf-RING_UBOX	131 → 167	RING-type zinc-finger	Domain
PF00400	WD40	386 → 424	WD domain, G-beta repeat	Repeat
PF00400	WD40	429 → 465	WD domain, G-beta repeat	Repeat
PF00400	WD40	589 → 629	WD domain, G-beta repeat	Repeat
PF00400	WD40	633 → 669	WD domain, G-beta repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed with high levels in skeletal muscle, heart, colon, spleen, kidney, liver and placenta. {ECO:0000269|PubMed:15001576}.

Sequence

MSSGKSARYNRFSGGPSNLPTPDVTTGTRMETTFGPAFSAVTTITKADGTSTYKQHCRTP
SSSSTLAYSPRDEEDSMPPISTPRRSDSAISVRSLHSESSMSLRSTFSLPEEEEEPEPLV
FAEQPSVKLCCQLCCSVFKDPVITTCGHTFCRRCALKSEKCPVDNVKLTVVVNNIAVAEQ
IGELFIHCRHGCRVAGSGKPPIFEVDPRGCPFTIKLSARKDHEGSCDYRPVRCPNNPSCP
PLLRMNLEAHLKECEHIKCPHSKYGCTFIGNQDTYETHLETCRFEGLKEFLQQTDDRFHE
MHVALAQKDQEIAFLRSMLGKLSEKIDQLEKSLELKFDVLDENQSKLSEDLMEFRRDASM
LNDELSHINARLNMGILGSYDPQQIFKCKGTFVGHQGPVWCLCVYSMGDLLFSGSSDKTI
KVWDTCTTYKCQKTLEGHDGIVLALCIQGCKLYSGSADCTIIVWDIQNLQKVNTIRAHDN
PVCTLVSSHNVLFSGSLKAIKVWDIVGTELKLKKELTGLNHWVRALVAAQSYLYSGSYQT
IKIWDIRTLDCIHVLQTSGGSVYSIAVTNHHIVCGTYENLIHVWDIESKEQVRTLTGHVG
TVYALAVISTPDQTKVFSASYDRSLRVWSMDNMICTQTLLRHQGSVTALAVSRGRLFSGA
VDSTVKVWTC

Sequence length

670

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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cardiac, facial, and digital anomalies with developmental delay	Pathogenic; Likely pathogenic	rs2141297268, rs2141291233, rs2141298490, rs2545012659, rs1331463984, rs1567254067, rs1567252467, rs1567252659, rs2093132159, rs2093135960	RCV003336419 RCV004996009 RCV002272641 RCV003444192 RCV000714967 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome	Likely pathogenic; Pathogenic	rs1331463984	RCV002274096	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TRAF7-related disorder	Likely pathogenic; Pathogenic	rs2093132159	RCV001249423	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TRAF7-related syndrome	Likely pathogenic; Pathogenic	rs1331463984	RCV002466575	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (16)

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.
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Laterality defect and complex congenital heart disease	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENINGIOMA	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA, MALIGNANT	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (54)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Aortic coarctation	Aortic Coarctation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Basilar invagination	Basilar invagination	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23128672		★★★★★ ★☆☆☆☆ Found in Text Mining only
CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY	Cardiac, Facial, And Digital Anomalies With Developmental Delay	GENOMICS_ENGLAND_DG	25961944, 29961569		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY	Cardiac, Facial, And Digital Anomalies With Developmental Delay	UNIPROT_DG	29961569		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY	Cardiac, Facial, And Digital Anomalies With Developmental Delay	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	29961569	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	GENOMICS_ENGLAND_DG	25961944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	29961569, 32376980, 34088006	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Double Outlet Right Ventricle	Double Outlet Right Ventricle	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ductus Arteriosus Patent	Patent ductus arteriosus	Pubtator	32376980	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial cylindromatosis	Familial cylindromatosis	Pubtator	16230348	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	25961944		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Global developmental delay	Developmental Delay	BEFREE	29961569		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Heart Defects Congenital	Congenital heart defect	Pubtator	29961569	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic Left Heart Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	29940130		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31730901		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphangioma, Cystic	Cystic hygroma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	CTD_human_DG	26928227		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	30171198		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23128672		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	23128672		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningioma	Meningioma	BEFREE	23348505, 23404370, 28019650, 28536991, 28552950, 28901666, 29206892, 29852774, 31177425		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningioma	Meningioma	Pubtator	23348505, 25993161, 27102344, 27548314, 28019650, 28552950, 29206892, 32376980, 33068421	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningioma	Meningioma	CGI_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesothelioma	Mesothelioma	BEFREE	31371807		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	29961569	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16230348, 23404370, 27808423, 28019650, 29206892, 30303818, 31177425		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	Pubtator	23348505	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Partial atrioventricular canal	Partial atrioventricular canal defect	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pelvic kidney	Pelvic kidney	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Perineurioma	Perineurioma	BEFREE	28019650, 30303818		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pica Disease	Pica	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Secretory meningioma	Secretory Meningioma	BEFREE	23404370, 31177425		★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichotillomania	Trichotillomania	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

TRAF7 (TNF receptor associated factor 7)