Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	51633
Gene name	OTU deubiquitinase 6B
Gene symbol	OTUD6B
Synonyms (NCBI Gene)	CGI-77DUBA-5DUBA5IDDFSDA
Chromosome	8
Chromosome location	8q21.3
Summary	This gene encodes a member of the ovarian tumor domain (OTU)-containing subfamily of deubiquitinating enzymes. Deubiquitinating enzymes are primarily involved in removing ubiquitin from proteins targeted for degradation. This protein may function as a neg

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs150848976	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs368313959	C>T	Pathogenic	Stop gained, coding sequence variant
rs747009288	G>A,C	Pathogenic	Splice donor variant
rs759317757	TTAAC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064797103	A>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant

174

Show/Hide all (174)

miRTarBase ID	miRNA	Experiments
MIRT1208011	hsa-miR-1179	CLIP-seq
MIRT1208012	hsa-miR-1283	CLIP-seq
MIRT1208013	hsa-miR-196a	CLIP-seq
MIRT1208014	hsa-miR-196b	CLIP-seq
MIRT1208015	hsa-miR-199a-3p	CLIP-seq
MIRT1208016	hsa-miR-199b-3p	CLIP-seq
MIRT1208017	hsa-miR-3065-3p	CLIP-seq
MIRT1208018	hsa-miR-3125	CLIP-seq
MIRT1208019	hsa-miR-3129-5p	CLIP-seq
MIRT1208020	hsa-miR-3529	CLIP-seq
MIRT1208021	hsa-miR-3614-5p	CLIP-seq
MIRT1208022	hsa-miR-379	CLIP-seq
MIRT1208023	hsa-miR-3916	CLIP-seq
MIRT1208024	hsa-miR-4277	CLIP-seq
MIRT1208025	hsa-miR-4291	CLIP-seq
MIRT1208026	hsa-miR-4451	CLIP-seq
MIRT1208027	hsa-miR-4499	CLIP-seq
MIRT1208028	hsa-miR-4513	CLIP-seq
MIRT1208029	hsa-miR-4645-3p	CLIP-seq
MIRT1208030	hsa-miR-4650-3p	CLIP-seq
MIRT1208031	hsa-miR-4703-3p	CLIP-seq
MIRT1208032	hsa-miR-4742-3p	CLIP-seq
MIRT1208033	hsa-miR-4773	CLIP-seq
MIRT1208034	hsa-miR-4799-5p	CLIP-seq
MIRT1208035	hsa-miR-495	CLIP-seq
MIRT1208036	hsa-miR-510	CLIP-seq
MIRT1208037	hsa-miR-512-5p	CLIP-seq
MIRT1208038	hsa-miR-548ag	CLIP-seq
MIRT1208039	hsa-miR-548ai	CLIP-seq
MIRT1208040	hsa-miR-548u	CLIP-seq
MIRT1208041	hsa-miR-561	CLIP-seq
MIRT1208042	hsa-miR-583	CLIP-seq
MIRT1208043	hsa-miR-936	CLIP-seq
MIRT2059766	hsa-miR-1207-5p	CLIP-seq
MIRT2059767	hsa-miR-1271	CLIP-seq
MIRT2059768	hsa-miR-1298	CLIP-seq
MIRT2059769	hsa-miR-135a	CLIP-seq
MIRT2059770	hsa-miR-135b	CLIP-seq
MIRT2059771	hsa-miR-182	CLIP-seq
MIRT2059772	hsa-miR-2054	CLIP-seq
MIRT2059773	hsa-miR-23a	CLIP-seq
MIRT2059774	hsa-miR-23b	CLIP-seq
MIRT2059775	hsa-miR-23c	CLIP-seq
MIRT2059776	hsa-miR-3163	CLIP-seq
MIRT2059777	hsa-miR-340	CLIP-seq
MIRT2059778	hsa-miR-3613-3p	CLIP-seq
MIRT2059779	hsa-miR-3613-5p	CLIP-seq
MIRT2059780	hsa-miR-4282	CLIP-seq
MIRT2059781	hsa-miR-4514	CLIP-seq
MIRT2059782	hsa-miR-4692	CLIP-seq
MIRT2059783	hsa-miR-4699-3p	CLIP-seq
MIRT1208031	hsa-miR-4703-3p	CLIP-seq
MIRT2059784	hsa-miR-4736	CLIP-seq
MIRT2059785	hsa-miR-4763-3p	CLIP-seq
MIRT2059786	hsa-miR-490-5p	CLIP-seq
MIRT1208035	hsa-miR-495	CLIP-seq
MIRT2059787	hsa-miR-516a-3p	CLIP-seq
MIRT2059788	hsa-miR-520d-5p	CLIP-seq
MIRT2059789	hsa-miR-524-5p	CLIP-seq
MIRT2059790	hsa-miR-548c-3p	CLIP-seq
MIRT2059791	hsa-miR-548p	CLIP-seq
MIRT1208040	hsa-miR-548u	CLIP-seq
MIRT2059792	hsa-miR-579	CLIP-seq
MIRT2059793	hsa-miR-96	CLIP-seq
MIRT2288115	hsa-miR-1251	CLIP-seq
MIRT2288116	hsa-miR-1252	CLIP-seq
MIRT2288117	hsa-miR-1323	CLIP-seq
MIRT2288118	hsa-miR-217	CLIP-seq
MIRT2288119	hsa-miR-219-1-3p	CLIP-seq
MIRT2288120	hsa-miR-3122	CLIP-seq
MIRT2288121	hsa-miR-3153	CLIP-seq
MIRT2288122	hsa-miR-3660	CLIP-seq
MIRT2288123	hsa-miR-3913-5p	CLIP-seq
MIRT2288124	hsa-miR-409-5p	CLIP-seq
MIRT2288125	hsa-miR-4261	CLIP-seq
MIRT2288126	hsa-miR-4418	CLIP-seq
MIRT2288127	hsa-miR-4420	CLIP-seq
MIRT2288128	hsa-miR-4470	CLIP-seq
MIRT2288129	hsa-miR-4526	CLIP-seq
MIRT2288130	hsa-miR-4668-5p	CLIP-seq
MIRT2288131	hsa-miR-4698	CLIP-seq
MIRT2288132	hsa-miR-499-3p	CLIP-seq
MIRT2288133	hsa-miR-499a-3p	CLIP-seq
MIRT2288134	hsa-miR-509-3-5p	CLIP-seq
MIRT2288135	hsa-miR-509-5p	CLIP-seq
MIRT2288136	hsa-miR-548o	CLIP-seq
MIRT2059791	hsa-miR-548p	CLIP-seq
MIRT2288137	hsa-miR-568	CLIP-seq
MIRT2288138	hsa-miR-571	CLIP-seq
MIRT2059792	hsa-miR-579	CLIP-seq
MIRT1208011	hsa-miR-1179	CLIP-seq
MIRT1208013	hsa-miR-196a	CLIP-seq
MIRT1208014	hsa-miR-196b	CLIP-seq
MIRT1208015	hsa-miR-199a-3p	CLIP-seq
MIRT1208016	hsa-miR-199b-3p	CLIP-seq
MIRT1208019	hsa-miR-3129-5p	CLIP-seq
MIRT2059776	hsa-miR-3163	CLIP-seq
MIRT2059777	hsa-miR-340	CLIP-seq
MIRT2059779	hsa-miR-3613-5p	CLIP-seq
MIRT2586292	hsa-miR-3925-3p	CLIP-seq
MIRT2586293	hsa-miR-4263	CLIP-seq
MIRT2586294	hsa-miR-4659a-5p	CLIP-seq
MIRT2586295	hsa-miR-4659b-5p	CLIP-seq
MIRT2059783	hsa-miR-4699-3p	CLIP-seq
MIRT1208031	hsa-miR-4703-3p	CLIP-seq
MIRT2586296	hsa-miR-4720-3p	CLIP-seq
MIRT2586297	hsa-miR-4764-3p	CLIP-seq
MIRT2586298	hsa-miR-4776-3p	CLIP-seq
MIRT1208034	hsa-miR-4799-5p	CLIP-seq
MIRT2586299	hsa-miR-4804-3p	CLIP-seq
MIRT2059786	hsa-miR-490-5p	CLIP-seq
MIRT2586300	hsa-miR-508-5p	CLIP-seq
MIRT2586301	hsa-miR-548a-3p	CLIP-seq
MIRT2586302	hsa-miR-548ac	CLIP-seq
MIRT2586303	hsa-miR-548ae	CLIP-seq
MIRT1208038	hsa-miR-548ag	CLIP-seq
MIRT1208039	hsa-miR-548ai	CLIP-seq
MIRT2586304	hsa-miR-548aj	CLIP-seq
MIRT2586305	hsa-miR-548am	CLIP-seq
MIRT2059790	hsa-miR-548c-3p	CLIP-seq
MIRT2586306	hsa-miR-548d-3p	CLIP-seq
MIRT2586307	hsa-miR-548e	CLIP-seq
MIRT2586308	hsa-miR-548f	CLIP-seq
MIRT2059791	hsa-miR-548p	CLIP-seq
MIRT2586309	hsa-miR-548x	CLIP-seq
MIRT2586310	hsa-miR-548z	CLIP-seq
MIRT2586311	hsa-miR-576-5p	CLIP-seq
MIRT1208043	hsa-miR-936	CLIP-seq
MIRT1208011	hsa-miR-1179	CLIP-seq
MIRT1208013	hsa-miR-196a	CLIP-seq
MIRT1208014	hsa-miR-196b	CLIP-seq
MIRT1208015	hsa-miR-199a-3p	CLIP-seq
MIRT1208016	hsa-miR-199b-3p	CLIP-seq
MIRT1208017	hsa-miR-3065-3p	CLIP-seq
MIRT1208019	hsa-miR-3129-5p	CLIP-seq
MIRT2059776	hsa-miR-3163	CLIP-seq
MIRT2059777	hsa-miR-340	CLIP-seq
MIRT1208020	hsa-miR-3529	CLIP-seq
MIRT1208021	hsa-miR-3614-5p	CLIP-seq
MIRT1208022	hsa-miR-379	CLIP-seq
MIRT2586292	hsa-miR-3925-3p	CLIP-seq
MIRT2586293	hsa-miR-4263	CLIP-seq
MIRT1208024	hsa-miR-4277	CLIP-seq
MIRT1208025	hsa-miR-4291	CLIP-seq
MIRT1208026	hsa-miR-4451	CLIP-seq
MIRT1208030	hsa-miR-4650-3p	CLIP-seq
MIRT2586294	hsa-miR-4659a-5p	CLIP-seq
MIRT2586295	hsa-miR-4659b-5p	CLIP-seq
MIRT2059783	hsa-miR-4699-3p	CLIP-seq
MIRT1208031	hsa-miR-4703-3p	CLIP-seq
MIRT2586296	hsa-miR-4720-3p	CLIP-seq
MIRT2586297	hsa-miR-4764-3p	CLIP-seq
MIRT1208033	hsa-miR-4773	CLIP-seq
MIRT2586298	hsa-miR-4776-3p	CLIP-seq
MIRT1208034	hsa-miR-4799-5p	CLIP-seq
MIRT2586299	hsa-miR-4804-3p	CLIP-seq
MIRT2586300	hsa-miR-508-5p	CLIP-seq
MIRT1208036	hsa-miR-510	CLIP-seq
MIRT1208037	hsa-miR-512-5p	CLIP-seq
MIRT2586301	hsa-miR-548a-3p	CLIP-seq
MIRT2586302	hsa-miR-548ac	CLIP-seq
MIRT2586303	hsa-miR-548ae	CLIP-seq
MIRT1208038	hsa-miR-548ag	CLIP-seq
MIRT1208039	hsa-miR-548ai	CLIP-seq
MIRT2586304	hsa-miR-548aj	CLIP-seq
MIRT2586305	hsa-miR-548am	CLIP-seq
MIRT2059790	hsa-miR-548c-3p	CLIP-seq
MIRT2586306	hsa-miR-548d-3p	CLIP-seq
MIRT2586307	hsa-miR-548e	CLIP-seq
MIRT2586308	hsa-miR-548f	CLIP-seq
MIRT2586309	hsa-miR-548x	CLIP-seq
MIRT2586310	hsa-miR-548z	CLIP-seq
MIRT2586311	hsa-miR-576-5p	CLIP-seq
MIRT1208043	hsa-miR-936	CLIP-seq

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004843	Function	Cysteine-type deubiquitinase activity	IBA
GO:0004843	Function	Cysteine-type deubiquitinase activity	IDA	21267069
GO:0004843	Function	Cysteine-type deubiquitinase activity	IEA
GO:0005515	Function	Protein binding	IPI	28514442, 33421002, 33961781
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0008283	Process	Cell population proliferation	IDA	27864334
GO:0016281	Component	Eukaryotic translation initiation factor 4F complex	IDA	27864334
GO:0016579	Process	Protein deubiquitination	IDA	21267069
GO:0016579	Process	Protein deubiquitination	IEA
GO:0016579	Process	Protein deubiquitination	IMP	27864334
GO:0016787	Function	Hydrolase activity	IEA
GO:0017148	Process	Negative regulation of translation	IMP	27864334
GO:0043248	Process	Proteasome assembly	IMP	28343629
GO:0045727	Process	Positive regulation of translation	IMP	27864334

MIM	HGNC	e!Ensembl
612021	24281	ENSG00000155100

Q8N6M0

Protein name

Deubiquitinase OTUD6B (EC 3.4.19.12) (DUBA-5) (OTU domain-containing protein 6B)

Protein function

[Isoform 1]: Deubiquitinating enzyme that may play a role in the ubiquitin-dependent regulation of protein synthesis, downstream of mTORC1 (PubMed:21267069, PubMed:27864334). May associate with the protein synthesis initiation complex and modify

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02338	OTU	153 → 278	OTU-like cysteine protease	Family

Sequence

MEAVLTEELDEEEQLLRRHRKEKKELQAKIQGMKNAVPKNDKKRRKQLTEDVAKLEKEME
QKHREELEQLKLTTKENKIDSVAVNISNLVLENQPPRISKAQKRREKKAALEKEREERIA
EAEIENLTGARHMESEKLAQILAARQLEIKQIPSDGHCMYKAIEDQLKEKDCALTVVALR
SQTAEYMQSHVEDFLPFLTNPNTGDMYTPEEFQKYCEDIVNTAAWGGQLELRALSHILQT
PIEIIQADSPPIIVGEEYSKKPLILVYMRHAYGLGEHYNSVTRLVNIVTENCS

Sequence length

293

Interactions

View interactions

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
Colorectal cancer	Pathogenic	rs368313959	RCV005900715	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dysmorphic features	Pathogenic; Likely pathogenic	rs368313959, rs759317757, rs1064797102, rs1064797103	RCV000491014 RCV000491466 RCV000491932 RCV000490986	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Pathogenic; Likely pathogenic	rs368313959, rs759317757, rs1064797102, rs1064797103	RCV000491014 RCV000491466 RCV000491932 RCV000490986	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	Pathogenic; Likely pathogenic	rs772032719, rs767217536, rs748735420, rs1472577530, rs2130446714, rs2488421311, rs2488421245, rs368313959, rs759317757, rs1064797102, rs1064797103, rs150848976, rs779499353	RCV001330700 RCV001782559 RCV001807975 RCV002266033 RCV002266034 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Pathogenic; Likely pathogenic	rs368313959, rs759317757, rs1064797102, rs1064797103	RCV000491014 RCV000491466 RCV000491932 RCV000490986	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (5)

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.
Acute myeloid leukemia	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET SEIZURES, DISTAL LIMB ANOMALIES, FACIAL DYSMORPHISM, GLOBAL DEVELOPMENTAL DELAY SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET SEIZURES-DISTAL LIMB ANOMALIES-FACIAL DYSMORPHISM-GLOBAL DEVELOPMENTAL DELAY SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTUD6B-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (60)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arachnodactyly	Arachnodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33225954, 35441740, 37110517	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	32952848	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	32256450	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35110537	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	32924626	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	28343629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	28343629		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dysmorphic features	Dysmorphic Features	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Edema	Edema	Pubtator	34680978	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	34680978	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	37038094	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	34680978	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	32924626	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES	Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	GENOMICS_ENGLAND_DG	28343629		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES	Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	ORPHANET_DG	28343629		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES	Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	UNIPROT_DG	28343629		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES	Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES	Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	BEFREE	28343629		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	32924626, 34680978, 35430327	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung Neoplasms	Lung neoplasms	Pubtator	36052059	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	32256450	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	31310629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	36059274	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	27864334		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	34440306	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	36052059	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	29179949	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	31156645	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	32924626	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	31156645		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	32256450	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	32952848	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams syndrome	Pubtator	34680978	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

OTUD6B (OTU deubiquitinase 6B)