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	23221
Gene name	Rho related BTB domain containing 2
Gene symbol	RHOBTB2
Synonyms (NCBI Gene)	DBC2DEE64EIEE64p83
Chromosome	8
Chromosome location	8p21.3
Summary	The protein encoded by this gene is a small Rho GTPase and a candidate tumor suppressor. The encoded protein interacts with the cullin-3 protein, a ubiquitin E3 ligase necessary for mitotic cell division. This protein inhibits the growth and spread of som

Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1554504656	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1554504663	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs1554504678	A>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1554504681	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554504684	G>A	Pathogenic	Coding sequence variant, missense variant
rs1563292586	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant

128

Show/Hide all (128)

miRTarBase ID	miRNA	Experiments	Reference
MIRT044286	hsa-miR-106b-5p	CLASH	23622248
MIRT039445	hsa-miR-421	CLASH	23622248
MIRT1305437	hsa-miR-1285	CLIP-seq
MIRT1305438	hsa-miR-1293	CLIP-seq
MIRT1305439	hsa-miR-1470	CLIP-seq
MIRT1305440	hsa-miR-1912	CLIP-seq
MIRT1305441	hsa-miR-2861	CLIP-seq
MIRT1305442	hsa-miR-3163	CLIP-seq
MIRT1305443	hsa-miR-3187-5p	CLIP-seq
MIRT1305444	hsa-miR-3189-5p	CLIP-seq
MIRT1305445	hsa-miR-3192	CLIP-seq
MIRT1305446	hsa-miR-3200-5p	CLIP-seq
MIRT1305447	hsa-miR-3614-5p	CLIP-seq
MIRT1305448	hsa-miR-3662	CLIP-seq
MIRT1305449	hsa-miR-3667-3p	CLIP-seq
MIRT1305450	hsa-miR-378g	CLIP-seq
MIRT1305451	hsa-miR-4268	CLIP-seq
MIRT1305452	hsa-miR-4300	CLIP-seq
MIRT1305453	hsa-miR-4314	CLIP-seq
MIRT1305454	hsa-miR-432	CLIP-seq
MIRT1305455	hsa-miR-4469	CLIP-seq
MIRT1305456	hsa-miR-4483	CLIP-seq
MIRT1305457	hsa-miR-4486	CLIP-seq
MIRT1305458	hsa-miR-4488	CLIP-seq
MIRT1305459	hsa-miR-4492	CLIP-seq
MIRT1305460	hsa-miR-4498	CLIP-seq
MIRT1305461	hsa-miR-4505	CLIP-seq
MIRT1305462	hsa-miR-4633-3p	CLIP-seq
MIRT1305463	hsa-miR-4667-3p	CLIP-seq
MIRT1305464	hsa-miR-4682	CLIP-seq
MIRT1305465	hsa-miR-4685-5p	CLIP-seq
MIRT1305466	hsa-miR-4691-5p	CLIP-seq
MIRT1305467	hsa-miR-4697-5p	CLIP-seq
MIRT1305468	hsa-miR-4755-3p	CLIP-seq
MIRT1305469	hsa-miR-4756-3p	CLIP-seq
MIRT1305470	hsa-miR-4758-3p	CLIP-seq
MIRT1305471	hsa-miR-4785	CLIP-seq
MIRT1305472	hsa-miR-574-5p	CLIP-seq
MIRT1305473	hsa-miR-577	CLIP-seq
MIRT1305474	hsa-miR-612	CLIP-seq
MIRT1305475	hsa-miR-762	CLIP-seq
MIRT1305476	hsa-miR-890	CLIP-seq
MIRT1305477	hsa-miR-920	CLIP-seq
MIRT1305478	hsa-miR-1193	CLIP-seq
MIRT1305479	hsa-miR-1207-3p	CLIP-seq
MIRT1305480	hsa-miR-1207-5p	CLIP-seq
MIRT1305481	hsa-miR-15a	CLIP-seq
MIRT1305482	hsa-miR-15b	CLIP-seq
MIRT1305483	hsa-miR-16	CLIP-seq
MIRT1305484	hsa-miR-18a	CLIP-seq
MIRT1305485	hsa-miR-18b	CLIP-seq
MIRT1305486	hsa-miR-195	CLIP-seq
MIRT1305487	hsa-miR-214	CLIP-seq
MIRT1305488	hsa-miR-2467-3p	CLIP-seq
MIRT1305489	hsa-miR-3144-5p	CLIP-seq
MIRT1305490	hsa-miR-3165	CLIP-seq
MIRT1305491	hsa-miR-3191	CLIP-seq
MIRT1305492	hsa-miR-326	CLIP-seq
MIRT1305493	hsa-miR-330-5p	CLIP-seq
MIRT1305494	hsa-miR-342-5p	CLIP-seq
MIRT1305495	hsa-miR-3619-5p	CLIP-seq
MIRT1305496	hsa-miR-3691-5p	CLIP-seq
MIRT1305497	hsa-miR-3925-3p	CLIP-seq
MIRT1305498	hsa-miR-424	CLIP-seq
MIRT1305499	hsa-miR-4493	CLIP-seq
MIRT1305500	hsa-miR-4651	CLIP-seq
MIRT1305501	hsa-miR-4652-5p	CLIP-seq
MIRT1305502	hsa-miR-4664-5p	CLIP-seq
MIRT1305503	hsa-miR-4667-5p	CLIP-seq
MIRT1305504	hsa-miR-4700-5p	CLIP-seq
MIRT1305505	hsa-miR-4735-3p	CLIP-seq
MIRT1305506	hsa-miR-4736	CLIP-seq
MIRT1305507	hsa-miR-4763-3p	CLIP-seq
MIRT1305508	hsa-miR-497	CLIP-seq
MIRT1305509	hsa-miR-608	CLIP-seq
MIRT1305510	hsa-miR-637	CLIP-seq
MIRT1305511	hsa-miR-761	CLIP-seq
MIRT1305512	hsa-miR-766	CLIP-seq
MIRT2090372	hsa-miR-103a	CLIP-seq
MIRT2090373	hsa-miR-107	CLIP-seq
MIRT2090374	hsa-miR-1256	CLIP-seq
MIRT2090375	hsa-miR-125a-5p	CLIP-seq
MIRT2090376	hsa-miR-125b	CLIP-seq
MIRT2090377	hsa-miR-136	CLIP-seq
MIRT1305481	hsa-miR-15a	CLIP-seq
MIRT1305482	hsa-miR-15b	CLIP-seq
MIRT1305483	hsa-miR-16	CLIP-seq
MIRT1305486	hsa-miR-195	CLIP-seq
MIRT2090378	hsa-miR-2278	CLIP-seq
MIRT2090379	hsa-miR-3183	CLIP-seq
MIRT1305492	hsa-miR-326	CLIP-seq
MIRT1305493	hsa-miR-330-5p	CLIP-seq
MIRT1305498	hsa-miR-424	CLIP-seq
MIRT1305451	hsa-miR-4268	CLIP-seq
MIRT2090380	hsa-miR-4319	CLIP-seq
MIRT2090381	hsa-miR-4650-5p	CLIP-seq
MIRT2090382	hsa-miR-4723-3p	CLIP-seq
MIRT2090383	hsa-miR-4732-3p	CLIP-seq
MIRT1305508	hsa-miR-497	CLIP-seq
MIRT2090384	hsa-miR-670	CLIP-seq
MIRT1305451	hsa-miR-4268	CLIP-seq
MIRT2315256	hsa-miR-1200	CLIP-seq
MIRT1305481	hsa-miR-15a	CLIP-seq
MIRT1305482	hsa-miR-15b	CLIP-seq
MIRT1305483	hsa-miR-16	CLIP-seq
MIRT2315257	hsa-miR-1827	CLIP-seq
MIRT2315258	hsa-miR-1910	CLIP-seq
MIRT1305486	hsa-miR-195	CLIP-seq
MIRT2315259	hsa-miR-2355-5p	CLIP-seq
MIRT1305441	hsa-miR-2861	CLIP-seq
MIRT2315260	hsa-miR-3074-5p	CLIP-seq
MIRT2315261	hsa-miR-3126-5p	CLIP-seq
MIRT2315262	hsa-miR-3140-5p	CLIP-seq
MIRT2315263	hsa-miR-3184	CLIP-seq
MIRT2315264	hsa-miR-3612	CLIP-seq
MIRT2315265	hsa-miR-3690	CLIP-seq
MIRT2315266	hsa-miR-423-5p	CLIP-seq
MIRT1305498	hsa-miR-424	CLIP-seq
MIRT2315267	hsa-miR-4254	CLIP-seq
MIRT1305508	hsa-miR-497	CLIP-seq
MIRT2315268	hsa-miR-650	CLIP-seq
MIRT2315269	hsa-miR-661	CLIP-seq
MIRT2458173	hsa-miR-3934	CLIP-seq
MIRT2458174	hsa-miR-4313	CLIP-seq
MIRT2458175	hsa-miR-4726-3p	CLIP-seq
MIRT2458173	hsa-miR-3934	CLIP-seq
MIRT2458174	hsa-miR-4313	CLIP-seq
MIRT2458175	hsa-miR-4726-3p	CLIP-seq

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IEA
GO:0005515	Function	Protein binding	IPI	15107402, 26517842, 27941885, 29276004
GO:0005525	Function	GTP binding	IBA
GO:0005525	Function	GTP binding	IEA
GO:0005856	Component	Cytoskeleton	IBA
GO:0005886	Component	Plasma membrane	IBA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IMP	27941885
GO:0007015	Process	Actin filament organization	IBA
GO:0007163	Process	Establishment or maintenance of cell polarity	IBA
GO:0007165	Process	Signal transduction	IBA
GO:0007264	Process	Small GTPase-mediated signal transduction	IEA
GO:0008360	Process	Regulation of cell shape	IBA
GO:0010008	Component	Endosome membrane	IEA
GO:0010008	Component	Endosome membrane	TAS
GO:0016567	Process	Protein ubiquitination	IDA	27941885
GO:0019901	Function	Protein kinase binding	IBA
GO:0030865	Process	Cortical cytoskeleton organization	IBA
GO:0031410	Component	Cytoplasmic vesicle	IBA
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IDA	27941885
GO:0032956	Process	Regulation of actin cytoskeleton organization	IBA
GO:0042995	Component	Cell projection	IBA
GO:1990756	Function	Ubiquitin-like ligase-substrate adaptor activity	IDA	27941885

MIM	HGNC	e!Ensembl
607352	18756	ENSG00000008853

Q9BYZ6

Protein name

Rho-related BTB domain-containing protein 2 (Deleted in breast cancer 2 gene protein) (p83)

Protein function

Regulator of cell proliferation and apoptosis (PubMed:21801820). It likely functions as a substrate-adapter that recruits key substrates, e.g. MSI2, to CUL3-based ubiquitin ligase complexes for degradation (PubMed:15107402, PubMed:27941885). Req

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00071	Ras	16 → 209	Ras family	Domain
PF00651	BTB	381 → 472	BTB/POZ domain	Domain
PF00651	BTB	490 → 598	BTB/POZ domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous, with highest levels in neural tissues. Expression is also detected in fetal lung, heart, and brain. {ECO:0000269|PubMed:12426103}.

Sequence

MDSDMDYERPNVETIKCVVVGDNAVGKTRLICARACNATLTQYQLLATHVPTVWAIDQYR
VCQEVLERSRDVVDDVSVSLRLWDTFGDHHKDRRFAYGRSDVVVLCFSIANPNSLHHVKT
MWYPEIKHFCPRAPVILVGCQLDLRYADLEAVNRARRPLARPIKPNEILPPEKGREVAKE
LGIPYYETSVVAQFGIKDVFDNAIRAALISRRHLQFWKSHLRNVQRPLLQAPFLPPKPPP
PIIVVPDPPSSSEECPAHLLEDPLCADVILVLQERVRIFAHKIYLSTSSSKFYDLFLMDL
SEGELGGPSEPGGTHPEDHQGHSDQHHHHHHHHHGRDFLLRAASFDVCESVDEAGGSGPA
GLRASTSDGILRGNGTGYLPGRGRVLSSWSRAFVSIQEEMAEDPLTYKSRLMVVVKMDSS
IQPGPFRAVLKYLYTGELDENERDLMHIAHIAELLEVFDLRMMVANILNNEAFMNQEITK
AFHVRRTNRVKECLAKGTFSDVTFILDDGTISAHKPLLISSCDWMAAMFGGPFVESSTRE
VVFPYTSKSCMRAVLEYLYTGMFTSSPDLDDMKLIILANRLCLPHLVALTEQYTVTGLME
ATQMMVDIDGDVLVFLELAQFHCAYQLADWCLHHICTNYNNVCRKFPRDMKAMSPENQEY
FEKHRWPPVWYLKEEDHYQRARKEREKEDYLHLKRQPKRRWLFWNSPSSPSSSAASSSSP
SSSSAVV

Sequence length

727

Interactions

View interactions

	KEGG		Reactome
	Ubiquitin mediated proteolysis		Rho GTPase cycle

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 (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Chorea	Pathogenic	rs1554504684	RCV001003967	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 64	Likely pathogenic; Pathogenic	rs2486999040, rs1342073189, rs1554504681, rs1554504678, rs1554504663, rs1554504684, rs1554504656, rs1563292586, rs1585190351	RCV004799683 RCV003335875 RCV000656374 RCV000656375 RCV000656372 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dystonic disorder	Pathogenic	rs1554504684	RCV001003967	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rett syndrome	Likely pathogenic; Pathogenic	rs1554504681	RCV000585816	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RHOBTB2-related disorder	Pathogenic	rs2486999107	RCV003901269	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs1554504681, rs1554504663	RCV005624416 RCV005624418	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (9)

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.
BASAL CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-NEOPLASTIC PERIPHERAL NERVOUS SYSTEM DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NERVOUS SYSTEM DISEASES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (70)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
2-3 toe syndactyly	Syndactyly Of The Toes	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alternating hemiplegia of childhood	Alternating hemiplegia of childhood	Pubtator	33504645	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	8567889		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	8567889	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	33504645	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	15922864, 18640857		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	LHGDN	18640857		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	17653899		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12370419, 17617377, 17906984, 19937980, 20930524, 21801820, 23546941, 24356943, 27941885		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	12370419, 17023000, 17517369, 17617377, 24485767, 27941885, 35698915	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20930524, 24608665	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	19937980		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	15922864, 18640857		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	26740508, 37165955	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	33504645	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	29768694		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29276004		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	33504645	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	29276004, 29768694		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	31957018, 35315256, 37165955	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	26740508		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64	Epileptic encephalopathy	CLINVAR_DG	29276004, 29768694		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64	Epileptic encephalopathy	UNIPROT_DG	29276004, 29768694		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	26740508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	26740508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	33504645, 37165955	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	23661466		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	23661466	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	19937980		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	34074803	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	34074803	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Bone Neoplasm	Malignant Bone Neoplasm	BEFREE	23777252		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12370419, 17617377, 17906984, 19937980, 20930524, 21801820, 23546941, 24356943, 27941885		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	18762809		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	17906984		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	15922864, 18640857, 24356943		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18762809, 20930524, 21801820		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	12370419, 21801820, 23546941		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12370419, 17653899		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	35315256	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	29276004		★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	33504645	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	20864405		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12370419, 15922864, 17617377, 17906984, 18298893, 18640857, 19937980, 20930524, 21801820, 27941885		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	26740508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	23777252		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	20864405		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Nervous System Diseases	Nervous System Diseases	CTD_human_DG	20864405		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	20864405		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Port-Wine Stain	Phakomatosis pigmentovascularis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	GWASCAT_DG	28598434		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett syndrome	Pubtator	26740508	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rett Syndrome	Rett Syndrome	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizures	Seizures	Pubtator	37165955	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	19937980, 21801820		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	18762809		★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	17906984		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	17906984		★★★★★ ★☆☆☆☆ Found in Text Mining only

RHOBTB2 (Rho related BTB domain containing 2)