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	27316
Gene name	RNA binding motif protein X-linked
Gene symbol	RBMX
Synonyms (NCBI Gene)	HNRNPGHNRPGMRXS11MRXSGMRXSHRBMXP1RBMXRTRNMXhnRNP-G
Chromosome	X
Chromosome location	Xq26.3
Summary	This gene belongs to the RBMY gene family which includes candidate Y chromosome spermatogenesis genes. This gene, an active X chromosome homolog of the Y chromosome RBMY gene, is widely expressed whereas the RBMY gene evolved a male-specific function in s

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs181515589	A>G	Likely-pathogenic	Intron variant

275

Show/Hide all (275)

miRTarBase ID	miRNA	Experiments	Reference
MIRT048174	hsa-miR-196a-5p	CLASH	23622248
MIRT047229	hsa-miR-181b-5p	CLASH	23622248
MIRT045695	hsa-miR-126-3p	CLASH	23622248
MIRT1297188	hsa-miR-1245	CLIP-seq
MIRT1297189	hsa-miR-3126-3p	CLIP-seq
MIRT1297190	hsa-miR-3156-5p	CLIP-seq
MIRT1297191	hsa-miR-3168	CLIP-seq
MIRT1297192	hsa-miR-3609	CLIP-seq
MIRT1297193	hsa-miR-3663-5p	CLIP-seq
MIRT1297194	hsa-miR-3692	CLIP-seq
MIRT1297195	hsa-miR-369-3p	CLIP-seq
MIRT1297196	hsa-miR-374a	CLIP-seq
MIRT1297197	hsa-miR-374b	CLIP-seq
MIRT1297198	hsa-miR-3920	CLIP-seq
MIRT1297199	hsa-miR-548ah	CLIP-seq
MIRT1297200	hsa-miR-548t	CLIP-seq
MIRT1297201	hsa-miR-1238	CLIP-seq
MIRT1297202	hsa-miR-1275	CLIP-seq
MIRT1297203	hsa-miR-146a	CLIP-seq
MIRT1297204	hsa-miR-146b-5p	CLIP-seq
MIRT1297205	hsa-miR-2964a-3p	CLIP-seq
MIRT1297206	hsa-miR-3124-3p	CLIP-seq
MIRT1297207	hsa-miR-3148	CLIP-seq
MIRT1297208	hsa-miR-3153	CLIP-seq
MIRT1297209	hsa-miR-3163	CLIP-seq
MIRT1297210	hsa-miR-3202	CLIP-seq
MIRT1297211	hsa-miR-3607-5p	CLIP-seq
MIRT1297212	hsa-miR-3620	CLIP-seq
MIRT1297213	hsa-miR-3671	CLIP-seq
MIRT1297214	hsa-miR-3678-3p	CLIP-seq
MIRT1297194	hsa-miR-3692	CLIP-seq
MIRT1297215	hsa-miR-376c	CLIP-seq
MIRT1297216	hsa-miR-3908	CLIP-seq
MIRT1297217	hsa-miR-4271	CLIP-seq
MIRT1297218	hsa-miR-4282	CLIP-seq
MIRT1297219	hsa-miR-4307	CLIP-seq
MIRT1297220	hsa-miR-4436b-5p	CLIP-seq
MIRT1297221	hsa-miR-4453	CLIP-seq
MIRT1297222	hsa-miR-4457	CLIP-seq
MIRT1297223	hsa-miR-4461	CLIP-seq
MIRT1297224	hsa-miR-4471	CLIP-seq
MIRT1297225	hsa-miR-4525	CLIP-seq
MIRT1297226	hsa-miR-4538	CLIP-seq
MIRT1297227	hsa-miR-4646-5p	CLIP-seq
MIRT1297228	hsa-miR-4665-5p	CLIP-seq
MIRT1297229	hsa-miR-4668-5p	CLIP-seq
MIRT1297230	hsa-miR-4694-3p	CLIP-seq
MIRT1297231	hsa-miR-4723-5p	CLIP-seq
MIRT1297232	hsa-miR-4725-3p	CLIP-seq
MIRT1297233	hsa-miR-4731-5p	CLIP-seq
MIRT1297234	hsa-miR-4747-5p	CLIP-seq
MIRT1297235	hsa-miR-4763-5p	CLIP-seq
MIRT1297236	hsa-miR-4802-5p	CLIP-seq
MIRT1297237	hsa-miR-513b	CLIP-seq
MIRT1297238	hsa-miR-522	CLIP-seq
MIRT1297239	hsa-miR-548c-3p	CLIP-seq
MIRT1297240	hsa-miR-579	CLIP-seq
MIRT1297241	hsa-miR-589	CLIP-seq
MIRT1297242	hsa-miR-603	CLIP-seq
MIRT1297243	hsa-miR-625	CLIP-seq
MIRT1297244	hsa-miR-7	CLIP-seq
MIRT2088325	hsa-miR-1225-5p	CLIP-seq
MIRT1297201	hsa-miR-1238	CLIP-seq
MIRT2088326	hsa-miR-1244	CLIP-seq
MIRT2088327	hsa-miR-1262	CLIP-seq
MIRT1297202	hsa-miR-1275	CLIP-seq
MIRT2088328	hsa-miR-136	CLIP-seq
MIRT2088329	hsa-miR-299-5p	CLIP-seq
MIRT1297206	hsa-miR-3124-3p	CLIP-seq
MIRT2088330	hsa-miR-3132	CLIP-seq
MIRT1297208	hsa-miR-3153	CLIP-seq
MIRT2088331	hsa-miR-3189-3p	CLIP-seq
MIRT1297210	hsa-miR-3202	CLIP-seq
MIRT2088332	hsa-miR-338-3p	CLIP-seq
MIRT1297211	hsa-miR-3607-5p	CLIP-seq
MIRT1297194	hsa-miR-3692	CLIP-seq
MIRT1297215	hsa-miR-376c	CLIP-seq
MIRT2088333	hsa-miR-3940-5p	CLIP-seq
MIRT1297217	hsa-miR-4271	CLIP-seq
MIRT2088334	hsa-miR-4310	CLIP-seq
MIRT2088335	hsa-miR-4435	CLIP-seq
MIRT1297220	hsa-miR-4436b-5p	CLIP-seq
MIRT1297221	hsa-miR-4453	CLIP-seq
MIRT1297222	hsa-miR-4457	CLIP-seq
MIRT1297224	hsa-miR-4471	CLIP-seq
MIRT2088336	hsa-miR-4507	CLIP-seq
MIRT1297225	hsa-miR-4525	CLIP-seq
MIRT1297226	hsa-miR-4538	CLIP-seq
MIRT2088337	hsa-miR-4540	CLIP-seq
MIRT1297228	hsa-miR-4665-5p	CLIP-seq
MIRT1297230	hsa-miR-4694-3p	CLIP-seq
MIRT2088338	hsa-miR-4698	CLIP-seq
MIRT2088339	hsa-miR-4701-3p	CLIP-seq
MIRT1297231	hsa-miR-4723-5p	CLIP-seq
MIRT1297232	hsa-miR-4725-3p	CLIP-seq
MIRT1297234	hsa-miR-4747-5p	CLIP-seq
MIRT2088340	hsa-miR-4760-5p	CLIP-seq
MIRT2088341	hsa-miR-4803	CLIP-seq
MIRT1297237	hsa-miR-513b	CLIP-seq
MIRT1297238	hsa-miR-522	CLIP-seq
MIRT2088342	hsa-miR-548a-5p	CLIP-seq
MIRT2088343	hsa-miR-548ab	CLIP-seq
MIRT2088344	hsa-miR-548ak	CLIP-seq
MIRT2088345	hsa-miR-548an	CLIP-seq
MIRT2088346	hsa-miR-548b-5p	CLIP-seq
MIRT1297239	hsa-miR-548c-3p	CLIP-seq
MIRT2088347	hsa-miR-548c-5p	CLIP-seq
MIRT2088348	hsa-miR-548d-5p	CLIP-seq
MIRT2088349	hsa-miR-548h	CLIP-seq
MIRT2088350	hsa-miR-548i	CLIP-seq
MIRT2088351	hsa-miR-548j	CLIP-seq
MIRT2088352	hsa-miR-548n	CLIP-seq
MIRT2088353	hsa-miR-548w	CLIP-seq
MIRT2088354	hsa-miR-548y	CLIP-seq
MIRT2088355	hsa-miR-559	CLIP-seq
MIRT1297242	hsa-miR-603	CLIP-seq
MIRT1297243	hsa-miR-625	CLIP-seq
MIRT2088356	hsa-miR-629	CLIP-seq
MIRT2088357	hsa-miR-802	CLIP-seq
MIRT2088325	hsa-miR-1225-5p	CLIP-seq
MIRT2088326	hsa-miR-1244	CLIP-seq
MIRT1297202	hsa-miR-1275	CLIP-seq
MIRT2313273	hsa-miR-2909	CLIP-seq
MIRT2088329	hsa-miR-299-5p	CLIP-seq
MIRT1297206	hsa-miR-3124-3p	CLIP-seq
MIRT2088330	hsa-miR-3132	CLIP-seq
MIRT2313274	hsa-miR-3149	CLIP-seq
MIRT1297208	hsa-miR-3153	CLIP-seq
MIRT2088331	hsa-miR-3189-3p	CLIP-seq
MIRT1297210	hsa-miR-3202	CLIP-seq
MIRT2088332	hsa-miR-338-3p	CLIP-seq
MIRT1297211	hsa-miR-3607-5p	CLIP-seq
MIRT1297212	hsa-miR-3620	CLIP-seq
MIRT2313275	hsa-miR-3677-5p	CLIP-seq
MIRT1297194	hsa-miR-3692	CLIP-seq
MIRT1297215	hsa-miR-376c	CLIP-seq
MIRT2313276	hsa-miR-3923	CLIP-seq
MIRT2313277	hsa-miR-3978	CLIP-seq
MIRT1297217	hsa-miR-4271	CLIP-seq
MIRT2313278	hsa-miR-4278	CLIP-seq
MIRT2088334	hsa-miR-4310	CLIP-seq
MIRT2088335	hsa-miR-4435	CLIP-seq
MIRT1297220	hsa-miR-4436b-5p	CLIP-seq
MIRT1297221	hsa-miR-4453	CLIP-seq
MIRT1297224	hsa-miR-4471	CLIP-seq
MIRT2313279	hsa-miR-4476	CLIP-seq
MIRT1297225	hsa-miR-4525	CLIP-seq
MIRT1297226	hsa-miR-4538	CLIP-seq
MIRT2088337	hsa-miR-4540	CLIP-seq
MIRT1297228	hsa-miR-4665-5p	CLIP-seq
MIRT1297230	hsa-miR-4694-3p	CLIP-seq
MIRT2088338	hsa-miR-4698	CLIP-seq
MIRT2313280	hsa-miR-4703-3p	CLIP-seq
MIRT2313281	hsa-miR-4704-5p	CLIP-seq
MIRT1297231	hsa-miR-4723-5p	CLIP-seq
MIRT1297232	hsa-miR-4725-3p	CLIP-seq
MIRT1297234	hsa-miR-4747-5p	CLIP-seq
MIRT2313282	hsa-miR-4778-5p	CLIP-seq
MIRT2313283	hsa-miR-4795-5p	CLIP-seq
MIRT1297236	hsa-miR-4802-5p	CLIP-seq
MIRT1297238	hsa-miR-522	CLIP-seq
MIRT2088345	hsa-miR-548an	CLIP-seq
MIRT1297239	hsa-miR-548c-3p	CLIP-seq
MIRT2313284	hsa-miR-568	CLIP-seq
MIRT1297242	hsa-miR-603	CLIP-seq
MIRT1297243	hsa-miR-625	CLIP-seq
MIRT2313285	hsa-miR-630	CLIP-seq
MIRT1297244	hsa-miR-7	CLIP-seq
MIRT2088325	hsa-miR-1225-5p	CLIP-seq
MIRT2088326	hsa-miR-1244	CLIP-seq
MIRT2088330	hsa-miR-3132	CLIP-seq
MIRT2088331	hsa-miR-3189-3p	CLIP-seq
MIRT2088337	hsa-miR-4540	CLIP-seq
MIRT2609525	hsa-miR-1273e	CLIP-seq
MIRT2609526	hsa-miR-3143	CLIP-seq
MIRT1297216	hsa-miR-3908	CLIP-seq
MIRT2609527	hsa-miR-543	CLIP-seq
MIRT2609528	hsa-miR-653	CLIP-seq
MIRT2689503	hsa-miR-1179	CLIP-seq
MIRT2689504	hsa-miR-1183	CLIP-seq
MIRT2689505	hsa-miR-1237	CLIP-seq
MIRT2689506	hsa-miR-1261	CLIP-seq
MIRT2689507	hsa-miR-1283	CLIP-seq
MIRT2689508	hsa-miR-141	CLIP-seq
MIRT2689509	hsa-miR-142-3p	CLIP-seq
MIRT2689510	hsa-miR-145	CLIP-seq
MIRT2689511	hsa-miR-1825	CLIP-seq
MIRT2689512	hsa-miR-199a-5p	CLIP-seq
MIRT2689513	hsa-miR-199b-5p	CLIP-seq
MIRT2689514	hsa-miR-200a	CLIP-seq
MIRT2689515	hsa-miR-2053	CLIP-seq
MIRT2689516	hsa-miR-218	CLIP-seq
MIRT2689517	hsa-miR-2277-3p	CLIP-seq
MIRT2689518	hsa-miR-28-3p	CLIP-seq
MIRT2689519	hsa-miR-3065-5p	CLIP-seq
MIRT2689520	hsa-miR-3120-3p	CLIP-seq
MIRT1297209	hsa-miR-3163	CLIP-seq
MIRT2689521	hsa-miR-3164	CLIP-seq
MIRT1297191	hsa-miR-3168	CLIP-seq
MIRT2689522	hsa-miR-3180-5p	CLIP-seq
MIRT2689523	hsa-miR-3185	CLIP-seq
MIRT2689524	hsa-miR-3192	CLIP-seq
MIRT2689525	hsa-miR-320a	CLIP-seq
MIRT2689526	hsa-miR-320b	CLIP-seq
MIRT2689527	hsa-miR-320c	CLIP-seq
MIRT2689528	hsa-miR-320d	CLIP-seq
MIRT2689529	hsa-miR-340	CLIP-seq
MIRT2689530	hsa-miR-3607-3p	CLIP-seq
MIRT2689531	hsa-miR-3611	CLIP-seq
MIRT2689532	hsa-miR-3646	CLIP-seq
MIRT2689533	hsa-miR-3659	CLIP-seq
MIRT2689534	hsa-miR-3662	CLIP-seq
MIRT2689535	hsa-miR-3667-3p	CLIP-seq
MIRT2313275	hsa-miR-3677-5p	CLIP-seq
MIRT2689536	hsa-miR-3689a-3p	CLIP-seq
MIRT2689537	hsa-miR-3689c	CLIP-seq
MIRT2689538	hsa-miR-3691-5p	CLIP-seq
MIRT1297196	hsa-miR-374a	CLIP-seq
MIRT1297197	hsa-miR-374b	CLIP-seq
MIRT2689539	hsa-miR-3977	CLIP-seq
MIRT2689540	hsa-miR-409-5p	CLIP-seq
MIRT2689541	hsa-miR-421	CLIP-seq
MIRT2689542	hsa-miR-4272	CLIP-seq
MIRT2689543	hsa-miR-4297	CLIP-seq
MIRT2689544	hsa-miR-4302	CLIP-seq
MIRT2689545	hsa-miR-4327	CLIP-seq
MIRT2689546	hsa-miR-4429	CLIP-seq
MIRT2689547	hsa-miR-4463	CLIP-seq
MIRT2689548	hsa-miR-4480	CLIP-seq
MIRT2689549	hsa-miR-4501	CLIP-seq
MIRT2689550	hsa-miR-452	CLIP-seq
MIRT2689551	hsa-miR-4646-3p	CLIP-seq
MIRT2689552	hsa-miR-4658	CLIP-seq
MIRT2689553	hsa-miR-4659a-5p	CLIP-seq
MIRT2689554	hsa-miR-4659b-5p	CLIP-seq
MIRT2689555	hsa-miR-4668-3p	CLIP-seq
MIRT2689556	hsa-miR-4676-3p	CLIP-seq
MIRT2088338	hsa-miR-4698	CLIP-seq
MIRT2689557	hsa-miR-4704-3p	CLIP-seq
MIRT2689558	hsa-miR-4709-3p	CLIP-seq
MIRT2689559	hsa-miR-4728-5p	CLIP-seq
MIRT2689560	hsa-miR-4752	CLIP-seq
MIRT2689561	hsa-miR-4760-3p	CLIP-seq
MIRT2689562	hsa-miR-4776-3p	CLIP-seq
MIRT2689563	hsa-miR-4799-5p	CLIP-seq
MIRT2689564	hsa-miR-483-3p	CLIP-seq
MIRT2689565	hsa-miR-491-3p	CLIP-seq
MIRT2689566	hsa-miR-532-5p	CLIP-seq
MIRT2689567	hsa-miR-545	CLIP-seq
MIRT2689568	hsa-miR-548a-3p	CLIP-seq
MIRT2088342	hsa-miR-548a-5p	CLIP-seq
MIRT2088343	hsa-miR-548ab	CLIP-seq
MIRT2088344	hsa-miR-548ak	CLIP-seq
MIRT2088346	hsa-miR-548b-5p	CLIP-seq
MIRT2088347	hsa-miR-548c-5p	CLIP-seq
MIRT2088348	hsa-miR-548d-5p	CLIP-seq
MIRT2689569	hsa-miR-548e	CLIP-seq
MIRT2689570	hsa-miR-548f	CLIP-seq
MIRT2689571	hsa-miR-548g	CLIP-seq
MIRT2088349	hsa-miR-548h	CLIP-seq
MIRT2088350	hsa-miR-548i	CLIP-seq
MIRT2088351	hsa-miR-548j	CLIP-seq
MIRT2689572	hsa-miR-548k	CLIP-seq
MIRT2689573	hsa-miR-548l	CLIP-seq
MIRT2689574	hsa-miR-548p	CLIP-seq
MIRT2088353	hsa-miR-548w	CLIP-seq
MIRT2088354	hsa-miR-548y	CLIP-seq
MIRT2689575	hsa-miR-550b	CLIP-seq
MIRT2088355	hsa-miR-559	CLIP-seq
MIRT2689576	hsa-miR-569	CLIP-seq
MIRT2689577	hsa-miR-574-5p	CLIP-seq
MIRT2689578	hsa-miR-636	CLIP-seq
MIRT2689579	hsa-miR-648	CLIP-seq
MIRT2689580	hsa-miR-668	CLIP-seq
MIRT2689581	hsa-miR-891b	CLIP-seq

Show/Hide all (41)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000381	Process	Regulation of alternative mRNA splicing, via spliceosome	IDA	12165565, 12761049
GO:0000398	Process	MRNA splicing, via spliceosome	IC	11991638
GO:0000791	Component	Euchromatin	IDA	21327109
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	18541147
GO:0001649	Process	Osteoblast differentiation	HDA	16210410
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003682	Function	Chromatin binding	IDA	18541147
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IBA
GO:0003723	Function	RNA binding	IDA	21327109
GO:0003723	Function	RNA binding	IEA
GO:0003723	Function	RNA binding	NAS	7692398
GO:0003729	Function	MRNA binding	IDA	12165565, 12761049
GO:0005515	Function	Protein binding	IPI	10332027, 10749975, 12165565, 14559993, 16189514, 18445477, 21516116, 21988832, 22365833, 24965446, 25416956, 25678563, 25910212, 27107012, 27460707, 29892012, 31413325, 32296183, 32814053, 35271311
GO:0005615	Component	Extracellular space	HDA	23580065
GO:0005634	Component	Nucleus	IDA	10749975, 19282290
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IBA
GO:0005681	Component	Spliceosomal complex	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IDA	21327109
GO:0006397	Process	MRNA processing	IEA
GO:0006509	Process	Membrane protein ectodomain proteolysis	IDA	18445477
GO:0008380	Process	RNA splicing	IEA
GO:0016020	Component	Membrane	HDA	16210410
GO:0019904	Function	Protein domain specific binding	IPI	10749975
GO:0032991	Component	Protein-containing complex	IDA	10749975
GO:0042802	Function	Identical protein binding	IDA	10749975
GO:0042802	Function	Identical protein binding	IPI	25416956, 27107012, 32296183, 35271311
GO:0043226	Component	Organelle	IEA
GO:0044530	Component	Supraspliceosomal complex	IDA	19282290
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	18541147
GO:0048025	Process	Negative regulation of mRNA splicing, via spliceosome	ISS
GO:0048026	Process	Positive regulation of mRNA splicing, via spliceosome	IBA
GO:0048026	Process	Positive regulation of mRNA splicing, via spliceosome	ISS
GO:0051260	Process	Protein homooligomerization	ISS
GO:0070062	Component	Extracellular exosome	IDA	18445477
GO:0071013	Component	Catalytic step 2 spliceosome	IDA	11991638
GO:0071347	Process	Cellular response to interleukin-1	IDA	18445477
GO:1990904	Component	Ribonucleoprotein complex	IEA
GO:1990904	Component	Ribonucleoprotein complex	NAS	7692398

MIM	HGNC	e!Ensembl
300199	9910	ENSG00000147274

P38159

Protein name

RNA-binding motif protein, X chromosome (Glycoprotein p43) (Heterogeneous nuclear ribonucleoprotein G) (hnRNP G) [Cleaved into: RNA-binding motif protein, X chromosome, N-terminally processed]

Protein function

RNA-binding protein that plays several role in the regulation of pre- and post-transcriptional processes. Implicated in tissue-specific regulation of gene transcription and alternative splicing of several pre-mRNAs. Binds to and stimulates trans

PDB

2MB0 , 2MKS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00076	RRM_1	10 → 80	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
PF08081	RBM1CTR	173 → 217	RBM1CTR (NUC064) family	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed strongly in oral keratinocytes, but only weakly detected in oral squamous cell carcinomas (at protein level). {ECO:0000269|PubMed:16707624}.

Sequence

MVEADRPGKLFIGGLNTETNEKALEAVFGKYGRIVEVLLMKDRETNKSRGFAFVTFESPA
DAKDAARDMNGKSLDGKAIKVEQATKPSFESGRRGPPPPPRSRGPPRGLRGGRGGSGGTR
GPPSRGGHMDDGGYSMNFNMSSSRGPLPVKRGPPPRSGGPPPKRSAPSGPVRSSSGMGGR
APVSRGRDSYGGPPRREPLPSRRDVYLSPRDDGYSTKDSYSSRDYPSSRDTRDYAPPPRD
YTYRDYGHSSSRDDYPSRGYSDRDGYGRDRDYSDHPSGGSYRDSYESYGNSRSAPPTRGP
PPSYGGSSRYDDYSSSRDGYGGSRDSYSSSRSDLYSSGRDRVGRQERGLPPSMERGYPPP
RDSYSSSSRGAPRGGGRGGSRSDRGGGRSRY

Sequence length

391

Interactions

View interactions

	KEGG		Reactome
	Spliceosome		mRNA Splicing - Major Pathway Processing of Capped Intron-Containing Pre-mRNA

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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Severe X-linked intellectual disability, Gustavson type	Pathogenic; Likely pathogenic	rs2522762140, rs2522767271	RCV003493372 RCV003988937	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Syndromic X-linked intellectual disability Shashi type	Pathogenic	rs2522753214	RCV000412659	★★★★★ ★★★★☆ 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.
CIC-rearranged sarcoma	not provided	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 11	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, GUSTAVSON TYPE	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SHASHI TYPE	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME, SHASHI TYPE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RBMX-related disorder	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED INTELLECTUAL DISABILITY, SHASHI TYPE	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED MENTAL RETARDATION GUSTAVSON TYPE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (45)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Astrocytoma	Astrocytoma	BEFREE	23673116		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	34914762	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	21840245	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	38214653	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	32251007	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	18541147	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37194014	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	25256757	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	25884434		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	25884434, 34347888	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	36159855, 36466711	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	34404366	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	21723381		★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	32132325	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	25256757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	34260915	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	21840245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	24954872		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	12126635		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	25884434		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	21840245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24954872		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16552754		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, SYNDROMIC 11	Mental Retardation, X-Linked	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, SYNDROMIC 11	Mental Retardation, X-Linked	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	21840245	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	24692659	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16707624, 18474262, 21840245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	19160420		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Orofaciodigital syndrome Shashi type	Orofaciodigital syndrome	Pubtator	25256757, 34260915	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	29156680		★★★★★ ★☆☆☆☆ Found in Text Mining only
Perivascular Epithelioid Cell Neoplasms	Perivascular Epithelioid Neoplasms	BEFREE	31408245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	21723381		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive hearing loss stapes fixation	Hearing loss with stapes fixation	Pubtator	35202564, 40684399	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	36203590	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	18474262		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	18541147	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	21840245	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	34404366	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	36750722	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

RBMX (RNA binding motif protein X-linked)