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	23524
Gene name	Serine/arginine repetitive matrix 2
Gene symbol	SRRM2
Synonyms (NCBI Gene)	300-KDCWF21Cwc21HSPC075MRD72SRL300SRm300
Chromosome	16
Chromosome location	16p13.3

220

Show/Hide all (220)

miRTarBase ID	miRNA	Experiments	Reference
MIRT025333	hsa-miR-34a-5p	Proteomics	21566225
MIRT025333	hsa-miR-34a-5p	Proteomics	21566225
MIRT025333	hsa-miR-34a-5p	Proteomics	21566225
MIRT029360	hsa-miR-26b-5p	Microarray	19088304
MIRT050213	hsa-miR-25-3p	CLASH	23622248
MIRT049895	hsa-miR-31-5p	CLASH	23622248
MIRT047263	hsa-miR-181b-5p	CLASH	23622248
MIRT046785	hsa-miR-222-3p	CLASH	23622248
MIRT045978	hsa-miR-125b-5p	CLASH	23622248
MIRT045088	hsa-miR-186-5p	CLASH	23622248
MIRT044591	hsa-miR-320a	CLASH	23622248
MIRT043382	hsa-miR-331-3p	CLASH	23622248
MIRT042938	hsa-miR-324-3p	CLASH	23622248
MIRT041079	hsa-miR-504-5p	CLASH	23622248
MIRT040916	hsa-miR-18a-3p	CLASH	23622248
MIRT040335	hsa-miR-615-3p	CLASH	23622248
MIRT039202	hsa-miR-769-5p	CLASH	23622248
MIRT039116	hsa-miR-769-3p	CLASH	23622248
MIRT037946	hsa-miR-505-5p	CLASH	23622248
MIRT037831	hsa-miR-455-3p	CLASH	23622248
MIRT037385	hsa-miR-744-5p	CLASH	23622248
MIRT037385	hsa-miR-744-5p	CLASH	23622248
MIRT037298	hsa-miR-877-5p	CLASH	23622248
MIRT1389844	hsa-miR-1262	CLIP-seq
MIRT1389845	hsa-miR-1275	CLIP-seq
MIRT1389846	hsa-miR-2110	CLIP-seq
MIRT1389847	hsa-miR-27a	CLIP-seq
MIRT1389848	hsa-miR-27b	CLIP-seq
MIRT1389849	hsa-miR-3143	CLIP-seq
MIRT1389850	hsa-miR-3153	CLIP-seq
MIRT1389851	hsa-miR-3154	CLIP-seq
MIRT1389852	hsa-miR-3165	CLIP-seq
MIRT1389853	hsa-miR-3166	CLIP-seq
MIRT1389854	hsa-miR-3185	CLIP-seq
MIRT1389855	hsa-miR-3194-3p	CLIP-seq
MIRT1389856	hsa-miR-361-3p	CLIP-seq
MIRT1389857	hsa-miR-3653	CLIP-seq
MIRT1389858	hsa-miR-3658	CLIP-seq
MIRT1389859	hsa-miR-4259	CLIP-seq
MIRT1389860	hsa-miR-4271	CLIP-seq
MIRT1389861	hsa-miR-4455	CLIP-seq
MIRT1389862	hsa-miR-4474-3p	CLIP-seq
MIRT1389863	hsa-miR-4475	CLIP-seq
MIRT1389864	hsa-miR-4511	CLIP-seq
MIRT1389865	hsa-miR-4643	CLIP-seq
MIRT1389866	hsa-miR-4665-5p	CLIP-seq
MIRT1389867	hsa-miR-4667-5p	CLIP-seq
MIRT1389868	hsa-miR-4700-5p	CLIP-seq
MIRT1389869	hsa-miR-4701-3p	CLIP-seq
MIRT1389870	hsa-miR-4723-5p	CLIP-seq
MIRT1389871	hsa-miR-4725-3p	CLIP-seq
MIRT1389872	hsa-miR-4728-5p	CLIP-seq
MIRT1389873	hsa-miR-4731-5p	CLIP-seq
MIRT1389874	hsa-miR-4798-3p	CLIP-seq
MIRT1389875	hsa-miR-483-3p	CLIP-seq
MIRT1389876	hsa-miR-494	CLIP-seq
MIRT1389877	hsa-miR-513a-5p	CLIP-seq
MIRT1389878	hsa-miR-520a-5p	CLIP-seq
MIRT1389879	hsa-miR-525-5p	CLIP-seq
MIRT1389880	hsa-miR-532-3p	CLIP-seq
MIRT1389881	hsa-miR-532-5p	CLIP-seq
MIRT1389882	hsa-miR-543	CLIP-seq
MIRT1389883	hsa-miR-609	CLIP-seq
MIRT1389884	hsa-miR-662	CLIP-seq
MIRT1389885	hsa-miR-760	CLIP-seq
MIRT1389886	hsa-miR-873	CLIP-seq
MIRT1389844	hsa-miR-1262	CLIP-seq
MIRT1389845	hsa-miR-1275	CLIP-seq
MIRT2116778	hsa-miR-2278	CLIP-seq
MIRT2116779	hsa-miR-300	CLIP-seq
MIRT2116780	hsa-miR-3140-5p	CLIP-seq
MIRT1389851	hsa-miR-3154	CLIP-seq
MIRT1389852	hsa-miR-3165	CLIP-seq
MIRT1389853	hsa-miR-3166	CLIP-seq
MIRT2116781	hsa-miR-345	CLIP-seq
MIRT2116782	hsa-miR-3545-3p	CLIP-seq
MIRT1389856	hsa-miR-361-3p	CLIP-seq
MIRT1389857	hsa-miR-3653	CLIP-seq
MIRT1389858	hsa-miR-3658	CLIP-seq
MIRT2116783	hsa-miR-3713	CLIP-seq
MIRT2116784	hsa-miR-381	CLIP-seq
MIRT1389859	hsa-miR-4259	CLIP-seq
MIRT2116785	hsa-miR-4428	CLIP-seq
MIRT2116786	hsa-miR-4446-3p	CLIP-seq
MIRT1389861	hsa-miR-4455	CLIP-seq
MIRT2116787	hsa-miR-4468	CLIP-seq
MIRT1389862	hsa-miR-4474-3p	CLIP-seq
MIRT1389863	hsa-miR-4475	CLIP-seq
MIRT2116788	hsa-miR-4480	CLIP-seq
MIRT2116789	hsa-miR-4505	CLIP-seq
MIRT2116790	hsa-miR-4539	CLIP-seq
MIRT2116791	hsa-miR-4645-5p	CLIP-seq
MIRT1389866	hsa-miR-4665-5p	CLIP-seq
MIRT2116792	hsa-miR-4666-3p	CLIP-seq
MIRT2116793	hsa-miR-4673	CLIP-seq
MIRT1389869	hsa-miR-4701-3p	CLIP-seq
MIRT2116794	hsa-miR-4718	CLIP-seq
MIRT1389870	hsa-miR-4723-5p	CLIP-seq
MIRT1389872	hsa-miR-4728-5p	CLIP-seq
MIRT1389873	hsa-miR-4731-5p	CLIP-seq
MIRT2116795	hsa-miR-4789-5p	CLIP-seq
MIRT1389875	hsa-miR-483-3p	CLIP-seq
MIRT1389876	hsa-miR-494	CLIP-seq
MIRT2116796	hsa-miR-508-5p	CLIP-seq
MIRT2116797	hsa-miR-513b	CLIP-seq
MIRT1389878	hsa-miR-520a-5p	CLIP-seq
MIRT1389879	hsa-miR-525-5p	CLIP-seq
MIRT1389880	hsa-miR-532-3p	CLIP-seq
MIRT1389881	hsa-miR-532-5p	CLIP-seq
MIRT1389883	hsa-miR-609	CLIP-seq
MIRT1389845	hsa-miR-1275	CLIP-seq
MIRT2339186	hsa-miR-1292	CLIP-seq
MIRT2339187	hsa-miR-1299	CLIP-seq
MIRT1389846	hsa-miR-2110	CLIP-seq
MIRT2116779	hsa-miR-300	CLIP-seq
MIRT1389851	hsa-miR-3154	CLIP-seq
MIRT1389854	hsa-miR-3185	CLIP-seq
MIRT1389855	hsa-miR-3194-3p	CLIP-seq
MIRT2339188	hsa-miR-3667-3p	CLIP-seq
MIRT2116784	hsa-miR-381	CLIP-seq
MIRT2339189	hsa-miR-3925-3p	CLIP-seq
MIRT1389860	hsa-miR-4271	CLIP-seq
MIRT2339190	hsa-miR-4292	CLIP-seq
MIRT2339191	hsa-miR-4471	CLIP-seq
MIRT1389862	hsa-miR-4474-3p	CLIP-seq
MIRT1389863	hsa-miR-4475	CLIP-seq
MIRT1389864	hsa-miR-4511	CLIP-seq
MIRT2339192	hsa-miR-4525	CLIP-seq
MIRT2339193	hsa-miR-4645-3p	CLIP-seq
MIRT2339194	hsa-miR-4646-5p	CLIP-seq
MIRT1389866	hsa-miR-4665-5p	CLIP-seq
MIRT2116792	hsa-miR-4666-3p	CLIP-seq
MIRT1389867	hsa-miR-4667-5p	CLIP-seq
MIRT1389868	hsa-miR-4700-5p	CLIP-seq
MIRT2339195	hsa-miR-4705	CLIP-seq
MIRT1389870	hsa-miR-4723-5p	CLIP-seq
MIRT1389871	hsa-miR-4725-3p	CLIP-seq
MIRT1389872	hsa-miR-4728-5p	CLIP-seq
MIRT1389873	hsa-miR-4731-5p	CLIP-seq
MIRT2339196	hsa-miR-4782-5p	CLIP-seq
MIRT2116795	hsa-miR-4789-5p	CLIP-seq
MIRT1389874	hsa-miR-4798-3p	CLIP-seq
MIRT1389875	hsa-miR-483-3p	CLIP-seq
MIRT2116797	hsa-miR-513b	CLIP-seq
MIRT2339197	hsa-miR-516b	CLIP-seq
MIRT1389878	hsa-miR-520a-5p	CLIP-seq
MIRT1389879	hsa-miR-525-5p	CLIP-seq
MIRT1389880	hsa-miR-532-3p	CLIP-seq
MIRT2339198	hsa-miR-625	CLIP-seq
MIRT1389884	hsa-miR-662	CLIP-seq
MIRT1389885	hsa-miR-760	CLIP-seq
MIRT2116780	hsa-miR-3140-5p	CLIP-seq
MIRT2116782	hsa-miR-3545-3p	CLIP-seq
MIRT2116789	hsa-miR-4505	CLIP-seq
MIRT2116790	hsa-miR-4539	CLIP-seq
MIRT2116791	hsa-miR-4645-5p	CLIP-seq
MIRT2116793	hsa-miR-4673	CLIP-seq
MIRT1389873	hsa-miR-4731-5p	CLIP-seq
MIRT2116796	hsa-miR-508-5p	CLIP-seq
MIRT2632995	hsa-miR-1224-3p	CLIP-seq
MIRT2632996	hsa-miR-1260	CLIP-seq
MIRT2632997	hsa-miR-1260b	CLIP-seq
MIRT1389845	hsa-miR-1275	CLIP-seq
MIRT2632998	hsa-miR-1280	CLIP-seq
MIRT2632999	hsa-miR-1470	CLIP-seq
MIRT2116780	hsa-miR-3140-5p	CLIP-seq
MIRT2116782	hsa-miR-3545-3p	CLIP-seq
MIRT1389856	hsa-miR-361-3p	CLIP-seq
MIRT1389857	hsa-miR-3653	CLIP-seq
MIRT1389858	hsa-miR-3658	CLIP-seq
MIRT2116783	hsa-miR-3713	CLIP-seq
MIRT2633000	hsa-miR-3938	CLIP-seq
MIRT1389859	hsa-miR-4259	CLIP-seq
MIRT2116789	hsa-miR-4505	CLIP-seq
MIRT1389864	hsa-miR-4511	CLIP-seq
MIRT2116790	hsa-miR-4539	CLIP-seq
MIRT1389865	hsa-miR-4643	CLIP-seq
MIRT2116791	hsa-miR-4645-5p	CLIP-seq
MIRT1389866	hsa-miR-4665-5p	CLIP-seq
MIRT2633001	hsa-miR-4667-3p	CLIP-seq
MIRT2116793	hsa-miR-4673	CLIP-seq
MIRT2633002	hsa-miR-4698	CLIP-seq
MIRT2116794	hsa-miR-4718	CLIP-seq
MIRT1389870	hsa-miR-4723-5p	CLIP-seq
MIRT1389872	hsa-miR-4728-5p	CLIP-seq
MIRT1389873	hsa-miR-4731-5p	CLIP-seq
MIRT1389876	hsa-miR-494	CLIP-seq
MIRT2116796	hsa-miR-508-5p	CLIP-seq
MIRT2116797	hsa-miR-513b	CLIP-seq
MIRT1389880	hsa-miR-532-3p	CLIP-seq
MIRT1389881	hsa-miR-532-5p	CLIP-seq
MIRT2633003	hsa-miR-548aa	CLIP-seq
MIRT2633004	hsa-miR-548ac	CLIP-seq
MIRT2633005	hsa-miR-548d-3p	CLIP-seq
MIRT2633006	hsa-miR-548z	CLIP-seq
MIRT2633007	hsa-miR-642a	CLIP-seq
MIRT2632995	hsa-miR-1224-3p	CLIP-seq
MIRT2632996	hsa-miR-1260	CLIP-seq
MIRT2632997	hsa-miR-1260b	CLIP-seq
MIRT1389845	hsa-miR-1275	CLIP-seq
MIRT2632998	hsa-miR-1280	CLIP-seq
MIRT2632999	hsa-miR-1470	CLIP-seq
MIRT2116780	hsa-miR-3140-5p	CLIP-seq
MIRT2116782	hsa-miR-3545-3p	CLIP-seq
MIRT1389856	hsa-miR-361-3p	CLIP-seq
MIRT2116783	hsa-miR-3713	CLIP-seq
MIRT2633000	hsa-miR-3938	CLIP-seq
MIRT1389859	hsa-miR-4259	CLIP-seq
MIRT2116789	hsa-miR-4505	CLIP-seq
MIRT2116790	hsa-miR-4539	CLIP-seq
MIRT2116791	hsa-miR-4645-5p	CLIP-seq
MIRT1389866	hsa-miR-4665-5p	CLIP-seq
MIRT2633001	hsa-miR-4667-3p	CLIP-seq
MIRT2116793	hsa-miR-4673	CLIP-seq
MIRT1389870	hsa-miR-4723-5p	CLIP-seq
MIRT1389872	hsa-miR-4728-5p	CLIP-seq
MIRT1389873	hsa-miR-4731-5p	CLIP-seq
MIRT2116796	hsa-miR-508-5p	CLIP-seq
MIRT1389880	hsa-miR-532-3p	CLIP-seq
MIRT2633007	hsa-miR-642a	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000398	Process	MRNA splicing, via spliceosome	IC	11991638
GO:0000398	Process	MRNA splicing, via spliceosome	IDA	28076346
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0003729	Function	MRNA binding	IBA
GO:0005515	Function	Protein binding	IPI	17577209, 22365833, 25852190, 28514442, 32707033, 33961781
GO:0005634	Component	Nucleus	IDA	28062851, 28076346
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0015030	Component	Cajal body	IDA	17577209
GO:0016607	Component	Nuclear speck	IDA	17577209
GO:0016607	Component	Nuclear speck	IEA
GO:0070742	Function	C2H2 zinc finger domain binding	IDA	17577209
GO:0071005	Component	U2-type precatalytic spliceosome	IDA	29361316
GO:0071007	Component	U2-type catalytic step 2 spliceosome	IDA	28076346
GO:0071013	Component	Catalytic step 2 spliceosome	IDA	11991638

MIM	HGNC	e!Ensembl
606032	16639	ENSG00000167978

Q9UQ35

Protein name

Serine/arginine repetitive matrix protein 2 (300 kDa nuclear matrix antigen) (Serine/arginine-rich splicing factor-related nuclear matrix protein of 300 kDa) (SR-related nuclear matrix protein of 300 kDa) (Ser/Arg-related nuclear matrix protein of 300 kDa

Protein function

Required for pre-mRNA splicing as component of the spliceosome. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable). {ECO:0000269|PubMed:19854871, ECO:0000269|PubMed:28076346, ECO:0000269

PDB

5MQF , 5XJC , 5YZG , 5Z56 , 5Z57 , 6FF4 , 6FF7 , 6ICZ , 6QDV , 6ZYM , 7A5P , 7DVQ , 7QTT , 7W59 , 7W5A , 7W5B , 8C6J , 8CH6 , 8I0R , 8I0S , 8I0T , 8I0U , 8I0V , 8I0W , 9FMD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08312	cwf21	58 → 101	cwf21 domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in liver, placenta, and white blood cells. {ECO:0000269|PubMed:11004489}.

Sequence

MYNGIGLPTPRGSGTNGYVQRNLSLVRGRRGERPDYKGEEELRRLEAALVKRPNPDILDH
ERKRRVELRCLELEEMMEEQGYEEQQIQEKVATFRLMLLEKDVNPGGKEETPGQRPAVTE
THQLAELNEKKNERLRAAFGISDSYVDGSSFDPQRRAREAKQPAPEPPKPYSLVRESSSS
RSPTPKQKKKKKKKDRGRRSESSSPRRERKKSSKKKKHRSESESKKRKHRSPTPKSKRKS
KDKKRKRSRSTTPAPKSRRAHRSTSADSASSSDTSRSRSRSAAAKTHTTALAGRSPSPAS
GRRGEGDAPFSEPGTTSTQRPSSPETATKQPSSPYEDKDKDKKEKSATRPSPSPERSSTG
PEPPAPTPLLAERHGGSPQPLATTPLSQEPVNPPSEASPTRDRSPPKSPEKLPQSSSSES
SPPSPQPTKVSRHASSSPESPKPAPAPGSHREISSSPTSKNRSHGRAKRDKSHSHTPSRR
MGRSRSPATAKRGRSRSRTPTKRGHSRSRSPQWRRSRSAQRWGRSRSPQRRGRSRSPQRP
GWSRSRNTQRRGRSRSARRGRSHSRSPATRGRSRSRTPARRGRSRSRTPARRRSRSRTPT
RRRSRSRTPARRGRSRSRTPARRRSRTRSPVRRRSRSRSPARRSGRSRSRTPARRGRSRS
RTPARRGRSRSRTPARRSGRSRSRTPARRGRSRSRTPRRGRSRSRSLVRRGRSHSRTPQR
RGRSGSSSERKNKSRTSQRRSRSNSSPEMKKSRISSRRSRSLSSPRSKAKSRLSLRRSLS
GSSPCPKQKSQTPPRRSRSGSSQPKAKSRTPPRRSRSSSSPPPKQKSKTPSRQSHSSSSP
HPKVKSGTPPRQGSITSPQANEQSVTPQRRSCFESSPDPELKSRTPSRHSCSGSSPPRVK
SSTPPRQSPSRSSSPQPKVKAIISPRQRSHSGSSSPSPSRVTSRTTPRRSRSVSPCSNVE
SRLLPRYSHSGSSSPDTKVKPETPPRQSHSGSISPYPKVKAQTPPGPSLSGSKSPCPQEK
SKDSLVQSCPGSLSLCAGVKSSTPPGESYFGVSSLQLKGQSQTSPDHRSDTSSPEVRQSH
SESPSLQSKSQTSPKGGRSRSSSPVTELASRSPIRQDRGEFSASPMLKSGMSPEQSRFQS
DSSSYPTVDSNSLLGQSRLETAESKEKMALPPQEDATASPPRQKDKFSPFPVQDRPESSL
VFKDTLRTPPRERSGAGSSPETKEQNSALPTSSQDEELMEVVEKSEEPAGQILSHLSSEL
KEMSTSNFESSPEVEERPAVSLTLDQSQSQASLEAVEVPSMASSWGGPHFSPEHKELSNS
PLRENSFGSPLEFRNSGPLGTEMNTGFSSEVKEDLNGPFLNQLETDPSLDMKEQSTRSSG
HSSSELSPDAVEKAGMSSNQSISSPVLDAVPRTPSRERSSSASSPEMKDGLPRTPSRRSR
SGSSPGLRDGSGTPSRHSLSGSSPGMKDIPRTPSRGRSECDSSPEPKALPQTPRPRSRSP
SSPELNNKCLTPQRERSGSESSVDQKTVARTPLGQRSRSGSSQELDVKPSASPQERSESD
SSPDSKAKTRTPLRQRSRSGSSPEVDSKSRLSPRRSRSGSSPEVKDKPRAAPRAQSGSDS
SPEPKAPAPRALPRRSRSGSSSKGRGPSPEGSSSTESSPEHPPKSRTARRGSRSSPEPKT
KSRTPPRRRSSRSSPELTRKARLSRRSRSASSSPETRSRTPPRHRRSPSVSSPEPAEKSR
SSRRRRSASSPRTKTTSRRGRSPSPKPRGLQRSRSRSRREKTRTTRRRDRSGSSQSTSRR
RQRSRSRSRVTRRRRGGSGYHSRSPARQESSRTSSRRRRGRSRTPPTSRKRSRSRTSPAP
WKRSRSRASPATHRRSRSRTPLISRRRSRSRTSPVSRRRSRSRTSVTRRRSRSRASPVSR
RRSRSRTPPVTRRRSRSRTPTTRRRSRSRTPPVTRRRSRSRTPPVTRRRSRSRTSPITRR
RSRSRTSPVTRRRSRSRTSPVTRRRSRSRTSPVTRRRSRSRTPPAIRRRSRSRTPLLPRK
RSRSRSPLAIRRRSRSRTPRTARGKRSLTRSPPAIRRRSASGSSSDRSRSATPPATRNHS
GSRTPPVALNSSRMSCFSRPSMSPTPLDRCRSPGMLEPLGSSRTPMSVLQQAGGSMMDGP
GPRIPDHQRTSVPENHAQSRIALALTAISLGTARPPPSMSAAGLAARMSQVPAPVPLMSL
RTAPAANLASRIPAASAAAMNLASARTPAIPTAVNLADSRTPAAAAAMNLASPRTAVAPS
AVNLADPRTPTAPAVNLAGARTPAALAALSLTGSGTPPTAANYPSSSRTPQAPASANLVG
PRSAHATAPVNIAGSRTAAALAPASLTSARMAPALSGANLTSPRVPLSAYERVSGRTSPP
LLDRARSRTPPSAPSQSRMTSERAPSPSSRMGQAPSQSLLPPAQDQPRSPVPSAFSDQSR
CLIAQTTPVAGSQSLSSGAVATTTSSAGDHNGMLSVPAPGVPHSDVGEPPASTGAQQPSA
LAALQPAKERRSSSSSSSSSSSSSSSSSSSSSSSSSGSSSSDSEGSSLPVQPEVALKRVP
SPTPAPKEAVREGRPPEPTPAKRKRRSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSS
SSSSSSSSPSPAKPGPQALPKPASPKKPPPGERRSRSPRKPIDSLRDSRSLSYSPVERRR
PSPQPSPRDQQSSSSERGSRRGQRGDSRSPSHKRRRETPSPRPMRHRSSRSP

Sequence length

2752

Interactions

View interactions

	Reactome
			mRNA Splicing - Major Pathway

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
Complex febrile seizure	Likely pathogenic	rs2505614378	RCV002286480	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual developmental disorder, autosomal dominant 72	Pathogenic; Likely pathogenic	rs2150776793, rs2150776534, rs2150777933, rs2150779172, rs747576963, rs760736029, rs2150776380, rs2505618143, rs2505609700, rs2505602121	RCV003238148 RCV003238149 RCV003238150 RCV003238151 RCV003238152 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder	Pathogenic; Likely pathogenic	rs2150776793, rs2150776534, rs2150777933, rs2150777403, rs2150776824, rs1464581573, rs2150778065, rs2150778293, rs2150778741, rs764663923, rs2150775947, rs2150779172, rs747576963, rs760736029, rs2150776380 View all (5 more)	RCV001780025 RCV001780026 RCV001807702 RCV001807703 RCV001807704 View all (15 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Seizure	Likely pathogenic	rs2505614378	RCV002286480	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SRRM2-related disorder	Likely pathogenic	rs2505606471, rs2505591396, rs1188022140	RCV003400400 RCV003397365 RCV003420906	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Status epilepticus	Likely pathogenic	rs2505614378	RCV002286480	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (12)

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.
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DELAY, OVERWEIGHT, FACIAL DYSMORPHISM, BEHAVIORAL ABNORMALITIES SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DELAY-OVERWEIGHT-FACIAL DYSMORPHISM-BEHAVIORAL ABNORMALITIES SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SRRM2-related Neurodevelopmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (88)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	19781077, 19833869, 20133711, 22055719, 22957047, 23042786, 24262168, 24840975, 24899262, 24920338, 25239623, 25429138, 26330466, 26895297, 28549443 View all (6 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Familial	Amyotrophic lateral sclerosis	BEFREE	19781077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	BEFREE	23046583		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	30340104		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	30340104		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	35567594	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	35567594	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19728080, 24840202		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	14562043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	12644826, 15205328, 24722255, 28038443		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	20727170, 26717985, 31462944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	24960161		★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	25362645		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	25362645		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	24960161		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	19686745		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31064870		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	24960161		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20219773		★★★★★ ★☆☆☆☆ Found in Text Mining only
Delirium, Dementia, Amnestic, Cognitive Disorders	Delirium, Dementia, Amnestic, Cognitive Disorders	BEFREE	24103357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	35567594, 37621647, 40225164	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	25528059		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	28724967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	20727170		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	35346324	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	24840975		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	12594214, 21900387, 24462888		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	19781077, 23042786, 28663553		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	18223198, 19833869, 20133711, 22957047, 24840975, 26895297		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	26100017		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	26100017		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	26933087, 28790173		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hamman-Rich syndrome	Hamman-Rich syndrome	BEFREE	30665514		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	32938406	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	30283027		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	30283027		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	35567594, 40225164	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	31400113		★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	35567594, 37621647	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	35929045	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	30799057		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	29784880	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	12054577, 26346275, 31762817		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	11549587		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	12054577		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	15159028		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19728080, 24840202		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	22646166		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	11549587, 15184870		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	12644826, 15205328, 24722255, 28038443		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	26717985, 31462944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	29286182, 31355266		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24823909, 29658587, 30078000, 30746571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	14562043, 17927519, 18481990, 20157568, 20305372, 21565971, 23807417, 24516048, 24722255, 25362645, 26046131, 26149387, 27615744, 27940961, 29124478, 29496759, 29658587, 30266754 View all (3 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Squamous Cell Neoplasm	Neoplasm	BEFREE	12644826		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	25362645		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	19686745		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	18454174, 20439467, 30936459		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	28493484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	38289482	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	26362252		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	9371827		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	31742692		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	14562043, 20186023, 24532040, 26056275, 26189797, 26438629, 26602816, 26933087, 27771769, 28731284, 30078000, 30370480		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurocognitive Disorders	Neurocognitive Disorders	BEFREE	24103357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	19781077, 20133711, 23721326, 24842888, 28912172, 30357366, 30692134		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	30014466		★★★★★ ★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C	Niemann-Pick Disease	BEFREE	31742692		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	30664220		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	21862584		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	26717985, 31462944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	29286182, 31355266		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	26135620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	15827745, 20161708		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	20161708	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	33171483	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	24262168		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	28663553		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	14654946, 24823909, 29658587, 30078000, 30746571		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20219773		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	36914870	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	22016766, 27941877		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	24085785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	20816961		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24796666		★★★★★ ★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	31253634, 31754036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	26135620	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	27530615	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SRRM2 (serine/arginine repetitive matrix 2)