IGHMBP2 (immunoglobulin mu DNA binding protein 2)

Gene

• Entrez ID: 3508
• Gene name: Immunoglobulin mu DNA binding protein 2
• Gene symbol: IGHMBP2
• Synonyms (NCBI Gene): CATF1, CMT2S, HCSA, HMN6, HMNR1, SMARD1, SMUBP2, ZFAND7
• Chromosome: 11
• Chromosome location: 11q13.3
• Summary: This gene encodes a helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region. Mutations in this gene lead to spinal muscle atrophy with respiratory distress type 1. [provided by RefSeq, Jul 2008]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs7122089	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs35193202	C>A,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Upstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs61731907	C>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs76707931	C>T	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, synonymous variant
rs117061430	C>G,T	Uncertain-significance, likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, missense variant, stop gained
rs137852665	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs137852666	A>G	Pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs137852667	G>A	Likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, 3 prime UTR variant, non coding transcript variant
rs137852668	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, stop gained, non coding transcript variant
rs137852669	T>G	Pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, stop gained, non coding transcript variant
rs137852670	C>G,T	Pathogenic	Synonymous variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant
rs139207271	T>G	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, intron variant, upstream transcript variant
rs139926138	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, synonymous variant
rs140221316	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs141594765	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs142062146	C>T	Conflicting-interpretations-of-pathogenicity	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant
rs145226920	C>A,T	Pathogenic	Genic downstream transcript variant, synonymous variant, coding sequence variant, stop gained, non coding transcript variant
rs147409148	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, genic upstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs147674615	T>A,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs147918962	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, synonymous variant, coding sequence variant
rs148157556	C>T	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Upstream transcript variant, genic upstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs149824485	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs151079750	G>A	Uncertain-significance, pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs199839840	C>T	Uncertain-significance, likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic downstream transcript variant
rs200089714	C>G,T	Pathogenic	5 prime UTR variant, non coding transcript variant, missense variant, stop gained, coding sequence variant, genic upstream transcript variant
rs201060167	T>C	Uncertain-significance, pathogenic	Upstream transcript variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs201147313	G>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs201692151	G>C	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs201970407	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs368775789	C>A,T	Likely-benign, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, 3 prime UTR variant, non coding transcript variant, coding sequence variant, synonymous variant
rs372000714	T>A	Uncertain-significance, pathogenic	Stop gained, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs372181708	C>G,T	Uncertain-significance, pathogenic, likely-pathogenic	Missense variant, stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs373001247	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs556292818	G>A,T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, missense variant, non coding transcript variant
rs557416644	C>G,T	Uncertain-significance, likely-pathogenic	Stop gained, coding sequence variant, missense variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant
rs724159958	T>G	Pathogenic, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs724159959	T>A,G	Pathogenic	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs724159960	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs724159994	AG>-	Pathogenic, likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, frameshift variant
rs746581714	AAGAA>-	Pathogenic, uncertain-significance, likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant
rs750024353	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs750994603	G>-	Pathogenic, uncertain-significance	Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs751549678	C>T	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs754465226	C>G,T	Uncertain-significance, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs756985703	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs759641927	T>C	Uncertain-significance, pathogenic-likely-pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, upstream transcript variant
rs761789207	C>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs770111639	G>A	Likely-pathogenic, uncertain-significance	3 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs773242930	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs773690764	C>T	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, stop gained, coding sequence variant, 5 prime UTR variant
rs777575504	G>A,T	Uncertain-significance, likely-pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs780594709	C>T	Pathogenic-likely-pathogenic, pathogenic, uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs786205089	T>-	Pathogenic	Upstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs786205090	G>A,T	Pathogenic, uncertain-significance, likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs797044802	G>A,T	Pathogenic-likely-pathogenic, pathogenic, uncertain-significance	Splice donor variant, genic upstream transcript variant
rs797044803	G>T	Conflicting-interpretations-of-pathogenicity	Splice donor variant, genic downstream transcript variant
rs863224880	G>A	Pathogenic, likely-pathogenic	Stop gained, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs863224881	A>C	Likely-pathogenic	Missense variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs879253865	T>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs879253886	T>C	Pathogenic	Splice donor variant, genic upstream transcript variant
rs879253887	C>T	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs886042313	ATAGTGG>CA	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs886043773	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs886043774	GA>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs991227431	C>T	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs1000091588	C>T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, non coding transcript variant, genic downstream transcript variant, 3 prime UTR variant
rs1057518588	G>A	Likely-pathogenic	Genic upstream transcript variant, intron variant, splice donor variant
rs1057518943	G>A,C	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, missense variant, 5 prime UTR variant, coding sequence variant
rs1131691657	GGCAGTCAGCTG>ATGCT	Pathogenic	Genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1160978570	G>C,T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1202430946	C>A,T	Pathogenic	3 prime UTR variant, 5 prime UTR variant, intron variant, genic upstream transcript variant
rs1249076926	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, frameshift variant
rs1303837541	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs1324667543	C>T	Pathogenic, uncertain-significance	Genic upstream transcript variant, 5 prime UTR variant, stop gained, coding sequence variant, non coding transcript variant
rs1373247548	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant
rs1555243325	C>G	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant, upstream transcript variant, non coding transcript variant, genic upstream transcript variant
rs1555247732	->A	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant, 3 prime UTR variant
rs1566424655	A>G	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1566430156	C>T	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1566439723	A>G	Pathogenic	Coding sequence variant, missense variant, upstream transcript variant, non coding transcript variant, genic upstream transcript variant
rs1566443170	->T	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1566445029	A>G	Likely-pathogenic	Splice acceptor variant, intron variant, genic downstream transcript variant
rs1594415353	G>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1594427410	C>-	Likely-pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT028922	hsa-miR-26b-5p	Microarray	19088304
MIRT052253	hsa-let-7b-5p	CLASH	23622248
MIRT050680	hsa-miR-18a-5p	CLASH	23622248
MIRT040925	hsa-miR-18a-3p	CLASH	23622248
MIRT037182	hsa-miR-877-3p	CLASH	23622248
MIRT1062366	hsa-miR-2467-5p	CLIP-seq
MIRT1062367	hsa-miR-3151	CLIP-seq
MIRT1062368	hsa-miR-3188	CLIP-seq
MIRT1062369	hsa-miR-3975	CLIP-seq
MIRT1062370	hsa-miR-4447	CLIP-seq
MIRT1062371	hsa-miR-4472	CLIP-seq
MIRT1062372	hsa-miR-4532	CLIP-seq
MIRT1062373	hsa-miR-4649-3p	CLIP-seq
MIRT1062374	hsa-miR-4663	CLIP-seq
MIRT1062375	hsa-miR-4699-5p	CLIP-seq
MIRT1062376	hsa-miR-4728-3p	CLIP-seq
MIRT1062377	hsa-miR-485-5p	CLIP-seq
MIRT1062378	hsa-miR-486-3p	CLIP-seq
MIRT1062379	hsa-miR-491-5p	CLIP-seq
MIRT2014757	hsa-miR-3176	CLIP-seq
MIRT2014758	hsa-miR-3922-3p	CLIP-seq
MIRT2014759	hsa-miR-4701-5p	CLIP-seq
MIRT2014760	hsa-miR-588	CLIP-seq
MIRT2247034	hsa-miR-2355-5p	CLIP-seq
MIRT2247035	hsa-miR-299-3p	CLIP-seq
MIRT2247036	hsa-miR-3199	CLIP-seq
MIRT2247037	hsa-miR-4505	CLIP-seq
MIRT2247038	hsa-miR-4515	CLIP-seq
MIRT2247039	hsa-miR-4661-3p	CLIP-seq
MIRT2247040	hsa-miR-4764-5p	CLIP-seq
MIRT1062377	hsa-miR-485-5p	CLIP-seq
MIRT2247041	hsa-miR-520a-5p	CLIP-seq
MIRT2247042	hsa-miR-525-5p	CLIP-seq
MIRT2247043	hsa-miR-629	CLIP-seq
MIRT2550614	hsa-miR-1972	CLIP-seq
MIRT2550615	hsa-miR-4269	CLIP-seq
MIRT2550616	hsa-miR-4645-5p	CLIP-seq
MIRT2550617	hsa-miR-4673	CLIP-seq
MIRT2550618	hsa-miR-4755-3p	CLIP-seq
MIRT2682691	hsa-miR-1225-3p	CLIP-seq
MIRT2682692	hsa-miR-141	CLIP-seq
MIRT2682693	hsa-miR-200a	CLIP-seq
MIRT2682694	hsa-miR-3150b-3p	CLIP-seq
MIRT2682695	hsa-miR-4418	CLIP-seq
MIRT2682696	hsa-miR-4689	CLIP-seq
MIRT2682697	hsa-miR-4704-3p	CLIP-seq
MIRT2682698	hsa-miR-4710	CLIP-seq
MIRT2682699	hsa-miR-4716-3p	CLIP-seq
MIRT2682700	hsa-miR-4779	CLIP-seq
MIRT2682701	hsa-miR-4784	CLIP-seq
MIRT2682702	hsa-miR-4792	CLIP-seq
MIRT2682703	hsa-miR-509-3-5p	CLIP-seq
MIRT2682704	hsa-miR-509-5p	CLIP-seq
MIRT2682705	hsa-miR-513a-5p	CLIP-seq
MIRT2682706	hsa-miR-625	CLIP-seq
MIRT2682707	hsa-miR-765	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	IDA	19299493
GO:0000049	Function	TRNA binding	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IDA	19158098
GO:0003677	Function	DNA binding	IEA
GO:0003678	Function	DNA helicase activity	TAS	8349627
GO:0003697	Function	Single-stranded DNA binding	IDA	30218034
GO:0003697	Function	Single-stranded DNA binding	TAS	8349627, 8493094
GO:0003723	Function	RNA binding	IDA	19158098
GO:0003723	Function	RNA binding	IEA
GO:0003724	Function	RNA helicase activity	IEA
GO:0003727	Function	Single-stranded RNA binding	IDA	22965130
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	19299493
GO:0005524	Function	ATP binding	IDA	19158098
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	19299493
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	19299493
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0008094	Function	ATP-dependent activity, acting on DNA	IDA	19158098
GO:0008186	Function	ATP-dependent activity, acting on RNA	IDA	19158098
GO:0008270	Function	Zinc ion binding	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016604	Component	Nuclear body	IDA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IDA	22965130, 30218034
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030426	Component	Growth cone	ISS
GO:0032574	Function	5'-3' RNA helicase activity	IDA	19158098
GO:0036121	Function	Double-stranded DNA helicase activity	IDA	30218034
GO:0042802	Function	Identical protein binding	IPI	19299493
GO:0042995	Component	Cell projection	IEA
GO:0043022	Function	Ribosome binding	IDA	19158098
GO:0043139	Function	5'-3' DNA helicase activity	IBA
GO:0043139	Function	5'-3' DNA helicase activity	IDA	19158098
GO:0046872	Function	Metal ion binding	IEA
GO:0140296	Function	General transcription initiation factor binding	IPI	19299493
GO:1990904	Component	Ribonucleoprotein complex	IEA
GO:1990904	Component	Ribonucleoprotein complex	ISS

Other IDs

• MIM: 600502
• HGNC: 5542
• e!Ensembl: ENSG00000132740

Protein

• UniProt ID: P38935
• Protein name: DNA-binding protein SMUBP-2 (EC 3.6.4.12) (EC 3.6.4.13) (ATP-dependent helicase IGHMBP2) (Glial factor 1) (GF-1) (Immunoglobulin mu-binding protein 2)
• Protein function: 5' to 3' helicase that unwinds RNA and DNA duplexes in an ATP-dependent reaction (PubMed:19158098, PubMed:22999958, PubMed:30218034). Specific to 5'-phosphorylated single-stranded guanine-rich sequences (PubMed:22999958, PubMed:8349627). May pla
• PDB: 1MSZ, 2LRR, 4B3F, 4B3G
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13086	AAA_11	191 → 411	AAA domain	Domain
  PF13087	AAA_12	418 → 615	AAA domain	Domain
  PF01424	R3H	726 → 784	R3H domain	Domain
  PF01428	zf-AN1	897 → 937	AN1-like Zinc finger	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in all tissues examined. Expressed in the developing and adult human brain, with highest expression in the cerebellum. Moderately expressed in fibroblasts. {ECO:0000269|PubMed:25439726}.
• Sequence:

  MASAAVESFVTKQLDLLELERDAEVEERRSWQENISLKELQSRGVCLLKLQVSSQRTGLY
  GRLLVTFEPRRYGSAAALPSNSFTSGDIVGLYDAANEGSQLATGILTRVTQKSVTVAFDE
  SHDFQLSLDRENSYRLLKLANDVTYRRLKKALIALKKYHSGPASSLIEVLFGRSAPSPAS
  EIHPLTFFNTCLDTSQKEAVLFALSQKELAIIHGPPGTGKTTTVVEIILQAVKQGLKVLC
  CAPSNIAVDNLVERLALCKQRILRLGHPARLLESIQQHSLDAVLARSDSAQIVADIRKDI
  DQVFVKNKKTQDKREKSNFRNEIKLLRKELKEREEAAMLESLTSANVVLATNTGASADGP
  LKLLPESYFDVVVIDECAQALEASCWIPLLKARKCILAGDHKQLPPTTVSHKAALAGLSL
  SLMERLAEEYGARVVRTLTVQYRMHQAIMRWASDTMYLGQLTAHSSVARHLLRDLPGVAA
  TEETGVPLLLVDTAGCGLFELEEEDEQSKGNPGEVRLVSLHIQALVDAGVPARDIAVVSP
  YNLQVDLLRQSLVHRHPELEIKSVDGFQGREKEAVILSFVRSNRKGEVGFLAEDRRINVA
  VTRARRHVAVICDSRTVNNHAFLKTLVEYFTQHGEVRTAFEYLDDIVPENYSHENSQGSS
  HAATKPQGPATSTRTGSQRQEGGQEAAAPARQGRKKPAGKSLASEAPSQPSLNGGSPEGV
  ESQDGVDHFRAMIVEFMASKKMQLEFPPSLNSHDRLRVHQIAEEHGLRHDSSGEGKRRFI
  TVSKRAPRPRAALGPPAGTGGPAPLQPVPPTPAQTEQPPREQRGPDQPDLRTLHLERLQR
  VRSAQGQPASKEQQASGQQKLPEKKKKKAKGHPATDLPTEEDFEALVSAAVKADNTCGFA
  KCTAGVTTLGQFCQLCSRRYCLSHHLPEIHGCGERARAHARQRISREGVLYAGSGTKNGS
  LDPAKRAQLQRRLDKKLSELSNQRTSRRKERGT

• Sequence length: 993

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autosomal recessive distal spinal muscular atrophy 1	Likely pathogenic; Pathogenic	rs1483165002, rs1015531394, rs2154007211, rs1424522130, rs2154009273, rs2154008646, rs1178427226, rs2154006724, rs773543257, rs2154006948, rs2154008651, rs777570288, rs2154008712, rs2154008654, rs2495942854, rs372000714, rs724159994, rs1859531540, rs2495982356, rs797044802, rs797044803, rs2496034758, rs2495950095, rs863224880, rs863224881, rs886037759, rs746581714, rs780594709, rs1298787017, rs200089714, rs145226920, rs137852665, rs137852666, rs137852667, rs137852668, rs786205089, rs137852669, rs786205090, rs137852670, rs879253865, rs201060167, rs879253887, rs368775789, rs750024353, rs886043773, rs886043774, rs1177963598, rs767630646, rs1285416231, rs2496062221, rs767088664, rs564145037, rs2495950864, rs2495964905, rs774079947, rs1012702109, rs1858185076, rs2496034725, rs1859672389, rs2496076667, rs2496054182, rs2496070562, rs2496070621, rs2154008953, rs2496086694, rs2495982495, rs2495949807, rs2495994026, rs2496086381, rs1555243325, rs2495950893, rs2496034612, rs2495981397, rs2496065853, rs2496033440, rs2495952128, rs2496034507, rs2495930049, rs1057518588, rs773690764, rs1131691657, rs1555247732, rs777575504, rs991227431, rs773242930, rs1324667543, rs557416644, rs1202430946, rs1160978570, rs1000091588, rs770111639, rs1566424655, rs1566430156, rs1566443170, rs759641927, rs556292818, rs1566445029, rs1373247548, rs1249076926, rs372181708, rs1332319177, rs1479493690, rs972425138, rs779716706, rs1594427564, rs776730737, rs1594445698, rs1303837541, rs1594453111, rs1337346956, rs1240319744, rs750994603, rs199839840, rs754422011, rs1366461184, rs1594415353, rs1594427410, rs755468547, rs1311146809, rs1189538200, rs780692442, rs1225532037, rs1858438320, rs1124336	RCV001377632 RCV001389576 RCV001383330 RCV001530179 RCV002032700 RCV001837045 RCV001968794 RCV001912495 RCV002035238 RCV001879091 RCV001929258 RCV001891992 RCV002249080 RCV002267553 RCV002285091 RCV000550952 RCV000552806 RCV003078163 RCV002680749 RCV003765161 RCV001852432 RCV002711010 RCV002881604 RCV003765465 RCV002518403 RCV000240656 RCV000240663 RCV000240667 RCV003052120 RCV001059408 RCV000235082 RCV000235071 RCV001095539 RCV000535929 RCV000009685 RCV000009686 RCV000009687 RCV000009688 RCV000009689 RCV000235043 RCV000544728 RCV001244709 RCV001332102 RCV001859559 RCV000819925 RCV001218954 RCV003335903 RCV003778310 RCV003784265 RCV003781884 RCV003783580 RCV003789520 RCV003790012 RCV003795413 RCV003782585 RCV003785161 RCV003793983 RCV003806056 RCV003806758 RCV003791071 RCV003791302 RCV003805877 RCV003803758 RCV003801590 RCV003804102 RCV003803118 RCV003803316 RCV003797023 RCV003808457 RCV003800684 RCV003808913 RCV003817864 RCV003810076 RCV003807426 RCV003815213 RCV003810502 RCV003807259 RCV003990389 RCV004547195 RCV000754569 RCV003987526 RCV001332103 RCV000542958 RCV000541500 RCV000677234 RCV000642633 RCV000795152 RCV000806942 RCV000625148 RCV003767835 RCV000677267 RCV000642630 RCV000680011 RCV000705582 RCV000704215 RCV000692478 RCV000706919 RCV000695581 RCV000696268 RCV000695071 RCV000685957 RCV001383707 RCV000791593 RCV002536921 RCV001221389 RCV001869221 RCV003768476 RCV001856233 RCV001390624 RCV003768475 RCV000806743 RCV002535816 RCV004800584 RCV001376977 RCV000800244 RCV000985181 RCV001227491 RCV001390623 RCV001869234 RCV000793544 RCV000825531 RCV001038862 RCV001067255 RCV001036717 RCV001209897 RCV001204582 RCV001244728 RCV001227492 RCV001243549	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease	Likely pathogenic; Pathogenic	rs724159994, rs797044803, rs746581714, rs145226920, rs201060167, rs773690764, rs991227431, rs1000091588, rs1303837541, rs1594451999, rs199839840, rs1859177429	RCV000192260 RCV000192264 RCV000856966 RCV001172566 RCV001027460 RCV000789659 RCV000856975 RCV000856973 RCV000789974 RCV000789350 RCV000856977 RCV001173327	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease axonal type 2S	Likely pathogenic; Pathogenic	rs1483165002, rs1015531394, rs2154007211, rs1424522130, rs2154009273, rs2154008646, rs1178427226, rs2154006724, rs773543257, rs2154006948, rs2154008651, rs777570288, rs372000714, rs724159994, rs724159959, rs1859531540, rs2495982356, rs797044802, rs797044803, rs2496034758, rs2495950095, rs863224880, rs863224881, rs886037759, rs746581714, rs780594709, rs1298787017, rs200089714, rs145226920, rs137852665, rs137852666, rs137852667, rs137852668, rs786205089, rs137852669, rs786205090, rs753639706, rs201060167, rs879253887, rs368775789, rs750024353, rs886043773, rs886043774, rs1177963598, rs767630646, rs1285416231, rs2496062221, rs767088664, rs564145037, rs2495950864, rs2495964905, rs774079947, rs1012702109, rs1858185076, rs2496034725, rs1859672389, rs2496076667, rs2496054182, rs2496070562, rs2496070621, rs2154008953, rs2496086694, rs2495982495, rs2495949807, rs2495994026, rs2496086381, rs1555243325, rs2495950893, rs2496034612, rs2495981397, rs2496065853, rs2496033440, rs2495952128, rs1057518588, rs773690764, rs1131691657, rs1555247732, rs777575504, rs991227431, rs773242930, rs1324667543, rs557416644, rs1202430946, rs1000091588, rs770111639, rs1566424655, rs1566430156, rs1566443170, rs759641927, rs556292818, rs1566445029, rs1373247548, rs1249076926, rs372181708, rs1566439723, rs1332319177, rs1479493690, rs972425138, rs779716706, rs1594427564, rs776730737, rs1594445698, rs1303837541, rs1594453111, rs1240319744, rs750994603, rs199839840, rs754422011, rs1366461184, rs1594415353, rs755468547, rs1311146809, rs1189538200, rs780692442, rs1225532037, rs1858438320, rs1124336	RCV001377632 RCV001389576 RCV001383330 RCV003771640 RCV002051592 RCV001837045 RCV001968794 RCV001912495 RCV002035238 RCV001879091 RCV001929258 RCV001891992 RCV000149574 RCV000149575 RCV000149577 RCV003078163 RCV002680749 RCV000240669 RCV001852432 RCV002711010 RCV002881604 RCV003765465 RCV002518403 RCV000810966 RCV000240655 RCV000240662 RCV003052120 RCV001059408 RCV000539394 RCV004799738 RCV000664227 RCV000535929 RCV003764542 RCV002288478 RCV001807723 RCV000528403 RCV003152883 RCV000544728 RCV001244709 RCV003765468 RCV001859559 RCV000819925 RCV001218954 RCV003777431 RCV003778310 RCV003784265 RCV003781884 RCV003783580 RCV003789520 RCV003790012 RCV003795413 RCV003782585 RCV003785161 RCV003793983 RCV003806056 RCV003806758 RCV003791071 RCV003791302 RCV003805877 RCV003803758 RCV003801590 RCV003804102 RCV003803118 RCV003803316 RCV003797023 RCV003808457 RCV003800684 RCV003808913 RCV003817864 RCV003810076 RCV003807426 RCV003815213 RCV003810502 RCV003807259 RCV000642629 RCV002521458 RCV005010410 RCV000542958 RCV000541500 RCV000642633 RCV000795152 RCV000806942 RCV003767833 RCV000626052 RCV000642630 RCV001218953 RCV000705582 RCV000704215 RCV000692478 RCV000706919 RCV000695581 RCV000696268 RCV000695071 RCV000685957 RCV001383707 RCV000791593 RCV000768428 RCV002536921 RCV001221389 RCV001869221 RCV003768476 RCV001856233 RCV001390624 RCV003768475 RCV000806743 RCV002535816 RCV001376977 RCV000800244 RCV001869220 RCV001227491 RCV001390623 RCV001869234 RCV000793544 RCV001038862 RCV001067255 RCV001036717 RCV001209897 RCV001204582 RCV001244728 RCV001227492 RCV001243549	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Difficulty walking	Likely pathogenic; Pathogenic	rs773690764	RCV000415032	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Distal spinal muscular atrophy	Pathogenic; Likely pathogenic	rs372000714, rs724159994, rs200089714, rs201060167, rs991227431, rs557416644, rs1000091588, rs770111639, rs759641927, rs372181708, rs1332319177, rs1479493690, rs779716706, rs776730737, rs750994603, rs1366461184	RCV000790277 RCV000664248 RCV000221711 RCV000790269 RCV000790272 RCV000789658 RCV000790274 RCV000790283 RCV000790271 RCV000826144 RCV000790273 RCV000790281 RCV000789654 RCV000789645 RCV000790284 RCV000790268	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hammertoe	Likely pathogenic; Pathogenic	rs773690764	RCV000415032	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
IGHMBP2-related disorder	Pathogenic; Likely pathogenic	rs773543257, rs746581714, rs200089714, rs145226920, rs767630646, rs797044802	RCV004741165 RCV003335195 RCV003335233 RCV004739623 RCV004552598 RCV004740380	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Inability to walk	Likely pathogenic; Pathogenic	rs773690764	RCV000415032	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lower limb muscle weakness	Likely pathogenic; Pathogenic	rs773690764	RCV000415032	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs2154008611, rs145226920	RCV002277709 RCV002277579	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuronopathy, distal hereditary motor, autosomal dominant	Likely pathogenic; Pathogenic	rs797044802, rs746581714, rs780594709, rs786205090, rs1324667543, rs372181708, rs972425138, rs1594427564, rs1594445698, rs1594453111, rs1337346956, rs1240319744, rs199839840, rs754422011, rs774079947	RCV000789355 RCV000789980 RCV000789340 RCV000789975 RCV000789338 RCV000789344 RCV000789337 RCV000789347 RCV000789339 RCV000790330 RCV000789345 RCV000789679 RCV000789336 RCV000789354 RCV000789346	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neuronopathy, distal hereditary motor, autosomal dominant 1	Likely pathogenic; Pathogenic	rs1566443170	RCV001813800	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peripheral neuropathy	Pathogenic; Likely pathogenic	rs372000714, rs137852667	RCV001814070 RCV001813969	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive muscle weakness	Likely pathogenic; Pathogenic	rs773690764	RCV000415032	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinal muscular atrophy	Likely pathogenic; Pathogenic	rs972425138, rs1858067021	RCV001267649 RCV001267659	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT DISTAL HEREDITARY MOTOR NEUROPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant intermediate Charcot-Marie-Tooth disease	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEPHAROPTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE TYPE 2S	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease type 4	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, type I	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC PERIPHERAL NEUROPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOTOR NEURON DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 4	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 1	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuronopathy, distal hereditary motor, type 2C	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anterior Horn Cell Disease	Anterior Horn Cell Disease	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Autonomic Nervous System Diseases	Autonomic nervous system disease	Pubtator	30385095	Associate	★☆☆☆☆ Found in Text Mining only
Autonomic nervous system disorders	Autonomic Central Nervous System Diseases	BEFREE	30385095		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	16752224		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	28202949, 30409445, 31020813		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 2S	Charcot-Marie-Tooth Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S	Charcot-Marie-Tooth Disease	CLINVAR_DG	11528396, 14506069, 14681881, 15269181, 15503272, 16765827, 17431882, 18802676, 19157874, 19158098, 22157136, 234316, 24388491, 25439726, 25454169, 25568292, 26257172, 26392352, 26709713, 27450922, 28202949		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S	Charcot-Marie-Tooth Disease	UNIPROT_DG	25439726		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S	Charcot-Marie-Tooth Disease	ORPHANET_DG	25439726		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S	Charcot-Marie-Tooth Disease	GENOMICS_ENGLAND_DG	26392352		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S	Charcot-Marie-Tooth Disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital myopathy (disorder)	Congenital myopathy	BEFREE	17236770		★☆☆☆☆ Found in Text Mining only
Diaphragmatic Eventration	Diaphragmatic Eventration	BEFREE	17431882		★☆☆☆☆ Found in Text Mining only
Diaphragmatic Eventration	Diaphragmatic Eventration	HPO_DG			★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Distal Spinal Muscular Atrophy	Distal Spinal Muscular Atrophy	BEFREE	12112104, 25248952		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Distal Spinal Muscular Atrophy	Distal Spinal Muscular Atrophy	CLINVAR_DG	14506069, 24388491		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dysautonomia	Dysautonomia	BEFREE	30385095		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	35611426	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	30385095	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory-Neuropathy Type II	Dysautonomia	BEFREE	25439726, 28065684		★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Motor Neuropathy	Hereditary sensory and motor neuropathy	Pubtator	25439726	Associate	★☆☆☆☆ Found in Text Mining only
HMN (Hereditary Motor Neuropathy) Proximal Type I	Hereditary Motor Neuropathy	BEFREE	16765827, 22099258, 22157136, 25248952, 29653221		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	15599641, 20031928		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	LHGDN	15599641		★☆☆☆☆ Found in Text Mining only
Inherited Peripheral Neuropathy	Inherited Peripheral Neuropathy	BEFREE	31020813		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16752224		★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine with Aura	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	19299493, 30863264		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	15269181, 24647030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	27450922	Associate	★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	20859832		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	17236770		★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	32154989, 38368610	Associate	★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	14506069, 22791546, 25568292		★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	35611426	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	26556829, 30385095	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	30385095		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	30385095		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polyneuropathies	Polyneuropathy	Pubtator	27450922	Associate	★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	22791546, 26298607, 27450922		★☆☆☆☆ Found in Text Mining only
Polyneuropathy, Motor	Polyneuropathy	BEFREE	22791546		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	15108294, 17431882, 24647030, 26922252		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	CLINVAR_DG	27450922		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	BEFREE	22099258		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	26556829	Associate	★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophies of Childhood	Spinal muscular atrophy	Pubtator	26709713	Associate	★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	11528396, 18298318, 25248952		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinal Muscular Atrophy	Spinal Muscular Atrophy	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1	SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS	BEFREE	11528396, 12112104, 14681881, 15248100, 15269181, 15290238, 15797190, 16765827, 16964485, 17431882, 18263757, 18802676, 19157874, 19299493, 21353777, 22099258, 22157136, 22965130, 23449687, 24388491, 24647030, 25248952, 25280635, 25439726, 25454169, 26298607, 26860981, 27450922, 28065684, 28202949, 29653221, 29928949, 30385095, 30409445, 30863264, 31604525, 31802621		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1	SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS	ORPHANET_DG	11528396		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1	SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS	CLINVAR_DG	11528396, 14506069, 14681881, 15269181, 15503272, 16765827, 17431882, 18802676, 19157874, 19158098, 22157136, 234316, 24388491, 25439726, 25454169, 25568292, 26257172, 26392352, 26709713, 27450922, 28202949		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1	SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS	GENOMICS_ENGLAND_DG	11528396, 15290238, 26392352		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1	SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS	UNIPROT_DG	11528396, 14681881, 15108294, 15290238, 17431882, 18802676, 19158098		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinal muscular atrophy with respiratory distress 1	Spinal muscular atrophy	Pubtator	21353777, 22965130, 25439726, 26709713, 27450922, 30385095, 30863264, 35611426, 36077311, 38368610, 39202358	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1	SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinal muscular atrophy with respiratory distress type 1	Spinal Muscular Atrophy With Respiratory Distress	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitamin D Deficiency	Vitamin D Deficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only