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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6609
Gene name	Sphingomyelin phosphodiesterase 1
Gene symbol	SMPD1
Synonyms (NCBI Gene)	ASMASMASENPD
Chromosome	11
Chromosome location	11p15.4
Summary	The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick di

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1803161	G>A,C	Pathogenic, uncertain-significance	Intron variant, missense variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs120074117	G>A,C,T	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs120074118	GCC>-	Pathogenic	Coding sequence variant, non coding transcript variant, inframe deletion, 3 prime UTR variant
rs120074119	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 3 prime UTR variant
rs120074120	T>A	Pathogenic	Coding sequence variant, intron variant, 5 prime UTR variant, stop gained, non coding transcript variant
rs120074121	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs120074122	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, intron variant, 5 prime UTR variant, stop gained, missense variant, non coding transcript variant
rs120074123	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs120074124	T>C	Pathogenic	Coding sequence variant, intron variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs120074125	T>G	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs120074126	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs120074127	C>G,T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, missense variant
rs120074128	C>A	Pathogenic	Coding sequence variant, intron variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs141387770	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs142787001	A>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant, 3 prime UTR variant
rs143939609	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, intron variant, 5 prime UTR variant, non coding transcript variant
rs144873307	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs148067213	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, synonymous variant, coding sequence variant, non coding transcript variant
rs148944108	G>A	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, intron variant, synonymous variant, coding sequence variant, non coding transcript variant
rs182812968	C>T	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs199915216	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant, 3 prime UTR variant
rs200652683	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant, 3 prime UTR variant
rs200763423	G>A,C,T	Pathogenic, likely-pathogenic	Intron variant, 5 prime UTR variant, non coding transcript variant, missense variant, stop gained, coding sequence variant
rs201550531	G>C,T	Pathogenic	Intron variant, non coding transcript variant, missense variant, stop gained, coding sequence variant, synonymous variant
rs201659696	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant, 3 prime UTR variant
rs202081954	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, intron variant, missense variant
rs202206564	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs202244080	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, 5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant
rs267607073	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs267607074	A>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs267607075	C>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs281860663	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs281860665	T>A,G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs281860677	->TCCCCGCA	Pathogenic	Intron variant, frameshift variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs369787650	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant, 3 prime UTR variant
rs370048730	C>T	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, synonymous variant, coding sequence variant, non coding transcript variant
rs370129081	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, 3 prime UTR variant
rs371837210	A>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant, 3 prime UTR variant
rs372287825	A>G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs373940701	C>A,T	Likely-pathogenic	Missense variant, stop gained, 3 prime UTR variant, non coding transcript variant, coding sequence variant
rs374604948	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, synonymous variant, intron variant
rs387906289	C>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs398123474	G>C	Pathogenic-likely-pathogenic, pathogenic	Splice acceptor variant, intron variant
rs398123475	T>G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs398123476	CT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs398123478	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant, 3 prime UTR variant
rs398123479	G>C	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, intron variant
rs528939343	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant, non coding transcript variant
rs555187617	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant, missense variant, non coding transcript variant
rs559088058	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs575601110	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, synonymous variant, non coding transcript variant
rs587779408	G>A	Pathogenic, likely-pathogenic	Intron variant, 5 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant
rs727504165	C>-	Pathogenic, likely-pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, frameshift variant
rs727504166	T>C	Pathogenic, likely-pathogenic	Intron variant, 5 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant
rs727504167	T>-	Pathogenic	Intron variant, 5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant
rs747143343	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs747342458	G>A,C	Pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, missense variant, 3 prime UTR variant
rs748165078	C>-,CC	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant, 5 prime UTR variant
rs748411156	AT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs749780769	T>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, intron variant, 5 prime UTR variant, missense variant
rs750157176	C>-,CC	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs750187574	A>C,G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, intron variant, 5 prime UTR variant, synonymous variant, missense variant
rs750779804	A>C	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, 5 prime UTR variant, missense variant
rs751269562	T>C	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs752148586	G>A,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, 5 prime UTR variant, missense variant
rs753508874	C>A,T	Pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs755160837	C>G,T	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant, stop gained
rs755182589	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant, non coding transcript variant
rs756031857	G>T	Likely-pathogenic	3 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant
rs756366019	C>-,CC	Pathogenic	Frameshift variant, intron variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs759389193	GT>-	Pathogenic	3 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs761308217	C>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs763566905	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs769904764	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, missense variant
rs770962157	A>-	Pathogenic	3 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant
rs771336819	T>A,C	Uncertain-significance, pathogenic	Non coding transcript variant, synonymous variant, stop gained, missense variant, coding sequence variant
rs779528546	T>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs781535659	->C	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, intron variant
rs786204506	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs786204514	CT>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, intron variant
rs786204694	TT>-	Pathogenic-likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, intron variant
rs786204733	->T	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, intron variant
rs794727252	TGTTGAGTGGGCTGGGCCCAGCC>-	Pathogenic, likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, intron variant
rs794727629	A>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs797044797	T>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs797044798	G>C	Pathogenic	Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, intron variant
rs797044799	C>A,G	Pathogenic	Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, intron variant
rs797044800	C>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs868423827	C>T	Pathogenic-likely-pathogenic, likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs875989832	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, intron variant
rs875989833	->T	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, intron variant
rs875989834	CCGTGTGTACCAA>-	Pathogenic	Stop gained, frameshift variant, non coding transcript variant, coding sequence variant
rs875989835	->C	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, intron variant
rs875989836	T>C	Pathogenic	Missense variant, non coding transcript variant, 3 prime UTR variant, coding sequence variant
rs875989837	G>A	Pathogenic, not-provided	Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, intron variant
rs886043098	G>-	Pathogenic, likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs889113421	C>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, synonymous variant
rs943924098	C>G	Likely-pathogenic	3 prime UTR variant, stop gained, non coding transcript variant, coding sequence variant
rs989639224	C>A,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, intron variant, 5 prime UTR variant
rs1018556947	->C	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant, intron variant
rs1057516403	TT>-	Pathogenic, likely-pathogenic	Non coding transcript variant, 3 prime UTR variant, coding sequence variant, frameshift variant
rs1057516432	TC>-	Pathogenic-likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, frameshift variant
rs1057516454	G>A,C,T	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Splice acceptor variant
rs1057516722	G>A	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, stop gained, coding sequence variant
rs1057516854	G>A,T	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Non coding transcript variant, splice acceptor variant
rs1057516931	C>T	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, stop gained, coding sequence variant
rs1057516949	GACT>-	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1057517086	TT>-	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, stop gained, coding sequence variant
rs1057517098	T>-	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1057517195	C>T	Pathogenic	Intron variant, non coding transcript variant, missense variant, 5 prime UTR variant, coding sequence variant
rs1057517200	GT>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057517345	CC>G	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, frameshift variant
rs1057517390	TCTG>-	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1057517826	T>G	Likely-pathogenic	Non coding transcript variant, 3 prime UTR variant, coding sequence variant, missense variant
rs1064795484	G>T	Likely-pathogenic	Intron variant, non coding transcript variant, stop gained, 5 prime UTR variant, coding sequence variant
rs1205990349	C>T	Likely-pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, non coding transcript variant
rs1225462507	T>A,C	Likely-pathogenic	Splice donor variant
rs1342372980	C>G,T	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, missense variant
rs1422720020	->G	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant, non coding transcript variant
rs1423504237	C>A,T	Likely-pathogenic	Intron variant, coding sequence variant, synonymous variant, missense variant, non coding transcript variant, 5 prime UTR variant
rs1428487333	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs1437508852	CT>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, 3 prime UTR variant, coding sequence variant
rs1470998208	G>A	Likely-pathogenic	Stop gained, intron variant, non coding transcript variant, coding sequence variant, missense variant
rs1554933746	A>-	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, frameshift variant, 5 prime UTR variant
rs1554933751	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs1554933780	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs1554934193	G>A	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant
rs1554934210	G>-	Likely-pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant
rs1554934212	G>A	Likely-pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant
rs1554934241	->T	Pathogenic	5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant, frameshift variant
rs1554934309	TCCTCACTGACCTGCACTGGGATCATGACTACCT>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant, frameshift variant
rs1554934406	G>T	Likely-pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant
rs1554935136	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1554935254	->TTCTGGCCAGGTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACTCATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGC	Likely-pathogenic	Coding sequence variant, non coding transcript variant, splice acceptor variant, intron variant
rs1554935273	G>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554935285	C>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554935439	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, stop gained
rs1554935555	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 3 prime UTR variant
rs1554935600	C>AA	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, 3 prime UTR variant
rs1554935610	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, 3 prime UTR variant
rs1554935746	C>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, 3 prime UTR variant
rs1564927308	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, 3 prime UTR variant
rs1590735238	->G	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1590735307	TGCTGGCGCT>CGC	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1590739350	G>A	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant, intron variant
rs1590743683	->G	Pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT648380	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT648379	hsa-miR-3691-3p	HITS-CLIP	23824327
MIRT648378	hsa-miR-1289	HITS-CLIP	23824327
MIRT648377	hsa-miR-4294	HITS-CLIP	23824327
MIRT648376	hsa-miR-516b-5p	HITS-CLIP	23824327
MIRT648375	hsa-miR-3198	HITS-CLIP	23824327
MIRT648374	hsa-miR-4309	HITS-CLIP	23824327
MIRT648373	hsa-miR-302c-5p	HITS-CLIP	23824327
MIRT648372	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT648380	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT648379	hsa-miR-3691-3p	HITS-CLIP	23824327
MIRT648378	hsa-miR-1289	HITS-CLIP	23824327
MIRT648377	hsa-miR-4294	HITS-CLIP	23824327
MIRT648376	hsa-miR-516b-5p	HITS-CLIP	23824327
MIRT648375	hsa-miR-3198	HITS-CLIP	23824327
MIRT648374	hsa-miR-4309	HITS-CLIP	23824327
MIRT648373	hsa-miR-302c-5p	HITS-CLIP	23824327
MIRT648372	hsa-miR-552-5p	HITS-CLIP	23824327
MIRT1373819	hsa-miR-103a	CLIP-seq
MIRT1373820	hsa-miR-107	CLIP-seq
MIRT1373821	hsa-miR-15a	CLIP-seq
MIRT1373822	hsa-miR-15b	CLIP-seq
MIRT1373823	hsa-miR-16	CLIP-seq
MIRT1373824	hsa-miR-195	CLIP-seq
MIRT1373825	hsa-miR-424	CLIP-seq
MIRT1373826	hsa-miR-4463	CLIP-seq
MIRT1373827	hsa-miR-4494	CLIP-seq
MIRT1373828	hsa-miR-4711-5p	CLIP-seq
MIRT1373829	hsa-miR-497	CLIP-seq
MIRT1373830	hsa-miR-885-3p	CLIP-seq
MIRT1373819	hsa-miR-103a	CLIP-seq
MIRT1373820	hsa-miR-107	CLIP-seq
MIRT1373831	hsa-miR-140-3p	CLIP-seq
MIRT1373821	hsa-miR-15a	CLIP-seq
MIRT1373822	hsa-miR-15b	CLIP-seq
MIRT1373823	hsa-miR-16	CLIP-seq
MIRT1373824	hsa-miR-195	CLIP-seq
MIRT1373825	hsa-miR-424	CLIP-seq
MIRT1373832	hsa-miR-4310	CLIP-seq
MIRT1373829	hsa-miR-497	CLIP-seq
MIRT1373833	hsa-miR-563	CLIP-seq
MIRT1373819	hsa-miR-103a	CLIP-seq
MIRT1373820	hsa-miR-107	CLIP-seq
MIRT2111309	hsa-miR-1273	CLIP-seq
MIRT2111310	hsa-miR-1285	CLIP-seq
MIRT2111311	hsa-miR-1343	CLIP-seq
MIRT1373821	hsa-miR-15a	CLIP-seq
MIRT1373822	hsa-miR-15b	CLIP-seq
MIRT1373823	hsa-miR-16	CLIP-seq
MIRT1373824	hsa-miR-195	CLIP-seq
MIRT2111312	hsa-miR-3064-5p	CLIP-seq
MIRT2111313	hsa-miR-3180	CLIP-seq
MIRT2111314	hsa-miR-3180-3p	CLIP-seq
MIRT2111315	hsa-miR-3187-5p	CLIP-seq
MIRT2111316	hsa-miR-3196	CLIP-seq
MIRT2111317	hsa-miR-3652	CLIP-seq
MIRT1373825	hsa-miR-424	CLIP-seq
MIRT2111318	hsa-miR-4430	CLIP-seq
MIRT2111319	hsa-miR-4505	CLIP-seq
MIRT2111320	hsa-miR-4650-5p	CLIP-seq
MIRT1373829	hsa-miR-497	CLIP-seq
MIRT2111321	hsa-miR-612	CLIP-seq
MIRT2111322	hsa-miR-661	CLIP-seq
MIRT1373819	hsa-miR-103a	CLIP-seq
MIRT1373820	hsa-miR-107	CLIP-seq
MIRT2334439	hsa-miR-1231	CLIP-seq
MIRT2111309	hsa-miR-1273	CLIP-seq
MIRT2111310	hsa-miR-1285	CLIP-seq
MIRT2111311	hsa-miR-1343	CLIP-seq
MIRT1373821	hsa-miR-15a	CLIP-seq
MIRT1373822	hsa-miR-15b	CLIP-seq
MIRT1373823	hsa-miR-16	CLIP-seq
MIRT1373824	hsa-miR-195	CLIP-seq
MIRT2111312	hsa-miR-3064-5p	CLIP-seq
MIRT2111313	hsa-miR-3180	CLIP-seq
MIRT2111314	hsa-miR-3180-3p	CLIP-seq
MIRT2111315	hsa-miR-3187-5p	CLIP-seq
MIRT2111316	hsa-miR-3196	CLIP-seq
MIRT2334440	hsa-miR-346	CLIP-seq
MIRT2111317	hsa-miR-3652	CLIP-seq
MIRT2334441	hsa-miR-3655	CLIP-seq
MIRT1373825	hsa-miR-424	CLIP-seq
MIRT2334442	hsa-miR-4288	CLIP-seq
MIRT2334443	hsa-miR-431	CLIP-seq
MIRT2334444	hsa-miR-4421	CLIP-seq
MIRT2111318	hsa-miR-4430	CLIP-seq
MIRT2111319	hsa-miR-4505	CLIP-seq
MIRT1373828	hsa-miR-4711-5p	CLIP-seq
MIRT1373829	hsa-miR-497	CLIP-seq
MIRT2334445	hsa-miR-499-3p	CLIP-seq
MIRT2334446	hsa-miR-499a-3p	CLIP-seq
MIRT2111321	hsa-miR-612	CLIP-seq
MIRT2334447	hsa-miR-632	CLIP-seq
MIRT2111322	hsa-miR-661	CLIP-seq
MIRT1373819	hsa-miR-103a	CLIP-seq
MIRT1373820	hsa-miR-107	CLIP-seq
MIRT2111311	hsa-miR-1343	CLIP-seq
MIRT1373821	hsa-miR-15a	CLIP-seq
MIRT1373822	hsa-miR-15b	CLIP-seq
MIRT1373823	hsa-miR-16	CLIP-seq
MIRT1373824	hsa-miR-195	CLIP-seq
MIRT2111312	hsa-miR-3064-5p	CLIP-seq
MIRT2111317	hsa-miR-3652	CLIP-seq
MIRT1373825	hsa-miR-424	CLIP-seq
MIRT2111318	hsa-miR-4430	CLIP-seq
MIRT2111319	hsa-miR-4505	CLIP-seq
MIRT1373828	hsa-miR-4711-5p	CLIP-seq
MIRT1373829	hsa-miR-497	CLIP-seq
MIRT1373830	hsa-miR-885-3p	CLIP-seq
MIRT1373819	hsa-miR-103a	CLIP-seq
MIRT1373820	hsa-miR-107	CLIP-seq
MIRT2334439	hsa-miR-1231	CLIP-seq
MIRT2111309	hsa-miR-1273	CLIP-seq
MIRT2111310	hsa-miR-1285	CLIP-seq
MIRT2111311	hsa-miR-1343	CLIP-seq
MIRT1373821	hsa-miR-15a	CLIP-seq
MIRT1373822	hsa-miR-15b	CLIP-seq
MIRT1373823	hsa-miR-16	CLIP-seq
MIRT2628468	hsa-miR-1913	CLIP-seq
MIRT2628469	hsa-miR-1915	CLIP-seq
MIRT1373824	hsa-miR-195	CLIP-seq
MIRT2111312	hsa-miR-3064-5p	CLIP-seq
MIRT2111313	hsa-miR-3180	CLIP-seq
MIRT2111314	hsa-miR-3180-3p	CLIP-seq
MIRT2111315	hsa-miR-3187-5p	CLIP-seq
MIRT2111316	hsa-miR-3196	CLIP-seq
MIRT2628470	hsa-miR-324-3p	CLIP-seq
MIRT2334440	hsa-miR-346	CLIP-seq
MIRT2628471	hsa-miR-34a	CLIP-seq
MIRT2628472	hsa-miR-34c-5p	CLIP-seq
MIRT2111317	hsa-miR-3652	CLIP-seq
MIRT2334441	hsa-miR-3655	CLIP-seq
MIRT1373825	hsa-miR-424	CLIP-seq
MIRT2334442	hsa-miR-4288	CLIP-seq
MIRT2334443	hsa-miR-431	CLIP-seq
MIRT2334444	hsa-miR-4421	CLIP-seq
MIRT2111318	hsa-miR-4430	CLIP-seq
MIRT2628473	hsa-miR-4436b-3p	CLIP-seq
MIRT2628474	hsa-miR-449a	CLIP-seq
MIRT2628475	hsa-miR-449b	CLIP-seq
MIRT2111319	hsa-miR-4505	CLIP-seq
MIRT2111320	hsa-miR-4650-5p	CLIP-seq
MIRT2628476	hsa-miR-4685-5p	CLIP-seq
MIRT1373828	hsa-miR-4711-5p	CLIP-seq
MIRT1373829	hsa-miR-497	CLIP-seq
MIRT2111321	hsa-miR-612	CLIP-seq
MIRT2334447	hsa-miR-632	CLIP-seq
MIRT2111322	hsa-miR-661	CLIP-seq
MIRT1373830	hsa-miR-885-3p	CLIP-seq
MIRT1373819	hsa-miR-103a	CLIP-seq
MIRT1373820	hsa-miR-107	CLIP-seq
MIRT2334439	hsa-miR-1231	CLIP-seq
MIRT2111309	hsa-miR-1273	CLIP-seq
MIRT2111310	hsa-miR-1285	CLIP-seq
MIRT2111311	hsa-miR-1343	CLIP-seq
MIRT1373821	hsa-miR-15a	CLIP-seq
MIRT1373822	hsa-miR-15b	CLIP-seq
MIRT1373823	hsa-miR-16	CLIP-seq
MIRT1373824	hsa-miR-195	CLIP-seq
MIRT2111312	hsa-miR-3064-5p	CLIP-seq
MIRT2111313	hsa-miR-3180	CLIP-seq
MIRT2111314	hsa-miR-3180-3p	CLIP-seq
MIRT2111315	hsa-miR-3187-5p	CLIP-seq
MIRT2111316	hsa-miR-3196	CLIP-seq
MIRT2334440	hsa-miR-346	CLIP-seq
MIRT2111317	hsa-miR-3652	CLIP-seq
MIRT2334441	hsa-miR-3655	CLIP-seq
MIRT1373825	hsa-miR-424	CLIP-seq
MIRT2334442	hsa-miR-4288	CLIP-seq
MIRT2334443	hsa-miR-431	CLIP-seq
MIRT2334444	hsa-miR-4421	CLIP-seq
MIRT2111318	hsa-miR-4430	CLIP-seq
MIRT2111319	hsa-miR-4505	CLIP-seq
MIRT2111320	hsa-miR-4650-5p	CLIP-seq
MIRT1373828	hsa-miR-4711-5p	CLIP-seq
MIRT1373829	hsa-miR-497	CLIP-seq
MIRT2111321	hsa-miR-612	CLIP-seq
MIRT2334447	hsa-miR-632	CLIP-seq
MIRT2111322	hsa-miR-661	CLIP-seq
MIRT1373830	hsa-miR-885-3p	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
SP1	Activation	10224156

Show/Hide all (69)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001778	Process	Plasma membrane repair	IDA	20530211
GO:0001778	Process	Plasma membrane repair	IEA
GO:0004767	Function	Sphingomyelin phosphodiesterase activity	IDA	9660788, 21098024, 22573858, 33163980
GO:0004767	Function	Sphingomyelin phosphodiesterase activity	IEA
GO:0004767	Function	Sphingomyelin phosphodiesterase activity	TAS	1718266
GO:0005515	Function	Protein binding	IPI	16787399, 21157428
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	33163980
GO:0005615	Component	Extracellular space	IDA	8702487, 9660788, 16787399, 17303575, 20530211, 20807762, 21098024, 22573858, 27659707
GO:0005615	Component	Extracellular space	IEA
GO:0005764	Component	Lysosome	IBA
GO:0005764	Component	Lysosome	IDA	33163980
GO:0005764	Component	Lysosome	IDA	9660788, 16787399, 18815062, 20530211, 20807762, 20956541, 21098024, 27659707
GO:0005764	Component	Lysosome	IEA
GO:0005768	Component	Endosome	IDA	20956541
GO:0005811	Component	Lipid droplet	IEA
GO:0005886	Component	Plasma membrane	IDA	20956541
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006672	Process	Ceramide metabolic process	IEA
GO:0006684	Process	Sphingomyelin metabolic process	TAS	7670466
GO:0006685	Process	Sphingomyelin catabolic process	IBA
GO:0006685	Process	Sphingomyelin catabolic process	IDA	18815062, 20807762, 22573858
GO:0006685	Process	Sphingomyelin catabolic process	IEA
GO:0006685	Process	Sphingomyelin catabolic process	IEA
GO:0007165	Process	Signal transduction	TAS	7670466
GO:0007399	Process	Nervous system development	TAS	7670466
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008270	Function	Zinc ion binding	IDA	8702487, 9660788
GO:0008270	Function	Zinc ion binding	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009615	Process	Response to virus	IDA	22573858
GO:0010212	Process	Response to ionizing radiation	IEA
GO:0010212	Process	Response to ionizing radiation	IMP	8706124
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0023021	Process	Termination of signal transduction	IMP	19279008
GO:0033344	Process	Cholesterol efflux	IDA	25339683
GO:0034340	Process	Response to type I interferon	IDA	20807762
GO:0034480	Function	Phosphatidylcholine phospholipase C activity	IEA
GO:0034612	Process	Response to tumor necrosis factor	IDA	20807762
GO:0034644	Process	Cellular response to UV	IDA	17303575
GO:0036019	Component	Endolysosome	IDA	17303575
GO:0042060	Process	Wound healing	IDA	20530211
GO:0042220	Process	Response to cocaine	IEA
GO:0042599	Component	Lamellar body	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IMP	8706124
GO:0043202	Component	Lysosomal lumen	TAS
GO:0043409	Process	Negative regulation of MAPK cascade	IMP	19279008
GO:0045807	Process	Positive regulation of endocytosis	IDA	20530211
GO:0046479	Process	Glycosphingolipid catabolic process	TAS
GO:0046513	Process	Ceramide biosynthetic process	IBA
GO:0046513	Process	Ceramide biosynthetic process	IDA	33163980
GO:0046513	Process	Ceramide biosynthetic process	IDA	17303575, 18815062, 20807762, 33163980
GO:0046513	Process	Ceramide biosynthetic process	IEA
GO:0046513	Process	Ceramide biosynthetic process	IMP	8706124, 19279011
GO:0046598	Process	Positive regulation of viral entry into host cell	IDA	33163980
GO:0046718	Process	Symbiont entry into host cell	IDA	33163980
GO:0046718	Process	Symbiont entry into host cell	IDA	33163980
GO:0046718	Process	Symbiont entry into host cell	IDA	22573858
GO:0046872	Function	Metal ion binding	IEA
GO:0061750	Function	Acid sphingomyelin phosphodiesterase activity	IBA
GO:0061750	Function	Acid sphingomyelin phosphodiesterase activity	IDA	8702487, 17303575, 18815062, 20807762
GO:0061750	Function	Acid sphingomyelin phosphodiesterase activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070269	Process	Pyroptotic inflammatory response	IDA	33883744
GO:0070555	Process	Response to interleukin-1	IDA	20807762
GO:0071277	Process	Cellular response to calcium ion	IDA	20530211

MIM	HGNC	e!Ensembl
607608	11120	ENSG00000166311

P17405

Protein name

Sphingomyelin phosphodiesterase (EC 3.1.4.12) (EC 3.1.4.3) (Acid sphingomyelinase) (aSMase) [Cleaved into: Sphingomyelin phosphodiesterase, processed form]

Protein function

Converts sphingomyelin to ceramide (PubMed:12563314, PubMed:1840600, PubMed:18815062, PubMed:25339683, PubMed:25920558, PubMed:27659707, PubMed:33163980). Exists as two enzymatic forms that arise from alternative trafficking of a single protein

PDB

5I81 , 5I85 , 5I8R , 5JG8

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00149	Metallophos	201 → 463	Calcineurin-like phosphoesterase	Domain

Sequence

MPRYGASLRQSCPRSGREQGQDGTAGAPGLLWMGLVLALALALALALALSDSRVLWAPAE
AHPLSPQGHPARLHRIVPRLRDVFGWGNLTCPICKGLFTAINLGLKKEPNVARVGSVAIK
LCNLLKIAPPAVCQSIVHLFEDDMVEVWRRSVLSPSEACGLLLGSTCGHWDIFSSWNISL
PTVPKPPPKPPSPPAPGAPVSRILFLTDLHWDHDYLEGTDPDCADPLCCRRGSGLPPASR
PGAGYWGEYSKCDLPLRTLESLLSGLGPAGPFDMVYWTGDIPAHDVWHQTRQDQLRALTT
VTALVRKFLGPVPVYPAVGNHESTPVNSFPPPFIEGNHSSRWLYEAMAKAWEPWLPAEAL
RTLRIGGFYALSPYPGLRLISLNMNFCSRENFWLLINSTDPAGQLQWLVGELQAAEDRGD
KVHIIGHIPPGHCLKSWSWNYYRIVARYENTLAAQFFGHTHVDEFEVFYDEETLSRPLAV
AFLAPSATTYIGLNPGYRVYQIDGNYSGSSHVVLDHETYILNLTQANIPGAIPHWQLLYR
ARETYGLPNTLPTAWHNLVYRMRGDMQLFQTFWFLYHKGHPPSEPCGTPCRLATLCAQLS
ARADSPALCRHLMPDGSLPEAQSLWPRPLFC

Sequence length

631

Interactions

View interactions

	KEGG		Reactome
	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway Lysosome Necroptosis		Glycosphingolipid metabolism

2195

Show/Hide Causal Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of metabolism/homeostasis	Likely pathogenic; Pathogenic	rs120074117	RCV001814072
Acid sphingomyelinase deficiency	Pathogenic; Likely pathogenic	rs200763423, rs2134010914, rs387906289, rs2493820064, rs756366019, rs759389193	RCV005635328 RCV002275717 RCV005357060 RCV005636854 RCV005359522 RCV005633681
Ceroid lipofuscinosis, neuronal, 6A	Pathogenic	rs587779408	RCV000087097
Intellectual disability	Likely pathogenic; Pathogenic	rs752000778	RCV001293359
Lysosomal storage disease	Likely pathogenic	rs369088417	RCV006252574
Niemann-pick disease, intermediate, protracted neurovisceral	Pathogenic	rs120074125, rs120074128	RCV000003125 RCV000003129
Niemann-Pick disease, type A	Likely pathogenic; Pathogenic	rs2134006179, rs1847935299, rs587779408, rs2134006592, rs2134009384, rs2134009550, rs1590738910, rs2134012543, rs2134012580, rs2134013240, rs2134013368, rs2134017039, rs776442314, rs2134017306, rs2134017443 View all (279 more)	RCV001386058 RCV001390955 RCV000169278 RCV001527413 RCV001527414 RCV001527437 RCV001527416 RCV001527439 RCV001527442 RCV001527438 RCV001527422 RCV001527423 RCV001527424 RCV001527436 RCV001527425 RCV003463044 RCV001527429 RCV001527441 RCV001527431 RCV001527432 RCV001527440 RCV001527433 RCV005050389 RCV001868869 RCV002013686 RCV001870930 RCV001889140 RCV002037625 RCV001999938 RCV002009894 RCV001964045 RCV002029834 RCV001950889 RCV002044012 RCV001931301 RCV001975994 RCV002017483 RCV002017523 RCV002017538 RCV002001334 RCV002007266 RCV002004047 RCV001908118 RCV001893706 RCV002002504 RCV002050526 RCV001953401 RCV002005714 RCV002016966 RCV001933891 RCV001956392 RCV002022940 RCV001951425 RCV001980230 RCV001980495 RCV001863466 RCV001943470 RCV000806406 RCV000153979 RCV000410051 RCV000586553 RCV002306779 RCV002309658 RCV002307951 RCV002308081 RCV002309033 RCV002309513 RCV002310495 RCV002308414 RCV000003116 RCV000003118 RCV000003120 RCV002512692 RCV000003123 RCV000003124 RCV000410490 RCV000411474 RCV000634567 RCV000169297 RCV000003130 RCV001379382 RCV002468685 RCV000169189 RCV000169578 RCV000169504 RCV000169205 RCV000169478 RCV000169329 RCV003062323 RCV003062324 RCV003062328 RCV003037365 RCV003037366 RCV003062330 RCV003088035 RCV003080268 RCV003073358 RCV000984222 RCV005050588 RCV000674497 RCV002602064 RCV003765159 RCV001380608 RCV002796345 RCV002870917 RCV002834599 RCV002881642 RCV002847447 RCV002890334 RCV002889945 RCV002910238 RCV002966984 RCV002975493 RCV001004367 RCV002991766 RCV003022199 RCV003042596 RCV003061886 RCV000211528 RCV000211502 RCV000211485 RCV000211451 RCV000211462 RCV000211503 RCV005215969 RCV003159268 RCV003222544 RCV000262606 RCV005860367 RCV003333258 RCV003333259 RCV003333260 RCV003388675 RCV003474042 RCV003474044 RCV003474046 RCV003474047 RCV003474049 RCV003474050 RCV003474051 RCV003474052 RCV003474053 RCV003474054 RCV003474055 RCV003466409 RCV003463565 RCV003466410 RCV003466411 RCV003463566 RCV003466412 RCV003466413 RCV003785563 RCV003783839 RCV003797944 RCV003795932 RCV003781118 RCV003780012 RCV003782629 RCV003785126 RCV003798316 RCV003794642 RCV003807785 RCV003808105 RCV003800087 RCV003805530 RCV003805587 RCV003804332 RCV003799285 RCV003800560 RCV003803276 RCV003795196 RCV003800483 RCV003809328 RCV003802212 RCV003815686 RCV003801610 RCV003815544 RCV003813260 RCV003813376 RCV003807596 RCV003812948 RCV003812952 RCV003810426 RCV003990863 RCV004573669 RCV004573670 RCV004573671 RCV005051453 RCV004573674 RCV004584252 RCV000411564 RCV000409195 RCV000410343 RCV000412017 RCV000410072 RCV000410791 RCV001004575 RCV000411552 RCV000409293 RCV000409705 RCV001250174 RCV000409737 RCV000411726 RCV000411029 RCV000409661 RCV000410948 RCV000410844 RCV000411708 RCV000410839 RCV000411576 RCV000411063 RCV004596176 RCV000416311 RCV003766213 RCV000665319 RCV003767346 RCV003767348 RCV001004574 RCV000666977 RCV000671945 RCV000667853 RCV000671732 RCV000668447 RCV000666528 RCV000674077 RCV000674170 RCV000666041 RCV000667089 RCV000669508 RCV000667531 RCV000674668 RCV000666408 RCV000669477 RCV000668721 RCV000668954 RCV000674091 RCV000664755 RCV000672040 RCV000667966 RCV000671268 RCV000666096 RCV000666375 RCV000671468 RCV000671780 RCV000664760 RCV000670505 RCV000669272 RCV000666085 RCV000669468 RCV000674585 RCV000673561 RCV000672963 RCV000689782 RCV001201270 RCV000778332 RCV002535682 RCV000808902 RCV001869160 RCV000805997 RCV000794074 RCV003473504 RCV000988482 RCV001004571 RCV001004572 RCV001004573 RCV001004577 RCV001004579 RCV001004580 RCV001004582 RCV001004585 RCV001004366 RCV001004368 RCV001063146 RCV001039240 RCV001071343 RCV001281431 RCV001215256 RCV001210783 RCV001232656 RCV001239960 RCV001241647 RCV001244445 RCV001262263 RCV001281391 RCV001281393 RCV001281394 RCV001281395 RCV001281396 RCV001281397 RCV001281398 RCV001281399 RCV001281400 RCV001281401 RCV001281402 RCV001281403 RCV001281404 RCV001281407 RCV001281409 RCV001281410 RCV001281411 RCV001281412 RCV001281413 RCV001281414 RCV001281415 RCV001281416 RCV001281418 RCV001281419 RCV001281420 RCV001281421 RCV001281422 RCV001281423 RCV001281424 RCV001281428 RCV001281430 RCV005050319 RCV000410331 RCV001004369 RCV000169170 RCV000700954 RCV000175626 RCV000411491
Niemann-Pick disease, type B	Likely pathogenic; Pathogenic	rs2134006179, rs1847935299, rs587779408, rs2134009384, rs2134010914, rs1057435197, rs2134013368, rs776442314, rs1162794351, rs2134017443, rs2134019797, rs943924098, rs199915216, rs2134024349, rs774309925 View all (213 more)	RCV001386058 RCV001390955 RCV000689686 RCV001527414 RCV001527417 RCV001527419 RCV002568858 RCV001873722 RCV001527426 RCV001655799 RCV001527427 RCV001527431 RCV005050388 RCV001527435 RCV001868869 RCV002013686 RCV001870930 RCV001889140 RCV002037625 RCV001999938 RCV002009894 RCV001964045 RCV002029834 RCV001950889 RCV002044012 RCV001931301 RCV001975994 RCV002017483 RCV002017523 RCV002017538 RCV002001334 RCV002007266 RCV002004047 RCV001908118 RCV001893706 RCV002002504 RCV002050526 RCV001953401 RCV002005714 RCV002016966 RCV001933891 RCV001956392 RCV002022940 RCV001951425 RCV001980230 RCV001980495 RCV001863466 RCV001943470 RCV000806406 RCV001045638 RCV001207366 RCV000824303 RCV002306779 RCV002309658 RCV002307951 RCV002308081 RCV002309033 RCV002309513 RCV002310495 RCV002308414 RCV001851600 RCV000003117 RCV001390954 RCV000003122 RCV000984009 RCV000984010 RCV000797253 RCV000003126 RCV000003127 RCV000003128 RCV001824114 RCV001379382 RCV001199862 RCV001220627 RCV001067762 RCV003765054 RCV000802459 RCV001208506 RCV003062323 RCV003062324 RCV003062328 RCV003037365 RCV003037366 RCV003062330 RCV003088035 RCV003080268 RCV003073358 RCV000984223 RCV002510641 RCV000700960 RCV002602064 RCV001582677 RCV001380608 RCV002796345 RCV002870917 RCV002834599 RCV002881642 RCV002847447 RCV002890334 RCV002889945 RCV002910238 RCV002966984 RCV002975493 RCV001384265 RCV002991766 RCV003022199 RCV003042596 RCV003061886 RCV005215969 RCV003317026 RCV003779121 RCV003779122 RCV005051318 RCV003779123 RCV003785563 RCV003783839 RCV003797944 RCV003795932 RCV003781118 RCV003780012 RCV003782629 RCV003785126 RCV003798316 RCV003794642 RCV003807785 RCV003808105 RCV003800087 RCV003805530 RCV003805587 RCV003804332 RCV003799285 RCV003800560 RCV003803276 RCV003795196 RCV003800483 RCV003809328 RCV003802212 RCV003815686 RCV003801610 RCV003815544 RCV003813260 RCV003813376 RCV003807596 RCV003812948 RCV003812952 RCV003810426 RCV005051453 RCV001067896 RCV002524623 RCV000763264 RCV000589803 RCV003766133 RCV001229670 RCV001250174 RCV001221943 RCV001379856 RCV001850949 RCV005049537 RCV003766123 RCV001388425 RCV003766213 RCV001851371 RCV003767346 RCV003767348 RCV000634568 RCV001378222 RCV001420709 RCV001527418 RCV002530686 RCV001861832 RCV001383207 RCV002530714 RCV003768012 RCV001855459 RCV001868233 RCV003767966 RCV001380610 RCV001527434 RCV001250173 RCV001527420 RCV001215758 RCV001386465 RCV001868244 RCV003767973 RCV001388424 RCV000689782 RCV001388423 RCV003768424 RCV002535682 RCV000808902 RCV001869160 RCV000805997 RCV000794074 RCV000819539 RCV001860553 RCV005049727 RCV001389951 RCV001251129 RCV001862735 RCV001213865 RCV002549241 RCV001250172 RCV001063146 RCV001039240 RCV001071343 RCV001281431 RCV001215256 RCV001210783 RCV001232656 RCV001239960 RCV001241647 RCV001244445 RCV001383208 RCV001281391 RCV001281393 RCV001281394 RCV001281395 RCV001281396 RCV001281397 RCV001281398 RCV001281399 RCV001281400 RCV001281401 RCV001281402 RCV001281403 RCV001281404 RCV001281407 RCV001281409 RCV001281410 RCV001281411 RCV001281412 RCV001281413 RCV001281414 RCV001281415 RCV001281416 RCV001281418 RCV001281419 RCV001281420 RCV001281421 RCV001281422 RCV001281423 RCV001281424 RCV001281428 RCV001281430 RCV005050319 RCV001380609 RCV001388422 RCV000688387 RCV000700954 RCV000821795 RCV002514391
Niemann-Pick disease, type C1	Pathogenic	rs755160837, rs398123478	RCV003447572 RCV005644517
See cases	Pathogenic	rs398123478	RCV002251966
SMPD1-related disorder	Likely pathogenic; Pathogenic	rs753508874, rs786204506, rs769904764, rs1057517195, rs1057516432, rs771336819, rs1205990349, rs1590735307, rs398123476, rs182812968, rs398123479	RCV004729017 RCV003947446 RCV003955080 RCV004742410 RCV003950318 RCV004742566 RCV003980292 RCV004743247 RCV003894930 RCV003925040 RCV004742247
Sphingomyelin/cholesterol lipidosis	Pathogenic; Likely pathogenic	rs587779408, rs2134010914, rs776442314, rs2134024349, rs369088417, rs120074117, rs727504166, rs727504167, rs120074119, rs120074120, rs120074121, rs120074123, rs120074124, rs387906289, rs120074125 View all (49 more)	RCV001248881 RCV004770167 RCV003323898 RCV004526854 RCV005238008 RCV001248980 RCV001248935 RCV001248979 RCV001248875 RCV001248867 RCV004799730 RCV001248870 RCV000192222 RCV000192223 RCV001248981 RCV000192225 RCV001248934 RCV001248931 RCV001249038 RCV001248976 RCV001248975 RCV001249039 RCV001248877 RCV004765637 RCV003331417 RCV001248878 RCV001248982 RCV000192219 RCV000192224 RCV003230928 RCV003324398 RCV003330487 RCV001248977 RCV001248932 RCV001248876 RCV001248873 RCV001248930 RCV001249040 RCV001249050 RCV001249041 RCV003114524 RCV004586746 RCV001248874 RCV005240439 RCV001553551 RCV006265188 RCV001269196 RCV003330876 RCV005407867 RCV003230573 RCV001269099 RCV001255598 RCV002307652 RCV005912368 RCV005236584 RCV005236604 RCV005909150 RCV003387986 RCV005910840 RCV004690065 RCV001273166 RCV000192226 RCV001248882 RCV001248868

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign; Likely benign	rs141641266, rs1803160	RCV005895117 RCV005892995
Clear cell carcinoma of kidney	Benign; Likely benign	rs141641266	RCV005895118
Colon adenocarcinoma	Benign; Likely benign	rs141641266	RCV005895113
Familial cancer of breast	Benign; Likely benign	rs141641266	RCV005895112
Gastric cancer	Benign; Likely benign	rs141641266	RCV005895120
Gaucher disease	Conflicting classifications of pathogenicity	rs1554933800	RCV001272132
Hepatocellular carcinoma	Benign; Likely benign	rs141641266	RCV005895115
Lung cancer	Benign; Likely benign	rs141641266	RCV005895126
Malignant tumor of urinary bladder	Benign; Likely benign	rs141641266	RCV005895114
Melanoma	Benign; Likely benign	rs141641266	RCV005895125
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs141641266	RCV005895116
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs141641266	RCV005895121
Thymoma	Benign; Likely benign	rs141641266	RCV005895123
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs141641266	RCV005895124
Uterine carcinosarcoma	Benign; Likely benign	rs141641266	RCV005895122
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs141641266	RCV005895127
Uveal melanoma	Benign; Likely benign	rs141641266	RCV005895119

Show/Hide Text Mining Associations (72)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenomatous Polyposis Coli	Associate	10496347
Alzheimer Disease	Associate	25938590, 33925997
Amenorrhea	Associate	23356216
Atherosclerosis	Associate	19951413
Attention Deficit Disorder with Hyperactivity	Associate	32661301
Autism Spectrum Disorder	Associate	31595719
Beckwith Wiedemann Syndrome	Associate	11173664, 11310411
beta Thalassemia	Associate	36725747
Blood Coagulation Disorders	Associate	34075401
Budd Chiari Syndrome	Associate	36114502
Carcinoma Hepatocellular	Associate	39596241
Colorectal Neoplasms	Associate	29973580, 32273521, 39898245
Coronary Artery Disease	Associate	37298446
COVID 19	Associate	34075401
Dementia	Associate	25938590, 31195602
Dermatitis Atopic	Associate	15175033, 32092464
Dermatitis Exfoliative	Associate	32265319
Developmental Disabilities	Associate	31941852
Diabetes Mellitus	Associate	19951413
Diabetes Mellitus	Stimulate	28457994
Disease	Associate	2023926
Distal myopathy Nonaka type	Associate	32375665
Down Syndrome	Associate	37175979
Drug Hypersensitivity	Associate	24977483
Endometriosis	Associate	35992117
Facial Hemihypertrophy	Associate	11310411
Failure to Thrive	Associate	11173664
Frontotemporal Dementia	Associate	37003407
Gaucher Disease	Associate	31941852, 32375665
Genetic Predisposition to Disease	Associate	39441731
Glioblastoma	Associate	23667632
Hepatitis B	Associate	1885770, 2023926, 25811928, 31122880
Hepatitis B	Inhibit	25811928
Hepatomegaly	Associate	11173664
Hypercholesterolemia	Associate	32375665
Hypersensitivity Immediate	Associate	1391960
Immunologic Deficiency Syndromes	Associate	27484861
Inflammation	Associate	19951413, 20071681, 24977483
Inflammatory Bowel Diseases	Associate	19951413
Intellectual Disability	Associate	11173664
Leukemia Myeloid Acute	Associate	23916810
Lewy Body Disease	Associate	25933391
Lung Neoplasms	Associate	40159631
Lysosomal Storage Diseases	Associate	1885770, 26084044, 33925997, 34576242, 39441731
Mental Disorders	Associate	24977483
Mucolipidoses	Associate	23535491, 30795770, 8106525
Multiple Sclerosis	Stimulate	35886939
Muscle Hypotonia	Associate	11173664
Muscular dystrophy congenital with central nervous system involvement	Associate	23356216
Nasopharyngeal Carcinoma	Associate	34064109
Neoplasms	Associate	31489901, 39898245
Nervous System Diseases	Stimulate	22258513
Nervous System Diseases	Associate	31941852
Netherton Syndrome	Associate	32092464, 32265319
Neurodegenerative Diseases	Associate	27484861, 33925997
Niemann Pick Disease Type A	Inhibit	11173664, 24190732, 27725636, 35883096, 36333862
Niemann Pick Disease Type A	Associate	11310411, 1391960, 1565614, 1618760, 1885770, 2023926, 23188845, 23356216, 25920558, 27484861, 30223864, 30795770, 31122880, 31132580, 31941852 View all (8 more)
Niemann Pick Disease Type B	Associate	12369017, 1618760, 18088425, 1885770, 19405096, 2023926, 23188845, 25811928, 25920558, 26981555, 27725636, 30795770, 31122880, 32375665, 36114502, 36333862, 8693491 View all (2 more)
Niemann Pick Disease Type B	Inhibit	28665212, 29369793
Niemann Pick Disease Type C	Associate	26981555
Niemann Pick Diseases	Associate	11173664, 11310411, 1391960, 1565614, 1618760, 18088425, 1885770, 2023926, 21098024, 23188845, 23356216, 24190732, 25811928, 26084044, 26783088 View all (11 more)
Niemann Pick Diseases	Inhibit	30223864, 32375665
Nijmegen Breakage Syndrome	Associate	34576242
Ovarian Neoplasms	Associate	26125272
Parkinson Disease	Associate	23535491, 29029963, 30788890, 31595719, 35181782
Parkinson Disease Secondary	Associate	33925997
Proteinuria	Associate	23356216
Simpson Golabi Behmel syndrome	Associate	11310411
Soft Tissue Injuries	Associate	34075401
Tay Sachs Disease	Associate	23535491
Thrombophilia	Associate	34075401
Virus Diseases	Associate	34075401

SMPD1 (sphingomyelin phosphodiesterase 1)