SMPD1 (sphingomyelin phosphodiesterase 1)

Gene

• Entrez ID: 6609
• Gene name: Sphingomyelin phosphodiesterase 1
• Gene symbol: SMPD1
• Synonyms (NCBI Gene): ASM, ASMASE, NPD
• 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

SNPs

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

miRNA

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

Transcription factors

Transcription factor	Regulation	Reference
SP1	Activation	10224156

Gene ontology (GO)

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

Other IDs

• MIM: 607608
• HGNC: 11120
• e!Ensembl: ENSG00000166311

Protein

• UniProt ID: 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

Pathways

KEGG:

Sphingolipid metabolism
Metabolic pathways
Sphingolipid signaling pathway
Lysosome
Necroptosis

Reactome:

Glycosphingolipid metabolism

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
Abnormality of metabolism/homeostasis	Likely pathogenic; Pathogenic	rs120074117	RCV001814072	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acid sphingomyelinase deficiency	Pathogenic; Likely pathogenic	rs200763423, rs2134010914, rs387906289, rs2493820064, rs756366019, rs759389193	RCV005635328 RCV002275717 RCV005357060 RCV005636854 RCV005359522 RCV005633681	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ceroid lipofuscinosis, neuronal, 6A	Pathogenic	rs587779408	RCV000087097	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs752000778	RCV001293359	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lysosomal storage disease	Likely pathogenic	rs369088417	RCV006252574	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Niemann-pick disease, intermediate, protracted neurovisceral	Pathogenic	rs120074125, rs120074128	RCV000003125 RCV000003129	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Niemann-Pick disease, type A	Likely pathogenic; Pathogenic	rs2134006179, rs1847935299, rs587779408, rs2134006592, rs2134009384, rs2134009550, rs1590738910, rs2134012543, rs2134012580, rs2134013240, rs2134013368, rs2134017039, rs776442314, rs2134017306, rs2134017443, rs2134019797, rs2134021440, rs2134022652, rs943924098, rs199915216, rs2134023610, rs943865463, rs2134024349, rs774309925, rs120074117, rs2134013121, rs2134004628, rs200763423, rs2134009391, rs2134010621, rs760930408, rs1258231226, rs2134021058, rs1352986086, rs2134023663, rs2134012749, rs797044800, rs140688153, rs1301641750, rs2134012389, rs1057517098, rs2134011919, rs2134017711, rs2134023240, rs1590738506, rs369088417, rs2134006350, rs2134018090, rs1047531932, rs281860676, rs2134021618, rs2134004594, rs2134010245, rs753508874, rs2134006149, rs2134011809, rs727504166, rs727504165, rs727504167, rs2493813892, rs2493804168, rs2493804165, rs2493806137, rs2493800139, rs2493804143, rs2493800895, rs2493813577, rs120074119, rs120074120, rs120074121, rs120074123, rs120074124, rs387906289, rs120074125, rs120074126, rs120074127, rs120074128, rs267607075, rs267607074, rs1847955378, rs786204506, rs786204733, rs786204694, rs786204514, rs370129081, rs2493805405, rs2493806280, rs2493813796, rs767492080, rs1398380898, rs1847944661, rs2493804273, rs989639224, rs794727252, rs2493805504, rs769904764, rs797044797, rs2493798730, rs2493799100, rs2493800963, rs2493819725, rs1848086912, rs2493817033, rs754979734, rs2493816928, rs779080655, rs747143343, rs756192072, rs281860666, rs2493800618, rs875989833, rs875989835, rs875989832, rs875989837, rs875989834, rs771336819, rs2493822055, rs2493820064, rs770561559, rs886043098, rs1356136873, rs201127799, rs2493820709, rs2493820717, rs2493804110, rs2493807198, rs2493823444, rs2493799615, rs2493822373, rs2493805239, rs2493803771, rs2493807887, rs1847944988, rs1312743513, rs2493798396, rs2493798336, rs2493822223, rs2493822633, rs2493820319, rs2493800007, rs2493804047, rs2493813438, rs2493816636, rs1848019149, rs2493803501, rs2493823963, rs1690892137, rs2493819793, rs2493821808, rs2493796691, rs2134011288, rs1327201504, rs2493806373, rs2493805665, rs2493814068, rs2493806753, rs2493806489, rs2493800050, rs766945871, rs2493814324, rs2493819657, rs2493816545, rs2493808218, rs2493823558, rs2493817489, rs2493814313, rs2493820770, rs2493806963, rs2493807508, rs2493817085, rs2493807497, rs2493805420, rs2493824186, rs2493805738, rs2493807719, rs797044799, rs760865854, rs2493823785, rs2493805222, rs2493806255, rs1057516949, rs1057516722, rs1057516931, rs868423827, rs1057517086, rs1057517195, rs748165078, rs120074122, rs750779804, rs1057517345, rs1057516432, rs1057516454, rs1057517390, rs1057516854, rs1057517200, rs373940701, rs1057516403, rs1057517826, rs1554935254, rs1554935136, rs1342372980, rs756366019, rs1554934193, rs1225462507, rs1554934109, rs1554934212, rs1554934309, rs764317969, rs281860669, rs1554935555, rs1554935600, rs1554935610, rs281860663, rs1428487333, rs1554933746, rs750157176, rs780134410, rs1422720020, rs1554935273, rs1554935669, rs751269562, rs757934797, rs1554935439, rs756031857, rs750433951, rs1554935746, rs1205990349, rs1554933751, rs1554933780, rs1554934210, rs1423504237, rs1554934406, rs1554935285, rs1437508852, rs794727629, rs770962157, rs1564923612, rs761308217, rs759389193, rs201550531, rs1590743683, rs281860665, rs1590735238, rs1590735307, rs781535659, rs1590739350, rs1018556947, rs752148586, rs1470998208, rs755160837, rs779528546, rs748411156, rs1848015403, rs1848043657, rs1319643225, rs763099671, rs1848086376, rs1848099900, rs1847863441, rs1847925196, rs1848061158, rs1847910654, rs1847857299, rs1847871015, rs1847871996, rs1847878243, rs1369175943, rs1847910379, rs1847921260, rs1847921591, rs1847921909, rs772889728, rs1847923379, rs1847929817, rs1847939431, rs759950370, rs1847952502, rs1242180535, rs1847955457, rs1848014133, rs34555120, rs1848042860, rs1402734026, rs1848060631, rs1848060729, rs182812968, rs1848088118, rs1848099174, rs752000778, rs398123474, rs398123476, rs398123478, rs398123479, rs281860677	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Niemann-Pick disease, type B	Likely pathogenic; Pathogenic	rs2134006179, rs1847935299, rs587779408, rs2134009384, rs2134010914, rs1057435197, rs2134013368, rs776442314, rs1162794351, rs2134017443, rs2134019797, rs943924098, rs199915216, rs2134024349, rs774309925, rs120074117, rs2134013121, rs2134004628, rs200763423, rs2134009391, rs2134010621, rs760930408, rs1258231226, rs2134021058, rs1352986086, rs2134023663, rs2134012749, rs797044800, rs140688153, rs1301641750, rs2134012389, rs1057517098, rs2134011919, rs2134017711, rs2134023240, rs1590738506, rs369088417, rs2134006350, rs2134018090, rs1047531932, rs281860676, rs2134021618, rs2134004594, rs2134010245, rs753508874, rs2134006149, rs2134011809, rs727504166, rs727504165, rs727504167, rs2493813892, rs2493804168, rs2493804165, rs2493806137, rs2493800139, rs2493804143, rs2493800895, rs2493813577, rs120074119, rs267607073, rs120074120, rs120074123, rs120074124, rs387906289, rs120074125, rs120074126, rs120074127, rs120074128, rs267607075, rs267607074, rs786204506, rs786204733, rs786204694, rs786204514, rs370129081, rs2493805405, rs2493806280, rs2493813796, rs767492080, rs1398380898, rs1847944661, rs2493804273, rs989639224, rs794727252, rs2493805504, rs769904764, rs797044797, rs2493798730, rs2493799100, rs2493800963, rs2493819725, rs1848086912, rs2493817033, rs754979734, rs2493816928, rs779080655, rs747143343, rs756192072, rs281860666, rs2493800618, rs2493822055, rs1356136873, rs2493805239, rs1312743513, rs2493798336, rs2493813438, rs1848019149, rs2493803501, rs2493823963, rs1690892137, rs2493819793, rs2493821808, rs2493796691, rs2134011288, rs1327201504, rs2493806373, rs2493805665, rs2493814068, rs2493806753, rs2493806489, rs2493800050, rs766945871, rs2493814324, rs2493819657, rs2493816545, rs2493808218, rs2493823558, rs2493817489, rs2493814313, rs2493820770, rs2493806963, rs2493807508, rs2493817085, rs2493807497, rs2493805420, rs2493824186, rs2493823785, rs1057516949, rs868423827, rs1057517195, rs748165078, rs750779804, rs1057516432, rs1057516454, rs1057516854, rs1057517200, rs1057516403, rs1554935136, rs1342372980, rs756366019, rs1554934193, rs1225462507, rs1554934212, rs764317969, rs281860669, rs771336819, rs281860663, rs1428487333, rs1554933746, rs750157176, rs780134410, rs1422720020, rs1554935669, rs751269562, rs757934797, rs750433951, rs1205990349, rs1554933751, rs1554933780, rs1437508852, rs794727629, rs770962157, rs1564923612, rs761308217, rs759389193, rs201550531, rs1590743683, rs281860665, rs1590735238, rs1590735307, rs1018556947, rs752148586, rs1470998208, rs755160837, rs779528546, rs748411156, rs1848015403, rs1848043657, rs1319643225, rs763099671, rs1848086376, rs1848099900, rs1847863441, rs1847925196, rs1848061158, rs1847910654, rs1847857299, rs1847871015, rs1847871996, rs1847878243, rs1369175943, rs1847910379, rs1847921260, rs1847921591, rs1847921909, rs772889728, rs1847923379, rs1847929817, rs1847939431, rs759950370, rs1847952502, rs1242180535, rs1847955457, rs1848014133, rs34555120, rs1848042860, rs1402734026, rs1848060631, rs1848060729, rs182812968, rs1848088118, rs1848099174, rs752000778, rs398123474, rs398123476, rs398123478, rs398123479, rs281860677	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Niemann-Pick disease, type C1	Pathogenic	rs755160837, rs398123478	RCV003447572 RCV005644517	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sphingomyelin/cholesterol lipidosis	Pathogenic; Likely pathogenic	rs587779408, rs2134010914, rs776442314, rs2134024349, rs369088417, rs120074117, rs727504166, rs727504167, rs120074119, rs120074120, rs120074121, rs120074123, rs120074124, rs387906289, rs120074125, rs120074126, rs120074127, rs120074128, rs267607075, rs786204733, rs786204694, rs753508874, rs370129081, rs2493805405, rs767492080, rs794727252, rs769904764, rs797044797, rs797044800, rs2493799201, rs1848064978, rs2493823426, rs1057517098, rs1057517195, rs989639224, rs120074122, rs750779804, rs1057516432, rs1057516454, rs1057516854, rs943924098, rs1554935136, rs756366019, rs1554934109, rs764317969, rs281860663, rs750157176, rs1554935669, rs751269562, rs794727629, rs201550531, rs281860665, rs1590735307, rs1590739350, rs1319643225, rs763099671, rs281860666, rs1847910654, rs267607074, rs752000778, rs398123474, rs182812968, rs398123478, rs398123479	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC VISCERAL ACID SPHINGOMYELINASE DEFICIENCY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gaucher disease	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIEMANN-PICK DISEASE	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIEMANN-PICK DISEASE TYPE A	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIEMANN-PICK DISEASE TYPE B	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIEMANN-PICK DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMOOTH SURFACE DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	12774245		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	30238430		★☆☆☆☆ Found in Text Mining only
Aggressive Systemic Mastocytosis	Systemic Mastocytosis	BEFREE	25898364, 27868341		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	25938590, 33925997	Associate	★☆☆☆☆ Found in Text Mining only
Amenorrhea	Amenorrhea	Pubtator	23356216	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	25075126		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	31333574		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	31333574		★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	21674735, 30451833, 30677425, 31821039		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	21799075, 30076719, 30556232, 31494944, 31649532, 31845415		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	Pubtator	19951413	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	21674735, 30451833, 30677425, 31821039		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	30677425		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	32661301	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	31595719	Associate	★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	36725747	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	12442002		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	34075401	Associate	★☆☆☆☆ Found in Text Mining only
Bronchial Hyperreactivity	Bronchial Hyperreactivity	BEFREE	30506113		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	39596241	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	26125272		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	28420138		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	31848475		★☆☆☆☆ Found in Text Mining only
CATARACT, ANTERIOR POLAR	Cataract	BEFREE	31711507		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	29282302		★☆☆☆☆ Found in Text Mining only
CEROID LIPOFUSCINOSIS, NEURONAL, 6	Neuronal ceroid lipofuscinosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	28420138		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	17513456		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	31031628, 31275322		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	23298833		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29973580, 32273521, 39898245	Associate	★☆☆☆☆ Found in Text Mining only
Congenital hemihypertrophy	Congenital Hemihypertrophy	BEFREE	11310411		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28420138		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	12607113		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	37298446	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	18376404, 18955860, 19168701, 24977480, 25130702, 31494944		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	25938590		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	25938590, 31195602	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	23770692, 28000031, 28842833, 31200571, 31333574		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	15175033, 32092464	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	LHGDN	15175033		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	15013932		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	31941852	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	26676316, 28457994		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	19951413	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	26676316, 28457994		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	28457994	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29923306		★☆☆☆☆ Found in Text Mining only
Diabetic Angiopathies	Diabetic cardiomyopathy	BEFREE	29923306, 30677425		★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic Nephropathy	BEFREE	29317203		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	21771974, 26676316		★☆☆☆☆ Found in Text Mining only
Distal myopathy Nonaka type	Distal myopathy	Pubtator	32375665	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	37175979	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysferlinopathy	Dysferlinopathy	BEFREE	24967968		★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	BEFREE	1953776		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	35992117	Associate	★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	BEFREE	31576605		★☆☆☆☆ Found in Text Mining only
Farber Lipogranulomatosis	Farber disease	BEFREE	23229750, 31835809		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	21910084, 28462076		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	31821039		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	29506145		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	22102288		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	37003407	Associate	★☆☆☆☆ Found in Text Mining only
Gangliosidosis GM1	Gangliosidosis	BEFREE	31819150		★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	24915861, 31565589		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Gaucher Disease	Gaucher disease	Pubtator	31941852, 32375665	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Genetic Predisposition to Disease	Genetic predisposition to disease	Pubtator	39441731	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	23667632	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	17576160		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	27214377		★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	1885770, 2023926, 25811928, 31122880	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	25811928	Inhibit	★☆☆☆☆ Found in Text Mining only
Hepatomegaly	Hepatomegaly	Pubtator	11173664	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	28633109		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	Pubtator	32375665	Associate	★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	23707365		★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	1391960	Associate	★☆☆☆☆ Found in Text Mining only
Hypersplenism	Hypersplenism	BEFREE	24643943		★☆☆☆☆ Found in Text Mining only
Hypersplenism	Hypersplenism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypocupremia	Hypocupremia	BEFREE	21273508		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	30550872		★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	24643943		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	19951413	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	11173664	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Iron-Refractory Iron Deficiency Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	CTD_human_DG	26980705		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Acute	Kidney Failure	BEFREE	28490444		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	26809095		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	23916810	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Mast-Cell	Leukemia	BEFREE	27214377, 28775983		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	23916810, 28960095		★☆☆☆☆ Found in Text Mining only
Leukodystrophy, Metachromatic	Metachromatic Leukodystrophy	BEFREE	24190732		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	25933391	Associate	★☆☆☆☆ Found in Text Mining only
Lipid Metabolism Disorders	Lipid Metabolism Disorders	BEFREE	24643943		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	23298833		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	31494944		★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	28883000		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	40159631	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	27866044, 29698625, 30191367, 30386262, 31835809		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	23724146		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	26125272		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28872752		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23290778, 24029234, 26125272, 27435900, 28358364, 28697173, 29896202, 2996753, 31489901		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	23298833		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	15877209, 22818240		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	18426979		★☆☆☆☆ Found in Text Mining only
Mastocytosis, Systemic	Mastocytosis	BEFREE	24281161, 27214377		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	18628757, 24317198, 26741636		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	LHGDN	18628757		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	23770692, 28000031, 31200571, 31333574		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	17360762, 30368807		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	24916532, 29923306		★☆☆☆☆ Found in Text Mining only
Mucolipidoses	Mucolipidosis	Pubtator	23535491, 30795770, 8106525	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	31756922, 31801274		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	26597010, 28582448, 29131010, 29449691, 30553168, 31778303		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	35886939	Stimulate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	29906461		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	24190732		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	34064109	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12774245, 18628757, 20941382, 23298833, 23724146, 23936314, 24317198, 24951586, 26741636, 27702691, 27744579, 28883000, 29158292, 29506145, 29507692, 29896202, 29908122, 31061069, 31489901		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	22258513	Stimulate	★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	31941852	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	22818240, 27153397		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	27484861, 33925997	Associate	★☆☆☆☆ Found in Text Mining only
Niemann-Pick disease type A	Niemann-Pick Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Niemann-Pick disease type B	Niemann-Pick Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL (disorder)	Niemann-pick disease, protracted neurovisceral	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type A	Niemann-Pick Disease	BEFREE	10206162, 10608504, 20408734, 21214563, 22818240, 23356216, 23618813, 24488099, 26851525, 27620840, 27659707, 30530526, 30611303, 31122880, 31132580, 31142470, 31819150, 8693491, 9505258		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Niemann-Pick Disease, Type A	Niemann-Pick Disease	CLINVAR_DG	10694919, 12369017, 12556236, 12607113, 12694237, 12712061, 1391960, 14681755, 15221801, 15234149, 15241805, 15545621, 15612058, 15877209, 16010684, 16151905, 1618760, 16264060, 16434659, 16642440, 17011332, 17360762, 17876723, 18052040, 1840600, 18625664, 18815062, 1885770, 19405096, 2023926, 20386867, 21098024, 22796693, 22818240, 23188845, 23252888, 23356216, 23412609, 23430512, 23430884, 23430949, 23535491, 24446175, 24718843, 24767253, 25834946, 26084044, 26169695, 26499107, 26851525, 26913189, 27238910, 27338287, 27725636, 28600779, 7762557, 8053910, 8225311, 8401540, 8407868, 8499909, 8664904, 8680412, 9266408		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Niemann-Pick Disease, Type A	Niemann-Pick Disease	GENOMICS_ENGLAND_DG	12369017, 15305357, 16623786, 26499107, 27604308		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Niemann-Pick Disease, Type A	Niemann-Pick Disease	UNIPROT_DG	12556236, 1391960, 15221801, 15877209, 1618760, 1718266, 18815062, 19405096, 2023926, 20386867, 22818240, 23252888, 23430884, 26499107, 27338287, 8680412, 8693491, 9266408		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Niemann-Pick Disease, Type A	Niemann-Pick Disease	ORPHANET_DG	19405096		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Niemann-Pick Disease, Type A	Niemann-Pick Disease	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Niemann-Pick Disease, Type B	Niemann-Pick Disease	CLINVAR_DG	10694919, 12369017, 12556236, 12607113, 12694237, 12712061, 1391960, 15221801, 15234149, 15241805, 15545621, 15877209, 16642440, 17011332, 17876723, 18815062, 1885770, 19405096, 2023926, 20386867, 21454466, 21502868, 22796693, 22818240, 23188845, 23252888, 23356216, 23430512, 24767253, 26084044, 26913189, 26981555, 27338287, 28600779, 8225311, 8401540, 8680412, 9266408		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Niemann-Pick Disease, Type B	Niemann-Pick Disease	LHGDN	12369017		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Niemann-Pick Disease, Type B	Niemann-Pick Disease	GENOMICS_ENGLAND_DG	12369017, 16623786, 27604308		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Niemann-Pick Disease, Type B	Niemann-Pick Disease	UNIPROT_DG	12369017, 12556236, 1301192, 15241805, 16010684, 1618760, 16472269, 18815062, 1885770, 19050888, 19405096, 20386867, 21621718, 22613662, 22818240, 23252888, 23430512, 25920558, 26084044, 26499107, 27338287, 27659707, 8051942, 8664904		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Niemann-Pick Disease, Type B	Niemann-Pick Disease	BEFREE	15702402, 16802107, 22264577, 22613662, 22818240, 23188845, 23415435, 24643943, 25920558, 28606376, 29948344, 31009819, 8225311, 9042807		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Niemann-Pick Disease, Type B	Niemann-Pick Disease	ORPHANET_DG	19405096		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Niemann-Pick Disease, Type B	Niemann-Pick Disease	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Niemann-Pick Disease, Type C	Niemann-Pick Disease	BEFREE	16802107, 23622394, 24190732, 28259515, 30153451		★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type E	Niemann-Pick Disease	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Niemann-Pick Diseases	Sphingomyelinase deficiency	BEFREE	10206162, 10464620, 10694919, 11310411, 11514235, 11994407, 12084440, 12607113, 1391960, 1482703, 15221801, 15241805, 15612058, 1565614, 16010684, 16099409, 1618760, 16642440, 17360762, 17517638, 17525274, 17632693, 18567738, 18815062, 19231265, 19385042, 19405096, 19944693, 2023926, 20386867, 21214563, 22102288, 22264577, 22367733, 22574943, 22818240, 23188845, 23252888, 23290778, 23356216, 23618813, 23622394, 24190732, 25803076, 25811928, 25966928, 25987176, 26084044, 26783088, 26790753, 27070082, 27338287, 27435900, 27491215, 27659707, 27725636, 27814975, 27865842, 27923544, 28164782, 28697173, 28801223, 29369793, 29845436, 31122880, 31636468, 7578419, 7600574, 7670466, 7727545, 7762557, 8693491, 9516458, 9864149		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Niemann-Pick Diseases	Sphingomyelinase deficiency	CLINVAR_DG	12369017, 12694237, 14681755, 15545621, 15877209, 17011332, 25920558		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Niemann-Pick Diseases	Sphingomyelinase deficiency	LHGDN	12556236, 15241805, 16472269, 18815062		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Niemann-Pick Diseases	Sphingomyelinase deficiency	CTD_human_DG	12631268		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	24769340		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28883000		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	31821039		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	20200320		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	28193296		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	26125272		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	26125272	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	23535491, 23871123, 24262184, 25099932, 26169695, 26320887, 26377108, 27449028, 27814975, 29029963, 29140481, 29369793, 30788890, 31595719		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	23535491, 29029963, 30788890, 31595719, 35181782	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	33925997	Associate	★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	30788890, 31686537		★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	29926493, 29926942		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	30238430		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	25938590		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28872752		★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	23356216	Associate	★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	27701117		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	29035882		★☆☆☆☆ Found in Text Mining only
Sea-Blue Histiocyte Syndrome	Sea-Blue Histiocytosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	15383576, 27701117, 28420138, 28955042, 30326559, 31711507		★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	29564578		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	21910084, 23707365, 28462076		★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	BEFREE	31279258		★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	Pubtator	34075401	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	31275322		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	27866044, 29698625, 31835809		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	31743567		★☆☆☆☆ Found in Text Mining only
Xanthomatosis	Xanthomatosis	HPO_DG			★☆☆☆☆ Found in Text Mining only