GALC (galactosylceramidase)

Gene

• Entrez ID: 2581
• Gene name: Galactosylceramidase
• Gene symbol: GALC
• Synonyms (NCBI Gene): -
• Chromosome: 14
• Chromosome location: 14q31.3
• Summary: This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been associated with Krabbe disease, also known as

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs11623	C>A,G,T	Pathogenic	Intron variant, upstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs11300320	AA>-,A,AAA	Likely-benign, benign, uncertain-significance, likely-pathogenic	Intron variant
rs34134328	G>A,C	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign	Coding sequence variant, missense variant
rs121908010	C>A	Pathogenic	Stop gained, coding sequence variant
rs138577661	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs145580093	T>C,G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs147313927	T>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs181066089	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs183105855	T>C	Pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs185073540	C>T	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs199847983	C>T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs200378205	C>G,T	Pathogenic-likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs200532368	G>A,C,T	Pathogenic, likely-benign	Coding sequence variant, synonymous variant, missense variant, stop gained
rs200607029	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs200960659	G>A,T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs201422931	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs202131052	T>A	Pathogenic	Coding sequence variant, stop gained
rs202135871	A>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs373587692	G>C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant, missense variant
rs374635469	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs375867319	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs377274761	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs387906952	C>T	Pathogenic	Coding sequence variant, missense variant
rs387906953	A>C	Pathogenic	Coding sequence variant, missense variant
rs387906954	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs387906955	C>A,T	Pathogenic	Upstream transcript variant, genic upstream transcript variant, coding sequence variant, intron variant, missense variant
rs398123175	A>C	Pathogenic	Splice donor variant
rs398123177	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs556647825	A>G	Conflicting-interpretations-of-pathogenicity	Upstream transcript variant, genic upstream transcript variant, synonymous variant, coding sequence variant
rs745620101	C>T	Pathogenic	Coding sequence variant, stop gained
rs746806459	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs746922378	T>A,G	Likely-pathogenic	Coding sequence variant, missense variant
rs748140458	C>T	Conflicting-interpretations-of-pathogenicity	Upstream transcript variant, genic upstream transcript variant, intron variant
rs748573754	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs749597090	C>T	Likely-pathogenic	Splice donor variant
rs749708827	CGTGA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs749893889	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs750524447	C>A,T	Likely-pathogenic	Splice donor variant
rs751283440	AAA>-,AA	Likely-pathogenic	Inframe indel, stop gained, coding sequence variant
rs751975987	C>A,G	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant, missense variant
rs752537626	T>G	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs756352952	G>A	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs756690487	C>T	Pathogenic	Missense variant, coding sequence variant
rs757407613	T>C	Pathogenic	Missense variant, coding sequence variant
rs758685128	C>T	Likely-pathogenic	Intron variant, genic upstream transcript variant, upstream transcript variant, initiator codon variant, missense variant
rs759068540	ACCATGGTTT>-	Conflicting-interpretations-of-pathogenicity	Intron variant, splice donor variant, coding sequence variant
rs759511006	C>T	Likely-pathogenic	Splice donor variant
rs761550284	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs762034337	T>A,C,G	Likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs766007316	->T	Likely-pathogenic	Stop gained, coding sequence variant
rs766310671	G>A	Pathogenic-likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs770389075	GAG>-	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Intron variant
rs770485731	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs771111145	G>A	Pathogenic	Intron variant, stop gained, coding sequence variant
rs771489305	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs775277935	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs776368825	G>A,T	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs777955784	CCTTA>-	Likely-pathogenic	Intron variant, splice donor variant, coding sequence variant
rs779701490	C>A	Likely-pathogenic	Splice donor variant
rs780750448	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs780972896	A>G,T	Likely-pathogenic	Intron variant, missense variant, upstream transcript variant, initiator codon variant, genic upstream transcript variant
rs786204454	A>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs786204618	G>T	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs794727116	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs886039569	A>G	Pathogenic	Coding sequence variant, missense variant
rs886042057	C>G	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, synonymous variant, genic upstream transcript variant, upstream transcript variant, intron variant
rs886042645	T>C,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs886043419	->CT	Likely-pathogenic, pathogenic	Coding sequence variant, intron variant, frameshift variant
rs886050866	T>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs959445153	G>A,C	Likely-pathogenic	Synonymous variant, stop gained, intron variant, coding sequence variant
rs968905231	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs997021099	T>A,G	Likely-pathogenic	Coding sequence variant, missense variant
rs1009872980	C>A,G,T	Likely-pathogenic	Upstream transcript variant, genic upstream transcript variant, splice donor variant, intron variant
rs1057516270	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1057516394	C>-,CC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516433	A>-	Likely-pathogenic	Coding sequence variant, stop gained
rs1057516453	A>T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs1057516469	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516632	A>C	Likely-pathogenic	Splice donor variant
rs1057516642	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057516673	T>A,C	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs1057516808	C>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516816	G>A,C,T	Likely-pathogenic	Upstream transcript variant, intron variant, coding sequence variant, stop gained, genic upstream transcript variant, synonymous variant
rs1057517033	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1057517082	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057517185	->CC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057517187	CACCCCGCCGCCGCT>-	Likely-pathogenic	Intron variant, upstream transcript variant, coding sequence variant, splice donor variant, genic upstream transcript variant
rs1057517372	->ACT	Likely-pathogenic	Coding sequence variant, stop gained
rs1057517382	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057518390	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1057518843	C>T	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1060499761	A>C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1064793131	C>-	Likely-pathogenic	Upstream transcript variant, intron variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1064795927	A>-	Likely-pathogenic	Upstream transcript variant, intron variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1240965365	G>A,C	Likely-benign, likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs1336726861	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1428763453	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1555377947	C>G	Likely-pathogenic	Splice acceptor variant
rs1555378534	A>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1555378538	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555378562	C>T	Likely-pathogenic	Splice acceptor variant
rs1555378701	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555379355	CAAC>-	Pathogenic	Splice donor variant, coding sequence variant
rs1555379669	C>G	Likely-pathogenic	Splice donor variant
rs1555381417	C>-	Likely-pathogenic	Splice donor variant, coding sequence variant
rs1555381439	ACTGTCTTCA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555381559	G>C	Likely-pathogenic	Stop gained, coding sequence variant
rs1555381958	AA>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1555383306	C>T	Likely-pathogenic	Intron variant
rs1555383308	->A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555383310	C>G	Likely-pathogenic	Splice acceptor variant
rs1555383498	A>G	Pathogenic	Coding sequence variant, missense variant
rs1555383517	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555383679	->T	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs1555383687	TTA>-	Conflicting-interpretations-of-pathogenicity	Inframe deletion, coding sequence variant
rs1555384318	C>T	Pathogenic	Coding sequence variant, missense variant, intron variant, genic upstream transcript variant, upstream transcript variant
rs1555384335	GAG>C	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant, genic upstream transcript variant, upstream transcript variant
rs1555384342	->CGCCGGGCGCCAGC	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant, genic upstream transcript variant, upstream transcript variant
rs1555384360	TA>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant, genic upstream transcript variant, upstream transcript variant
rs1555384380	C>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant, genic upstream transcript variant, upstream transcript variant
rs1555384381	->C	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant, genic upstream transcript variant, upstream transcript variant
rs1555384382	T>C	Likely-pathogenic	Initiator codon variant, missense variant, intron variant, genic upstream transcript variant, upstream transcript variant
rs1566967736	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1566972341	G>C	Pathogenic	Stop gained, coding sequence variant
rs1566974586	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1595190129	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1595236714	T>C	Likely-pathogenic	Splice acceptor variant
rs1595246385	CGCCGAACCC>-	Likely-pathogenic	Frameshift variant, upstream transcript variant, coding sequence variant, intron variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT053631	hsa-let-7f-5p	Microarray	22942087
MIRT664804	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT649811	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT649810	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT649809	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT649808	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT649807	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT649806	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT649805	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT649804	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT649802	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT649803	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT649801	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT649811	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT649810	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT649809	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT649808	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT649807	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT649806	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT649805	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT649804	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT649802	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT649803	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT649801	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT440591	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT440591	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT664804	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT649811	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT649810	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT649809	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT649808	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT649807	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT649806	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT649805	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT649804	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT649802	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT649803	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT649801	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT649811	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT649810	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT649809	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT649808	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT649807	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT649806	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT649805	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT649804	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT649802	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT649803	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT649801	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT1010455	hsa-miR-122	CLIP-seq
MIRT1010456	hsa-miR-1237	CLIP-seq
MIRT1010457	hsa-miR-1273d	CLIP-seq
MIRT1010458	hsa-miR-127-5p	CLIP-seq
MIRT1010459	hsa-miR-149	CLIP-seq
MIRT1010460	hsa-miR-15a	CLIP-seq
MIRT1010461	hsa-miR-15b	CLIP-seq
MIRT1010462	hsa-miR-16	CLIP-seq
MIRT1010463	hsa-miR-195	CLIP-seq
MIRT1010464	hsa-miR-24	CLIP-seq
MIRT1010465	hsa-miR-300	CLIP-seq
MIRT1010466	hsa-miR-3134	CLIP-seq
MIRT1010467	hsa-miR-3136-5p	CLIP-seq
MIRT1010468	hsa-miR-3148	CLIP-seq
MIRT1010469	hsa-miR-3152-3p	CLIP-seq
MIRT1010470	hsa-miR-342-5p	CLIP-seq
MIRT1010471	hsa-miR-3614-5p	CLIP-seq
MIRT1010472	hsa-miR-3659	CLIP-seq
MIRT1010473	hsa-miR-3688-3p	CLIP-seq
MIRT1010474	hsa-miR-371-5p	CLIP-seq
MIRT1010475	hsa-miR-381	CLIP-seq
MIRT1010476	hsa-miR-3925-5p	CLIP-seq
MIRT1010477	hsa-miR-3926	CLIP-seq
MIRT1010478	hsa-miR-409-5p	CLIP-seq
MIRT1010479	hsa-miR-424	CLIP-seq
MIRT1010480	hsa-miR-4284	CLIP-seq
MIRT1010481	hsa-miR-4302	CLIP-seq
MIRT1010482	hsa-miR-4310	CLIP-seq
MIRT1010483	hsa-miR-4314	CLIP-seq
MIRT1010484	hsa-miR-4426	CLIP-seq
MIRT1010485	hsa-miR-4439	CLIP-seq
MIRT1010486	hsa-miR-4468	CLIP-seq
MIRT1010487	hsa-miR-4513	CLIP-seq
MIRT1010488	hsa-miR-4520a-3p	CLIP-seq
MIRT1010489	hsa-miR-4520b-3p	CLIP-seq
MIRT1010490	hsa-miR-4524	CLIP-seq
MIRT1010491	hsa-miR-4534	CLIP-seq
MIRT1010492	hsa-miR-4536	CLIP-seq
MIRT1010493	hsa-miR-4647	CLIP-seq
MIRT1010494	hsa-miR-4651	CLIP-seq
MIRT1010495	hsa-miR-4662b	CLIP-seq
MIRT1010496	hsa-miR-4664-5p	CLIP-seq
MIRT1010497	hsa-miR-4666-3p	CLIP-seq
MIRT1010498	hsa-miR-4666-5p	CLIP-seq
MIRT1010499	hsa-miR-4667-5p	CLIP-seq
MIRT1010500	hsa-miR-4700-5p	CLIP-seq
MIRT1010501	hsa-miR-4708-3p	CLIP-seq
MIRT1010502	hsa-miR-4709-3p	CLIP-seq
MIRT1010503	hsa-miR-4777-3p	CLIP-seq
MIRT1010504	hsa-miR-4778-5p	CLIP-seq
MIRT1010505	hsa-miR-4802-3p	CLIP-seq
MIRT1010506	hsa-miR-483-3p	CLIP-seq
MIRT1010507	hsa-miR-485-3p	CLIP-seq
MIRT1010508	hsa-miR-488	CLIP-seq
MIRT1010509	hsa-miR-497	CLIP-seq
MIRT1010510	hsa-miR-503	CLIP-seq
MIRT1010511	hsa-miR-548s	CLIP-seq
MIRT1010512	hsa-miR-581	CLIP-seq
MIRT1010513	hsa-miR-589	CLIP-seq
MIRT1010514	hsa-miR-608	CLIP-seq
MIRT1010515	hsa-miR-637	CLIP-seq
MIRT1010516	hsa-miR-646	CLIP-seq
MIRT1010517	hsa-miR-664	CLIP-seq
MIRT1010518	hsa-miR-888	CLIP-seq
MIRT1010519	hsa-miR-890	CLIP-seq
MIRT1010520	hsa-miR-892b	CLIP-seq
MIRT1010521	hsa-miR-943	CLIP-seq
MIRT1010522	hsa-miR-1207-3p	CLIP-seq
MIRT1010455	hsa-miR-122	CLIP-seq
MIRT1010456	hsa-miR-1237	CLIP-seq
MIRT1010458	hsa-miR-127-5p	CLIP-seq
MIRT1010523	hsa-miR-1323	CLIP-seq
MIRT1010524	hsa-miR-155	CLIP-seq
MIRT1010525	hsa-miR-219-2-3p	CLIP-seq
MIRT1010526	hsa-miR-2964a-3p	CLIP-seq
MIRT1010465	hsa-miR-300	CLIP-seq
MIRT1010527	hsa-miR-3074-3p	CLIP-seq
MIRT1010466	hsa-miR-3134	CLIP-seq
MIRT1010467	hsa-miR-3136-5p	CLIP-seq
MIRT1010470	hsa-miR-342-5p	CLIP-seq
MIRT1010528	hsa-miR-34b	CLIP-seq
MIRT1010529	hsa-miR-3613-3p	CLIP-seq
MIRT1010471	hsa-miR-3614-5p	CLIP-seq
MIRT1010472	hsa-miR-3659	CLIP-seq
MIRT1010530	hsa-miR-3680	CLIP-seq
MIRT1010531	hsa-miR-3682-3p	CLIP-seq
MIRT1010473	hsa-miR-3688-3p	CLIP-seq
MIRT1010475	hsa-miR-381	CLIP-seq
MIRT1010476	hsa-miR-3925-5p	CLIP-seq
MIRT1010478	hsa-miR-409-5p	CLIP-seq
MIRT1010532	hsa-miR-4264	CLIP-seq
MIRT1010533	hsa-miR-4276	CLIP-seq
MIRT1010483	hsa-miR-4314	CLIP-seq
MIRT1010534	hsa-miR-4420	CLIP-seq
MIRT1010485	hsa-miR-4439	CLIP-seq
MIRT1010486	hsa-miR-4468	CLIP-seq
MIRT1010487	hsa-miR-4513	CLIP-seq
MIRT1010491	hsa-miR-4534	CLIP-seq
MIRT1010494	hsa-miR-4651	CLIP-seq
MIRT1010496	hsa-miR-4664-5p	CLIP-seq
MIRT1010497	hsa-miR-4666-3p	CLIP-seq
MIRT1010498	hsa-miR-4666-5p	CLIP-seq
MIRT1010499	hsa-miR-4667-5p	CLIP-seq
MIRT1010535	hsa-miR-4680-3p	CLIP-seq
MIRT1010500	hsa-miR-4700-5p	CLIP-seq
MIRT1010504	hsa-miR-4778-5p	CLIP-seq
MIRT1010536	hsa-miR-4797-3p	CLIP-seq
MIRT1010505	hsa-miR-4802-3p	CLIP-seq
MIRT1010537	hsa-miR-495	CLIP-seq
MIRT1010538	hsa-miR-499-3p	CLIP-seq
MIRT1010539	hsa-miR-499a-3p	CLIP-seq
MIRT1010540	hsa-miR-548o	CLIP-seq
MIRT1010541	hsa-miR-568	CLIP-seq
MIRT1010513	hsa-miR-589	CLIP-seq
MIRT1010514	hsa-miR-608	CLIP-seq
MIRT1010515	hsa-miR-637	CLIP-seq
MIRT1010542	hsa-miR-875-3p	CLIP-seq
MIRT1010521	hsa-miR-943	CLIP-seq
MIRT1999256	hsa-miR-216a	CLIP-seq
MIRT1999257	hsa-miR-302a	CLIP-seq
MIRT1999258	hsa-miR-302b	CLIP-seq
MIRT1999259	hsa-miR-302c	CLIP-seq
MIRT1999260	hsa-miR-302d	CLIP-seq
MIRT1999261	hsa-miR-302e	CLIP-seq
MIRT1010527	hsa-miR-3074-3p	CLIP-seq
MIRT1010468	hsa-miR-3148	CLIP-seq
MIRT1999262	hsa-miR-361-5p	CLIP-seq
MIRT1010473	hsa-miR-3688-3p	CLIP-seq
MIRT1999263	hsa-miR-3689a-3p	CLIP-seq
MIRT1999264	hsa-miR-3689c	CLIP-seq
MIRT1999265	hsa-miR-372	CLIP-seq
MIRT1999266	hsa-miR-373	CLIP-seq
MIRT1999267	hsa-miR-4261	CLIP-seq
MIRT1999268	hsa-miR-4328	CLIP-seq
MIRT1999269	hsa-miR-452	CLIP-seq
MIRT1010492	hsa-miR-4536	CLIP-seq
MIRT1010497	hsa-miR-4666-3p	CLIP-seq
MIRT1999270	hsa-miR-4676-3p	CLIP-seq
MIRT1999271	hsa-miR-4762-5p	CLIP-seq
MIRT1999272	hsa-miR-4778-3p	CLIP-seq
MIRT1010505	hsa-miR-4802-3p	CLIP-seq
MIRT1010507	hsa-miR-485-3p	CLIP-seq
MIRT1010508	hsa-miR-488	CLIP-seq
MIRT1999273	hsa-miR-519a	CLIP-seq
MIRT1999274	hsa-miR-519b-3p	CLIP-seq
MIRT1999275	hsa-miR-519c-3p	CLIP-seq
MIRT1999276	hsa-miR-520a-3p	CLIP-seq
MIRT1999277	hsa-miR-520b	CLIP-seq
MIRT1999278	hsa-miR-520c-3p	CLIP-seq
MIRT1999279	hsa-miR-520d-3p	CLIP-seq
MIRT1999280	hsa-miR-520e	CLIP-seq
MIRT1010517	hsa-miR-664	CLIP-seq
MIRT1010474	hsa-miR-371-5p	CLIP-seq
MIRT1010477	hsa-miR-3926	CLIP-seq
MIRT1010506	hsa-miR-483-3p	CLIP-seq
MIRT1010511	hsa-miR-548s	CLIP-seq
MIRT1010518	hsa-miR-888	CLIP-seq
MIRT2232948	hsa-miR-128	CLIP-seq
MIRT2536619	hsa-miR-101	CLIP-seq
MIRT2536620	hsa-miR-1299	CLIP-seq
MIRT2536621	hsa-miR-139-5p	CLIP-seq
MIRT1010460	hsa-miR-15a	CLIP-seq
MIRT1010461	hsa-miR-15b	CLIP-seq
MIRT1010462	hsa-miR-16	CLIP-seq
MIRT1010463	hsa-miR-195	CLIP-seq
MIRT1999256	hsa-miR-216a	CLIP-seq
MIRT1010466	hsa-miR-3134	CLIP-seq
MIRT1010469	hsa-miR-3152-3p	CLIP-seq
MIRT1010473	hsa-miR-3688-3p	CLIP-seq
MIRT1010474	hsa-miR-371-5p	CLIP-seq
MIRT2536622	hsa-miR-371b-5p	CLIP-seq
MIRT2536623	hsa-miR-377	CLIP-seq
MIRT2536624	hsa-miR-3978	CLIP-seq
MIRT1010479	hsa-miR-424	CLIP-seq
MIRT1010481	hsa-miR-4302	CLIP-seq
MIRT2536625	hsa-miR-4315	CLIP-seq
MIRT2536626	hsa-miR-4327	CLIP-seq
MIRT2536627	hsa-miR-433	CLIP-seq
MIRT1010484	hsa-miR-4426	CLIP-seq
MIRT1010490	hsa-miR-4524	CLIP-seq
MIRT2536628	hsa-miR-4528	CLIP-seq
MIRT1010491	hsa-miR-4534	CLIP-seq
MIRT1010493	hsa-miR-4647	CLIP-seq
MIRT1010495	hsa-miR-4662b	CLIP-seq
MIRT2536629	hsa-miR-4672	CLIP-seq
MIRT2536630	hsa-miR-4700-3p	CLIP-seq
MIRT1010501	hsa-miR-4708-3p	CLIP-seq
MIRT1010502	hsa-miR-4709-3p	CLIP-seq
MIRT2536631	hsa-miR-4728-3p	CLIP-seq
MIRT1999271	hsa-miR-4762-5p	CLIP-seq
MIRT1010503	hsa-miR-4777-3p	CLIP-seq
MIRT2536632	hsa-miR-4782-5p	CLIP-seq
MIRT1010505	hsa-miR-4802-3p	CLIP-seq
MIRT1010506	hsa-miR-483-3p	CLIP-seq
MIRT1010509	hsa-miR-497	CLIP-seq
MIRT1010510	hsa-miR-503	CLIP-seq
MIRT2536633	hsa-miR-516b	CLIP-seq
MIRT2536634	hsa-miR-518a-5p	CLIP-seq
MIRT2536635	hsa-miR-527	CLIP-seq
MIRT1010516	hsa-miR-646	CLIP-seq
MIRT1010542	hsa-miR-875-3p	CLIP-seq
MIRT1010518	hsa-miR-888	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004336	Function	Galactosylceramidase activity	IBA
GO:0004336	Function	Galactosylceramidase activity	IDA	8281145, 8399327
GO:0004336	Function	Galactosylceramidase activity	IEA
GO:0004336	Function	Galactosylceramidase activity	ISS
GO:0004336	Function	Galactosylceramidase activity	TAS
GO:0005764	Component	Lysosome	IBA
GO:0005764	Component	Lysosome	IEA
GO:0005764	Component	Lysosome	TAS	7601472
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006665	Process	Sphingolipid metabolic process	IEA
GO:0006683	Process	Galactosylceramide catabolic process	IBA
GO:0006683	Process	Galactosylceramide catabolic process	IDA	8399327
GO:0006683	Process	Galactosylceramide catabolic process	IEA
GO:0006683	Process	Galactosylceramide catabolic process	IEA
GO:0006683	Process	Galactosylceramide catabolic process	ISS
GO:0016020	Component	Membrane	IEA
GO:0016042	Process	Lipid catabolic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0042552	Process	Myelination	IEA
GO:0043202	Component	Lysosomal lumen	TAS
GO:0046479	Process	Glycosphingolipid catabolic process	TAS

Other IDs

• MIM: 606890
• HGNC: 4115
• e!Ensembl: ENSG00000054983

Protein

• UniProt ID: P54803
• Protein name: Galactocerebrosidase (GALCERase) (EC 3.2.1.46) (Galactocerebroside beta-galactosidase) (Galactosylceramidase) (Galactosylceramide beta-galactosidase)
• Protein function: Hydrolyzes the galactose ester bonds of glycolipids such as galactosylceramide and galactosylsphingosine (PubMed:8281145, PubMed:8399327). Enzyme with very low activity responsible for the lysosomal catabolism of galactosylceramide, a major lipi
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02057	Glyco_hydro_59	55 → 349	Glycosyl hydrolase family 59	Family
  PF17387	Glyco_hydro_59M	357 → 473	Glycosyl hydrolase family 59 central domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in urine. Detected in testis, brain and placenta (at protein level). Detected in kidney and liver. {ECO:0000269|PubMed:8399327}.
• Sequence:

  MAEWLLSASWQRRAKAMTAAAGSAGRAAVPLLLCALLAPGGAYVLDDSDGLGREFDGIGA
  VSGGGATSRLLVNYPEPYRSQILDYLFKPNFGASLHILKVEIGGDGQTTDGTEPSHMHYA
  LDENYFRGYEWWLMKEAKKRNPNITLIGLPWSFPGWLGKGFDWPYVNLQLTAYYVVTWIV
  GAKRYHDLDIDYIGIWNERSYNANYIKILRKMLNYQGLQRVKIIASDNLWESISASMLLD
  AELFKVVDVIGAHYPGTHSAKDAKLTGKKLWSSEDFSTLNSDMGAGCWGRILNQNYINGY
  MTSTIAWNLVASYYEQLPYGRCGLMTAQEPWSGHYVVESPVWVSAHTTQFTQPGWYYLKT
  VGHLEKGGSYVALTDGLGNLTIIIETMSHKHSKCIRPFLPYFNVSQQFATFVLKGSFSEI
  PELQVWYTKLGKTSERFLFKQLDSLWLLDSDGSFTLSLHEDELFTLTTLTTGRKGSYPLP
  PKSQPFPSTYKDDFNVDYPFFSEAPNFADQTGVFEYFTNIEDPGEHHFTLRQVLNQRPIT
  WAADASNTISIIGDYNWTNLTIKCDVYIETPDTGGVFIAGRVNKGGILIRSARGIFFWIF
  ANGSYRVTGDLAGWIIYALGRVEVTAKKWYTLTLTIKGHFTSGMLNDKSLWTDIPVNFPK
  NGWAAIGTHSFEFAQFDNFLVEATR

• Sequence length: 685

Pathways

KEGG:

Sphingolipid metabolism
Metabolic pathways
Lysosome

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
Abnormal brain morphology	Likely pathogenic	rs1060499761	RCV000454130	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of the nervous system	Pathogenic	rs750524447	RCV001814080	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acute myeloid leukemia	Likely pathogenic	rs750881596	RCV005912601	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fabry disease	Likely pathogenic; Pathogenic	rs1886145312	RCV004545052	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Galactosylceramide beta-galactosidase deficiency	Likely pathogenic; Pathogenic	rs2140001660, rs1406731723, rs2139925729, rs1166863449, rs2139996044, rs2140016050, rs750881596, rs145580093, rs1336726861, rs751283440, rs2139956480, rs1886886241, rs2139754606, rs2139755093, rs2139758703, rs1887278169, rs1567019327, rs1173602413, rs2140016089, rs779864190, rs2139925832, rs2139941220, rs2139754775, rs780376041, rs754668472, rs1886499951, rs1162671660, rs1423625765, rs2140016243, rs2139961690, rs2139941367, rs750431739, rs1365632054, rs1886148366, rs2139961653, rs764757647, rs2139758786, rs2139769959, rs779701490, rs766762599, rs11623, rs2139769498, rs2139996434, rs1217139658, rs1472207768, rs1567014543, rs199710405, rs1555379669, rs2139941444, rs2139956734, rs2139951107, rs2139996377, rs2139758767, rs2139961448, rs1884498480, rs2139925574, rs2139769937, rs2139759522, rs2139961618, rs749597090, rs200378205, rs1887303860, rs2140001505, rs2139749699, rs2140001750, rs2139961576, rs2139956343, rs758557526, rs2139755114, rs1405488688, rs2139937977, rs1595215209, rs1884764754, rs2139941246, rs754732860, rs1887277350, rs2139956468, rs1885269233, rs2503316638, rs1884843673, rs2503449891, rs1158171614, rs2139963715, rs2503376348, rs2503363505, rs2503439925, rs2503354386, rs1555381559, rs2503362772, rs1885265714, rs2503519260, rs2503362968, rs2503518940, rs2503477336, rs752537626, rs748573754, rs749893889, rs771489305, rs786204454, rs750524447, rs766310671, rs786204618, rs761550284, rs374635469, rs1400447609, rs2503431601, rs2503519059, rs1887063180, rs370117160, rs780754563, rs121908010, rs1200665112, rs768745262, rs794727116, rs2503371759, rs771111145, rs755870379, rs1265628439, rs1397152875, rs775277935, rs1885230326, rs2503477272, rs2503341284, rs1217317914, rs1349405657, rs2503548183, rs954071713, rs2503548478, rs2503509690, rs2503500771, rs756690487, rs2503376595, rs2503376435, rs2503509293, rs2503547380, rs757799254, rs2503549007, rs1885132066, rs2139956292, rs2503362624, rs2503341192, rs780750448, rs2503519040, rs2503477376, rs2503519099, rs2503362565, rs138577661, rs2503334528, rs886039569, rs756352952, rs886042057, rs398607, rs2503334646, rs886043419, rs2503354229, rs2503440863, rs375867319, rs1886145706, rs387906954, rs2503340945, rs1235473172, rs2504189182, rs2503375681, rs1349512789, rs1376496659, rs2503476879, rs2503439741, rs2503363555, rs2503518878, rs749615956, rs2503477067, rs2503550047, rs2503548576, rs2503371935, rs2503371903, rs1478697086, rs2503430713, rs2503500594, rs1410766358, rs955287913, rs2503354731, rs2503528053, rs2503528244, rs2503449824, rs750448899, rs398123175, rs1885266215, rs906992891, rs1182199981, rs1168273921, rs1566993302, rs202131052, rs1057516453, rs1057516433, rs1057517033, rs200960659, rs1057517082, rs1057517372, rs1057516394, rs1057516270, rs1057517382, rs1057516469, rs1057516808, rs1057516642, rs776368825, rs968905231, rs1057517185, rs1057516632, rs1057516673, rs1057517187, rs1057516816, rs377274761, rs1057518843, rs1060499761, rs387906952, rs387906953, rs199847983, rs387906955, rs1555378538, rs1064793131, rs200532368, rs202135871, rs1009872980, rs1555384318, rs1555381439, rs1555381417, rs770485731, rs1555379355, rs1566974586, rs1555378701, rs1555383306, rs1240965365, rs959445153, rs1555384342, rs758685128, rs780972896, rs1555384382, rs749708827, rs1555383310, rs1555384335, rs1555377947, rs777955784, rs1555378534, rs746922378, rs1555383308, rs1555383517, rs1555383892, rs1555384380, rs1555384381, rs762034337, rs1555378562, rs1555381958, rs759511006, rs1555383679, rs1555383687, rs1555384360, rs1182103005, rs766007316, rs751975987, rs757407613, rs997021099, rs745620101, rs1595236714, rs1595190129, rs1595246385, rs1884845930, rs769433488, rs1886890531, rs1458925593, rs746507078, rs1886145312, rs1436074042, rs1886976159, rs1887064841, rs1884765073, rs372621124, rs1886496591, rs1885229622, rs373077659, rs1885268471, rs767236077, rs1337518083, rs2503340730, rs398123177, rs1885138493	RCV001367963 RCV001377987 RCV001377004 RCV001379734 RCV001378716 RCV001378544 RCV001378267 RCV001377131 RCV001384474 RCV001384547 RCV001387420 RCV001387029 RCV001383047 RCV001387975 RCV001383048 RCV001382729 RCV001383049 RCV001385409 RCV001391225 RCV001827515 RCV001726684 RCV001725853 RCV001730058 RCV001775350 RCV003772137 RCV002034564 RCV002034592 RCV002544261 RCV001806801 RCV001806306 RCV001806381 RCV001825318 RCV001989530 RCV002018966 RCV001957344 RCV001990721 RCV001941721 RCV001930569 RCV001996482 RCV001996330 RCV002050063 RCV001946730 RCV001970934 RCV001969662 RCV001972681 RCV001969329 RCV001916717 RCV001976360 RCV002025554 RCV001941051 RCV001883465 RCV001927481 RCV002007242 RCV002002401 RCV002022185 RCV002000076 RCV001957238 RCV001990996 RCV001995690 RCV002009679 RCV002037226 RCV001945809 RCV001939520 RCV001883164 RCV001913382 RCV001888937 RCV001910300 RCV001942265 RCV001953581 RCV002020771 RCV001963116 RCV001949560 RCV001956487 RCV001949562 RCV002023887 RCV001907761 RCV001986266 RCV002223160 RCV002250005 RCV003096205 RCV002283388 RCV002283423 RCV000174662 RCV002306516 RCV002309677 RCV002309932 RCV002309933 RCV002310017 RCV002307962 RCV002308360 RCV002306922 RCV002307087 RCV002307215 RCV002307232 RCV002310137 RCV002310205 RCV002308400 RCV000169344 RCV000169525 RCV000169377 RCV000169172 RCV000169089 RCV000169153 RCV000169413 RCV000169386 RCV000169212 RCV000169155 RCV003062647 RCV003058447 RCV003041211 RCV003058448 RCV003064235 RCV003081167 RCV000004022 RCV003069722 RCV003092374 RCV000173074 RCV000174663 RCV002615973 RCV000175531 RCV002637386 RCV002510737 RCV003106557 RCV003106266 RCV001059225 RCV002617150 RCV002618045 RCV002649925 RCV002750290 RCV002761005 RCV002810078 RCV002828314 RCV002835227 RCV002894188 RCV002863814 RCV000195270 RCV002876897 RCV002881340 RCV002880461 RCV002876829 RCV002872441 RCV002952965 RCV003009600 RCV003018245 RCV003017454 RCV003019983 RCV003027002 RCV003019873 RCV003047689 RCV003039552 RCV003056303 RCV000345880 RCV003222546 RCV000984177 RCV000285229 RCV000400667 RCV003229548 RCV003229550 RCV000405383 RCV003246684 RCV003459831 RCV000324608 RCV003324308 RCV003328087 RCV003340932 RCV003448829 RCV003486400 RCV003503463 RCV003502803 RCV003503482 RCV003503701 RCV003504298 RCV003504365 RCV003502010 RCV003502011 RCV003502012 RCV003502183 RCV003502450 RCV003502343 RCV003502344 RCV003503222 RCV003502456 RCV003503324 RCV003503340 RCV003503974 RCV003609596 RCV003610194 RCV003610092 RCV003610207 RCV003610435 RCV003610468 RCV003608995 RCV003608998 RCV003608985 RCV003609014 RCV003609072 RCV003609139 RCV003610732 RCV003837838 RCV003858528 RCV003873939 RCV004018236 RCV004585206 RCV000408648 RCV000411823 RCV000409588 RCV000410434 RCV000409892 RCV000410159 RCV000409116 RCV000410806 RCV000411089 RCV000411899 RCV000409313 RCV000410105 RCV000410081 RCV000412229 RCV000411117 RCV000410261 RCV000411607 RCV000411149 RCV000411282 RCV000409516 RCV000410838 RCV000410107 RCV000588587 RCV001198292 RCV000675127 RCV000023588 RCV000023589 RCV000023591 RCV000023593 RCV000023594 RCV000023595 RCV001851266 RCV000984178 RCV000590611 RCV000668258 RCV000666305 RCV000502588 RCV002527578 RCV000528992 RCV000539298 RCV005010565 RCV000680275 RCV000670363 RCV000665262 RCV000665486 RCV000672034 RCV000669432 RCV000674533 RCV000669874 RCV000669876 RCV000671876 RCV000671860 RCV000673851 RCV000673963 RCV000672459 RCV000670477 RCV000672310 RCV000673403 RCV000664672 RCV000673412 RCV000670467 RCV000665967 RCV000666177 RCV000668080 RCV000667306 RCV000668173 RCV000673659 RCV000665941 RCV000666184 RCV000665460 RCV000667088 RCV000665041 RCV000664820 RCV000668697 RCV000671072 RCV000667822 RCV000779148 RCV000781391 RCV000781395 RCV000806470 RCV000796371 RCV000795746 RCV000802627 RCV000989250 RCV000989251 RCV000989252 RCV000991305 RCV001062997 RCV001064405 RCV001038602 RCV001061371 RCV001070327 RCV001051364 RCV001873460 RCV001250794 RCV001195147 RCV001199004 RCV001219037 RCV001212476 RCV001209816 RCV001205721 RCV001231281 RCV001237593 RCV001253404 RCV001382298 RCV001390629 RCV003120521 RCV002246275 RCV005614380 RCV001290963	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GALC-related disorder	Pathogenic; Likely pathogenic	rs1336726861, rs756690487, rs200960659, rs751975987	RCV004757421 RCV004757158 RCV004757227 RCV004757281	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Incidental Discovery	Likely pathogenic; Pathogenic	rs1555383687	RCV005638114	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Likely pathogenic	rs759511006	RCV005901435	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic ataxia	Likely pathogenic; Pathogenic	rs867226993, rs1436074042	RCV001647255 RCV001644930	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMBLYOPIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL REGRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LEUKODYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NYSTAGMUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STATUS EPILEPTICUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STRABISMUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult Krabbe disease	Krabbe Disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	32677356	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	32661301	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	29481565		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	26617822		★☆☆☆☆ Found in Text Mining only
Central nervous system demyelination	Central Nervous System Demyelination	BEFREE	25236689		★☆☆☆☆ Found in Text Mining only
Central nervous system demyelination	Central Nervous System Demyelination	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	15534764		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	25101718		★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	28825628	Associate	★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	CLINVAR_DG	30209698		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Demyelinating Diseases	Demyelinating diseases	Pubtator	24297913, 31185936, 36113749, 36983059	Associate	★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating Diseases	BEFREE	31527255		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	29481565		★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental regression	Developmental regression	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Farber Lipogranulomatosis	Farber disease	BEFREE	31527255		★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	29894633		★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	35662258	Inhibit	★☆☆☆☆ Found in Text Mining only
Generalized glycogen storage disease of infants	Glycogen Storage Disease	BEFREE	29894633		★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	22073273, 25414181	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	22073273, 25943734		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Globoid cell leukodystrophy	Globoid Cell Leukodystrophy	BEFREE	10234611, 10448809, 10464649, 11074371, 11371512, 11461188, 11575606, 11814461, 1565214, 15707574, 15851012, 16435193, 16607461, 16645197, 16732552, 16759875, 1891085, 19217332, 19332366, 1971996, 20410102, 20418135, 20511539, 2079710, 20886637, 21070211, 21084719, 21280158, 21876145, 22704718, 22850681, 22859505, 22959700, 23276707, 23462331, 23620143, 23983033, 24297913, 24463171, 24463623, 24949445, 25236689, 25956830, 26108143, 26396125, 26459425, 26567009, 26795590, 26865610, 26915362, 26990139, 27025653, 27126738, 27557886, 27638585, 27638593, 27638598, 27638602, 27638606, 27638609, 27638612, 27638614, 27721144, 28000364, 28109651, 28579020, 28592445, 28598007, 29316812, 29433937, 29615819, 29623914, 29951496, 30176352, 30209698, 30546085, 30899093, 31100476, 31184217, 31185936, 31350907, 31439510, 5271165, 5538703, 6806321, 7316489, 7581365, 8297359, 85413, 8579588, 8595408, 8634707, 8661004, 8687180, 8769874, 8940268, 9005874, 9192853, 9266397, 9272171, 9371928, 9441867, 9875712		★☆☆☆☆ Found in Text Mining only
Globoid cell leukodystrophy	Globoid Cell Leukodystrophy	CLINVAR_DG	10234611, 10448809, 10464649, 10477434, 11151421, 12699861, 16607461, 16759875, 17579360, 19302934, 20135576, 20410102, 20886637, 21824559, 21876145, 22115770, 22520351, 22704718, 23128445, 23138179, 23197103, 23319190, 23430802, 23462331, 23509109, 23620143, 24252386, 24297913, 24913062, 25260228, 25265039, 26108647, 26795590, 26865610, 26915362, 27126738, 27442402, 27638593, 27638604, 27679535, 27780934, 27785412, 28547031, 28598007, 28600779, 28976722, 29120458, 30209698, 3362311, 8281145, 8595408, 8687180, 8786069, 8940268, 9005874, 9266397, 9272171, 9338580, 9371928		★☆☆☆☆ Found in Text Mining only
Globoid cell leukodystrophy	Globoid Cell Leukodystrophy	UNIPROT_DG	10234611, 10477434, 17579360, 20886637, 23462331, 8595408, 8786069, 8940268, 9272171		★☆☆☆☆ Found in Text Mining only
Globoid cell leukodystrophy	Globoid Cell Leukodystrophy	LHGDN	17579360		★☆☆☆☆ Found in Text Mining only
Globoid cell leukodystrophy	Globoid Cell Leukodystrophy	GENOMICS_ENGLAND_DG	20886637, 21070211, 24357685, 26915362, 27604308, 8297359		★☆☆☆☆ Found in Text Mining only
Globoid cell leukodystrophy	Globoid Cell Leukodystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	29894633		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	35662258	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	26617822		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	26617822	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	HPO_DG			★☆☆☆☆ Found in Text Mining only
Infantile Globoid Cell Leukodystrophy	Leukodystrophy	BEFREE	11371512, 14572137, 21824559, 23620143, 28109651, 31090922, 31527255, 7581365, 8634707		★☆☆☆☆ Found in Text Mining only
Infantile Globoid Cell Leukodystrophy	Leukodystrophy	ORPHANET_DG	23319190		★☆☆☆☆ Found in Text Mining only
Infantile Globoid Cell Leukodystrophy	Leukodystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Infantile Krabbe disease	Krabbe Disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	26192919		★☆☆☆☆ Found in Text Mining only
KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY	Krabbe Disease	BEFREE	14572137		★☆☆☆☆ Found in Text Mining only
Late-infantile/juvenile Krabbe disease	Krabbe Disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Late-Onset Globoid Cell Leukodystrophy	Leukodystrophy	BEFREE	17579360, 26915362, 28109651, 31185936, 7316489, 9005874		★☆☆☆☆ Found in Text Mining only
Late-Onset Globoid Cell Leukodystrophy	Leukodystrophy	ORPHANET_DG	23319190		★☆☆☆☆ Found in Text Mining only
Late-Onset Globoid Cell Leukodystrophy	Leukodystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	11461188, 14572137, 19332366, 28109651, 30176352		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukodystrophy	Leukodystrophy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	32951664	Associate	★☆☆☆☆ Found in Text Mining only
Leukodystrophy, Metachromatic	Metachromatic Leukodystrophy	BEFREE	27025653		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	34999780	Associate	★☆☆☆☆ Found in Text Mining only
Lipoidosis	Lipoidosis	BEFREE	1565214		★☆☆☆☆ Found in Text Mining only
Low Tension Glaucoma	Low Tension Glaucoma	BEFREE	25943734		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26617822	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	28714469		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	19447584		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	26617822		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	26617822		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26617822, 29758927		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	29481565		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	16435193		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASCAT_DG	24076602		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	BEFREE	28575206, 29623914		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	26178533		★☆☆☆☆ Found in Text Mining only
Neonatal hypoglycemia	Hypoglycemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26178533, 29758927		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	22258513	Stimulate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	24297913	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	10234611, 15851012, 21876145, 22850681, 30089515, 8595408		★☆☆☆☆ Found in Text Mining only
Niemann-Pick Diseases	Sphingomyelinase deficiency	BEFREE	29369793		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29758927		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	29369793, 29481565		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	29481565, 35181782	Associate	★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	29481565		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	18683247	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	29481565		★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	26915362, 9272171		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	10597190		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Strabismus	Strabismus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vision Disorders	Visual disorder	Pubtator	22073273	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin D Deficiency	BEFREE	25236689		★☆☆☆☆ Found in Text Mining only