SLC6A8 (solute carrier family 6 member 8)

Gene

• Entrez ID: 6535
• Gene name: Solute carrier family 6 member 8
• Gene symbol: SLC6A8
• Synonyms (NCBI Gene): CCDS1, CRT, CRT-1, CRT1, CRTR, CT1, CTR5
• Chromosome: X
• Chromosome location: Xq28
• Summary: The protein encoded by this gene is a plasma membrane protein whose function is to transport creatine into and out of cells. Defects in this gene can result in X-linked creatine deficiency syndrome. Multiple transcript variants encoding different isoforms

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2872524	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs80338739	CTT>-	Pathogenic, likely-pathogenic	Coding sequence variant, 5 prime UTR variant, inframe deletion
rs80338740	TTC>-	Pathogenic	Coding sequence variant, inframe deletion
rs122453113	C>T	Pathogenic	Coding sequence variant, stop gained
rs122453114	G>C	Pathogenic	Coding sequence variant, missense variant
rs122453116	C>G	Pathogenic	Coding sequence variant, missense variant
rs122453117	G>T	Pathogenic	Coding sequence variant, missense variant
rs122453118	C>G,T	Likely-benign, pathogenic, benign-likely-benign	Coding sequence variant, synonymous variant, missense variant
rs143916832	C>G,T	Benign-likely-benign, benign, pathogenic	Synonymous variant, stop gained, coding sequence variant
rs149024147	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs397515558	C>T	Pathogenic	Missense variant, coding sequence variant
rs397515559	C>T	Pathogenic	Missense variant, coding sequence variant
rs782433037	AAC>-	Pathogenic	Coding sequence variant, inframe deletion
rs782703394	T>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs886041471	GTGGTCTTCTCCATCCTGGGCTTC>-	Pathogenic	Inframe deletion, coding sequence variant
rs886041818	CGACCTCCTCCCGGCCTCCT>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041845	CTACTACTCGGCC>TTGACTACTACTACAG	Pathogenic	Inframe indel, stop gained, coding sequence variant
rs886042005	A>G	Pathogenic	Splice acceptor variant
rs1057520594	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1060502808	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064794836	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1064795351	GAGT>-	Likely-pathogenic	Coding sequence variant, splice donor variant, intron variant
rs1085308011	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1239466041	C>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs1557044165	G>A	Pathogenic	Splice acceptor variant
rs1557044442	TG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1557044569	GT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1557045066	T>C	Likely-pathogenic	Splice donor variant
rs1557045267	C>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1557045296	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1557045333	G>A	Pathogenic	Splice donor variant
rs1557045475	C>T	Pathogenic	Stop gained, coding sequence variant
rs1557045581	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1557045704	G>A	Pathogenic	Stop gained, coding sequence variant
rs1569539244	A>G	Pathogenic	Splice acceptor variant
rs1569539358	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1569539359	->A	Pathogenic	Coding sequence variant, stop gained
rs1569539381	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1569539437	TC>AG	Pathogenic	Coding sequence variant, missense variant
rs1569539439	TCGGCCAGCGGCACCACCCTGCTCTGGCAGGCCTTTTGGGAGTGCGTGGTGGTGGCCTGGGTGTACGGTAGGTCATGGCTGAGGGCTGGGCTGGGGGATGGTGGCGGGGAAGGCAGGTCTCCAGCTTGGCCCTCCCGCCTCACCTCGCCGCAGGAGCTGACCGCTTCATGGACGACATTGCCTGTATGATCGGGTACCGACCTTGCCCCTGGATGAAATGGTGCTGGTCCTTCTTCACCCCGCTGGTCTGCATGG	Pathogenic	Coding sequence variant, splice acceptor variant, intron variant, splice donor variant
rs1569539443	G>A	Pathogenic	Coding sequence variant, stop gained
rs1569539466	C>G	Pathogenic	Coding sequence variant, stop gained
rs1603214377	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1603215013	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1603215223	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1603216806	TTCTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1603217176	A>C	Pathogenic	Splice acceptor variant
rs1603217468	G>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant
rs1603217473	G>A	Pathogenic	Coding sequence variant, missense variant
rs1603217815	C>A	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT049670	hsa-miR-92a-3p	CLASH	23622248
MIRT048259	hsa-miR-196a-5p	CLASH	23622248
MIRT044490	hsa-miR-320a	CLASH	23622248
MIRT041648	hsa-miR-484	CLASH	23622248
MIRT036805	hsa-miR-877-3p	CLASH	23622248
MIRT036805	hsa-miR-877-3p	CLASH	23622248
MIRT699249	hsa-miR-3976	HITS-CLIP	23313552
MIRT699248	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT699247	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT699238	hsa-miR-4639-5p	HITS-CLIP	23313552
MIRT699246	hsa-miR-6782-3p	HITS-CLIP	23313552
MIRT699245	hsa-miR-3126-3p	HITS-CLIP	23313552
MIRT699244	hsa-miR-3128	HITS-CLIP	23313552
MIRT699242	hsa-miR-6868-5p	HITS-CLIP	23313552
MIRT699243	hsa-miR-4720-5p	HITS-CLIP	23313552
MIRT699241	hsa-miR-4799-3p	HITS-CLIP	23313552
MIRT699240	hsa-miR-5588-5p	HITS-CLIP	23313552
MIRT699239	hsa-miR-1256	HITS-CLIP	23313552
MIRT699238	hsa-miR-4639-5p	HITS-CLIP	23313552
MIRT653442	hsa-miR-5680	HITS-CLIP	23824327
MIRT036805	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT653441	hsa-miR-4448	HITS-CLIP	23824327
MIRT653440	hsa-miR-4437	HITS-CLIP	23824327
MIRT653439	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT653438	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT653436	hsa-miR-6780a-3p	HITS-CLIP	23824327
MIRT653437	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT653435	hsa-miR-4674	HITS-CLIP	23824327
MIRT653434	hsa-miR-1587	HITS-CLIP	23824327
MIRT653433	hsa-miR-3620-5p	HITS-CLIP	23824327
MIRT565587	hsa-miR-548c-3p	PAR-CLIP	20371350
MIRT565586	hsa-miR-4694-3p	PAR-CLIP	20371350
MIRT565585	hsa-miR-382-5p	PAR-CLIP	20371350
MIRT565584	hsa-miR-3174	PAR-CLIP	20371350
MIRT565583	hsa-miR-3688-3p	PAR-CLIP	20371350
MIRT565582	hsa-miR-3663-3p	PAR-CLIP	20371350
MIRT565581	hsa-miR-3148	PAR-CLIP	20371350
MIRT565580	hsa-miR-6124	PAR-CLIP	20371350
MIRT565579	hsa-miR-3606-5p	PAR-CLIP	20371350
MIRT565578	hsa-miR-921	PAR-CLIP	20371350
MIRT565577	hsa-miR-4477a	PAR-CLIP	20371350
MIRT565576	hsa-miR-3591-5p	PAR-CLIP	20371350
MIRT259385	hsa-miR-381-3p	PAR-CLIP	20371350
MIRT259388	hsa-miR-300	PAR-CLIP	20371350
MIRT259382	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT259381	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT546454	hsa-miR-340-5p	PAR-CLIP	20371350
MIRT259396	hsa-miR-3662	PAR-CLIP	20371350
MIRT259393	hsa-miR-3163	PAR-CLIP	20371350
MIRT259397	hsa-miR-548aj-5p	PAR-CLIP	20371350
MIRT259390	hsa-miR-548f-5p	PAR-CLIP	20371350
MIRT259391	hsa-miR-548g-5p	PAR-CLIP	20371350
MIRT259394	hsa-miR-548x-5p	PAR-CLIP	20371350
MIRT259387	hsa-miR-1468-3p	PAR-CLIP	20371350
MIRT259392	hsa-miR-513c-5p	PAR-CLIP	20371350
MIRT259395	hsa-miR-514b-5p	PAR-CLIP	20371350
MIRT546453	hsa-miR-6873-3p	PAR-CLIP	20371350
MIRT259400	hsa-miR-548aw	PAR-CLIP	20371350
MIRT409558	hsa-miR-4768-5p	PAR-CLIP	20371350
MIRT409559	hsa-miR-6833-3p	PAR-CLIP	20371350
MIRT259385	hsa-miR-381-3p	PAR-CLIP	21572407
MIRT259388	hsa-miR-300	PAR-CLIP	21572407
MIRT259382	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT259381	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT546454	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT259396	hsa-miR-3662	PAR-CLIP	21572407
MIRT259404	hsa-miR-7109-3p	PAR-CLIP	21572407
MIRT259393	hsa-miR-3163	PAR-CLIP	21572407
MIRT554172	hsa-miR-3121-5p	PAR-CLIP	21572407
MIRT259397	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT259390	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT259391	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT259394	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT259387	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT259402	hsa-miR-6791-3p	PAR-CLIP	21572407
MIRT259403	hsa-miR-6829-3p	PAR-CLIP	21572407
MIRT259392	hsa-miR-513c-5p	PAR-CLIP	21572407
MIRT259395	hsa-miR-514b-5p	PAR-CLIP	21572407
MIRT546453	hsa-miR-6873-3p	PAR-CLIP	21572407
MIRT259400	hsa-miR-548aw	PAR-CLIP	21572407
MIRT409558	hsa-miR-4768-5p	PAR-CLIP	21572407
MIRT409559	hsa-miR-6833-3p	PAR-CLIP	21572407
MIRT259385	hsa-miR-381-3p	PAR-CLIP	21572407
MIRT259388	hsa-miR-300	PAR-CLIP	21572407
MIRT259382	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT259381	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT546454	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT259396	hsa-miR-3662	PAR-CLIP	21572407
MIRT259393	hsa-miR-3163	PAR-CLIP	21572407
MIRT259397	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT259390	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT259391	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT259394	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT259387	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT259392	hsa-miR-513c-5p	PAR-CLIP	21572407
MIRT259395	hsa-miR-514b-5p	PAR-CLIP	21572407
MIRT546453	hsa-miR-6873-3p	PAR-CLIP	21572407
MIRT259400	hsa-miR-548aw	PAR-CLIP	21572407
MIRT409558	hsa-miR-4768-5p	PAR-CLIP	21572407
MIRT409559	hsa-miR-6833-3p	PAR-CLIP	21572407
MIRT731602	hsa-miR-27a-3p	Luciferase reporter assay	26913609
MIRT731602	hsa-miR-27a-3p	Luciferase reporter assay	26913609
MIRT731602	hsa-miR-27a-3p	Luciferase reporter assay	26913609
MIRT731602	hsa-miR-27a-3p	Luciferase reporter assay	26913609
MIRT731602	hsa-miR-27a-3p	Luciferase reporter assay	26913609
MIRT699249	hsa-miR-3976	HITS-CLIP	23313552
MIRT699248	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT699247	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT699238	hsa-miR-4639-5p	HITS-CLIP	23313552
MIRT699246	hsa-miR-6782-3p	HITS-CLIP	23313552
MIRT699245	hsa-miR-3126-3p	HITS-CLIP	23313552
MIRT699244	hsa-miR-3128	HITS-CLIP	23313552
MIRT699242	hsa-miR-6868-5p	HITS-CLIP	23313552
MIRT699243	hsa-miR-4720-5p	HITS-CLIP	23313552
MIRT699241	hsa-miR-4799-3p	HITS-CLIP	23313552
MIRT699240	hsa-miR-5588-5p	HITS-CLIP	23313552
MIRT699239	hsa-miR-1256	HITS-CLIP	23313552
MIRT699238	hsa-miR-4639-5p	HITS-CLIP	23313552
MIRT653442	hsa-miR-5680	HITS-CLIP	23824327
MIRT036805	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT653441	hsa-miR-4448	HITS-CLIP	23824327
MIRT653440	hsa-miR-4437	HITS-CLIP	23824327
MIRT653439	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT653438	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT653436	hsa-miR-6780a-3p	HITS-CLIP	23824327
MIRT653437	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT653435	hsa-miR-4674	HITS-CLIP	23824327
MIRT653434	hsa-miR-1587	HITS-CLIP	23824327
MIRT653433	hsa-miR-3620-5p	HITS-CLIP	23824327
MIRT565587	hsa-miR-548c-3p	PAR-CLIP	20371350
MIRT565586	hsa-miR-4694-3p	PAR-CLIP	20371350
MIRT565585	hsa-miR-382-5p	PAR-CLIP	20371350
MIRT565584	hsa-miR-3174	PAR-CLIP	20371350
MIRT565583	hsa-miR-3688-3p	PAR-CLIP	20371350
MIRT565582	hsa-miR-3663-3p	PAR-CLIP	20371350
MIRT565581	hsa-miR-3148	PAR-CLIP	20371350
MIRT565580	hsa-miR-6124	PAR-CLIP	20371350
MIRT565579	hsa-miR-3606-5p	PAR-CLIP	20371350
MIRT565578	hsa-miR-921	PAR-CLIP	20371350
MIRT565577	hsa-miR-4477a	PAR-CLIP	20371350
MIRT565576	hsa-miR-3591-5p	PAR-CLIP	20371350
MIRT259385	hsa-miR-381-3p	PAR-CLIP	20371350
MIRT259388	hsa-miR-300	PAR-CLIP	20371350
MIRT259382	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT259381	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT546454	hsa-miR-340-5p	PAR-CLIP	20371350
MIRT259396	hsa-miR-3662	PAR-CLIP	20371350
MIRT259393	hsa-miR-3163	PAR-CLIP	20371350
MIRT259397	hsa-miR-548aj-5p	PAR-CLIP	20371350
MIRT259390	hsa-miR-548f-5p	PAR-CLIP	20371350
MIRT259391	hsa-miR-548g-5p	PAR-CLIP	20371350
MIRT259394	hsa-miR-548x-5p	PAR-CLIP	20371350
MIRT259387	hsa-miR-1468-3p	PAR-CLIP	20371350
MIRT259392	hsa-miR-513c-5p	PAR-CLIP	20371350
MIRT259395	hsa-miR-514b-5p	PAR-CLIP	20371350
MIRT546453	hsa-miR-6873-3p	PAR-CLIP	20371350
MIRT259400	hsa-miR-548aw	PAR-CLIP	20371350
MIRT409558	hsa-miR-4768-5p	PAR-CLIP	20371350
MIRT409559	hsa-miR-6833-3p	PAR-CLIP	20371350
MIRT259385	hsa-miR-381-3p	PAR-CLIP	21572407
MIRT259388	hsa-miR-300	PAR-CLIP	21572407
MIRT259382	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT259381	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT546454	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT259396	hsa-miR-3662	PAR-CLIP	21572407
MIRT259404	hsa-miR-7109-3p	PAR-CLIP	21572407
MIRT259393	hsa-miR-3163	PAR-CLIP	21572407
MIRT554172	hsa-miR-3121-5p	PAR-CLIP	21572407
MIRT259397	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT259390	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT259391	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT259394	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT259387	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT259402	hsa-miR-6791-3p	PAR-CLIP	21572407
MIRT259403	hsa-miR-6829-3p	PAR-CLIP	21572407
MIRT259392	hsa-miR-513c-5p	PAR-CLIP	21572407
MIRT259395	hsa-miR-514b-5p	PAR-CLIP	21572407
MIRT546453	hsa-miR-6873-3p	PAR-CLIP	21572407
MIRT259400	hsa-miR-548aw	PAR-CLIP	21572407
MIRT409558	hsa-miR-4768-5p	PAR-CLIP	21572407
MIRT409559	hsa-miR-6833-3p	PAR-CLIP	21572407
MIRT259385	hsa-miR-381-3p	PAR-CLIP	21572407
MIRT259388	hsa-miR-300	PAR-CLIP	21572407
MIRT259382	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT259381	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT546454	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT259396	hsa-miR-3662	PAR-CLIP	21572407
MIRT259393	hsa-miR-3163	PAR-CLIP	21572407
MIRT259397	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT259390	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT259391	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT259394	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT259387	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT259392	hsa-miR-513c-5p	PAR-CLIP	21572407
MIRT259395	hsa-miR-514b-5p	PAR-CLIP	21572407
MIRT546453	hsa-miR-6873-3p	PAR-CLIP	21572407
MIRT259400	hsa-miR-548aw	PAR-CLIP	21572407
MIRT409558	hsa-miR-4768-5p	PAR-CLIP	21572407
MIRT409559	hsa-miR-6833-3p	PAR-CLIP	21572407
MIRT1366597	hsa-miR-3145-3p	CLIP-seq
MIRT1366598	hsa-miR-3199	CLIP-seq
MIRT1366599	hsa-miR-3654	CLIP-seq
MIRT1366600	hsa-miR-3689a-5p	CLIP-seq
MIRT1366601	hsa-miR-3689b	CLIP-seq
MIRT1366602	hsa-miR-3689e	CLIP-seq
MIRT1366603	hsa-miR-3689f	CLIP-seq
MIRT1366604	hsa-miR-3940-5p	CLIP-seq
MIRT1366605	hsa-miR-4507	CLIP-seq
MIRT1366606	hsa-miR-4515	CLIP-seq
MIRT1366607	hsa-miR-541	CLIP-seq
MIRT1366608	hsa-miR-542-3p	CLIP-seq
MIRT1366609	hsa-miR-654-5p	CLIP-seq
MIRT1366610	hsa-miR-2467-3p	CLIP-seq
MIRT1366611	hsa-miR-3158-3p	CLIP-seq
MIRT1366612	hsa-miR-3189-3p	CLIP-seq
MIRT1366598	hsa-miR-3199	CLIP-seq
MIRT1366599	hsa-miR-3654	CLIP-seq
MIRT1366613	hsa-miR-377	CLIP-seq
MIRT1366614	hsa-miR-4284	CLIP-seq
MIRT1366615	hsa-miR-4446-3p	CLIP-seq
MIRT1366606	hsa-miR-4515	CLIP-seq
MIRT1366616	hsa-miR-4688	CLIP-seq
MIRT1366617	hsa-miR-483-3p	CLIP-seq
MIRT1366618	hsa-miR-486-3p	CLIP-seq
MIRT1366619	hsa-miR-513a-5p	CLIP-seq
MIRT1366608	hsa-miR-542-3p	CLIP-seq
MIRT1366620	hsa-miR-548ag	CLIP-seq
MIRT1366621	hsa-miR-548ai	CLIP-seq
MIRT1366622	hsa-miR-555	CLIP-seq
MIRT1366623	hsa-miR-1254	CLIP-seq
MIRT1366624	hsa-miR-184	CLIP-seq
MIRT1366625	hsa-miR-1913	CLIP-seq
MIRT1366626	hsa-miR-216a	CLIP-seq
MIRT1366627	hsa-miR-221	CLIP-seq
MIRT1366628	hsa-miR-222	CLIP-seq
MIRT1366629	hsa-miR-2277-3p	CLIP-seq
MIRT1366630	hsa-miR-25	CLIP-seq
MIRT1366631	hsa-miR-3116	CLIP-seq
MIRT1366632	hsa-miR-3144-5p	CLIP-seq
MIRT1366633	hsa-miR-3153	CLIP-seq
MIRT1366612	hsa-miR-3189-3p	CLIP-seq
MIRT1366634	hsa-miR-3191	CLIP-seq
MIRT1366598	hsa-miR-3199	CLIP-seq
MIRT1366635	hsa-miR-32	CLIP-seq
MIRT1366636	hsa-miR-324-3p	CLIP-seq
MIRT1366637	hsa-miR-324-5p	CLIP-seq
MIRT1366638	hsa-miR-331-3p	CLIP-seq
MIRT1366639	hsa-miR-340	CLIP-seq
MIRT1366640	hsa-miR-363	CLIP-seq
MIRT1366599	hsa-miR-3654	CLIP-seq
MIRT1366641	hsa-miR-3669	CLIP-seq
MIRT1366642	hsa-miR-367	CLIP-seq
MIRT1366643	hsa-miR-3689d	CLIP-seq
MIRT1366644	hsa-miR-3690	CLIP-seq
MIRT1366645	hsa-miR-3714	CLIP-seq
MIRT1366613	hsa-miR-377	CLIP-seq
MIRT1366646	hsa-miR-4254	CLIP-seq
MIRT1366647	hsa-miR-4270	CLIP-seq
MIRT1366648	hsa-miR-4308	CLIP-seq
MIRT1366649	hsa-miR-4313	CLIP-seq
MIRT1366650	hsa-miR-4441	CLIP-seq
MIRT1366651	hsa-miR-4463	CLIP-seq
MIRT1366652	hsa-miR-4466	CLIP-seq
MIRT1366653	hsa-miR-4475	CLIP-seq
MIRT1366606	hsa-miR-4515	CLIP-seq
MIRT1366654	hsa-miR-4652-5p	CLIP-seq
MIRT1366655	hsa-miR-4672	CLIP-seq
MIRT1366656	hsa-miR-4749-3p	CLIP-seq
MIRT1366617	hsa-miR-483-3p	CLIP-seq
MIRT1366657	hsa-miR-491-5p	CLIP-seq
MIRT1366658	hsa-miR-513c	CLIP-seq
MIRT1366659	hsa-miR-519a	CLIP-seq
MIRT1366660	hsa-miR-519b-3p	CLIP-seq
MIRT1366661	hsa-miR-519c-3p	CLIP-seq
MIRT1366608	hsa-miR-542-3p	CLIP-seq
MIRT1366662	hsa-miR-548an	CLIP-seq
MIRT1366663	hsa-miR-548v	CLIP-seq
MIRT1366664	hsa-miR-659	CLIP-seq
MIRT1366665	hsa-miR-675	CLIP-seq
MIRT1366666	hsa-miR-92a	CLIP-seq
MIRT1366667	hsa-miR-92b	CLIP-seq
MIRT1366668	hsa-miR-940	CLIP-seq
MIRT1366598	hsa-miR-3199	CLIP-seq
MIRT1366599	hsa-miR-3654	CLIP-seq
MIRT1366606	hsa-miR-4515	CLIP-seq
MIRT1366608	hsa-miR-542-3p	CLIP-seq
MIRT2108759	hsa-miR-1184	CLIP-seq
MIRT2108760	hsa-miR-1231	CLIP-seq
MIRT1366623	hsa-miR-1254	CLIP-seq
MIRT2108761	hsa-miR-1909	CLIP-seq
MIRT2108762	hsa-miR-2052	CLIP-seq
MIRT1366610	hsa-miR-2467-3p	CLIP-seq
MIRT1366631	hsa-miR-3116	CLIP-seq
MIRT2108763	hsa-miR-3120-5p	CLIP-seq
MIRT2108764	hsa-miR-3140-3p	CLIP-seq
MIRT2108765	hsa-miR-3150a-3p	CLIP-seq
MIRT2108766	hsa-miR-3151	CLIP-seq
MIRT2108767	hsa-miR-3152-5p	CLIP-seq
MIRT1366611	hsa-miR-3158-3p	CLIP-seq
MIRT2108768	hsa-miR-3158-5p	CLIP-seq
MIRT2108769	hsa-miR-3160-5p	CLIP-seq
MIRT2108770	hsa-miR-3170	CLIP-seq
MIRT2108771	hsa-miR-3173-5p	CLIP-seq
MIRT2108772	hsa-miR-3175	CLIP-seq
MIRT1366612	hsa-miR-3189-3p	CLIP-seq
MIRT1366598	hsa-miR-3199	CLIP-seq
MIRT2108773	hsa-miR-342-5p	CLIP-seq
MIRT2108774	hsa-miR-361-3p	CLIP-seq
MIRT1366599	hsa-miR-3654	CLIP-seq
MIRT1366613	hsa-miR-377	CLIP-seq
MIRT2108775	hsa-miR-3907	CLIP-seq
MIRT2108776	hsa-miR-4283	CLIP-seq
MIRT1366615	hsa-miR-4446-3p	CLIP-seq
MIRT1366652	hsa-miR-4466	CLIP-seq
MIRT2108777	hsa-miR-4489	CLIP-seq
MIRT2108778	hsa-miR-4492	CLIP-seq
MIRT2108779	hsa-miR-4498	CLIP-seq
MIRT2108780	hsa-miR-4514	CLIP-seq
MIRT1366606	hsa-miR-4515	CLIP-seq
MIRT2108781	hsa-miR-4645-5p	CLIP-seq
MIRT2108782	hsa-miR-4656	CLIP-seq
MIRT2108783	hsa-miR-4664-5p	CLIP-seq
MIRT2108784	hsa-miR-4667-3p	CLIP-seq
MIRT2108785	hsa-miR-4673	CLIP-seq
MIRT1366616	hsa-miR-4688	CLIP-seq
MIRT2108786	hsa-miR-4692	CLIP-seq
MIRT2108787	hsa-miR-4713-5p	CLIP-seq
MIRT2108788	hsa-miR-4746-3p	CLIP-seq
MIRT2108789	hsa-miR-4774-3p	CLIP-seq
MIRT1366617	hsa-miR-483-3p	CLIP-seq
MIRT2108790	hsa-miR-512-5p	CLIP-seq
MIRT2108791	hsa-miR-548t	CLIP-seq
MIRT2108792	hsa-miR-578	CLIP-seq
MIRT2108793	hsa-miR-615-5p	CLIP-seq
MIRT2108794	hsa-miR-635	CLIP-seq
MIRT2108795	hsa-miR-668	CLIP-seq
MIRT1366665	hsa-miR-675	CLIP-seq
MIRT2108796	hsa-miR-762	CLIP-seq
MIRT2108797	hsa-miR-939	CLIP-seq
MIRT2332387	hsa-miR-135a	CLIP-seq
MIRT2332388	hsa-miR-135b	CLIP-seq
MIRT2332389	hsa-miR-138	CLIP-seq
MIRT2332390	hsa-miR-149	CLIP-seq
MIRT2108761	hsa-miR-1909	CLIP-seq
MIRT1366610	hsa-miR-2467-3p	CLIP-seq
MIRT2332391	hsa-miR-3064-5p	CLIP-seq
MIRT1366611	hsa-miR-3158-3p	CLIP-seq
MIRT2332392	hsa-miR-3160-3p	CLIP-seq
MIRT2108770	hsa-miR-3170	CLIP-seq
MIRT2332393	hsa-miR-3173-3p	CLIP-seq
MIRT1366612	hsa-miR-3189-3p	CLIP-seq
MIRT1366598	hsa-miR-3199	CLIP-seq
MIRT2332394	hsa-miR-342-3p	CLIP-seq
MIRT2108774	hsa-miR-361-3p	CLIP-seq
MIRT2332395	hsa-miR-3652	CLIP-seq
MIRT1366599	hsa-miR-3654	CLIP-seq
MIRT1366613	hsa-miR-377	CLIP-seq
MIRT2332396	hsa-miR-4257	CLIP-seq
MIRT1366614	hsa-miR-4284	CLIP-seq
MIRT2332397	hsa-miR-4299	CLIP-seq
MIRT2332398	hsa-miR-4428	CLIP-seq
MIRT2332399	hsa-miR-4430	CLIP-seq
MIRT1366615	hsa-miR-4446-3p	CLIP-seq
MIRT2332400	hsa-miR-4487	CLIP-seq
MIRT2332401	hsa-miR-4505	CLIP-seq
MIRT2108780	hsa-miR-4514	CLIP-seq
MIRT1366606	hsa-miR-4515	CLIP-seq
MIRT2108781	hsa-miR-4645-5p	CLIP-seq
MIRT2108782	hsa-miR-4656	CLIP-seq
MIRT2108784	hsa-miR-4667-3p	CLIP-seq
MIRT2108785	hsa-miR-4673	CLIP-seq
MIRT1366616	hsa-miR-4688	CLIP-seq
MIRT2108786	hsa-miR-4692	CLIP-seq
MIRT2108787	hsa-miR-4713-5p	CLIP-seq
MIRT2332402	hsa-miR-4792	CLIP-seq
MIRT1366617	hsa-miR-483-3p	CLIP-seq
MIRT1366618	hsa-miR-486-3p	CLIP-seq
MIRT2108790	hsa-miR-512-5p	CLIP-seq
MIRT1366619	hsa-miR-513a-5p	CLIP-seq
MIRT1366608	hsa-miR-542-3p	CLIP-seq
MIRT1366620	hsa-miR-548ag	CLIP-seq
MIRT1366621	hsa-miR-548ai	CLIP-seq
MIRT2108791	hsa-miR-548t	CLIP-seq
MIRT1366622	hsa-miR-555	CLIP-seq
MIRT2332403	hsa-miR-558	CLIP-seq
MIRT2108792	hsa-miR-578	CLIP-seq
MIRT2108793	hsa-miR-615-5p	CLIP-seq
MIRT2108794	hsa-miR-635	CLIP-seq
MIRT2108795	hsa-miR-668	CLIP-seq
MIRT2332404	hsa-miR-760	CLIP-seq
MIRT1366627	hsa-miR-221	CLIP-seq
MIRT1366628	hsa-miR-222	CLIP-seq
MIRT2459885	hsa-miR-320b	CLIP-seq
MIRT2459886	hsa-miR-320c	CLIP-seq
MIRT2459887	hsa-miR-320d	CLIP-seq
MIRT2459888	hsa-miR-4429	CLIP-seq
MIRT1366651	hsa-miR-4463	CLIP-seq
MIRT1366655	hsa-miR-4672	CLIP-seq
MIRT1366663	hsa-miR-548v	CLIP-seq
MIRT1366627	hsa-miR-221	CLIP-seq
MIRT1366628	hsa-miR-222	CLIP-seq
MIRT2459885	hsa-miR-320b	CLIP-seq
MIRT2459886	hsa-miR-320c	CLIP-seq
MIRT2459887	hsa-miR-320d	CLIP-seq
MIRT2459888	hsa-miR-4429	CLIP-seq
MIRT1366651	hsa-miR-4463	CLIP-seq
MIRT1366655	hsa-miR-4672	CLIP-seq
MIRT1366663	hsa-miR-548v	CLIP-seq
MIRT2108762	hsa-miR-2052	CLIP-seq
MIRT1366627	hsa-miR-221	CLIP-seq
MIRT1366628	hsa-miR-222	CLIP-seq
MIRT2108764	hsa-miR-3140-3p	CLIP-seq
MIRT2108767	hsa-miR-3152-5p	CLIP-seq
MIRT2459885	hsa-miR-320b	CLIP-seq
MIRT2459886	hsa-miR-320c	CLIP-seq
MIRT2459887	hsa-miR-320d	CLIP-seq
MIRT2459888	hsa-miR-4429	CLIP-seq
MIRT1366651	hsa-miR-4463	CLIP-seq
MIRT1366655	hsa-miR-4672	CLIP-seq
MIRT2108789	hsa-miR-4774-3p	CLIP-seq
MIRT1366663	hsa-miR-548v	CLIP-seq
MIRT1366627	hsa-miR-221	CLIP-seq
MIRT1366628	hsa-miR-222	CLIP-seq
MIRT2459885	hsa-miR-320b	CLIP-seq
MIRT2459886	hsa-miR-320c	CLIP-seq
MIRT2459887	hsa-miR-320d	CLIP-seq
MIRT2459888	hsa-miR-4429	CLIP-seq
MIRT1366651	hsa-miR-4463	CLIP-seq
MIRT1366655	hsa-miR-4672	CLIP-seq
MIRT1366663	hsa-miR-548v	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005308	Function	Creatine transmembrane transporter activity	NAS	8661037
GO:0005309	Function	Creatine:sodium symporter activity	IDA	7945388, 7953292, 9882430
GO:0005309	Function	Creatine:sodium symporter activity	IEA
GO:0005309	Function	Creatine:sodium symporter activity	IMP	17465020, 22644605, 25861866
GO:0005309	Function	Creatine:sodium symporter activity	ISS	25531585
GO:0005309	Function	Creatine:sodium symporter activity	TAS	7953292
GO:0005332	Function	Gamma-aminobutyric acid:sodium:chloride symporter activity	IBA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	22644605
GO:0005886	Component	Plasma membrane	TAS
GO:0006600	Process	Creatine metabolic process	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006836	Process	Neurotransmitter transport	IEA
GO:0006865	Process	Amino acid transport	IBA
GO:0006936	Process	Muscle contraction	TAS	8661155
GO:0015293	Function	Symporter activity	IEA
GO:0015812	Process	Gamma-aminobutyric acid transport	IEA
GO:0015881	Process	Creatine transmembrane transport	IMP	25861866
GO:0015881	Process	Creatine transmembrane transport	NAS	8661037
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	7953292
GO:0016324	Component	Apical plasma membrane	IDA	12433955
GO:0016324	Component	Apical plasma membrane	IEA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IBA

Other IDs

• MIM: 300036
• HGNC: 11055
• e!Ensembl: ENSG00000130821

Protein

• UniProt ID: P48029
• Protein name: Sodium- and chloride-dependent creatine transporter 1 (CT1) (Creatine transporter 1) (Solute carrier family 6 member 8)
• Protein function: Creatine:sodium symporter which mediates the uptake of creatine (PubMed:17465020, PubMed:22644605, PubMed:25861866, PubMed:7945388, PubMed:7953292, PubMed:9882430). Plays an important role in supplying creatine to the brain via the blood-brain b
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00209	SNF	52 → 583	Sodium:neurotransmitter symporter family	Family

• Tissue specificity: TISSUE SPECIFICITY: Predominantly expressed in skeletal muscle and kidney. Also found in brain, heart, colon, testis and prostate. {ECO:0000269|PubMed:7945388, ECO:0000269|PubMed:7953292}.
• Sequence:

  MAKKSAENGIYSVSGDEKKGPLIAPGPDGAPAKGDGPVGLGTPGGRLAVPPRETWTRQMD
  FIMSCVGFAVGLGNVWRFPYLCYKNGGGVFLIPYVLIALVGGIPIFFLEISLGQFMKAGS
  INVWNICPLFKGLGYASMVIVFYCNTYYIMVLAWGFYYLVKSFTTTLPWATCGHTWNTPD
  CVEIFRHEDCANASLANLTCDQLADRRSPVIEFWENKVLRLSGGLEVPGALNWEVTLCLL
  ACWVLVYFCVWKGVKSTGKIVYFTATFPYVVLVVLLVRGVLLPGALDGIIYYLKPDWSKL
  GSPQVWIDAGTQIFFSYAIGLGALTALGSYNRFNNNCYKDAIILALINSGTSFFAGFVVF
  SILGFMAAEQGVHISKVAESGPGLAFIAYPRAVTLMPVAPLWAALFFFMLLLLGLDSQFV
  GVEGFITGLLDLLPASYYFRFQREISVALCCALCFVIDLSMVTDGGMYVFQLFDYYSASG
  TTLLWQAFWECVVVAWVYGADRFMDDIACMIGYRPCPWMKWCWSFFTPLVCMGIFIFNVV
  YYEPLVYNNTYVYPWWGEAMGWAFALSSMLCVPLHLLGCLLRAKGTMAERWQHLTQPIWG
  LHHLEYRAQDADVRGLTTLTPVSESSKVVVVESVM

• Sequence length: 635

Pathways

Reactome:

Creatine 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 facial shape	Likely pathogenic	rs1557045296	RCV000626885	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Creatine transporter deficiency	Likely pathogenic; Pathogenic	rs2091437670, rs2148364156, rs2148363243, rs2148364124, rs2148364489, rs2148363006, rs1557044461, rs2091474617, rs2148363211, rs2148363723, rs2148363178, rs2148363661, rs2148361006, rs2148364395, rs2148361002, rs2148362786, rs2148363957, rs2148358457, rs2148361177, rs2148362976, rs2148363973, rs2148358474, rs2522168496, rs2522144724, rs782074069, rs2522166584, rs2148360995, rs1239466041, rs2522145322, rs2522158435, rs2522152124, rs2522163743, rs2522162742, rs2522158368, rs2522156636, rs2522156645, rs2522162048, rs2522162071, rs1064794836, rs2522165172, rs782433037, rs886041818, rs2522166482, rs2522168615, rs122453113, rs122453114, rs80338740, rs1569539359, rs1569539244, rs122453116, rs122453117, rs122453118, rs2522145845, rs2522156161, rs2522167571, rs2522168744, rs2522168753, rs2091467397, rs2522156087, rs2522162098, rs2522165418, rs2522165523, rs2522167369, rs2522156561, rs1569539466, rs2522169586, rs2522167771, rs1557045140, rs2522169971, rs782398727, rs2522167787, rs2522169864, rs2522163590, rs2522152542, rs2522166311, rs2522167692, rs868934708, rs1557044940, rs2522169987, rs2522170019, rs2522162557, rs2522156030, rs1557043789, rs2522145796, rs2522165328, rs2522165394, rs2522167459, rs11548960, rs2522166546, rs2522161767, rs2522146020, rs2522165130, rs2522158159, rs2522166345, rs2522166498, rs2522166710, rs2522167336, rs2522170128, rs2522144511, rs2522145985, rs80338739, rs1060502808, rs1557045581, rs1557044442, rs1557044569, rs1557045333, rs1557045267, rs1557045066, rs1557043770, rs1557045250, rs1569539443, rs1569539381, rs1569539358, rs1603216806, rs1603215223, rs1603215013, rs1603217468, rs1603217176, rs397515558, rs397515559, rs1603217473, rs1603216830, rs143916832, rs2091458828, rs2091455005, rs2091449037, rs2091469248, rs2091466607, rs2091473708, rs140601882, rs1557043855, rs2091467532	RCV001323525 RCV001374454 RCV001381299 RCV001391014 RCV001383303 RCV003512116 RCV003159211 RCV001754572 RCV001923263 RCV001951819 RCV001935738 RCV001874229 RCV001889577 RCV001891335 RCV001920126 RCV001938993 RCV001886066 RCV002222886 RCV002227731 RCV002246728 RCV002250393 RCV002271846 RCV003334068 RCV002282876 RCV002283355 RCV002284995 RCV002289362 RCV002465388 RCV002468792 RCV002720297 RCV002820713 RCV002867043 RCV003013702 RCV003019465 RCV003159279 RCV003159280 RCV003159281 RCV003159282 RCV003159283 RCV003226112 RCV000012471 RCV002519061 RCV003233457 RCV003236551 RCV000012462 RCV000012463 RCV000012464 RCV000012465 RCV000012467 RCV000012468 RCV000012469 RCV000012470 RCV003314508 RCV003314526 RCV003334336 RCV003334337 RCV003334338 RCV003334340 RCV003334342 RCV003334343 RCV003334344 RCV003334345 RCV003334346 RCV003388817 RCV003448518 RCV003472946 RCV003482176 RCV003482177 RCV003482178 RCV003482179 RCV003482180 RCV003482181 RCV003482182 RCV003512842 RCV003512956 RCV003625503 RCV003883230 RCV003991427 RCV003991429 RCV003991430 RCV003991431 RCV003991433 RCV003991434 RCV003991435 RCV003991438 RCV003991439 RCV003991443 RCV003991446 RCV003991447 RCV003991448 RCV003991449 RCV003991450 RCV003991453 RCV003991454 RCV003991455 RCV003991456 RCV003991457 RCV004573647 RCV004594810 RCV004595246 RCV000020635 RCV000472365 RCV000503193 RCV001851485 RCV002305500 RCV001844184 RCV000551024 RCV001803901 RCV000640934 RCV000640931 RCV000703298 RCV000705494 RCV000704541 RCV002305533 RCV001221369 RCV000786917 RCV000807177 RCV000821021 RCV000825014 RCV000851519 RCV000055918 RCV000055919 RCV000990970 RCV001009546 RCV001027537 RCV001066106 RCV001214605 RCV001210427 RCV001241124 RCV001226930 RCV001251109 RCV001262629 RCV001262444 RCV001263495	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs2148363006, rs122453113, rs1557045296, rs1557045250, rs2091475771	RCV001528192 RCV001257720 RCV000626885 RCV001255373 RCV001257719	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Low-set ears	Likely pathogenic	rs1557045296	RCV000626885	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic	rs2148363775	RCV001375028	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic	rs1557045296	RCV000626885	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SLC6A8-related disorder	Likely pathogenic	rs2522163590	RCV003919247	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs2148363243, rs2091474617	RCV005912630 RCV005920740	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL CREATINE DEFICIENCY SYNDROME 1	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ 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
Congenital cerebellar hypoplasia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Creatine deficiency syndrome 1	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CREATINE DEFICIENCY, X-LINKED	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Uncertain significance	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	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERNET ADDICTION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	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
Rhombencephalosynapsis	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	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
X-LINKED CREATINE TRANSPORTER DEFICIENCY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED INTELLECTUAL DISABILITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	31837008		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	27429017		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	26221725, 31171903		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	27465041		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of rectum	Adenocarcinoma Of Rectum	BEFREE	27672742		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	24597975		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	30246353, 30708133		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	29750173		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	29115893		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	29858023, 30864463		★☆☆☆☆ Found in Text Mining only
Apraxia, Verbal	Apraxia	BEFREE	17603797		★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	Pubtator	22713831	Associate	★☆☆☆☆ Found in Text Mining only
Arginine:Glycine Amidinotransferase Deficiency	Arginine-Glycine Amidinotransferase Deficiency	BEFREE	12889668, 15625559, 21308988		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28330662		★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	38243323	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	9630166, 9862695		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28330662		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	31811440		★☆☆☆☆ Found in Text Mining only
Atrioventricular Block	Atrioventricular block	BEFREE	30761919		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder	Attention Deficit Hyperactivity Disorder	BEFREE	24137762		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	24137762		★☆☆☆☆ 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	22543975	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	18461508		★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CTD_human_DG	18461508		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	22713831	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	28565882		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	28228150		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27788031, 29151967, 30404664, 31365118		★☆☆☆☆ Found in Text Mining only
Bulimia	Bulimia	BEFREE	29278718		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33356959	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28916844		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	31509615		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	28251724, 28846805, 29697764, 29915621, 31147194		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	30103017, 31109689		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	23578822		★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	BEFREE	30067866		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	23715898, 30217165		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	23715898, 30217165		★☆☆☆☆ Found in Text Mining only
Child Development Deviations	Development Disorder	CTD_human_DG	11326334		★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Specific	Development Disorder	CTD_human_DG	11326334		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	30382603		★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	27886920		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	27629147		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	30774324		★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	29384270, 31209903		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22276141		★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	29466958		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	23736534, 27338764, 27862715, 27886920, 28003221, 28383431, 28427578, 28653309, 28688704, 28846805, 29086228, 29151496, 29525386, 29625702, 29697764, 29797055, 30348145, 30592353, 31241241, 31350836, 31353158, 31359595, 31479745		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29578185		★☆☆☆☆ Found in Text Mining only
Creatine deficiency, X-linked	Creatine deficiency	CTD_human_DG	11326334, 12210795, 17465020		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Creatine deficiency, X-linked	Creatine deficiency	UNIPROT_DG	11898126, 12210795, 15154114, 17101918, 17465020, 23033978, 23660394, 24123876, 25861866		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Creatine deficiency, X-linked	Creatine deficiency	CLINVAR_DG	12210795, 15154114, 16601898, 16738945, 17465020, 19706062, 20602486, 21140503, 21836662, 21910234, 22644605, 23644449, 23660394, 25803912		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Creatine deficiency, X-linked	Creatine deficiency	BEFREE	12536364, 12889669, 15690373, 16086185, 16763899, 20501887, 20717164, 21308988, 22472424, 23644449, 24045174, 24140398, 24597975, 24789340, 24962355, 25044748, 25192512, 25861866, 26930002, 27466184, 28065824, 28758966, 30400883, 30885608, 31194545		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Creatine deficiency, X-linked	Creatine deficiency	GENOMICS_ENGLAND_DG	17101918, 17603797		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic Fibrosis	Cystic Fibrosis	BEFREE	11799280		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28064113		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	28727277		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	CTD_human_DG	11326334		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Development Disorder	BEFREE	24045174		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes	Diabetes	BEFREE	27862715, 29625702		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	27862715, 29625702		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28599667		★☆☆☆☆ Found in Text Mining only
Disruptive, Impulse Control, and Conduct Disorders	Impulse control disorder	BEFREE	28427578, 30874886		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10893433, 15154114, 15234334, 16738945, 20528887, 20846889, 23644449, 24137762, 24190795, 27081545, 28065824		★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	22472424		★☆☆☆☆ Found in Text Mining only
Endocarditis	Endocarditis	BEFREE	31151718		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	28938593, 29844817		★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	28228150		★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	30558019	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	17553121, 22713831	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	22713831, 24137762, 30885608		★☆☆☆☆ Found in Text Mining only
Epiretinal Membrane	Epiretinal Membrane	BEFREE	29115893		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	22214381, 27001344, 27429017, 28767597, 29343986, 30311162, 30447937, 30867781, 31222680		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	22214381, 27001344, 27429017, 28767597, 29343986, 30311162, 30447937, 30867781, 31222680		★☆☆☆☆ Found in Text Mining only
Esophagitis	Esophagitis	BEFREE	25784564		★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	BEFREE	29502232		★☆☆☆☆ Found in Text Mining only
Fecal Incontinence	Bowel incontinence	BEFREE	28304143		★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	15154114		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29374810		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29374810		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	29115893		★☆☆☆☆ Found in Text Mining only
Guanidinoacetate methyltransferase deficiency	Guanidinoacetate Methyltransferase Deficiency	BEFREE	12889668, 15625559, 21308988		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	28091874, 29256329, 29895020, 31109689		★☆☆☆☆ Found in Text Mining only
Heart Block	Heart Block	BEFREE	28863179		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	23736534, 27338764, 27862715, 28003221, 28383431, 28427578, 28653309, 28688704, 28846805, 29086228, 29151496, 29525386, 29625702, 29697764, 29797055, 30348145, 30592353, 31241241, 31350836, 31359595, 31479745		★☆☆☆☆ Found in Text Mining only
Heart valve disease	Cardiac valvular disease	BEFREE	29466958		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	30246353, 30708133		★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	29106577		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ileus	Ileus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	22751104, 29384270, 30067866, 31209903		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	11898126, 21267006, 21556832, 21910234, 27096572, 30400883, 31906484, 33356959	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	BEFREE	16738945, 17603797, 21267006, 21556832, 21910234, 22713831, 23234264, 23578822, 24140398, 27096572, 27466184, 28065824, 30400883, 30635645, 31038003		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	LHGDN	16738945		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	27604308		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ischemic cardiomyopathy	Ischemic myocardial dysfunction	BEFREE	29627954, 29697764, 31165517		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	11326334, 11898126	Associate	★☆☆☆☆ Found in Text Mining only
Left Bundle-Branch Block	Left Bundle-Branch Block	BEFREE	27885751, 27989791, 28416247, 28427578, 28608184, 28688704, 29064041, 29625702, 30538769, 31492516		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	34807526	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28676383, 29098144, 30062844, 31374039		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	28863179		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	29800456		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	28565882		★☆☆☆☆ Found in Text Mining only
Macular retinal edema	Macular edema	BEFREE	28266152		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	28091874, 29256329, 31109689		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27788031, 29151967, 30404664, 31365118		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	29844817		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	22214381, 27001344, 27429017, 28767597, 28893415, 29343986, 30311162, 30447937, 30867781, 31222680		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28916844		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	31509615		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30333867		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	14612551, 22385796, 23075580, 28013228, 28373447, 29052565, 29151227, 30053596, 31694438, 31721011, 31808397		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	19050968, 31118042		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	BEFREE	28960621		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25963547, 28304143, 28974414, 29478817, 30929105, 31171903, 31468151		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	23715898, 30217165		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	11326334, 15625559, 18392746, 21910234, 31656644		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28064113		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	16738945, 17603797, 22713831, 23578822		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation, X-Linked	Mental retardation	BEFREE	11898126, 15154114, 15690373, 16738945, 17465020, 22751104, 24137762		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	LHGDN	11898126, 15154114		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	CTD_human_DG	18350323		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	28383431		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	BEFREE	11898126, 21144783, 24137762		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	40702043	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	27757734		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	28329280		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	28055973, 28342002, 28515352, 28943965, 29100451, 29344223, 29389048, 29718841, 29885997, 30864463, 31200353, 31737097		★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22430888, 25601461, 26221725, 27572313, 27672742, 28034064, 28492521, 28621318, 28759121, 28894229, 28978067, 29217398, 29476017, 30053596, 30223802, 31048664, 31171903, 31516597		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	15668290, 25288151, 30612140		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	30635645		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Niemann-Pick Disease, Type C	Niemann-Pick Disease	BEFREE	29100451		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28034064, 29703705, 29858023, 29945024, 31809876		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	25963547, 29278718, 30382603		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	31509615		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30333867		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28261073		★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Childhood obesity	BEFREE	25963547		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	30484267		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	18461508		★☆☆☆☆ Found in Text Mining only
Piebaldism	Piebaldism	BEFREE	28228150		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	30138085		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	14612551, 22385796, 23075580, 28013228, 28373447, 29052565, 29151227, 30053596, 31694438, 31721011, 31808397		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	27510332, 28934968, 30181716, 30359718, 30901357, 31127991, 31229791, 31273449, 31373223, 31702618		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29578185		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	18985105		★☆☆☆☆ Found in Text Mining only
Rhegmatogenous retinal detachment	Rhegmatogenous retinal detachment	BEFREE	31129751		★☆☆☆☆ Found in Text Mining only
Right bundle branch block	Bundle Branch Block	BEFREE	30538769		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	11898126	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	22472424		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	29945024		★☆☆☆☆ Found in Text Mining only
Social Communication Disorder	Social Communication Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	BEFREE	27466184, 30635645		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	27429017		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	24907633, 28457536, 29477349, 30395362, 30922343, 31048664		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of oropharynx	Oropharyngeal carcinoma	BEFREE	30194767		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	30211118, 31749055		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	19050968, 31118042		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	28449713		★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	BEFREE	27629147, 27886920, 29030235, 29186401		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	18985105		★☆☆☆☆ Found in Text Mining only
Type II Mucolipidosis	Mucolipidosis	BEFREE	28427578, 30874886		★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	29016821, 31241241		★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	BEFREE	27886920, 29186401		★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin d deficiency	Pubtator	30400883	Associate	★☆☆☆☆ Found in Text Mining only
X-linked creatine transporter deficiency	Creatine Transporter Deficiency, X-Linked	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations