KAT6B (lysine acetyltransferase 6B)

Gene

• Entrez ID: 23522
• Gene name: Lysine acetyltransferase 6B
• Gene symbol: KAT6B
• Synonyms (NCBI Gene): GTPTS, MORF, MOZ2, MYST4, ZC2HC6B, qkf, querkopf
• Disease Acronyms (UniProt): GTPTS
• Chromosome: 10
• Chromosome location: 10q22.2
• Summary: The protein encoded by this gene is a histone acetyltransferase and component of the MOZ/MORF protein complex. In addition to its acetyltransferase activity, the encoded protein has transcriptional activation activity in its N-terminal end and transcripti

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs886039742	G>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs886041540	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057516033	G>A	Pathogenic	Splice donor variant
rs1064796000	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064796095	TT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1383727273	C>T	Pathogenic	Stop gained, intron variant, coding sequence variant
rs1554835864	AAGA>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1554844486	GGGT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1564515829	G>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs1564516087	C>T	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant
rs1564628365	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1589750251	C>T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs1589831585	->CTTT	Pathogenic	Inframe indel, coding sequence variant, stop gained
rs1589832003	AACA>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016184	hsa-miR-590-3p	Sequencing	20371350
MIRT018713	hsa-miR-335-5p	Microarray	18185580
MIRT019652	hsa-miR-340-5p	Sequencing	20371350
MIRT036254	hsa-miR-1236-3p	CLASH	23622248
MIRT614954	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT614953	hsa-miR-4311	HITS-CLIP	23824327
MIRT230524	hsa-miR-4795-5p	HITS-CLIP	23824327
MIRT614952	hsa-miR-6831-3p	HITS-CLIP	23824327
MIRT614951	hsa-miR-4513	HITS-CLIP	23824327
MIRT614950	hsa-miR-6855-3p	HITS-CLIP	23824327
MIRT614949	hsa-miR-6857-3p	HITS-CLIP	23824327
MIRT614948	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT614947	hsa-miR-3118	HITS-CLIP	23824327
MIRT230522	hsa-miR-3616-5p	HITS-CLIP	23824327
MIRT230520	hsa-miR-573	HITS-CLIP	23824327
MIRT614946	hsa-miR-3136-5p	HITS-CLIP	23824327
MIRT614945	hsa-miR-4439	HITS-CLIP	23824327
MIRT614954	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT614953	hsa-miR-4311	HITS-CLIP	23824327
MIRT230524	hsa-miR-4795-5p	HITS-CLIP	23824327
MIRT614952	hsa-miR-6831-3p	HITS-CLIP	23824327
MIRT614951	hsa-miR-4513	HITS-CLIP	23824327
MIRT614950	hsa-miR-6855-3p	HITS-CLIP	23824327
MIRT614949	hsa-miR-6857-3p	HITS-CLIP	23824327
MIRT614948	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT614947	hsa-miR-3118	HITS-CLIP	23824327
MIRT230522	hsa-miR-3616-5p	HITS-CLIP	23824327
MIRT230520	hsa-miR-573	HITS-CLIP	23824327
MIRT614946	hsa-miR-3136-5p	HITS-CLIP	23824327
MIRT614945	hsa-miR-4439	HITS-CLIP	23824327
MIRT230524	hsa-miR-4795-5p	HITS-CLIP	23824327
MIRT614952	hsa-miR-6831-3p	HITS-CLIP	23824327
MIRT614951	hsa-miR-4513	HITS-CLIP	23824327
MIRT614950	hsa-miR-6855-3p	HITS-CLIP	23824327
MIRT614949	hsa-miR-6857-3p	HITS-CLIP	23824327
MIRT614948	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT614947	hsa-miR-3118	HITS-CLIP	23824327
MIRT230522	hsa-miR-3616-5p	HITS-CLIP	23824327
MIRT230520	hsa-miR-573	HITS-CLIP	23824327
MIRT614946	hsa-miR-3136-5p	HITS-CLIP	23824327
MIRT614945	hsa-miR-4439	HITS-CLIP	23824327
MIRT614954	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT614953	hsa-miR-4311	HITS-CLIP	23824327
MIRT230524	hsa-miR-4795-5p	HITS-CLIP	23824327
MIRT614952	hsa-miR-6831-3p	HITS-CLIP	23824327
MIRT614951	hsa-miR-4513	HITS-CLIP	23824327
MIRT614950	hsa-miR-6855-3p	HITS-CLIP	23824327
MIRT614949	hsa-miR-6857-3p	HITS-CLIP	23824327
MIRT614948	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT614947	hsa-miR-3118	HITS-CLIP	23824327
MIRT230522	hsa-miR-3616-5p	HITS-CLIP	23824327
MIRT230520	hsa-miR-573	HITS-CLIP	23824327
MIRT614946	hsa-miR-3136-5p	HITS-CLIP	23824327
MIRT614945	hsa-miR-4439	HITS-CLIP	23824327
MIRT614954	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT614954	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT614953	hsa-miR-4311	HITS-CLIP	23824327
MIRT230524	hsa-miR-4795-5p	HITS-CLIP	23824327
MIRT614952	hsa-miR-6831-3p	HITS-CLIP	23824327
MIRT614951	hsa-miR-4513	HITS-CLIP	23824327
MIRT614950	hsa-miR-6855-3p	HITS-CLIP	23824327
MIRT614949	hsa-miR-6857-3p	HITS-CLIP	23824327
MIRT614948	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT614947	hsa-miR-3118	HITS-CLIP	23824327
MIRT230522	hsa-miR-3616-5p	HITS-CLIP	23824327
MIRT230520	hsa-miR-573	HITS-CLIP	23824327
MIRT614946	hsa-miR-3136-5p	HITS-CLIP	23824327
MIRT614945	hsa-miR-4439	HITS-CLIP	23824327
MIRT614954	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT614953	hsa-miR-4311	HITS-CLIP	23824327
MIRT230524	hsa-miR-4795-5p	HITS-CLIP	23824327
MIRT614952	hsa-miR-6831-3p	HITS-CLIP	23824327
MIRT614951	hsa-miR-4513	HITS-CLIP	23824327
MIRT614950	hsa-miR-6855-3p	HITS-CLIP	23824327
MIRT614949	hsa-miR-6857-3p	HITS-CLIP	23824327
MIRT614948	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT614947	hsa-miR-3118	HITS-CLIP	23824327
MIRT230522	hsa-miR-3616-5p	HITS-CLIP	23824327
MIRT230520	hsa-miR-573	HITS-CLIP	23824327
MIRT614946	hsa-miR-3136-5p	HITS-CLIP	23824327
MIRT614945	hsa-miR-4439	HITS-CLIP	23824327
MIRT614954	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT614953	hsa-miR-4311	HITS-CLIP	23824327
MIRT230524	hsa-miR-4795-5p	HITS-CLIP	23824327
MIRT614952	hsa-miR-6831-3p	HITS-CLIP	23824327
MIRT614951	hsa-miR-4513	HITS-CLIP	23824327
MIRT614950	hsa-miR-6855-3p	HITS-CLIP	23824327
MIRT614949	hsa-miR-6857-3p	HITS-CLIP	23824327
MIRT614948	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT614947	hsa-miR-3118	HITS-CLIP	23824327
MIRT230522	hsa-miR-3616-5p	HITS-CLIP	23824327
MIRT230520	hsa-miR-573	HITS-CLIP	23824327
MIRT614946	hsa-miR-3136-5p	HITS-CLIP	23824327
MIRT614945	hsa-miR-4439	HITS-CLIP	23824327
MIRT230524	hsa-miR-4795-5p	HITS-CLIP	23824327
MIRT614952	hsa-miR-6831-3p	HITS-CLIP	23824327
MIRT614951	hsa-miR-4513	HITS-CLIP	23824327
MIRT614950	hsa-miR-6855-3p	HITS-CLIP	23824327
MIRT614949	hsa-miR-6857-3p	HITS-CLIP	23824327
MIRT614948	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT614947	hsa-miR-3118	HITS-CLIP	23824327
MIRT230522	hsa-miR-3616-5p	HITS-CLIP	23824327
MIRT230520	hsa-miR-573	HITS-CLIP	23824327
MIRT614946	hsa-miR-3136-5p	HITS-CLIP	23824327
MIRT614945	hsa-miR-4439	HITS-CLIP	23824327
MIRT614954	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT614953	hsa-miR-4311	HITS-CLIP	23824327
MIRT230524	hsa-miR-4795-5p	HITS-CLIP	23824327
MIRT614952	hsa-miR-6831-3p	HITS-CLIP	23824327
MIRT614951	hsa-miR-4513	HITS-CLIP	23824327
MIRT614950	hsa-miR-6855-3p	HITS-CLIP	23824327
MIRT614949	hsa-miR-6857-3p	HITS-CLIP	23824327
MIRT614948	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT614947	hsa-miR-3118	HITS-CLIP	23824327
MIRT230522	hsa-miR-3616-5p	HITS-CLIP	23824327
MIRT230520	hsa-miR-573	HITS-CLIP	23824327
MIRT614946	hsa-miR-3136-5p	HITS-CLIP	23824327
MIRT614945	hsa-miR-4439	HITS-CLIP	23824327
MIRT614954	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT614954	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT614953	hsa-miR-4311	HITS-CLIP	23824327
MIRT230524	hsa-miR-4795-5p	HITS-CLIP	23824327
MIRT614952	hsa-miR-6831-3p	HITS-CLIP	23824327
MIRT614951	hsa-miR-4513	HITS-CLIP	23824327
MIRT614950	hsa-miR-6855-3p	HITS-CLIP	23824327
MIRT614949	hsa-miR-6857-3p	HITS-CLIP	23824327
MIRT614948	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT614947	hsa-miR-3118	HITS-CLIP	23824327
MIRT230522	hsa-miR-3616-5p	HITS-CLIP	23824327
MIRT230520	hsa-miR-573	HITS-CLIP	23824327
MIRT614946	hsa-miR-3136-5p	HITS-CLIP	23824327
MIRT614945	hsa-miR-4439	HITS-CLIP	23824327
MIRT1078810	hsa-miR-10a	CLIP-seq
MIRT1078811	hsa-miR-10b	CLIP-seq
MIRT1078812	hsa-miR-1197	CLIP-seq
MIRT1078813	hsa-miR-122	CLIP-seq
MIRT1078814	hsa-miR-1269	CLIP-seq
MIRT1078815	hsa-miR-1269b	CLIP-seq
MIRT1078816	hsa-miR-1283	CLIP-seq
MIRT1078817	hsa-miR-1287	CLIP-seq
MIRT1078818	hsa-miR-1288	CLIP-seq
MIRT1078819	hsa-miR-1291	CLIP-seq
MIRT1078820	hsa-miR-134	CLIP-seq
MIRT1078821	hsa-miR-137	CLIP-seq
MIRT1078822	hsa-miR-1976	CLIP-seq
MIRT1078823	hsa-miR-2113	CLIP-seq
MIRT1078824	hsa-miR-24	CLIP-seq
MIRT1078825	hsa-miR-300	CLIP-seq
MIRT1078826	hsa-miR-3138	CLIP-seq
MIRT1078827	hsa-miR-3140-3p	CLIP-seq
MIRT1078828	hsa-miR-3145-5p	CLIP-seq
MIRT1078829	hsa-miR-3148	CLIP-seq
MIRT1078830	hsa-miR-3159	CLIP-seq
MIRT1078831	hsa-miR-3160-5p	CLIP-seq
MIRT1078832	hsa-miR-3163	CLIP-seq
MIRT1078833	hsa-miR-3202	CLIP-seq
MIRT1078834	hsa-miR-323b-3p	CLIP-seq
MIRT1078835	hsa-miR-328	CLIP-seq
MIRT1078836	hsa-miR-3613-3p	CLIP-seq
MIRT1078837	hsa-miR-361-3p	CLIP-seq
MIRT1078838	hsa-miR-3620	CLIP-seq
MIRT1078839	hsa-miR-3647-5p	CLIP-seq
MIRT1078840	hsa-miR-370	CLIP-seq
MIRT1078841	hsa-miR-381	CLIP-seq
MIRT1078842	hsa-miR-3925-5p	CLIP-seq
MIRT1078843	hsa-miR-3975	CLIP-seq
MIRT1078844	hsa-miR-425	CLIP-seq
MIRT1078845	hsa-miR-4284	CLIP-seq
MIRT1078846	hsa-miR-4436a	CLIP-seq
MIRT1078847	hsa-miR-4464	CLIP-seq
MIRT1078848	hsa-miR-4501	CLIP-seq
MIRT1078849	hsa-miR-4515	CLIP-seq
MIRT1078850	hsa-miR-4517	CLIP-seq
MIRT1078851	hsa-miR-4520a-3p	CLIP-seq
MIRT1078852	hsa-miR-4666-3p	CLIP-seq
MIRT1078853	hsa-miR-4666-5p	CLIP-seq
MIRT1078854	hsa-miR-4668-5p	CLIP-seq
MIRT1078855	hsa-miR-4700-3p	CLIP-seq
MIRT1078856	hsa-miR-4731-3p	CLIP-seq
MIRT1078857	hsa-miR-4740-5p	CLIP-seq
MIRT1078858	hsa-miR-4747-5p	CLIP-seq
MIRT1078859	hsa-miR-4748	CLIP-seq
MIRT1078860	hsa-miR-4752	CLIP-seq
MIRT1078861	hsa-miR-4764-3p	CLIP-seq
MIRT1078862	hsa-miR-4773	CLIP-seq
MIRT1078863	hsa-miR-4789-5p	CLIP-seq
MIRT1078864	hsa-miR-4800-5p	CLIP-seq
MIRT1078865	hsa-miR-4801	CLIP-seq
MIRT1078866	hsa-miR-486-5p	CLIP-seq
MIRT1078867	hsa-miR-520d-5p	CLIP-seq
MIRT1078868	hsa-miR-524-5p	CLIP-seq
MIRT1078869	hsa-miR-544	CLIP-seq
MIRT1078870	hsa-miR-548c-3p	CLIP-seq
MIRT1078871	hsa-miR-552	CLIP-seq
MIRT1078872	hsa-miR-561	CLIP-seq
MIRT1078873	hsa-miR-577	CLIP-seq
MIRT1078874	hsa-miR-587	CLIP-seq
MIRT1078875	hsa-miR-624	CLIP-seq
MIRT1078876	hsa-miR-662	CLIP-seq
MIRT1078877	hsa-miR-877	CLIP-seq
MIRT1078820	hsa-miR-134	CLIP-seq
MIRT1078839	hsa-miR-3647-5p	CLIP-seq
MIRT1078820	hsa-miR-134	CLIP-seq
MIRT1078839	hsa-miR-3647-5p	CLIP-seq
MIRT1078810	hsa-miR-10a	CLIP-seq
MIRT1078811	hsa-miR-10b	CLIP-seq
MIRT2019660	hsa-miR-1228	CLIP-seq
MIRT1078816	hsa-miR-1283	CLIP-seq
MIRT1078817	hsa-miR-1287	CLIP-seq
MIRT1078820	hsa-miR-134	CLIP-seq
MIRT2019661	hsa-miR-203	CLIP-seq
MIRT1078823	hsa-miR-2113	CLIP-seq
MIRT1078825	hsa-miR-300	CLIP-seq
MIRT2019662	hsa-miR-302f	CLIP-seq
MIRT1078826	hsa-miR-3138	CLIP-seq
MIRT2019663	hsa-miR-338-5p	CLIP-seq
MIRT2019664	hsa-miR-33a	CLIP-seq
MIRT2019665	hsa-miR-33b	CLIP-seq
MIRT1078838	hsa-miR-3620	CLIP-seq
MIRT1078839	hsa-miR-3647-5p	CLIP-seq
MIRT2019666	hsa-miR-377	CLIP-seq
MIRT1078841	hsa-miR-381	CLIP-seq
MIRT2019667	hsa-miR-3910	CLIP-seq
MIRT1078842	hsa-miR-3925-5p	CLIP-seq
MIRT2019668	hsa-miR-3944-5p	CLIP-seq
MIRT2019669	hsa-miR-4269	CLIP-seq
MIRT2019670	hsa-miR-4307	CLIP-seq
MIRT2019671	hsa-miR-4484	CLIP-seq
MIRT2019672	hsa-miR-4509	CLIP-seq
MIRT2019673	hsa-miR-450b-5p	CLIP-seq
MIRT1078852	hsa-miR-4666-3p	CLIP-seq
MIRT1078853	hsa-miR-4666-5p	CLIP-seq
MIRT2019674	hsa-miR-4678	CLIP-seq
MIRT2019675	hsa-miR-4690-5p	CLIP-seq
MIRT2019676	hsa-miR-4693-5p	CLIP-seq
MIRT2019677	hsa-miR-4698	CLIP-seq
MIRT1078862	hsa-miR-4773	CLIP-seq
MIRT1078863	hsa-miR-4789-5p	CLIP-seq
MIRT1078866	hsa-miR-486-5p	CLIP-seq
MIRT2019678	hsa-miR-487b	CLIP-seq
MIRT2019679	hsa-miR-495	CLIP-seq
MIRT2019680	hsa-miR-507	CLIP-seq
MIRT1078867	hsa-miR-520d-5p	CLIP-seq
MIRT1078868	hsa-miR-524-5p	CLIP-seq
MIRT2019681	hsa-miR-548an	CLIP-seq
MIRT2019682	hsa-miR-548m	CLIP-seq
MIRT1078871	hsa-miR-552	CLIP-seq
MIRT2019683	hsa-miR-557	CLIP-seq
MIRT1078873	hsa-miR-577	CLIP-seq
MIRT2019684	hsa-miR-582-5p	CLIP-seq
MIRT1078813	hsa-miR-122	CLIP-seq
MIRT2019660	hsa-miR-1228	CLIP-seq
MIRT2251519	hsa-miR-1298	CLIP-seq
MIRT1078820	hsa-miR-134	CLIP-seq
MIRT2251520	hsa-miR-141	CLIP-seq
MIRT2251521	hsa-miR-200a	CLIP-seq
MIRT2019661	hsa-miR-203	CLIP-seq
MIRT1078823	hsa-miR-2113	CLIP-seq
MIRT1078826	hsa-miR-3138	CLIP-seq
MIRT2019664	hsa-miR-33a	CLIP-seq
MIRT2019665	hsa-miR-33b	CLIP-seq
MIRT1078839	hsa-miR-3647-5p	CLIP-seq
MIRT2019666	hsa-miR-377	CLIP-seq
MIRT2251522	hsa-miR-3977	CLIP-seq
MIRT2019670	hsa-miR-4307	CLIP-seq
MIRT2251523	hsa-miR-4480	CLIP-seq
MIRT2019673	hsa-miR-450b-5p	CLIP-seq
MIRT1078851	hsa-miR-4520a-3p	CLIP-seq
MIRT2251524	hsa-miR-4520b-3p	CLIP-seq
MIRT2251525	hsa-miR-4529-3p	CLIP-seq
MIRT2251526	hsa-miR-4642	CLIP-seq
MIRT1078852	hsa-miR-4666-3p	CLIP-seq
MIRT1078853	hsa-miR-4666-5p	CLIP-seq
MIRT2019676	hsa-miR-4693-5p	CLIP-seq
MIRT2019677	hsa-miR-4698	CLIP-seq
MIRT2251527	hsa-miR-4722-3p	CLIP-seq
MIRT2251528	hsa-miR-4802-3p	CLIP-seq
MIRT2251529	hsa-miR-501-3p	CLIP-seq
MIRT2251530	hsa-miR-502-3p	CLIP-seq
MIRT2019680	hsa-miR-507	CLIP-seq
MIRT2251531	hsa-miR-509-3p	CLIP-seq
MIRT2019683	hsa-miR-557	CLIP-seq
MIRT1078873	hsa-miR-577	CLIP-seq
MIRT2019684	hsa-miR-582-5p	CLIP-seq
MIRT2251532	hsa-miR-607	CLIP-seq
MIRT1078820	hsa-miR-134	CLIP-seq
MIRT1078827	hsa-miR-3140-3p	CLIP-seq
MIRT1078839	hsa-miR-3647-5p	CLIP-seq
MIRT1078853	hsa-miR-4666-5p	CLIP-seq
MIRT1078825	hsa-miR-300	CLIP-seq
MIRT1078841	hsa-miR-381	CLIP-seq
MIRT1078852	hsa-miR-4666-3p	CLIP-seq
MIRT1078810	hsa-miR-10a	CLIP-seq
MIRT1078811	hsa-miR-10b	CLIP-seq
MIRT2554817	hsa-miR-1182	CLIP-seq
MIRT1078812	hsa-miR-1197	CLIP-seq
MIRT1078813	hsa-miR-122	CLIP-seq
MIRT2554818	hsa-miR-1245b-5p	CLIP-seq
MIRT1078816	hsa-miR-1283	CLIP-seq
MIRT1078817	hsa-miR-1287	CLIP-seq
MIRT2251519	hsa-miR-1298	CLIP-seq
MIRT2251520	hsa-miR-141	CLIP-seq
MIRT2251521	hsa-miR-200a	CLIP-seq
MIRT2019661	hsa-miR-203	CLIP-seq
MIRT2554819	hsa-miR-2467-3p	CLIP-seq
MIRT1078825	hsa-miR-300	CLIP-seq
MIRT2554820	hsa-miR-3121-5p	CLIP-seq
MIRT2554821	hsa-miR-3123	CLIP-seq
MIRT1078826	hsa-miR-3138	CLIP-seq
MIRT1078827	hsa-miR-3140-3p	CLIP-seq
MIRT2554822	hsa-miR-3142	CLIP-seq
MIRT1078829	hsa-miR-3148	CLIP-seq
MIRT1078830	hsa-miR-3159	CLIP-seq
MIRT1078832	hsa-miR-3163	CLIP-seq
MIRT1078833	hsa-miR-3202	CLIP-seq
MIRT2019663	hsa-miR-338-5p	CLIP-seq
MIRT2554823	hsa-miR-340	CLIP-seq
MIRT1078836	hsa-miR-3613-3p	CLIP-seq
MIRT2554824	hsa-miR-3617	CLIP-seq
MIRT1078838	hsa-miR-3620	CLIP-seq
MIRT1078839	hsa-miR-3647-5p	CLIP-seq
MIRT2554825	hsa-miR-3667-3p	CLIP-seq
MIRT2554826	hsa-miR-3678-3p	CLIP-seq
MIRT2554827	hsa-miR-3688-3p	CLIP-seq
MIRT2554828	hsa-miR-374a	CLIP-seq
MIRT2554829	hsa-miR-374b	CLIP-seq
MIRT1078841	hsa-miR-381	CLIP-seq
MIRT2554830	hsa-miR-3908	CLIP-seq
MIRT2019667	hsa-miR-3910	CLIP-seq
MIRT2554831	hsa-miR-3919	CLIP-seq
MIRT1078842	hsa-miR-3925-5p	CLIP-seq
MIRT2554832	hsa-miR-3942-5p	CLIP-seq
MIRT2251522	hsa-miR-3977	CLIP-seq
MIRT2554833	hsa-miR-410	CLIP-seq
MIRT1078844	hsa-miR-425	CLIP-seq
MIRT2554834	hsa-miR-4297	CLIP-seq
MIRT2554835	hsa-miR-4304	CLIP-seq
MIRT2554836	hsa-miR-4321	CLIP-seq
MIRT2554837	hsa-miR-4328	CLIP-seq
MIRT1078846	hsa-miR-4436a	CLIP-seq
MIRT2554838	hsa-miR-4457	CLIP-seq
MIRT2019671	hsa-miR-4484	CLIP-seq
MIRT2019672	hsa-miR-4509	CLIP-seq
MIRT1078850	hsa-miR-4517	CLIP-seq
MIRT1078851	hsa-miR-4520a-3p	CLIP-seq
MIRT2554839	hsa-miR-4643	CLIP-seq
MIRT1078852	hsa-miR-4666-3p	CLIP-seq
MIRT1078853	hsa-miR-4666-5p	CLIP-seq
MIRT1078854	hsa-miR-4668-5p	CLIP-seq
MIRT2554840	hsa-miR-4684-5p	CLIP-seq
MIRT2554841	hsa-miR-4694-3p	CLIP-seq
MIRT2019677	hsa-miR-4698	CLIP-seq
MIRT1078855	hsa-miR-4700-3p	CLIP-seq
MIRT2554842	hsa-miR-4703-5p	CLIP-seq
MIRT2554843	hsa-miR-4705	CLIP-seq
MIRT2554844	hsa-miR-4719	CLIP-seq
MIRT2554845	hsa-miR-4728-3p	CLIP-seq
MIRT1078858	hsa-miR-4747-5p	CLIP-seq
MIRT2554846	hsa-miR-4766-3p	CLIP-seq
MIRT1078862	hsa-miR-4773	CLIP-seq
MIRT1078863	hsa-miR-4789-5p	CLIP-seq
MIRT2251528	hsa-miR-4802-3p	CLIP-seq
MIRT1078866	hsa-miR-486-5p	CLIP-seq
MIRT2019679	hsa-miR-495	CLIP-seq
MIRT2554847	hsa-miR-513b	CLIP-seq
MIRT1078867	hsa-miR-520d-5p	CLIP-seq
MIRT1078868	hsa-miR-524-5p	CLIP-seq
MIRT2554848	hsa-miR-548aa	CLIP-seq
MIRT2019681	hsa-miR-548an	CLIP-seq
MIRT1078871	hsa-miR-552	CLIP-seq
MIRT1078873	hsa-miR-577	CLIP-seq
MIRT2019684	hsa-miR-582-5p	CLIP-seq
MIRT2554849	hsa-miR-597	CLIP-seq
MIRT2554850	hsa-miR-610	CLIP-seq
MIRT1078875	hsa-miR-624	CLIP-seq
MIRT2554851	hsa-miR-641	CLIP-seq
MIRT2554852	hsa-miR-642b	CLIP-seq
MIRT2554853	hsa-miR-668	CLIP-seq
MIRT1078810	hsa-miR-10a	CLIP-seq
MIRT1078811	hsa-miR-10b	CLIP-seq
MIRT2554817	hsa-miR-1182	CLIP-seq
MIRT1078813	hsa-miR-122	CLIP-seq
MIRT2554818	hsa-miR-1245b-5p	CLIP-seq
MIRT1078816	hsa-miR-1283	CLIP-seq
MIRT1078817	hsa-miR-1287	CLIP-seq
MIRT1078819	hsa-miR-1291	CLIP-seq
MIRT2683176	hsa-miR-1305	CLIP-seq
MIRT2683177	hsa-miR-194	CLIP-seq
MIRT1078822	hsa-miR-1976	CLIP-seq
MIRT2019661	hsa-miR-203	CLIP-seq
MIRT2554819	hsa-miR-2467-3p	CLIP-seq
MIRT1078825	hsa-miR-300	CLIP-seq
MIRT2554820	hsa-miR-3121-5p	CLIP-seq
MIRT2554821	hsa-miR-3123	CLIP-seq
MIRT1078826	hsa-miR-3138	CLIP-seq
MIRT1078827	hsa-miR-3140-3p	CLIP-seq
MIRT2554822	hsa-miR-3142	CLIP-seq
MIRT1078829	hsa-miR-3148	CLIP-seq
MIRT1078830	hsa-miR-3159	CLIP-seq
MIRT1078832	hsa-miR-3163	CLIP-seq
MIRT1078833	hsa-miR-3202	CLIP-seq
MIRT1078835	hsa-miR-328	CLIP-seq
MIRT2019663	hsa-miR-338-5p	CLIP-seq
MIRT1078836	hsa-miR-3613-3p	CLIP-seq
MIRT2554824	hsa-miR-3617	CLIP-seq
MIRT1078838	hsa-miR-3620	CLIP-seq
MIRT1078839	hsa-miR-3647-5p	CLIP-seq
MIRT2683178	hsa-miR-3662	CLIP-seq
MIRT2554825	hsa-miR-3667-3p	CLIP-seq
MIRT2554826	hsa-miR-3678-3p	CLIP-seq
MIRT2554827	hsa-miR-3688-3p	CLIP-seq
MIRT1078840	hsa-miR-370	CLIP-seq
MIRT1078841	hsa-miR-381	CLIP-seq
MIRT2554830	hsa-miR-3908	CLIP-seq
MIRT2019667	hsa-miR-3910	CLIP-seq
MIRT2554831	hsa-miR-3919	CLIP-seq
MIRT1078842	hsa-miR-3925-5p	CLIP-seq
MIRT2554832	hsa-miR-3942-5p	CLIP-seq
MIRT2554833	hsa-miR-410	CLIP-seq
MIRT2554834	hsa-miR-4297	CLIP-seq
MIRT2554835	hsa-miR-4304	CLIP-seq
MIRT2554836	hsa-miR-4321	CLIP-seq
MIRT2554838	hsa-miR-4457	CLIP-seq
MIRT2019671	hsa-miR-4484	CLIP-seq
MIRT2019672	hsa-miR-4509	CLIP-seq
MIRT1078851	hsa-miR-4520a-3p	CLIP-seq
MIRT1078852	hsa-miR-4666-3p	CLIP-seq
MIRT1078853	hsa-miR-4666-5p	CLIP-seq
MIRT1078854	hsa-miR-4668-5p	CLIP-seq
MIRT2554841	hsa-miR-4694-3p	CLIP-seq
MIRT2019677	hsa-miR-4698	CLIP-seq
MIRT2554842	hsa-miR-4703-5p	CLIP-seq
MIRT2554844	hsa-miR-4719	CLIP-seq
MIRT2554845	hsa-miR-4728-3p	CLIP-seq
MIRT1078858	hsa-miR-4747-5p	CLIP-seq
MIRT2554846	hsa-miR-4766-3p	CLIP-seq
MIRT1078862	hsa-miR-4773	CLIP-seq
MIRT1078863	hsa-miR-4789-5p	CLIP-seq
MIRT2251528	hsa-miR-4802-3p	CLIP-seq
MIRT1078866	hsa-miR-486-5p	CLIP-seq
MIRT2019679	hsa-miR-495	CLIP-seq
MIRT2554847	hsa-miR-513b	CLIP-seq
MIRT1078867	hsa-miR-520d-5p	CLIP-seq
MIRT1078868	hsa-miR-524-5p	CLIP-seq
MIRT2683179	hsa-miR-548a-5p	CLIP-seq
MIRT2554848	hsa-miR-548aa	CLIP-seq
MIRT2683180	hsa-miR-548ab	CLIP-seq
MIRT2683181	hsa-miR-548ak	CLIP-seq
MIRT2019681	hsa-miR-548an	CLIP-seq
MIRT2683182	hsa-miR-548b-5p	CLIP-seq
MIRT2683183	hsa-miR-548c-5p	CLIP-seq
MIRT2683184	hsa-miR-548d-5p	CLIP-seq
MIRT2683185	hsa-miR-548h	CLIP-seq
MIRT2683186	hsa-miR-548i	CLIP-seq
MIRT2683187	hsa-miR-548j	CLIP-seq
MIRT2683188	hsa-miR-548n	CLIP-seq
MIRT2683189	hsa-miR-548t	CLIP-seq
MIRT2683190	hsa-miR-548w	CLIP-seq
MIRT2683191	hsa-miR-548y	CLIP-seq
MIRT1078871	hsa-miR-552	CLIP-seq
MIRT2683192	hsa-miR-559	CLIP-seq
MIRT1078873	hsa-miR-577	CLIP-seq
MIRT2554849	hsa-miR-597	CLIP-seq
MIRT2251532	hsa-miR-607	CLIP-seq
MIRT2554850	hsa-miR-610	CLIP-seq
MIRT1078875	hsa-miR-624	CLIP-seq
MIRT2554851	hsa-miR-641	CLIP-seq
MIRT2554853	hsa-miR-668	CLIP-seq
MIRT2683193	hsa-miR-802	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000786	Component	Nucleosome	NAS	10497217
GO:0003677	Function	DNA binding	IEA
GO:0003712	Function	Transcription coregulator activity	IBA	21873635
GO:0004402	Function	Histone acetyltransferase activity	IBA	21873635
GO:0004402	Function	Histone acetyltransferase activity	IDA	10497217
GO:0005515	Function	Protein binding	IPI	11965546
GO:0005634	Component	Nucleus	TAS	10497217
GO:0005654	Component	Nucleoplasm	TAS
GO:0006334	Process	Nucleosome assembly	NAS	10497217
GO:0006355	Process	Regulation of transcription, DNA-templated	NAS	10497217
GO:0008134	Function	Transcription factor binding	IDA	11965546
GO:0016407	Function	Acetyltransferase activity	IDA	11965546
GO:0016573	Process	Histone acetylation	IDA	11965546
GO:0042393	Function	Histone binding	IBA	21873635
GO:0043966	Process	Histone H3 acetylation	IBA	21873635
GO:0043966	Process	Histone H3 acetylation	IDA	16387653
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IBA	21873635
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IDA	10497217
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	10497217, 11965546
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA	21873635
GO:0046872	Function	Metal ion binding	IEA
GO:0070776	Component	MOZ/MORF histone acetyltransferase complex	IBA	21873635
GO:0070776	Component	MOZ/MORF histone acetyltransferase complex	IDA	16387653, 18794358

Other IDs

• MIM: 605880
• HGNC: 17582
• e!Ensembl: ENSG00000156650

Protein

• UniProt ID: Q8WYB5
• Protein name: Histone acetyltransferase KAT6B (EC 2.3.1.48) (Histone acetyltransferase MOZ2) (MOZ, YBF2/SAS3, SAS2 and TIP60 protein 4) (MYST-4) (Monocytic leukemia zinc finger protein-related factor)
• Protein function: Histone acetyltransferase which may be involved in both positive and negative regulation of transcription. Required for RUNX2-dependent transcriptional activation. May be involved in cerebral cortex development. Component of the MOZ/MORF complex
• PDB: 5U2J, 6OIE, 8E4V
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00628	PHD	271 → 320	PHD-finger	Domain
  PF17772	zf-MYST	717 → 771	MYST family zinc finger domain	Domain
  PF01853	MOZ_SAS	776 → 954	MOZ/SAS family	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed, with high levels in heart, pancreas, testis and ovary. {ECO:0000269|PubMed:10497217}.
• Sequence:

  MVKLANPLYTEWILEAIQKIKKQKQRPSEERICHAVSTSHGLDKKTVSEQLELSVQDGSV
  LKVTNKGLASYKDPDNPGRFSSVKPGTFPKSAKGSRGSCNDLRNVDWNKLLRRAIEGLEE
  PNGSSLKNIEKYLRSQSDLTSTTNNPAFQQRLRLGAKRAVNNGRLLKDGPQYRVNYGSLD
  GKGAPQYPSAFPSSLPPVSLLPHEKDQPRADPIPICSFCLGTKESNREKKPEELLSCADC
  GSSGHPSCLKFCPELTTNVKALRWQCIECKTCSACRVQGRNADNMLFCDSCDRGFHMECC
  DPPLSRMPKGMWICQVCRPKKKGRKLLHEKAAQIKRRYAKPIGRPKNKLKQRLLSVTSDE
  GSMNAFTGRGSPGRGQKTKVCTTPSSGHAASGKDSSSRLAVTDPTRPGATTKITTTSTYI
  SASTLKVNKKTKGLIDGLTKFFTPSPDGRRSRGEIIDFSKHYRPRKKVSQKQSCTSHVLA
  TGTTQKLKPPPSSLPPPTPISGQSPSSQKSSTATSSPSPQSSSSQCSVPSLSSLTTNSQL
  KALFDGLSHIYTTQGQSRKKGHPSYAPPKRMRRKTELSSTAKSKAHFFGKRDIRSRFISH
  SSSSSWGMARGSIFKAIAHFKRTTFLKKHRMLGRLKYKVTPQMGTPSPGKGSLTDGRIKP
  DQDDDTEIKINIKQESADVNVIGNKDVVTEEDLDVFKQAQELSWEKIECESGVEDCGRYP
  SVIEFGKYEIQTWYSSPYPQEYARLPKLYLCEFCLKYMKSKNILLRHSKKCGWFHPPANE
  IYRRKDLSVFEVDGNMSKIYCQNLCLLAKLFLDHKTLYYDVEPFLFYVLTKNDEKGCHLV
  GYFSKEKLCQQKYNVSCIMIMPQHQRQGFGRFLIDFSYLLSRREGQAGSPEKPLSDLGRL
  SYLAYWKSVILEYLYHHHERHISIKAISRATGMCPHDIATTLQHLHMIDKRDGRFVIIRR
  EKLILSHMEKLKTCSRANELDPDSLRWTPILISNAAVSEEEREAEKEAERLMEQASCWEK
  EEQEILSTRANSRQSPAKVQSKNKYLHSPESRPVTGERGQLLELSKESSEEEEEEEDEEE
  EEEEEEEEEDEEEEEEEEEEEEEENIQSSPPRLTKPQSVAIKRKRPFVLKKKRGRKRRRI
  NSSVTTETISETTEVLNEPFDNSDEERPMPQLEPTCEIEVEEDGRKPVLRKAFQHQPGKK
  RQTEEEEGKDNHCFKNADPCRNNMNDDSSNLKEGSKDNPEPLKCKQVWPKGTKRGLSKWR
  QNKERKTGFKLNLYTPPETPMEPDEQVTVEEQKETSEGKTSPSPIRIEEEVKETGEALLP
  QEENRREETCAPVSPNTSPGEKPEDDLIKPEEEEEEEEEEEEEEEEEEGEEEEGGGNVEK
  DPDGAKSQEKEEPEISTEKEDSARLDDHEEEEEEDEEPSHNEDHDADDEDDSHMESAEVE
  KEELPRESFKEVLENQETFLDLNVQPGHSNPEVLMDCGVDLTASCNSEPKELAGDPEAVP
  ESDEEPPPGEQAQKQDQKNSKEVDTEFKEGNPATMEIDSETVQAVQSLTQESSEQDDTFQ
  DCAETQEACRSLQNYTRADQSPQIATTLDDCQQSDHSSPVSSVHSHPGQSVRSVNSPSVP
  ALENSYAQISPDQSAISVPSLQNMETSPMMDVPSVSDHSQQVVDSGFSDLGSIESTTENY
  ENPSSYDSTMGGSICGNGSSQNSCSYSNLTSSSLTQSSCAVTQQMSNISGSCSMLQQTSI
  SSPPTCSVKSPQGCVVERPPSSSQQLAQCSMAANFTPPMQLAEIPETSNANIGLYERMGQ
  SDFGAGHYPQPSATFSLAKLQQLTNTLIDHSLPYSHSAAVTSYANSASLSTPLSNTGLVQ
  LSQSPHSVPGGPQAQATMTPPPNLTPPPMNLPPPLLQRNMAASNIGISHSQRLQTQIASK
  GHISMRTKSASLSPAAATHQSQIYGRSQTVAMQGPARTLTMQRGMNMSVNLMPAPAYNVN
  SVNMNMNTLNAMNGYSMSQPMMNSGYHSNHGYMNQTPQYPMQMQMGMMGTQPYAQQPMQT
  PPHGNMMYTAPGHHGYMNTGMSKQSLNGSYMRR

• Sequence length: 2073

Pathways

Reactome:

HATs acetylate histones

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933	26938784
Arthritis	Juvenile arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	19565504
Arthrogryposis multiplex congenita	Arthrogryposis	rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835, rs758105619, rs886041851, rs794727136, rs755239192, rs760715690, rs773952935, rs112610938, rs1057516676, rs1057516996, rs780022652, rs1057517399, rs1057517360, rs1057518353, rs1057517977, rs1064796311, rs779232987, rs775997446, rs1064797093, rs1064797094, rs1064797095, rs755500591, rs754272530, rs758247804, rs200731870, rs747179265, rs1553740233, rs776569219, rs375628303, rs775631800, rs781667543, rs1553548666, rs928945364, rs763364977, rs1458048713, rs1553883480, rs1472403020, rs1336053002, rs202048855, rs1197561990, rs755531536, rs1554112524, rs762133567, rs1553555882, rs934111355, rs1255744452, rs1366269616, rs1555734932, rs1553548207, rs752582527, rs1257495033, rs113525641, rs755863625, rs374929094, rs539819851, rs1366853918, rs1218073575, rs1553537512, rs1553552384, rs747564597, rs776059611, rs756726488, rs1357811155, rs1553939600, rs772009599, rs1255445731, rs1011425121, rs1553561697, rs1553551748, rs1553552413, rs760935667, rs1553603400, rs1302373559, rs1389892619, rs1553710982, rs757157808, rs1180339426, rs761964375, rs1235589246, rs1443738549, rs1553934586, rs1553934597, rs1553603437, rs749452641, rs1553904694, rs754369875, rs112517981, rs774495973, rs1428597732, rs746999970, rs113091511, rs1553603958, rs1553469502, rs770797137, rs1553608621, rs1159756073, rs776167256, rs778593702, rs1553601066, rs1553689774, rs760768475, rs1559296376, rs201636991, rs1559039815, rs748922882, rs772366030, rs1207534366, rs1259297878, rs762780413, rs1559360386, rs1559940778, rs760200697, rs1344099907, rs750900690, rs1559168230, rs746177326, rs761067911, rs1323364980, rs537560378, rs1319778592, rs1340063197, rs1577833924, rs750585238, rs1600470099, rs1575714905, rs1576203853, rs779909544, rs760124743, rs2096362304, rs1212374733, rs1490309743, rs767709270, rs1374971806, rs2096491549, rs2097886912, rs2099021112, rs2097758221, rs1474341248, rs925947627
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125
Blepharophimosis-mental retardation syndrome	Young Simpson syndrome, Blepharophimosis-intellectual disability syndrome, SBBYS type	rs80338758, rs199470479, rs199470483, rs199470468, rs199470476, rs199470477, rs199470482, rs387907361, rs387907362, rs387907364, rs199470484, rs281875199, rs199470480, rs863224883, rs886041207, rs1057516033, rs727503868, rs1085307941, rs1554843829, rs1556334969, rs1554845902, rs924532501, rs1556334519, rs1554843815, rs1554843880, rs751215527, rs1554845880, rs1589845386, rs1589824355, rs1589831585, rs1586692481, rs1586692548, rs1586692551, rs1586660370, rs1586657848, rs1586660381, rs1589842816	26938784, 22715153, 22077973
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
Cardiomyopathy	Cardiomyopathy, Dilated	rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377, rs2856655, rs587776700, rs387906397, rs137854607, rs28935197, rs199473684, rs121964858, rs74315379, rs74315380, rs104894724, rs104894727, rs104894728, rs104894729, rs104894730, rs121917760, rs267607125, rs104894503, rs267607155, rs267607156, rs121918597, rs121918600, rs28933979, rs121918070, rs76992529, rs111033559, rs111033560, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs3218714, rs121913637, rs121913638, rs121913641, rs121913642, rs121913651, rs267606911, rs267606908, rs730880850, rs61046466, rs57520892, rs28933091, rs28933092, rs28933093, rs121913008, rs121913003, rs121912996, rs121912997, rs193922680, rs387906875, rs199474703, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922683, rs193922668, rs386134243, rs267607578, rs36211723, rs193922390, rs193922672, rs193922697, rs387907267, rs45546039, rs387907218, rs397515870, rs397515893, rs397515894, rs397515903, rs397515905, rs375882485, rs397515907, rs397515912, rs397515916, rs397515925, rs397515926, rs397515934, rs397515937, rs397515943, rs397515944, rs397515947, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515973, rs397515974, rs397515977, rs376395543, rs397515979, rs397515982, rs397515990, rs397515991, rs397515992, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs373746463, rs397516019, rs397516023, rs397516029, rs397516031, rs397516037, rs397516040, rs397516042, rs397516044, rs397516049, rs397516057, rs397516059, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs397516082, rs397516083, rs397516088, rs397516089, rs397516103, rs397516123, rs397516127, rs371898076, rs397516132, rs397516142, rs3218716, rs397516154, rs397516161, rs397516165, rs397516170, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516248, rs397516252, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516269, rs397516347, rs397516349, rs397516352, rs397516353, rs397516355, rs397516356, rs397516357, rs397516364, rs397516370, rs397516371, rs397516373, rs397516386, rs397516406, rs397516454, rs397516456, rs397516461, rs397516463, rs397516464, rs45525839, rs397516471, rs45578238, rs111377893, rs397516607, rs62636495, rs397516784, rs397516881, rs397516913, rs397516915, rs397516927, rs397516940, rs397516943, rs397516945, rs397516955, rs397516956, rs397516973, rs397516986, rs397516989, rs372827156, rs397516992, rs397516993, rs397516994, rs397516997, rs397517003, rs397517008, rs397517010, rs397517012, rs397517021, rs397517065, rs397517547, rs397517576, rs397517580, rs397517584, rs397517586, rs397517587, rs397517589, rs397517601, rs397517620, rs397517624, rs397517626, rs397517628, rs72646831, rs397517633, rs397517643, rs72646846, rs397517664, rs397517679, rs397517689, rs397517695, rs397517696, rs397517698, rs397517721, rs397517735, rs397517741, rs397517749, rs397517750, rs397517758, rs397517776, rs397517787, rs397517830, rs397517887, rs397517888, rs397517889, rs58013325, rs397517895, rs56984562, rs267607646, rs58917027, rs267607594, rs397517904, rs61195471, rs60682848, rs267607573, rs397517908, rs58978449, rs397517909, rs267607593, rs397517911, rs56816490, rs397517915, rs267607554, rs397514742, rs886041395, rs397515482, rs267607490, rs58999456, rs267607555, rs61672878, rs267607618, rs267607577, rs57730570, rs267607582, rs267607581, rs61444459, rs59270054, rs61661343, rs267607570, rs59026483, rs267607571, rs59332535, rs199473161, rs398123262, rs869320740, rs606231324, rs587782927, rs201754030, rs58389804, rs587782958, rs587782961, rs587782962, rs587782986, rs138049878, rs376897125, rs368765949, rs111569862, rs727504247, rs727503537, rs727504535, rs727504550, rs727504679, rs727503546, rs730880365, rs727504646, rs727505014, rs727505288, rs727503557, rs727503559, rs730880343, rs727503615, rs727504825, rs727503565, rs727504655, rs727505352, rs727504466, rs727504531, rs727503567, rs371678190, rs727503586, rs727505319, rs727503547, rs727505076, rs727505224, rs727503552, rs727504856, rs727504782, rs727504660, rs557312035, rs727505284, rs727504851, rs727504589, rs727504499, rs727504843, rs727504452, rs727503697, rs150974575, rs727504498, rs727503598, rs727503602, rs727503607, rs727504801, rs727504738, rs727505115, rs727505283, rs727505109, rs727504271, rs727504321, rs727504289, rs727503172, rs727503180, rs727503182, rs727504265, rs727504334, rs727503192, rs397515932, rs727504287, rs200411226, rs727503204, rs727504269, rs367947846, rs730880335, rs727502897, rs727503166, rs111683277, rs727503195, rs727503203, rs727503212, rs727503738, rs727504381, rs727504356, rs727503261, rs727504238, rs148808089, rs45544633, rs727503246, rs397516171, rs727503253, rs202141173, rs727504310, rs727503258, rs727503260, rs727504320, rs727504240, rs727503263, rs727503269, rs727503278, rs727504432, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504379, rs727504389, rs727504275, rs727504557, rs727502994, rs727504184, rs730880336, rs730880362, rs730880199, rs730880246, rs72648265, rs730880243, rs730880242, rs730880241, rs574660186, rs730880245, rs730880082, rs730880092, rs730880093, rs730880055, rs397515939, rs730881119, rs397516020, rs730880675, rs730880719, rs730880672, rs730880671, rs730880718, rs730880666, rs730880717, rs730880655, rs730880715, rs730880654, rs730880714, rs730880651, rs730880648, rs730880713, rs730880546, rs730880695, rs730880533, rs730880531, rs730880639, rs730880689, rs730880686, rs730880629, rs368121566, rs375607980, rs730880704, rs730880698, rs730880750, rs730880748, rs730880875, rs730880845, rs1565623093, rs786204339, rs786204336, rs786204392, rs786204388, rs786204950, rs786204951, rs794727381, rs760576804, rs112188483, rs794728597, rs794728606, rs794728593, rs59564495, rs190140598, rs794728826, rs794728803, rs794728106, rs149701627, rs1554108152, rs770873593, rs794728124, rs141026028, rs794728094, rs794729098, rs794729116, rs764817683, rs751288871, rs201405287, rs794729137, rs794729133, rs766209297, rs767987619, rs769220833, rs794729120, rs112240298, rs748382770, rs794729365, rs794729301, rs757451467, rs794729359, rs794729354, rs794729353, rs794729285, rs794729284, rs794729338, rs794729332, rs368452607, rs794729278, rs794729325, rs794729324, rs754866489, rs794729265, rs751502842, rs794729320, rs794729380, rs748313513, rs797046064, rs863225113, rs863225106, rs761507504, rs864622224, rs1057515421, rs751039219, rs869025555, rs869025546, rs869025554, rs869025559, rs869025545, rs869025558, rs869025557, rs200797552, rs869025550, rs869025549, rs869025544, rs869025552, rs869025548, rs869025556, rs770029258, rs869025523, rs869025398, rs869025399, rs869025395, rs869025365, rs869025469, rs869025483, rs749838192, rs869312028, rs869312037, rs869312038, rs869312039, rs869312040, rs869312041, rs869312042, rs869312044, rs869312046, rs373040154, rs869312047, rs869312048, rs869312049, rs869312050, rs869312051, rs869312052, rs869312054, rs869312055, rs777602537, rs869312056, rs869312057, rs869312058, rs869312059, rs869312060, rs770038577, rs869312061, rs869312062, rs869312063, rs869312064, rs869312065, rs869312066, rs869312067, rs869312068, rs869312069, rs771562210, rs869312070, rs869312071, rs759231562, rs869312072, rs869312073, rs764243269, rs768345594, rs869312074, rs869312075, rs869312076, rs869312077, rs869312078, rs869312079, rs869312080, rs772121356, rs869312081, rs869312082, rs72648250, rs869312083, rs869312084, rs869312085, rs869312086, rs869312087, rs869312100, rs779129892, rs756367933, rs869312102, rs869312103, rs869312104, rs869312105, rs869312106, rs770767998, rs869312107, rs775186117, rs869312108, rs869312109, rs869312110, rs869312111, rs755261062, rs869312112, rs763824247, rs869312113, rs869312114, rs869312115, rs869312116, rs774604740, rs869312117, rs779996703, rs869312118, rs869312119, rs869312120, rs869312121, rs869312122, rs869312045, rs753948675, rs878854371, rs794728589, rs876657650, rs727503512, rs876658027, rs876657672, rs876657671, rs868494032, rs876657670, rs780512337, rs876657669, rs876657668, rs876657666, rs876657665, rs876657664, rs876657663, rs148894066, rs876657634, rs869248137, rs876657705, rs876657704, rs727503213, rs869025496, rs876657662, rs876657884, rs36211715, rs878855234, rs879255521, rs879255639, rs886038928, rs751746401, rs886039030, rs869038795, rs886039343, rs2069544, rs1114167341, rs1114167340, rs886041322, rs886042331, rs886043718, rs747662439, rs886043924, rs773840992, rs886044536, rs1057517903, rs754354190, rs779650200, rs902082118, rs1057518920, rs1057519457, rs1057523045, rs370072439, rs1064792916, rs1060500495, rs1060500575, rs926741242, rs774763657, rs746877365, rs1060500610, rs1060501484, rs1060501479, rs1064792928, rs1060501443, rs1060499604, rs1064793814, rs1064796347, rs977277400, rs1064793429, rs745811346, rs1064794350, rs1555142963, rs1064793983, rs769665204, rs751261054, rs769139957, rs1131691873, rs1131691655, rs1131691673, rs1464253797, rs1408345511, rs1553603152, rs1554398705, rs1322596650, rs1553539995, rs1553611989, rs749961489, rs1444727212, rs1243301263, rs971618751, rs1553662326, rs1389777522, rs764985774, rs1554108287, rs1554105911, rs1249913357, rs1554108012, rs111806457, rs1402879259, rs748416758, rs794727046, rs1425855043, rs869178171, rs1432810664, rs749465164, rs878898365, rs1419374180, rs770878165, rs1553503113, rs1553691320, rs1553577362, rs1553603456, rs1417036453, rs1553741321, rs1553479603, rs1553607425, rs974671846, rs1420159591, rs745688425, rs1554875409, rs1555144459, rs1555338080, rs1555338574, rs1555148035, rs200889953, rs1401116572, rs1285329277, rs974510652, rs1263987728, rs1555122928, rs992189342, rs1555142971, rs1553261855, rs1553265647, rs1553488049, rs1553644307, rs1553663867, rs1553940122, rs28763965, rs758891557, rs762110595, rs1555436118, rs1555435531, rs565910322, rs376766195, rs1562168768, rs763443331, rs1562169661, rs1370579526, rs1561703922, rs1564773559, rs1559003939, rs1559598775, rs1559415567, rs1559877046, rs776970935, rs553526525, rs1561698362, rs1561694696, rs1561702640, rs730880751, rs1060505018, rs766330686, rs1565631430, rs1565050320, rs876657767, rs1565053085, rs1565053147, rs1557778277, rs1557776329, rs886039136, rs771262904, rs727504314, rs1563000044, rs541612157, rs766265889, rs1558988204, rs1559051231, rs1559262463, rs1559448864, rs1559469421, rs1559556267, rs1559746821, rs1559873786, rs1561323791, rs1561445221, rs1561686893, rs1561698714, rs1561702549, rs1565623439, rs1565623713, rs1565626367, rs1565627110, rs1565627145, rs397515889, rs1565628520, rs774316050, rs1592798444, rs1565590309, rs1566967399, rs1569552936, rs1559712733, rs1561690319, rs1561701721, rs869125101, rs1595843553, rs1576018303, rs746115846, rs777315336, rs1431206462, rs1572358674, rs1477669354, rs1575584918, rs1575614351, rs72648222, rs1575799625, rs1576014673, rs1576147786, rs747469275, rs1581805658, rs1227662860, rs1585169831, rs1592729525, rs762753884, rs1596155145, rs1572358821, rs991187915, rs1575649368, rs1060500562, rs1450218521, rs775256998, rs1572332762, rs1571627006, rs1575253896, rs1575616801, rs1575775337, rs1575948935, rs1574083547, rs1574087037, rs1589632398, rs1585171818, rs1603365762, rs768079285, rs1575663327, rs1575796530, rs1574659116, rs267607001, rs1567093598, rs1572359848, rs1060500505, rs1575512482, rs1575872984, rs1161735211, rs1576141328, rs906494713, rs1576685753, rs1266489077, rs1581813564, rs778808038, rs397516363, rs1596386673, rs1575610911, rs727503266, rs1603377936, rs777702465, rs1708504899, rs2054381012, rs1575285509, rs1695435412, rs1699247877, rs879139686, rs2060187635, rs761380979, rs1464886350, rs1956192035, rs752522753, rs1205836993, rs2095894178
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886	26938784
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074	26938784
Genitopatellar syndrome	Genitopatellar Syndrome, Genitopatellar syndrome	rs199470470, rs199470475, rs199470473, rs199470477, rs199470484, rs199470469, rs199470472, rs199470478, rs1057516033, rs1554843815, rs1564628365, rs1564632652, rs1589846743, rs774508465, rs1589844592, rs1589844927	22265014, 28696035, 25424711, 22077973, 22265017, 27031267
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hypogonadotropic hypogonadism	Hypogonadotropic hypogonadism	rs104894702, rs104893836, rs104893837, rs104893842, rs121909628, rs138249161, rs1601946139
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605	26938784
Mental retardation	Severe intellectual disability, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Kbg syndrome	KBG syndrome	rs863223319, rs863223320, rs863223321, rs797044900, rs797044890, rs797045027, rs863225257, rs863225296, rs869312713, rs878855327, rs879253753, rs886039477, rs886039734, rs886039902, rs886041521, rs886041125, rs761848111, rs886041791, rs886042019, rs772229371, rs1057518987, rs1057518663, rs1555521799, rs763407068, rs1057519399, rs772267579, rs1064794330, rs1064793539, rs1064795497, rs1135401815, rs1135401804, rs1381957912, rs1555528400, rs1221781038, rs1555525088, rs1555525977, rs1555527929, rs1364690005, rs749201074, rs1555525603, rs1555525296, rs1555524861, rs1555529645, rs1555535454, rs1555528354, rs1555529979, rs1555528356, rs1555525517, rs749607205, rs1555525115, rs1555529181, rs1555529551, rs1555527341, rs1567566026, rs1567571990, rs1567579092, rs1567579525, rs1567583835, rs761636251, rs749632782, rs1567572265, rs780011005, rs1567592494, rs1597464953, rs1163944246, rs1597460545, rs1597461334, rs1597461100, rs1597477691, rs1597462279, rs1597435896, rs1597452422, rs1597459077, rs1156815415, rs900492387, rs1597435393, rs929007085, rs1597459649, rs2033513257, rs1597436476, rs1597441860, rs1597443966, rs1597451815, rs1597460246, rs1597464360, rs1597459998, rs2034351295, rs2034416153, rs752918694, rs2034471125, rs2034511189
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	28696035, 29226580, 26334766, 22077973, 23436491, 22265014, 22715153, 25424711
Noonan syndrome	Noonan Syndrome	rs121434312, rs267607048, rs121434499, rs113954997, rs104894359, rs104894360, rs104894364, rs104894365, rs104894366, rs104894367, rs193929331, rs28933406, rs104894230, rs104894226, rs104894228, rs137852812, rs137852813, rs137852814, rs267607079, rs267607080, rs121918453, rs121918454, rs28933386, rs121918455, rs121918456, rs121918460, rs121918461, rs121918457, rs121918458, rs121918459, rs121918462, rs121918463, rs121918465, rs121918466, rs121918468, rs121918469, rs121918470, rs80338836, rs267606990, rs121908595, rs267606704, rs121434595, rs11554290, rs121434596, rs267606921, rs267606920, rs80338796, rs121434594, rs80338799, rs80338797, rs180177034, rs121913369, rs180177035, rs121913355, rs180177037, rs180177040, rs387906660, rs606231228, rs397514553, rs121913237, rs397507466, rs397507467, rs121913348, rs397507473, rs397507475, rs180177039, rs397507477, rs397507480, rs121913375, rs397507484, rs727503110, rs730880471, rs121913250, rs397507501, rs397507503, rs397507504, rs397507505, rs397507506, rs397507507, rs397507509, rs397507510, rs397507511, rs397507512, rs397507513, rs397507514, rs397507517, rs397507518, rs397507519, rs397507520, rs397507523, rs397507524, rs397507525, rs397507526, rs376607329, rs397507527, rs397507529, rs397507530, rs397507531, rs397507537, rs397507539, rs397507540, rs397507541, rs397507543, rs397507544, rs397507545, rs397507546, rs397507547, rs397507548, rs397507549, rs397507550, rs397516826, rs727505017, rs3730271, rs397516827, rs397516828, rs397516830, rs397516813, rs730881002, rs730881003, rs397516815, rs730881054, rs397517164, rs397517172, rs397517147, rs397517148, rs727504295, rs397517149, rs730881045, rs397517153, rs397517154, rs727505381, rs397517156, rs574088829, rs397517159, rs397516792, rs397516791, rs397516801, rs397516802, rs397516803, rs397516809, rs397516810, rs397516825, rs397516829, rs397516891, rs397516903, rs397516904, rs397516905, rs397517041, rs397517042, rs397517076, rs397517077, rs397517146, rs397517150, rs397517163, rs397517174, rs397517180, rs397509343, rs672601334, rs672601335, rs587777179, rs587777180, rs483352822, rs587777613, rs202247812, rs121913233, rs727503384, rs121913341, rs180177036, rs180177042, rs121913357, rs727504426, rs727503380, rs727503381, rs727504662, rs727504370, rs727504170, rs727503996, rs730881014, rs267606706, rs121918464, rs869025197, rs869025196, rs869025195, rs869025194, rs869025193, rs869025192, rs869025191, rs869025189, rs869320686, rs797045165, rs797045166, rs869320687, rs797045167, rs864622410, rs869025340, rs869025573, rs869312687, rs876657651, rs886037952, rs886039607, rs886039463, rs777520196, rs886041414, rs189150283, rs868208063, rs1057519732, rs121913496, rs1057519963, rs781431741, rs1135401776, rs1555194026, rs1460026299, rs1553362937, rs1052382672, rs1553196539, rs149850248, rs1398859175, rs761685529, rs1034395178, rs1194536394, rs1555928249, rs750777752, rs1555391053, rs1553610155, rs145594158, rs770933647, rs777243508, rs1390048261, rs1223430276, rs1557962794, rs1249726034, rs150419186, rs782457908, rs1591495767, rs1591495776, rs1591495779, rs1576359216, rs1576387876, rs1576387885, rs727505093, rs1601718760, rs1592808357, rs1592798693, rs869025501, rs397507478, rs1572830693, rs1594982548, rs1458682620, rs1571999498, rs1572830219, rs1593351503, rs1592852902, rs1671004485, rs1673399238, rs397507536	21804188
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Periventricular nodular heterotopia	Periventricular Nodular Heterotopia	rs398122410, rs1557177663, rs1557179349, rs1554054827, rs1554054831, rs1554054880, rs879036238, rs1558087795, rs1558087712, rs1580027036, rs1571844539, rs1580026238, rs2046707868, rs2059194330
Radioulnar synostosis	Radioulnar Synostosis	rs1595756416, rs1595756703, rs1231501584, rs1595756962, rs1595757203, rs1595763070, rs1595766210
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775
Vesicoureteral reflux	Vesico-Ureteral Reflux	rs587777684, rs148731211

Unknown
Disease term	Disease name	Evidence	References	Source
Pulmonary hypoplasia	Congenital hypoplasia of lung			ClinVar
Ptosis	Blepharoptosis, Ptosis			ClinVar
Renal hypoplasia	Congenital hypoplasia of kidney			ClinVar
Specific learning disorder	Specific learning disability			ClinVar
Metabolic Syndrome	Metabolic Syndrome			GWAS
Insomnia	Insomnia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	35396535
Alcohol Related Disorders	Associate	34519438
Aortic Aneurysm Abdominal	Associate	26767057
Blepharophimosis	Associate	37658610
Blepharophimosis Ptosis and Epicanthus Inversus	Associate	24458743
Blepharophimosis syndrome Ohdo type	Associate	23395478, 37658610, 38178270, 39986017
Bone Diseases Developmental	Associate	28286003
Brachydactyly Long Thumb Type	Associate	25424711
Carcinoma Hepatocellular	Associate	34464167
Carcinoma Renal Cell	Inhibit	37365518
Colorectal Neoplasms	Associate	37272875
Congenital Abnormalities	Associate	35885957
Disease	Associate	37288707
Eye Abnormalities	Associate	37658610
Facial Pain	Associate	34519438
Familial paroxysmal dystonia	Associate	15147375
Fractures Bone	Associate	34519438
Genetic Diseases Inborn	Associate	40441421
Genitopatellar Syndrome	Associate	24458743, 25424711, 30900427, 34519438, 37658610, 40441421
Infections	Associate	34519438
Intellectual Disability	Associate	25424711, 34519438
Iridogoniodysgenesis and skeletal anomalies	Associate	34519438
Joint Dislocations	Associate	37658610
Keratoconus	Associate	34519438
Language Development Disorders	Associate	37658610
Leiomyoma	Associate	25621995, 25875009, 28591699, 31027501, 35575789
Leukemia	Associate	23063713, 36754959, 37031220
Leukemia Myeloid Acute	Associate	12619164
Leukemia Myelomonocytic Acute	Associate	15147375
Malocclusion	Associate	24075665, 24698832
Malocclusion Angle Class III	Associate	24075665
Metatarsus Varus	Associate	25424711
Muscle Hypotonia	Associate	25424711
Myelodysplastic Syndromes	Associate	12542485
Neoplasms	Associate	16387653, 16407074, 24294372, 25621995, 28286003, 36639835, 37365518
Neoplasms	Inhibit	34464167
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	15147375
Prostatic Neoplasms	Associate	24294372
Rapadilino syndrome	Associate	37658610
Reflex Abnormal	Associate	37658610
Retinal Dysplasia	Associate	37658610
Retroperitoneal Neoplasms	Associate	25875009
Sarcoma	Associate	35575789
Sarcoma Endometrial Stromal	Associate	35575789
Say syndrome	Associate	23395478
Scoliosis	Associate	32448279
Speech Disorders	Associate	38178270
Squamous Cell Carcinoma of Head and Neck	Associate	30041677
Substance Related Disorders	Associate	37658610
Thyroiditis	Associate	25424711
Tongue Neoplasms	Associate	36639835
Tooth Mobility	Associate	34519438
Uterine Diseases	Associate	35575789
Uterine Neoplasms	Associate	35575789
Young Simpson syndrome	Associate	23395478, 24458743, 25424711, 34519438, 37658610, 38178270, 39986017, 40441421