PedAM

Pediatric Disease Annotations & Medicines


	kabuki syndrome 1

Disease ID	1643
Disease	kabuki syndrome 1
Definition	A rare, autosomal dominant or X-linked dominant inherited syndrome caused by mutations in the KMT2D gene (also known as MLL2) or the KDM6A gene. It is characterized by distinctive facial features including arched eyebrows, long eyelashes, long palpebral fissures with the lower lids turned out at the outside edges, a flat nose, and large protruding earlobes, developmental delay and intellectual disability.
Synonym	kabuk1 kabuki make up syndrome kabuki make-up syndrome kabuki make-up syndrome (disorder) kabuki makeup syndrome kabuki syndrome niikawa-kuroki syndrome
Orphanet	ORPHANET:2322
OMIM	OMIM:147920
DOID	DOID:0060473
UMLS	C0796004
SNOMED-CT	SNOMEDCT_US_2016_09_01:313426007
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) KMT2D \| 8085 \| CLINVAR;CTD_human;ORPHANET;UNIPROT KDM6A \| 7403 \| ORPHANET RAP1A \| 5906 \| ORPHANET RAP1B \| 5908 \| ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:190) 608 \| TNFRSF17 \| DISEASES 2249 \| FGF4 \| DISEASES 3002 \| GZMB \| DISEASES 140733 \| MACROD2 \| DISEASES 10423 \| CDIPT \| DISEASES 1666 \| DECR1 \| DISEASES 973 \| CD79A \| DISEASES 10105 \| PPIF \| DISEASES 7473 \| WNT3 \| DISEASES 2584 \| GALK1 \| DISEASES 952 \| CD38 \| DISEASES 595 \| CCND1 \| DISEASES 3398 \| ID2 \| DISEASES 6697 \| SPR \| DISEASES 55640 \| FLVCR2 \| DISEASES 8743 \| TNFSF10 \| DISEASES 6626 \| SNRPA \| DISEASES 30833 \| NT5C \| DISEASES 970 \| CD70 \| DISEASES 57152 \| SLURP1 \| DISEASES 30848 \| CTAG2 \| DISEASES 684 \| BST2 \| DISEASES 6382 \| SDC1 \| DISEASES 78986 \| DUSP26 \| DISEASES 4064 \| CD180 \| DISEASES 57498 \| KIDINS220 \| DISEASES 2012 \| EMP1 \| DISEASES 3569 \| IL6 \| DISEASES 23314 \| SATB2 \| DISEASES 84692 \| CCDC54 \| DISEASES 7188 \| TRAF5 \| DISEASES 23495 \| TNFRSF13B \| DISEASES 64398 \| MPP5 \| DISEASES 9739 \| SETD1A \| DISEASES 27443 \| CECR2 \| DISEASES 3959 \| LGALS3BP \| DISEASES 5605 \| MAP2K2 \| DISEASES 10382 \| TUBB4A \| DISEASES 5471 \| PPAT \| DISEASES 5929 \| RBBP5 \| DISEASES 22794 \| CASC3 \| DISEASES 6774 \| STAT3 \| DISEASES 1062 \| CENPE \| DISEASES 839 \| CASP6 \| DISEASES 644 \| BLVRA \| DISEASES 939 \| CD27 \| DISEASES 9611 \| NCOR1 \| DISEASES 8533 \| COPS3 \| DISEASES 9775 \| EIF4A3 \| DISEASES 5226 \| PGD \| DISEASES 5686 \| PSMA5 \| DISEASES 23126 \| POGZ \| DISEASES 6567 \| SLC16A2 \| DISEASES 4715 \| NDUFB9 \| DISEASES 4319 \| MMP10 \| DISEASES 3176 \| HNMT \| DISEASES 26040 \| SETBP1 \| DISEASES 220134 \| SKA1 \| DISEASES 8321 \| FZD1 \| DISEASES 84661 \| DPY30 \| DISEASES 8820 \| HESX1 \| DISEASES 57619 \| SHROOM3 \| DISEASES 117531 \| TMC1 \| DISEASES 9833 \| MELK \| DISEASES 3251 \| HPRT1 \| DISEASES 9382 \| COG1 \| DISEASES 4218 \| RAB8A \| DISEASES 332 \| BIRC5 \| DISEASES 80150 \| ASRGL1 \| DISEASES 598 \| BCL2L1 \| DISEASES 9963 \| SLC23A1 \| DISEASES 3592 \| IL12A \| DISEASES 5481 \| PPID \| DISEASES 3094 \| HINT1 \| DISEASES 1448 \| CSN3 \| DISEASES 54538 \| ROBO4 \| DISEASES 8507 \| ENC1 \| DISEASES 26579 \| MYEOV \| DISEASES 991 \| CDC20 \| DISEASES 9690 \| UBE3C \| DISEASES 3265 \| HRAS \| DISEASES 358 \| AQP1 \| DISEASES 924 \| CD7 \| DISEASES 8837 \| CFLAR \| DISEASES 8557 \| TCAP \| DISEASES 5198 \| PFAS \| DISEASES 9129 \| PRPF3 \| DISEASES 10419 \| PRMT5 \| DISEASES 8834 \| TMEM11 \| DISEASES 25915 \| NDUFAF3 \| DISEASES 1555 \| CYP2B6 \| DISEASES 113457 \| TUBA3D \| DISEASES 5366 \| PMAIP1 \| DISEASES 23467 \| NPTXR \| DISEASES 147719 \| LYPD4 \| DISEASES 10614 \| HEXIM1 \| DISEASES 7404 \| UTY \| DISEASES 2242 \| FES \| DISEASES 25834 \| MGAT4C \| DISEASES 9573 \| GDF3 \| DISEASES 5813 \| PURA \| DISEASES 344018 \| FIGLA \| DISEASES 3141 \| HLCS \| DISEASES 2246 \| FGF1 \| DISEASES 1429 \| CRYZ \| DISEASES 22978 \| NT5C2 \| DISEASES 2261 \| FGFR3 \| DISEASES 23767 \| FLRT3 \| DISEASES 11188 \| NISCH \| DISEASES 9070 \| ASH2L \| DISEASES 126364 \| LRRC25 \| DISEASES 5174 \| PDZK1 \| DISEASES 54496 \| PRMT7 \| DISEASES 9962 \| SLC23A2 \| DISEASES 875 \| CBS \| DISEASES 5906 \| RAP1A \| DISEASES 1822 \| ATN1 \| DISEASES 7323 \| UBE2D3 \| DISEASES 64919 \| BCL11B \| DISEASES 253260 \| RICTOR \| DISEASES 23567 \| ZNF346 \| DISEASES 11091 \| WDR5 \| DISEASES 5336 \| PLCG2 \| DISEASES 10873 \| ME3 \| DISEASES 11314 \| CD300A \| DISEASES 51660 \| MPC1 \| DISEASES 83416 \| FCRL5 \| DISEASES 23137 \| SMC5 \| DISEASES 5693 \| PSMB5 \| DISEASES 3664 \| IRF6 \| DISEASES 3075 \| CFH \| DISEASES 481 \| ATP1B1 \| DISEASES 3570 \| IL6R \| DISEASES 4170 \| MCL1 \| DISEASES 257 \| ALX3 \| DISEASES 2805 \| GOT1 \| DISEASES 6658 \| SOX3 \| DISEASES 1491 \| CTH \| DISEASES 1647 \| GADD45A \| DISEASES 9124 \| PDLIM1 \| DISEASES 80712 \| ESX1 \| DISEASES 27286 \| SRPX2 \| DISEASES 90550 \| MCU \| DISEASES 286205 \| SCAI \| DISEASES 9314 \| KLF4 \| DISEASES 8242 \| KDM5C \| DISEASES 84930 \| MASTL \| DISEASES 3190 \| HNRNPK \| DISEASES 11040 \| PIM2 \| DISEASES 80036 \| TRPM3 \| DISEASES 687 \| KLF9 \| DISEASES 256691 \| MAMDC2 \| DISEASES 7403 \| KDM6A \| DISEASES 4609 \| MYC \| DISEASES 353 \| APRT \| DISEASES 57380 \| MRS2 \| DISEASES 79823 \| CAMKMT \| DISEASES 9445 \| ITM2B \| DISEASES 4038 \| LRP4 \| DISEASES 54363 \| HAO1 \| DISEASES 23597 \| ACOT9 \| DISEASES 23322 \| RPGRIP1L \| DISEASES 3662 \| IRF4 \| DISEASES 438 \| ASMT \| DISEASES 2731 \| GLDC \| DISEASES 10675 \| CSPG5 \| DISEASES 51347 \| TAOK3 \| DISEASES 3660 \| IRF2 \| DISEASES 9560 \| CCL4L2 \| DISEASES 64115 \| C10orf54 \| DISEASES 7322 \| UBE2D2 \| DISEASES 4839 \| NOP2 \| DISEASES 7278 \| TUBA3C \| DISEASES 22976 \| PAXIP1 \| DISEASES 152789 \| JAKMIP1 \| DISEASES 132158 \| GLYCTK \| DISEASES 5349 \| FXYD3 \| DISEASES 83552 \| MFRP \| DISEASES 1029 \| CDKN2A \| DISEASES 1719 \| DHFR \| DISEASES 54900 \| LAX1 \| DISEASES 127933 \| UHMK1 \| DISEASES 6917 \| TCEA1 \| DISEASES 930 \| CD19 \| DISEASES 8972 \| MGAM \| DISEASES 100124700 \| HOTAIR \| DISEASES 103164619 \| PCAT2 \| DISEASES 100861550 \| PDX1-AS1 \| DISEASES 677825 \| SNORA44 \| DISEASES 7503 \| XIST \| DISEASES
Locus	(Waiting for update.)

Disease ID	1643
Disease	kabuki syndrome 1
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	(Waiting for update.)

Disease ID	1643
Disease	kabuki syndrome 1
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:114)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs183347186	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49027234	G	A
rs267607237	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49026430	C	T
rs267607238	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49022301	G	A
rs267607239	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49022332	G	A
rs267607240	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49030985	T	A
rs35584294	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49040288	-	A
rs398123699	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49034178	ACACAGA	CGTGACTTGCG
rs398123700	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49034067	C	T
rs398123701	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49033886	G	A
rs398123702	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49033871	G	A
rs398123704	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49033556	G	A
rs398123706	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49033503	CA	-
rs398123708	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49033013	G	A
rs398123711	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49032299	G	A
rs398123712	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49032275	G	A
rs398123715	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49052382	-	G
rs398123716	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49031673	G	-
rs398123720	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49027865	-	A
rs398123721	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49027256	G	A
rs398123722	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49026935	-	T
rs398123723	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49026862	C	G
rs398123724	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49026824	G	A
rs398123729	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49026325	C	T
rs398123732	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49024674	AATA	-
rs398123733	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49022819	C	-
rs398123735	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49022606	TTCTCCCGCCGGTTGGC	G
rs398123741	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49050056	G	A
rs398123743	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49049742	GCCTCCGCTGATA	-
rs398123744	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49048065	AT	-
rs398123750	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49042880	T	C
rs398123751	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49042283	GGGCTGTC	-
rs398123753	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49041175	A	-
rs398123757	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49040704	G	A
rs398123758	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49040630	C	-
rs556669370	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49041974	G	A,T
rs574622908	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49046358	G	T
rs587778449	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49051407	GGCTCCTCAGGCCGGGGGGACAGGTGC	-
rs587783681	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49033442	G	A
rs587783682	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49033415	G	A
rs587783683	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49033319	G	-
rs587783685	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49032113	G	A
rs587783686	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49031809	C	-
rs587783687	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49031748	TC	-
rs587783688	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49031743	G	T
rs587783689	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49052351	AGGT	-
rs587783690	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49031255	G	A
rs587783691	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49031187	G	-
rs587783692	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49030958	G	A
rs587783693	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49030282	CT	-
rs587783695	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49026905	G	A
rs587783696	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49026771	C	T
rs587783697	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49024940	C	T
rs587783698	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49024887	G	A
rs587783699	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49024687	G	A
rs587783700	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49022281	T	A
rs587783702	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49022151	C	A
rs587783703	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49022123	AGTT	-
rs587783704	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49022073	GAT	-
rs587783705	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49051870	C	A
rs587783708	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49054672	C	A
rs587783711	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49050467	G	A
rs587783712	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49050035	G	A
rs587783713	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49049893	G	-
rs587783714	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49054527	C	G
rs587783715	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49047980	G	-
rs587783718	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49046422	C	T
rs587783719	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49045922	G	-
rs587783723	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49042112	G	-
rs587783725	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49041096	TCCCC	-
rs587783727	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49039611	G	A
rs587783728	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49039489	GCTGG	-
rs587783729	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49038613	G	A
rs727503979	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49026710	G	A
rs727503983	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49038868	G	A
rs727503986	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49049116	C	A
rs727503987	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49049834	G	A
rs727503988	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49050885	C	T
rs727503989	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49051868	CT	-
rs727503990	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49054943	T	-
rs756471180	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49048032	-	C
rs793888511	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49032017	G	A
rs793888512	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49037395	G	A
rs793888513	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49027307	C	A
rs793888514	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49026728	CATT	-
rs793888515	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49022152	C	G
rs793888516	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49032892	TGCTGCTGTTGCTGCTGT	-
rs794727143	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49046762	C	T
rs794727342	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49044257	T	A
rs794727379	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49043679	C	-
rs794727420	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49042846	G	A
rs794727497	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49054753	TGTGGACACAC	-
rs794727548	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49040394	GA	-
rs794727549	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49039867	G	A
rs794727610	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49032766	T	-
rs794727611	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49032224	C	-
rs794727689	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49026794	C	-
rs794727752	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49022279	C	A
rs796065328	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49050005	-	G
rs797044630	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49050935	CG	GGATGGCTCAGCT
rs797044740	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49030659	-	C
rs797044744	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49027080	-	T
rs797045001	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49046792	T	G
rs797045658	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49032860	G	A
rs797045659	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49026887	G	A
rs797045660	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49050633	-	A
rs797045661	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49054625	C	-
rs797045662	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49050002	-	T
rs797045663	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49049997	G	-
rs797045667	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49044504	-	C
rs797045668	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49041928	-	T
rs797045669	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49041928	C	-
rs797045670	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49053478	-	C
rs797045671	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49038880	-	TGCTGTTGCCTGTTGTTGCTGCCACAGTTGT
rs797045672	NA	8085	KMT2D	umls:C0796004	CLINVAR	NA	0.489424521	NA	KMT2D	12	49037816	A	-

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)