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	transcobalamin ii deficiency

Disease ID	1192
Disease	transcobalamin ii deficiency
Synonym	tc ii deficiency tcn2 - transcobalamin ii deficiency tcn2 deficiency transcobalamin ii deficiency (disorder)
Orphanet	ORPHANET:859
OMIM	OMIM:275350
DOID	DOID:0050818
ICD10	ICD10CM:D51.2
UMLS	C0342701
SNOMED-CT	SNOMEDCT_US_2016_09_01:237934001
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 6948 \| TCN2 \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:6) 1719 \| DHFR \| 2.398 \| DISEASES 3767 \| KCNJ11 \| 1.521 \| DISEASES 55788 \| LMBRD1 \| 4.535 \| DISEASES 4524 \| MTHFR \| 1.056 \| DISEASES 4548 \| MTR \| 2.588 \| DISEASES 83650 \| SLC35G5 \| 2.749 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1192
Disease	transcobalamin ii deficiency
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	(Waiting for update.)

Disease ID	1192
Disease	transcobalamin ii deficiency
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C0021051 \| immunodeficiency
Text Mined Symptom	(Waiting for update.)

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

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

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs794728001	NA	6948	TCN2	umls:C0342701	CLINVAR	NA	0.360271442	NA	TCN2	22	30615774	TCTG	-

GWASdb Annotation(Total Genotypes:19)
Chr	Pos	SNP_Id	RefGene	EnsemblGene	ENCODE_Factor	ENCODE_TFBS	Chromosome_interaction	GTEx_eQTL	SNP_TFBS_affinity_GWAS3D	SNP_miRNA_target_affinity_PolymiRTS	SNP_splicing_effect_Skippy	SNP_splicing_effect_MutPred_Splice	SNP_ns_protein_effect_dbNSFP	SNP_syn_effect_Silva	SNP_phosphorylation_effect_PhosSNP	PhastCons_score	PhyloP_score	GERP++_RS	Segway_state	Ancestral_allele	ESP_AF	ESP_AFR	ESP_AFR	ESP_EUR	TG_ASN	TG_AMR	TG_AFR	TG_EUR	Type	Consequence	bStatistic	EncH3K27Ac	EncH3K4Me1	EncH3K4Me3	EncNucleo	OMIM	Clinvar
22	31004127	rs9621047	NM_001184726,TCN2	NM_000355,TCN2	ENST00000464734,ENSG00000100330	ENST00000215838,ENSG00000185339	ENST00000423350,ENSG00000185339	ENST00000450638,ENSG00000185339	ENST00000405742,ENSG00000185339	ENST00000407817,ENSG00000185339	TFP.MAX	TFP.EBF1	TFP.EGR1	NA	NA	NA	Aro80-primary,1.5148	Cep3-primary,1.2593	Cep3-primary,4.0381	Gat3-primary,1.7715	Lys14-primary,1.6583	NA	NA	NA	NA	NA	NA	0.000	0.114	0.234	GM1	G	NA	NA	NA	0.320	0.190
22	31007919	rs740233	NM_001184726,TCN2	NM_000355,TCN2	ENST00000464734,ENSG00000100330	ENST00000215838,ENSG00000185339	ENST00000423350,ENSG00000185339	ENST00000450638,ENSG00000185339	ENST00000405742,ENSG00000185339	ENST00000407817,ENSG00000185339	MCV-1	NA	NA	NA	Mig1-primary,2.8177	Mig2-primary,1.3866	Mig3-primary,2.3119	Nkx2-4_3074,1.3614	Phd1-FL-primary,2.7928	NA	NA	NA	NA	NA	NA	0.036	-0.088	-0.22	F0	A	NA	NA	NA	NA	NA	NA	NA
22	31009839	rs11913239	NM_001184726,TCN2	NM_000355,TCN2	ENST00000464734,ENSG00000100330	ENST00000215838,ENSG00000185339	ENST00000450638,ENSG00000185339	ENST00000405742,ENSG00000185339	ENST00000407817,ENSG00000185339	NA	NA	NA	NA	Cbf1-primary,2.017	Gal4-primary,1.3178	Tec1-primary,1.5711	Yml081w-primary,1.4538	Zif268,6.7869	NA	NA	NA	NA	NA	NA	0.000	-0.143	-1.1	GE1	C	NA	NA	NA	NA	NA	NA	NA	NA
22	31010997	rs2267162	NM_001184726,TCN2	NM_000355,TCN2	ENST00000464734,ENSG00000100330	ENST00000215838,ENSG00000185339	ENST00000450638,ENSG00000185339	ENST00000405742,ENSG00000185339	ENST00000407817,ENSG00000185339	ENST00000471659,ENSG00000185339	ENST00000493542,ENSG00000185339	MCV-5	NA	chr22,31010001,31020000,chr22,31200001,31210000,31,Hi-C	chr22,31010001,31020000,chr22,29680001,29690000,5,Hi-C	chr22,31010001,31020000,chr22,18370001,18380000,5,Hi-C	chr22,31010001,31020000,chr2,9780001,9790000,5,Hi-C	chr22,31010001,31020000,chr22,29810001,29820000,6,Hi-C	chr22,31010001,31020000,chr22,31640001,31650000,7,Hi-C	NA	LM100,1.3833	LM176,1.4722	LM195,2.7275	LM211,2.0165	Pax5,1.3452	NA	NA	NA	NA	NA	NA	0.000	0.003	-0.319	R0	C	NA
22	31011280	rs7290898	NM_001184726,TCN2	NM_000355,TCN2	ENST00000464734,ENSG00000100330	ENST00000215838,ENSG00000185339	ENST00000450638,ENSG00000185339	ENST00000405742,ENSG00000185339	ENST00000407817,ENSG00000185339	ENST00000471659,ENSG00000185339	ENST00000493542,ENSG00000185339	NA	NA	chr22,31010001,31020000,chr22,31200001,31210000,31,Hi-C	chr22,31010001,31020000,chr22,29680001,29690000,5,Hi-C	chr22,31010001,31020000,chr22,18370001,18380000,5,Hi-C	chr22,31010001,31020000,chr2,9780001,9790000,5,Hi-C	chr22,31010001,31020000,chr22,29810001,29820000,6,Hi-C	chr22,31010001,31020000,chr22,31640001,31650000,7,Hi-C	NA	Ceh-22,15.5283	Met32-primary,1.3604	Mig1-primary,3.9283	Xbp1-FL-primary,2.4794	Ygr067c-primary,1.5031	NA	NA	NA	NA	NA	NA	0.000	-2.667	-11	TF2	C	0.112
22	31011557	rs2267163	NM_001184726,TCN2	NM_000355,TCN2	ENST00000464734,ENSG00000100330	ENST00000215838,ENSG00000185339	ENST00000450638,ENSG00000185339	ENST00000405742,ENSG00000185339	ENST00000407817,ENSG00000185339	ENST00000471659,ENSG00000185339	ENST00000493542,ENSG00000185339	MCV-5	NA	chr22,31010001,31020000,chr22,31200001,31210000,31,Hi-C	chr22,31010001,31020000,chr22,29680001,29690000,5,Hi-C	chr22,31010001,31020000,chr22,18370001,18380000,5,Hi-C	chr22,31010001,31020000,chr2,9780001,9790000,5,Hi-C	chr22,31010001,31020000,chr22,29810001,29820000,6,Hi-C	chr22,31010001,31020000,chr22,31640001,31650000,7,Hi-C	NA	LM20,6.4253	LM111,19.4275	LM123,3.8961	LM129,2.3113	LM146,5.1049	NA	NA	NA	NA	NA	NA	0.120	0.003	-0.65	R5	C	NA
22	31011882	rs4820021	NM_001184726,TCN2	NM_000355,TCN2	ENST00000464734,ENSG00000100330	ENST00000215838,ENSG00000185339	ENST00000450638,ENSG00000185339	ENST00000405742,ENSG00000185339	ENST00000407817,ENSG00000185339	ENST00000471659,ENSG00000185339	ENST00000493542,ENSG00000185339	TFP.MAFK	TFP.MAFF	TFP.CEBPB	MCV-1	Maf_known4_8mer,MAFF	Maf_known4_8mer,MAFK	chr22,31010001,31020000,chr22,31200001,31210000,31,Hi-C	chr22,31010001,31020000,chr22,29680001,29690000,5,Hi-C	chr22,31010001,31020000,chr22,18370001,18380000,5,Hi-C	chr22,31010001,31020000,chr2,9780001,9790000,5,Hi-C	chr22,31010001,31020000,chr22,29810001,29820000,6,Hi-C	chr22,31010001,31020000,chr22,31640001,31650000,7,Hi-C	NA	Aft1-primary,5.0602	Mig1-primary,1.9605	Mig2-primary,13.8906	Mig3-primary,23.0782	Rap1-FL-primary,2.0885	NA	NA	NA	NA	NA	NA	0.188	0.861
22	31011906	rs5749135	NM_001184726,TCN2	NM_000355,TCN2	ENST00000464734,ENSG00000100330	ENST00000215838,ENSG00000185339	ENST00000450638,ENSG00000185339	ENST00000405742,ENSG00000185339	ENST00000407817,ENSG00000185339	ENST00000471659,ENSG00000185339	ENST00000493542,ENSG00000185339	TFP.MAFK	TFP.MAFF	TFP.CEBPB	MCV-1	NA	chr22,31010001,31020000,chr22,31200001,31210000,31,Hi-C	chr22,31010001,31020000,chr22,29680001,29690000,5,Hi-C	chr22,31010001,31020000,chr22,18370001,18380000,5,Hi-C	chr22,31010001,31020000,chr2,9780001,9790000,5,Hi-C	chr22,31010001,31020000,chr22,29810001,29820000,6,Hi-C	chr22,31010001,31020000,chr22,31640001,31650000,7,Hi-C	NA	Cbf1-primary,1.4267	Cup9-primary,2.7724	Met32-primary,1.5325	Met32-primary,1.8164	Mrg1_2246,1.4423	NA	NA	NA	NA	NA	NA	0.015	0.224	0.621
22	31011923	rs16988855	NM_001184726,TCN2	NM_000355,TCN2	ENST00000464734,ENSG00000100330	ENST00000215838,ENSG00000185339	ENST00000450638,ENSG00000185339	ENST00000405742,ENSG00000185339	ENST00000407817,ENSG00000185339	ENST00000471659,ENSG00000185339	ENST00000493542,ENSG00000185339	TFP.MAFK	TFP.MAFF	TFP.CEBPB	MCV-1	NA	chr22,31010001,31020000,chr22,31200001,31210000,31,Hi-C	chr22,31010001,31020000,chr22,29680001,29690000,5,Hi-C	chr22,31010001,31020000,chr22,18370001,18380000,5,Hi-C	chr22,31010001,31020000,chr2,9780001,9790000,5,Hi-C	chr22,31010001,31020000,chr22,29810001,29820000,6,Hi-C	chr22,31010001,31020000,chr22,31640001,31650000,7,Hi-C	NA	ATF,1.8143	v-Jun,1.8986	v-Jun,3.379	SRF,2.3498	SRF,4.1593	NA	NA	NA	NA	NA	NA	0.000	-0.096	-1.17
22	31013296	rs2283873	NM_001184726,TCN2	NM_000355,TCN2	ENST00000464734,ENSG00000100330	ENST00000215838,ENSG00000185339	ENST00000450638,ENSG00000185339	ENST00000405742,ENSG00000185339	ENST00000407817,ENSG00000185339	ENST00000471659,ENSG00000185339	ENST00000493542,ENSG00000185339	MCV-3	NA	chr22,31010001,31020000,chr22,31200001,31210000,31,Hi-C	chr22,31010001,31020000,chr22,29680001,29690000,5,Hi-C	chr22,31010001,31020000,chr22,18370001,18380000,5,Hi-C	chr22,31010001,31020000,chr2,9780001,9790000,5,Hi-C	chr22,31010001,31020000,chr22,29810001,29820000,6,Hi-C	chr22,31010001,31020000,chr22,31640001,31650000,7,Hi-C	NA	Rph1-primary,5.8147	Rsc3-primary,22.0577	Tgif2_3451,4.8935	Tye7-primary,1.2933	Ume6-primary,2.9953	NA	NA	NA	NA	NA	NA	0.001	0.741	2.14	TF0	C	0.118
22	31014377	rs2009857	NM_001184726,TCN2	NM_000355,TCN2	ENST00000464734,ENSG00000100330	ENST00000215838,ENSG00000185339	ENST00000450638,ENSG00000185339	ENST00000405742,ENSG00000185339	ENST00000407817,ENSG00000185339	ENST00000471659,ENSG00000185339	ENST00000493542,ENSG00000185339	NA	NA	chr22,31010001,31020000,chr22,31200001,31210000,31,Hi-C	chr22,31010001,31020000,chr22,29680001,29690000,5,Hi-C	chr22,31010001,31020000,chr22,18370001,18380000,5,Hi-C	chr22,31010001,31020000,chr2,9780001,9790000,5,Hi-C	chr22,31010001,31020000,chr22,29810001,29820000,6,Hi-C	chr22,31010001,31020000,chr22,31640001,31650000,7,Hi-C	NA	NA	NA	NA	NA	NA	NA	NA	0.007	-1.099	-0.298	F0	C	NA	NA	NA	NA	NA
22	31015562	rs7288627	NM_001184726,TCN2	NM_000355,TCN2	ENST00000464734,ENSG00000100330	ENST00000215838,ENSG00000185339	ENST00000450638,ENSG00000185339	ENST00000405742,ENSG00000185339	ENST00000407817,ENSG00000185339	ENST00000493542,ENSG00000185339	MCV-2	NA	chr22,31010001,31020000,chr22,31200001,31210000,31,Hi-C	chr22,31010001,31020000,chr22,29680001,29690000,5,Hi-C	chr22,31010001,31020000,chr22,18370001,18380000,5,Hi-C	chr22,31010001,31020000,chr2,9780001,9790000,5,Hi-C	chr22,31010001,31020000,chr22,29810001,29820000,6,Hi-C	chr22,31010001,31020000,chr22,31640001,31650000,7,Hi-C	NA	Cutl1_3494,3.3374	Gat1-primary,1.3342	Gln3-primary,1.6983	Gzf3-primary,1.803	PFF0200c,2.5278	NA	NA	NA	NA	NA	NA	0.000	-0.224	-1.83	R4	G	NA	NA
22	31015573	rs7288385	NM_001184726,TCN2	NM_000355,TCN2	ENST00000464734,ENSG00000100330	ENST00000215838,ENSG00000185339	ENST00000450638,ENSG00000185339	ENST00000405742,ENSG00000185339	ENST00000407817,ENSG00000185339	ENST00000493542,ENSG00000185339	MCV-2	NA	chr22,31010001,31020000,chr22,31200001,31210000,31,Hi-C	chr22,31010001,31020000,chr22,29680001,29690000,5,Hi-C	chr22,31010001,31020000,chr22,18370001,18380000,5,Hi-C	chr22,31010001,31020000,chr2,9780001,9790000,5,Hi-C	chr22,31010001,31020000,chr22,29810001,29820000,6,Hi-C	chr22,31010001,31020000,chr22,31640001,31650000,7,Hi-C	NA	LM6,7.5854	LM93,2.0061	LM221,7.2882	GGCNRNWCTTYS,21.0977	NA	NA	NA	NA	NA	NA	0.000	-0.028	-0.613	TF2	C	NA	NA	NA
22	31017322	rs4820888	NM_001184726,TCN2	NM_000355,TCN2	ENST00000464734,ENSG00000100330	ENST00000215838,ENSG00000185339	ENST00000450638,ENSG00000185339	ENST00000405742,ENSG00000185339	ENST00000407817,ENSG00000185339	ENST00000493542,ENSG00000185339	NA	NA	chr22,31010001,31020000,chr22,31200001,31210000,31,Hi-C	chr22,31010001,31020000,chr22,29680001,29690000,5,Hi-C	chr22,31010001,31020000,chr22,18370001,18380000,5,Hi-C	chr22,31010001,31020000,chr2,9780001,9790000,5,Hi-C	chr22,31010001,31020000,chr22,29810001,29820000,6,Hi-C	chr22,31010001,31020000,chr22,31640001,31650000,7,Hi-C	NA	Emx2_3420,1.4388	PFF0200c,1.3369	PFF0200c,1.4635	Rax_3443,1.4578	Rhox6_4251,1.7048	NA	NA	NA	NA	NA	NA	0.000	-2.293	-1.83	L1	G	NA	NA
22	31018072	rs8141515	NM_001184726,TCN2	NM_000355,TCN2	ENST00000464734,ENSG00000100330	ENST00000215838,ENSG00000185339	ENST00000450638,ENSG00000185339	ENST00000405742,ENSG00000185339	ENST00000407817,ENSG00000185339	ENST00000493542,ENSG00000185339	NA	NA	chr22,31010001,31020000,chr22,31200001,31210000,31,Hi-C	chr22,31010001,31020000,chr22,29680001,29690000,5,Hi-C	chr22,31010001,31020000,chr22,18370001,18380000,5,Hi-C	chr22,31010001,31020000,chr2,9780001,9790000,5,Hi-C	chr22,31010001,31020000,chr22,29810001,29820000,6,Hi-C	chr22,31010001,31020000,chr22,31640001,31650000,7,Hi-C	NA	LM4,2.1191	LM169,3.2419	Ar,1.6252	RXRA-VDR,10.4614	CCCNNNNNNAAGWT,1.4531	NA	NA	NA	NA	NA	NA	0.009	0.456	0.53	H3K9me1	T	NA	NA
22	31018078	rs2267166	NM_001184726,TCN2	NM_000355,TCN2	ENST00000464734,ENSG00000100330	ENST00000215838,ENSG00000185339	ENST00000450638,ENSG00000185339	ENST00000405742,ENSG00000185339	ENST00000407817,ENSG00000185339	ENST00000493542,ENSG00000185339	NA	NA	chr22,31010001,31020000,chr22,31200001,31210000,31,Hi-C	chr22,31010001,31020000,chr22,29680001,29690000,5,Hi-C	chr22,31010001,31020000,chr22,18370001,18380000,5,Hi-C	chr22,31010001,31020000,chr2,9780001,9790000,5,Hi-C	chr22,31010001,31020000,chr22,29810001,29820000,6,Hi-C	chr22,31010001,31020000,chr22,31640001,31650000,7,Hi-C	NA	LM24,2.8281	LM151,8.4419	LM169,1.8445	LM206,1.3682	Arnt-Ahr,7.3114	NA	NA	NA	NA	NA	NA	0.026	0.524	0.53	H3K9me1	G	NA	NA
22	31018646	rs2301955	NM_001184726,TCN2	NM_000355,TCN2	ENST00000464734,ENSG00000100330	ENST00000215838,ENSG00000185339	ENST00000450638,ENSG00000185339	ENST00000405742,ENSG00000185339	ENST00000407817,ENSG00000185339	ENST00000493542,ENSG00000185339	NA	NA	chr22,31010001,31020000,chr22,31200001,31210000,31,Hi-C	chr22,31010001,31020000,chr22,29680001,29690000,5,Hi-C	chr22,31010001,31020000,chr22,18370001,18380000,5,Hi-C	chr22,31010001,31020000,chr2,9780001,9790000,5,Hi-C	chr22,31010001,31020000,chr22,29810001,29820000,6,Hi-C	chr22,31010001,31020000,chr22,31640001,31650000,7,Hi-C	NA	Cutl1_3494,1.2944	Gat3-primary,2.5648	Hoxa13_3126,1.4396	Pbf1-primary,1.3971	Pbf2-primary,2.498	NA	NA	NA	NA	NA	NA	0.000	-0.408	-2.26	TF1	C	NA	NA
22	31018975	rs1131603	NM_001184726,TCN2	NM_000355,TCN2	ENST00000464734,ENSG00000100330	ENST00000215838,ENSG00000185339	ENST00000450638,ENSG00000185339	ENST00000405742,ENSG00000185339	ENST00000407817,ENSG00000185339	ENST00000493542,ENSG00000185339	NA	NA	chr22,31010001,31020000,chr22,31200001,31210000,31,Hi-C	chr22,31010001,31020000,chr22,29680001,29690000,5,Hi-C	chr22,31010001,31020000,chr22,18370001,18380000,5,Hi-C	chr22,31010001,31020000,chr2,9780001,9790000,5,Hi-C	chr22,31010001,31020000,chr22,29810001,29820000,6,Hi-C	chr22,31010001,31020000,chr22,31640001,31650000,7,Hi-C	NA	Cbf1-primary,2.1664	Gat1-primary,23.4542	Mbp1-primary,13.2173	Pknox2_3077,8.0711	Ume6-primary,2.1961	NA	NA	NA	TCN2,T,A,L,X,0.735185,0.903686,1,1	TCN2,T,C,L,S,0.999,1,1,0.999906	TCN2,T,G,L,W,0.999,1,1,0.999992	NA	NM_000355,TypeI+,TTG->TCG,L->S,3.75	NM_000355,TypeI+,TTG->TCG,L->S,4.5	NM_000355,TypeI+,TTG->TCG,L->S,8.667	NM_000355,TypeII+,TTG->TCG,L->S,3.2	NM_000355,TypeIII+,TTG->TCG,L->S,3	NM_000355,TypeIII+,TTG->TCG,L->S,4.25
22	31022733	rs2072195	NM_001184726,TCN2	NM_000355,TCN2	ENST00000464734,ENSG00000100330	ENST00000215838,ENSG00000185339	ENST00000450638,ENSG00000185339	ENST00000405742,ENSG00000185339	ENST00000407817,ENSG00000185339	TFP.RAD21	TFP.CTCF	NA	chr22,31020001,31030000,chr22,31110001,31120000,36,Hi-C	chr22,31020001,31030000,chr22,30840001,30850000,37,Hi-C	chr22,31020001,31030000,chr6,34820001,34830000,44,Hi-C	chr22,31020001,31030000,chr8,32060001,32070000,7,Hi-C	chr22,31020001,31030000,chr22,45890001,45900000,8,Hi-C	chr22,31020001,31030000,chr22,31590001,31600000,6,Hi-C	chr22,31020001,31030000,chr2,118280001,118290000,16,Hi-C	NA	LM12,1.4332	LM70,1.4134	LM100,15.3887	LM127,4.1692	Agamous,2.2222	hsa-miR-942-3p,-0.121000	NA	NA	NA	NA	NA	0.000	-0.595	-4.17	TF0	A	NA

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.)

Disease ID	1192
Disease	transcobalamin ii deficiency
Case	(Waiting for update.)