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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Anemia (D000740)
Parent Node: Bone Marrow Diseases (D001855)
..Starting node ..Anemia, Aplastic (D000741)
Child Nodes:
........Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies/Mental Retardation Syndrome (C565796)
........Anemia, Hypoplastic, Congenital (D029502) 27
........Aplastic anemia, idiopathic (C538494)
........WT limb blood syndrome (C536751)
Sister Nodes:
..Acquired amegakaryocytic thrombocytopenia (C538172)
..Acquired pure megakaryocytic aplasia (C538176)
..Anemia, Aplastic (D000741) 31
..Bone Marrow Neoplasms (D019046)
..Drachtman Weinblatt Sitarz syndrome (C535603)
..Myelodysplastic Syndromes (D009190) 18
..Myelodysplastic-Myeloproliferative Diseases (D054437) 5
..Myeloproliferative Disorders (D009196) 24
..Shwachman syndrome (C537330)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

621

Name:

Anemia, Aplastic

Definition:

A form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements.

Alternative IDs:

OMIM:609135

ParentIDs:

MESH:D000740|MESH:D001855

TreeNumbers:

C15.378.071.085 |C15.378.190.196

Synonyms:

Slim Mappings:

Blood disease

Reference:

MedGen: D000741
MeSH: D000741
OMIM: 609135;

Genes: IFNG; NBN;

Phenotypes

1	HP:0001915	Aplastic anemia
2	HP:0005528	Bone marrow hypocellularity

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_002485.4(NBN):c.511A>G (p.Ile171Val)	4683	NBN	Benign;Pathogenic;Uncertain significance;risk factor	61754966	RCV000197512; RCV000007360; RCV000007361; RCV000178867; RCV000121618; RCV000115797;	N	MedGen:C0002874,OMIM:609135,SNOMED CT:306058006; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:C1840513; MedGen:CN169374; MedGen:CN221809	8	90990521	90990521	NM_002485.4:c.511A>G	NP_002476.2:p.Ile171Val	NC_000008.10:g.90990521T>C	OMIM Allelic Variant:602667.0007	C0002874 609135 Aplastic anemia; C0027672 Hereditary cancer-predisposing syndrome; C1840513 Leukemia, acute lymphoblastic, susceptibility to; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN221809 not provided; CN169374 not
NM_001083116.1(PRF1):c.1163G>T (p.Ser388Ile)	5551	PRF1	Pathogenic	193302875	RCV000014722;	N	MedGen:C0002874,OMIM:609135,SNOMED CT:306058006	10	72358314	72358314	NM_001083116.1:c.1163G>T	NP_001076585.1:p.Ser388Ile	NC_000010.10:g.72358314C>A	OMIM Allelic Variant:170280.0012	C0002874 609135 Aplastic anemia
NM_001083116.1(PRF1):c.11G>A (p.Arg4His)	5551	PRF1	Pathogenic	35418374	RCV000014723;	N	MedGen:C0002874,OMIM:609135,SNOMED CT:306058006	10	72360648	72360648	NM_001083116.1:c.11G>A	NP_001076585.1:p.Arg4His	NC_000010.10:g.72360648C>T	OMIM Allelic Variant:170280.0013	C0002874 609135 Aplastic anemia
NR_001566.1(TERC):n.450G>A	7012	TERC	Pathogenic	199422287	RCV000032576;	N	MedGen:C0002874,OMIM:609135,SNOMED CT:306058006	3	169482399	169482399	-	-	NC_000003.11:g.169482399C>T	-	C0002874 609135 Aplastic anemia
NR_001566.1(TERC):n.391_392delCC	7012	TERC	Pathogenic	199422283	RCV000032574;	N	MedGen:C0002874,OMIM:609135,SNOMED CT:306058006	3	169482457	169482458	-	-	NC_000003.11:g.169482457_169482458delGG	-	C0002874 609135 Aplastic anemia
NR_001566.1(TERC):n.323C>T	7012	TERC	Pathogenic	199422281	RCV000032571;	N	MedGen:C0002874,OMIM:609135,SNOMED CT:306058006	3	169482526	169482526	-	-	NC_000003.11:g.169482526G>A	-	C0002874 609135 Aplastic anemia
NR_001566.1(TERC):n.322G>A	7012	TERC	Pathogenic	199422280	RCV000032570;	N	MedGen:C0002874,OMIM:609135,SNOMED CT:306058006	3	169482527	169482527	-	-	NC_000003.11:g.169482527C>T	-	C0002874 609135 Aplastic anemia
NR_001566.1(TERC):n.305G>A	7012	TERC	Pathogenic	199422279	RCV000032569;	N	MedGen:C0002874,OMIM:609135,SNOMED CT:306058006	3	169482544	169482544	-	-	NC_000003.11:g.169482544C>T	-	C0002874 609135 Aplastic anemia
NR_001566.1(TERC):n.180C>T	7012	TERC	Pathogenic	199422276	RCV000032563;	N	MedGen:C0002874,OMIM:609135,SNOMED CT:306058006	3	169482669	169482669	-	-	NC_000003.11:g.169482669G>A	-	C0002874 609135 Aplastic anemia
NR_001566.1(TERC):n.178G>A	7012	TERC	Pathogenic	199422275	RCV000032562;	N	MedGen:C0002874,OMIM:609135,SNOMED CT:306058006	3	169482671	169482671	-	-	NC_000003.11:g.169482671C>T	-	C0002874 609135 Aplastic anemia
NR_001566.1(TERC):n.117A>C	7012	TERC	Pathogenic	199422273	RCV000032560;	N	MedGen:C0002874,OMIM:609135,SNOMED CT:306058006	3	169482732	169482732	-	-	NC_000003.11:g.169482732T>G	-	C0002874 609135 Aplastic anemia
NR_001566.1(TERC):n.110_113delGACT	7012	TERC	Pathogenic	199422270	RCV000032556; RCV000007749;	N	MedGen:C0002874,OMIM:609135,SNOMED CT:306058006; MedGen:C3553622,OMIM:614743	3	169482736	169482739	-	-	NC_000003.11:g.169482736_169482739delAGTC	OMIM Allelic Variant:602322.0006	C0002874 609135 Aplastic anemia; C3553622 614743 PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2
NR_001566.1(TERC):n.72C>G	7012	TERC	Pathogenic	199422265	RCV000032581; RCV000007748;	N	MedGen:C0002874,OMIM:609135,SNOMED CT:306058006; MedGen:C3553622,OMIM:614743	3	169482777	169482777	-	-	NC_000003.11:g.169482777G>C	OMIM Allelic Variant:602322.0005	C0002874 609135 Aplastic anemia; C3553622 614743 PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2
NR_001566.1(TERC):n.58G>A	7012	TERC	Pathogenic	113487931	RCV000032580; RCV000007747;	N	MedGen:C0002874,OMIM:609135,SNOMED CT:306058006; MedGen:C3553622,OMIM:614743	3	169482791	169482791	-	-	NC_000003.11:g.169482791C>T	OMIM Allelic Variant:602322.0004	C0002874 609135 Aplastic anemia; C3553622 614743 PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2
NR_001566.1(TERC):n.28_34delGTGGTGG	7012	TERC	Pathogenic	199422259	RCV000032567;	N	MedGen:C0002874,OMIM:609135,SNOMED CT:306058006	3	169482815	169482821	-	-	NC_000003.11:g.169482815_169482821delCCACCAC	-	C0002874 609135 Aplastic anemia
NM_198253.2(TERT):c.3268G>A (p.Val1090Met)	7015	TERT	Pathogenic	121918664	RCV000032394; RCV000013570;	N	MedGen:C0002874,OMIM:609135,SNOMED CT:306058006; MedGen:C3553617,OMIM:614742	5	1254510	1254510	NM_198253.2:c.3268G>A	NP_937983.2:p.Val1090Met	NC_000005.9:g.1254510C>T	OMIM Allelic Variant:187270.0005	C0002874 609135 Aplastic anemia; C3553617 614742 PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
NM_198253.2(TERT):c.3184G>A (p.Ala1062Thr)	7015	TERT	Pathogenic;risk factor	35719940	RCV000032393; RCV000030632; RCV000151992;	N	MedGen:C0002874,OMIM:609135,SNOMED CT:306058006; MedGen:CN118027; MedGen:CN169374	5	1254594	1254594	NM_198253.2:c.3184G>A	NP_937983.2:p.Ala1062Thr	NC_000005.9:g.1254594C>T	OMIM Allelic Variant:187270.0022	C0002874 609135 Aplastic anemia; CN118027 Leukemia, acute myeloid, susceptibility to; CN169374 not specified
NM_198253.2(TERT):c.3043T>C (p.Cys1015Arg)	7015	TERT	Pathogenic	199422307	RCV000032392;	N	MedGen:C0002874,OMIM:609135,SNOMED CT:306058006	5	1255516	1255516	NM_198253.2:c.3043T>C	NP_937983.2:p.Cys1015Arg	NC_000005.9:g.1255516A>G	-	C0002874 609135 Aplastic anemia
NM_198253.2(TERT):c.2935C>T (p.Arg979Trp)	7015	TERT	Pathogenic	199422305	RCV000032390; RCV000144245;	N	MedGen:C0002874,OMIM:609135,SNOMED CT:306058006; MedGen:C1851970,OMIM:127550	5	1260624	1260624	NM_198253.2:c.2935C>T	NP_937983.2:p.Arg979Trp	NC_000005.9:g.1260624G>A	-	C0002874 609135 Aplastic anemia; C1851970 127550 Dyskeratosis congenita autosomal dominant
NM_198253.2(TERT):c.2628C>G (p.His876Gln)	7015	TERT	Pathogenic	199422303	RCV000032387;	N	MedGen:C0002874,OMIM:609135,SNOMED CT:306058006	5	1266605	1266605	NM_198253.2:c.2628C>G	NP_937983.2:p.His876Gln	NC_000005.9:g.1266605G>C	-	C0002874 609135 Aplastic anemia
NM_198253.2(TERT):c.2537A>G (p.Tyr846Cys)	7015	TERT	Pathogenic	199422302	RCV000032384;	N	MedGen:C0002874,OMIM:609135,SNOMED CT:306058006	5	1268680	1268680	NM_198253.2:c.2537A>G	NP_937983.2:p.Tyr846Cys	NC_000005.9:g.1268680T>C	-	C0002874 609135 Aplastic anemia
NM_198253.2(TERT):c.2315A>G (p.Tyr772Cys)	7015	TERT	Pathogenic	121918663	RCV000032382; RCV000013569;	N	MedGen:C0002874,OMIM:609135,SNOMED CT:306058006; MedGen:C3553617,OMIM:614742	5	1272367	1272367	NM_198253.2:c.2315A>G	NP_937983.2:p.Tyr772Cys	NC_000005.9:g.1272367T>C	OMIM Allelic Variant:187270.0004	C0002874 609135 Aplastic anemia; C3553617 614742 PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
NM_198253.2(TERT):c.2147C>T (p.Ala716Val)	7015	TERT	Pathogenic	199422298	RCV000032376;	N	MedGen:C0002874,OMIM:609135,SNOMED CT:306058006	5	1278895	1278895	NM_198253.2:c.2147C>T	NP_937983.2:p.Ala716Val	NC_000005.9:g.1278895G>A	-	C0002874 609135 Aplastic anemia
NM_198253.2(TERT):c.2080G>A (p.Val694Met)	7015	TERT	Pathogenic	121918662	RCV000032373; RCV000013568;	N	MedGen:C0002874,OMIM:609135,SNOMED CT:306058006; MedGen:C3553617,OMIM:614742	5	1279456	1279456	NM_198253.2:c.2080G>A	NP_937983.2:p.Val694Met	NC_000005.9:g.1279456C>T	OMIM Allelic Variant:187270.0003	C0002874 609135 Aplastic anemia; C3553617 614742 PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
NM_198253.2(TERT):c.1234C>T (p.His412Tyr)	7015	TERT	Likely benign;Pathogenic	34094720	RCV000032365; RCV000190902; RCV000013567; RCV000218461;	N	MedGen:C0002874,OMIM:609135,SNOMED CT:306058006; MedGen:C3151444; MedGen:C3553617,OMIM:614742; MedGen:CN169374	5	1293767	1293767	NM_198253.2:c.1234C>T	NP_937983.2:p.His412Tyr	NC_000005.9:g.1293767G>A	OMIM Allelic Variant:187270.0002	C0002874 609135 Aplastic anemia; C3151444 Dyskeratosis congenita, autosomal recessive, 4; CN169374 not specified; C3553617 614742 PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
NM_198253.2(TERT):c.915G>A (p.Ala305=)	7015	TERT	Benign	2736098	RCV000032400; RCV000144244; RCV000151999;	N	MedGen:C0002874,OMIM:609135,SNOMED CT:306058006; MedGen:C1851970,OMIM:127550; MedGen:CN169374	5	1294086	1294086	NM_198253.2:c.915G>A	NP_937983.2:p.Ala305=	NC_000005.9:g.1294086C>T	-	C0002874 609135 Aplastic anemia; C1851970 127550 Dyskeratosis congenita autosomal dominant; CN169374 not specified
NM_198253.2(TERT):c.835G>A (p.Ala279Thr)	7015	TERT	Benign;Pathogenic	61748181	RCV000032399; RCV000176003;	N	MedGen:C0002874,OMIM:609135,SNOMED CT:306058006; MedGen:CN169374	5	1294166	1294166	NM_198253.2:c.835G>A	NP_937983.2:p.Ala279Thr	NC_000005.9:g.1294166C>T	-	C0002874 609135 Aplastic anemia; CN169374 not specified
NM_198253.2(TERT):c.604G>A (p.Ala202Thr)	7015	TERT	Pathogenic	121918661	RCV000032398; RCV000013566;	N	MedGen:C0002874,OMIM:609135,SNOMED CT:306058006; MedGen:C3553617,OMIM:614742	5	1294397	1294397	NM_198253.2:c.604G>A	NP_937983.2:p.Ala202Thr	NC_000005.9:g.1294397C>T	OMIM Allelic Variant:187270.0001	C0002874 609135 Aplastic anemia; C3553617 614742 PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
NM_001099274.1(TINF2):c.862T>C (p.Phe288Leu)	26277	TINF2	Pathogenic	199422317	RCV000032176;	N	MedGen:C0002874,OMIM:609135,SNOMED CT:306058006	14	24709824	24709824	NM_001099274.1:c.862T>C	NP_001092744.1:p.Phe288Leu	NC_000014.8:g.24709824A>G	-	C0002874 609135 Aplastic anemia