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	severe congenital neutropenia

Disease ID	1561
Disease	severe congenital neutropenia
Synonym	autosomal dominant or sporadic congenital neutropenia congenital agranulocytosis congenital neutropenia congenital neutropenia (disorder) primary neutropenia
Orphanet	ORPHANET:42738
DOID	DOID:0050590
ICD10	ICD10CM:D70.0
UMLS	C0340970
SNOMED-CT	SNOMEDCT_US_2016_09_01:89655007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:14) C0023418 \| leukemia \| 2 C0023449 \| acute lymphoblastic leukemia \| 1 C0031099 \| periodontitis \| 1 C0020455 \| hypergammaglobulinemia \| 1 C0035309 \| retinopathy \| 1 C0023418 \| leukaemia \| 1 C0020538 \| hypertension \| 1 C0151436 \| leukocytoclastic vasculitis \| 1 C0026985 \| myelodysplasia \| 1 C0023448 \| lymphoblastic leukemia \| 1 C0023075 \| laryngeal stenosis \| 1 C0376545 \| hematological malignancies \| 1 C0020542 \| pulmonary hypertension \| 1 C0042384 \| vasculitis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:9) 7454 \| WAS \| GHR 10456 \| HAX1 \| CTD_human;GHR;ORPHANET;UNIPROT 84522 \| JAGN1 \| CLINVAR 1441 \| CSF3R \| CLINVAR 2672 \| GFI1 \| GHR 10312 \| TCIRG1 \| CLINVAR 1991 \| ELANE \| GHR 11311 \| VPS45 \| CTD_human 92579 \| G6PC3 \| GHR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 10456 \| HAX1 \| CTD_human 11311 \| VPS45 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:29) 488 \| ATP2A2 \| 1.625 \| DISEASES 65250 \| C5orf42 \| 3.51 \| DISEASES 820 \| CAMP \| 2.624 \| DISEASES 64170 \| CARD9 \| 1.388 \| DISEASES 1050 \| CEBPA \| 3.398 \| DISEASES 55636 \| CHD7 \| 1.716 \| DISEASES 1154 \| CISH \| 1.945 \| DISEASES 1192 \| CLIC1 \| 1.906 \| DISEASES 1441 \| CSF3R \| 6.714 \| DISEASES 1740 \| DLG2 \| 1.798 \| DISEASES 2209 \| FCGR1A \| 1.303 \| DISEASES 8328 \| GFI1B \| 3.391 \| DISEASES 10456 \| HAX1 \| 6.887 \| DISEASES 3459 \| IFNGR1 \| 2.262 \| DISEASES 3717 \| JAK2 \| 1.531 \| DISEASES 3993 \| LLGL2 \| 2.609 \| DISEASES 4067 \| LYN \| 1.401 \| DISEASES 5606 \| MAP2K3 \| 1.097 \| DISEASES 4352 \| MPL \| 2.892 \| DISEASES 10443 \| N4BP2L2 \| 3.411 \| DISEASES 51701 \| NLK \| 1.992 \| DISEASES 388677 \| NOTCH2NL \| 2.255 \| DISEASES 9021 \| SOCS3 \| 1.096 \| DISEASES 6714 \| SRC \| 1.429 \| DISEASES 6772 \| STAT1 \| 1.7 \| DISEASES 6776 \| STAT5A \| 3.153 \| DISEASES 157680 \| VPS13B \| 1.102 \| DISEASES 11311 \| VPS45 \| 4.368 \| DISEASES 7454 \| WAS \| 2.768 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1561
Disease	severe congenital neutropenia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:12) HP:0001909 \| Leukemia \| 2 HP:0010702 \| Hypergammaglobulinaemia \| 1 HP:0002633 \| Vasculitis \| 1 HP:0001602 \| Laryngeal stenosis \| 1 HP:0000488 \| Noninflammatory retina disease \| 1 HP:0012210 \| Kidney malformation \| 1 HP:0002863 \| Myelodysplastic syndrome \| 1 HP:0000704 \| Pyorrhea \| 1 HP:0001945 \| Fever \| 1 HP:0006721 \| Acute lymphocytic leukemia \| 1 HP:0002092 \| Pulmonary artery hypertension \| 1 HP:0000822 \| Hypertension \| 1

Disease ID	1561
Disease	severe congenital neutropenia
Manually Symptom	(Waiting for update.)
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:19)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121908165	18611981	10456	HAX1	umls:C1853118	BeFree	Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene.	0.366786047	2008	HAX1	1	154273538	C	T
rs121908165	18330843	10456	HAX1	umls:C0340970	BeFree	Further work-up revealed severe congenital neutropenia caused by a homozygous mutation (R86X) in the antiapoptotic molecule HAX1.	0.006786047	2007	HAX1	1	154273538	C	T
rs121908165	18330843	10456	HAX1	umls:C1853118	BeFree	Further work-up revealed severe congenital neutropenia caused by a homozygous mutation (R86X) in the antiapoptotic molecule HAX1.	0.366786047	2007	HAX1	1	154273538	C	T
rs121908165	18611981	10456	HAX1	umls:C0340970	BeFree	Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene.	0.006786047	2008	HAX1	1	154273538	C	T
rs141970914	20220065	10456	HAX1	umls:C1853118	UNIPROT	Digenic mutations in severe congenital neutropenia.	0.366786047	2010	HAX1	1	154274959	G	A
rs179363870	19796188	10456	HAX1	umls:C1853118	UNIPROT	A novel missense mutation in the HAX1 gene in severe congenital neutropenia patients (Kostmann disease).	0.366786047	2009	HAX1	1	154273878	T	C
rs179363871	20220065	10456	HAX1	umls:C1853118	UNIPROT	Digenic mutations in severe congenital neutropenia.	0.366786047	2010	HAX1	1	154273846	T	G
rs587777727	NA	84522	JAGN1	umls:C1853118	CLINVAR	NA	0.120542884	NA	JAGN1	3	9890725	G	A
rs587777728	NA	84522	JAGN1	umls:C1853118	CLINVAR	NA	0.120542884	NA	JAGN1	3	9892955	C	T
rs587777729	NA	84522	JAGN1	umls:C1853118	CLINVAR	NA	0.120542884	NA	JAGN1	3	9890785	G	T
rs587777730	NA	84522	JAGN1	umls:C1853118	CLINVAR	NA	0.120542884	NA	JAGN1	3	9893310	A	G
rs587777731	NA	84522	JAGN1	umls:C1853118	CLINVAR	NA	0.120542884	NA	JAGN1	3	9890757	CCGACGGCA	-
rs587779413	NA	10312	TCIRG1	umls:C0340970	CLINVAR	NA	0.120271442	NA	TCIRG1	11	68050224	C	A
rs606231473	NA	1441	CSF3R	umls:C1853118	CLINVAR	NA	0.134929303	NA	CSF3R	1	36472313	G	A
rs606231474	NA	1441	CSF3R	umls:C1853118	CLINVAR	NA	0.134929303	NA	CSF3R	1	36471473	C	-
rs606231475	NA	1441	CSF3R	umls:C1853118	CLINVAR	NA	0.134929303	NA	CSF3R	1	36472272	CCAGTCGCTCCAGTGG	-
rs777966677	NA	84522	JAGN1	umls:C1853118	CLINVAR	NA	0.120542884	NA	JAGN1	3	9890781	G	A
rs786205704	NA	84522	JAGN1	umls:C1853118	CLINVAR	NA	0.120542884	NA	JAGN1	3	9890762	G	A
rs786205705	NA	84522	JAGN1	umls:C1853118	CLINVAR	NA	0.120542884	NA	JAGN1	3	9893122	C	G

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.)

Disease ID	1561
Disease	severe congenital neutropenia
Case	(Waiting for update.)