WHIM syndrome 1 - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	WHIM syndrome 1	go back to main search page
Accession:	DOID:0060591	browse the term
Definition:	An immunodeficiency disease that is characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus infection and that has_material_basis_in heterozygous mutation in the CXCR4 gene on chromosome 2q22. (DO)
Synonyms:	exact_synonym:	WHIM syndrome 1; WHIMS; WHIMS1; warts, hypogammaglobulinemia, infections, and myelokathexis syndrome 1
	broad_synonym:	warts, hypogammaglobulinemia, infections, and myelokathexis; warts, hypogammaglobulinemia, infections, and myelokathexis syndrome; warts-hypogammaglobulinemia-infections-myelokathexis syndrome
	primary_id:	MESH:C536697
	alt_id:	OMIM:193670
	xref:	GARD:9297; NCI:C176819

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Genes (9)

WHIM syndrome 1

term browser

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-X-C motif chemokine receptor 4

DNA:frame shift, nonsense mutations:cds:1016_1017delCT,p.R334X,E343X(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: WHIM syndrome 1 | ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis

OMIM
CTD
ClinVar
RGD

PMID:12692554 PMID:15026312 PMID:15536153 PMID:16275383 PMID:16899028 More...

NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883

G

aspartyl-tRNA synthetase 1

ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis

NCBI chr13:39,857,936...39,913,055
Ensembl chr13:39,857,936...39,913,116

G

lactase

ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis

NCBI chr13:39,781,929...39,824,456
Ensembl chr13:39,781,929...39,824,456

G

minichromosome maintenance complex component 6

ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis

NCBI chr13:39,826,745...39,851,937
Ensembl chr13:39,826,763...39,851,960

G

microRNA 128-1

ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis

NCBI chr13:39,699,449...39,699,530
Ensembl chr13:39,699,449...39,699,530

G

R3H domain containing 1

ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis

NCBI chr13:39,595,848...39,733,876
Ensembl chr13:39,595,848...39,733,876

G

RAB3 GTPase activating protein catalytic subunit 1

ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis

NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169

G

UBX domain protein 4

ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis

NCBI chr13:39,740,077...39,772,347
Ensembl chr13:39,740,107...39,772,491

G

zinc finger RANBP2-type containing 3

ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis

NCBI chr13:39,440,653...39,595,782
Ensembl chr13:39,440,889...39,595,670

Term paths to the root

Path 1
Term	Annotations
disease	21089
syndrome	10784
primary immunodeficiency disease	4108
WHIM Syndrome	10
WHIM syndrome 1	9
Path 2
Term	Annotations
disease	21089
disease of anatomical entity	18156
Urogenital Diseases	4936
Female Urogenital Diseases and Pregnancy Complications	2344
Female Urogenital Diseases	1941
female reproductive system disease	1938
uterine disease	508
cervix disease	235
Uterine Cervical Neoplasms	235
papillomavirus infectious disease	69
skin papilloma	49
WHIM syndrome 1	9

paths to the root