Preferred Name

NUCLEAR RECEPTOR-BINDING SET DOMAIN PROTEIN 1

Synonyms

ARA267

ID

http://purl.bioontology.org/ontology/OMIM/606681

altLabel

ARA267

NSD1

ANDROGEN RECEPTOR-ASSOCIATED COREGULATOR 267

NSD1/NUP98 FUSION GENE

SOTOS SYNDROME

SET DOMAIN PROTEIN 1

NUCLEAR RECEPTOR-BINDING Su-var, ENHANCER OF ZESTE, AND TRITHORAX DOMAIN PROTEIN 1

cui

C0175695

C1847677

C1422496

Gene Locus

5q35

Gene Symbol

ARA267

NSD1

STO

SOTOS

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/606681.0008

http://purl.bioontology.org/ontology/OMIM/606681.0010

http://purl.bioontology.org/ontology/OMIM/606681.0011

http://purl.bioontology.org/ontology/OMIM/606681.0003

http://purl.bioontology.org/ontology/OMIM/606681.0005

http://purl.bioontology.org/ontology/OMIM/606681.0012

http://purl.bioontology.org/ontology/OMIM/606681.0004

http://purl.bioontology.org/ontology/OMIM/606681.0009

http://purl.bioontology.org/ontology/OMIM/606681.0002

http://purl.bioontology.org/ontology/OMIM/606681.0001

http://purl.bioontology.org/ontology/OMIM/606681.0013

http://purl.bioontology.org/ontology/OMIM/606681.0007

http://purl.bioontology.org/ontology/OMIM/606681.0006

MIMTYPEMEANING

Gene with known sequence

notation

606681

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

NUCLEAR RECEPTOR-BINDING SET DOMAIN PROTEIN 1

tui

T028

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D058495 Medical Subject Headings / 医学主题词表 CUI
http://www.orpha.net/ORDO/Orphanet_123937 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q87.3 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 CUI
http://purl.bioontology.org/ontology/LNC/LP33287-1 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI