RGD DISEASE ONTOLOGY - ANNOTATIONS
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: D-2-hydroxyglutaric aciduria 2
Accession: DOID:0111352
browse the term
Definition: A D-2-hydroxyglutaric aciduria that has_material_basis_in heterozygous mutation in IDH2 on 15q26.1. (DO)
Synonyms: exact_synonym: D2HGA2
primary_id: OMIM:613657
G
ABHD2
abhydrolase domain containing 2, acylglycerol lipase
ISO
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2
ClinVar
PMID:28492532
NCBI chr15:67,780,453...67,891,454
Ensembl chr15:86,987,070...87,095,818
G
ACAN
aggrecan
ISO
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2
ClinVar
PMID:28492532
NCBI chr15:67,492,494...67,563,265
Ensembl chr15:86,733,853...86,771,420
G
ANPEP
alanyl aminopeptidase, membrane
ISO
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2
ClinVar
PMID:28492532
NCBI chr15:68,479,349...68,509,238
Ensembl chr15:87,681,826...87,703,713
G
AP3S2
adaptor related protein complex 3 subunit sigma 2
ISO
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2
ClinVar
PMID:28492532
NCBI chr15:68,524,982...68,583,917
G
ARPIN
actin related protein 2/3 complex inhibitor
ISO
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2
ClinVar
PMID:28492532
G
BLM
BLM RecQ like helicase
ISO
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2
ClinVar
PMID:28492532
NCBI chr15:69,407,248...69,508,070
Ensembl chr15:88,607,157...88,707,864
G
CIB1
calcium and integrin binding 1
ISO
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2
ClinVar
PMID:28492532
NCBI chr15:68,919,377...68,923,213
G
CRTC3
CREB regulated transcription coactivator 3
ISO
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2
ClinVar
PMID:28492532
NCBI chr15:69,217,679...69,333,897
Ensembl chr15:88,427,468...88,533,593
G
FANCI
FA complementation group I
ISO
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2
ClinVar
PMID:28492532
NCBI chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271
G
FES
FES proto-oncogene, tyrosine kinase
ISO
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2
ClinVar
PMID:28492532
NCBI chr15:69,576,936...69,588,834
Ensembl chr15:88,774,965...88,786,965
G
FURIN
furin, paired basic amino acid cleaving enzyme
ISO
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2
ClinVar
PMID:28492532
NCBI chr15:69,560,774...69,576,007
Ensembl chr15:88,763,269...88,774,023
G
GDPGP1
GDP-D-glucose phosphorylase 1
ISO
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2
ClinVar
PMID:28492532
NCBI chr15:68,923,301...68,931,353
Ensembl chr15:88,132,147...88,133,304
G
HAPLN3
hyaluronan and proteoglycan link protein 3
ISO
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2
ClinVar
PMID:28492532
NCBI chr15:67,565,957...67,584,352
Ensembl chr15:86,773,882...86,792,120
G
HDDC3
HD domain containing 3
ISO
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2
ClinVar
PMID:28492532
NCBI chr15:69,623,932...69,628,130
G
IDH2
isocitrate dehydrogenase (NADP(+)) 2
ISO
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20171147 PMID:20847235 PMID:20946881 PMID:21647154 PMID:21889589 PMID:22160010 PMID:22397365 PMID:23558173 PMID:23815907 PMID:23949315 PMID:24049096 PMID:24589777 PMID:24606448 PMID:25157968 PMID:25326635 PMID:25398939 PMID:25741868 PMID:26619011 PMID:28166811 PMID:28492532 PMID:30975432 PMID:34641967 More...
NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276
G
IQGAP1
IQ motif containing GTPase activating protein 1
ISO
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2
ClinVar
PMID:28492532
NCBI chr15:69,076,025...69,190,082
Ensembl chr15:88,276,851...88,388,594
G
KIF7
kinesin family member 7
ISO
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2
ClinVar
PMID:28492532
NCBI chr15:68,312,064...68,349,864
Ensembl chr15:87,529,290...87,553,445
G
MAN2A2
mannosidase alpha class 2A member 2
ISO
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2
ClinVar
PMID:28492532
NCBI chr15:69,595,318...69,614,255
Ensembl chr15:88,795,543...88,810,497
G
MESP1
mesoderm posterior bHLH transcription factor 1
ISO
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2
ClinVar
PMID:28492532
NCBI chr15:68,440,626...68,441,935
Ensembl chr15:87,645,768...87,647,210
G
MESP2
mesoderm posterior bHLH transcription factor 2
ISO
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2
ClinVar
PMID:28492532
NCBI chr15:68,470,528...68,473,209
G
MFGE8
milk fat globule EGF and factor V/VIII domain containing
ISO
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2
ClinVar
PMID:28492532
NCBI chr15:67,587,360...67,602,029
Ensembl chr15:86,795,135...86,809,876
G
NGRN
neugrin, neurite outgrowth associated
ISO
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2
ClinVar
PMID:28492532
NCBI chr15:68,954,039...68,960,612
Ensembl chr15:88,156,109...88,162,659
G
PEX11A
peroxisomal biogenesis factor 11 alpha
ISO
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2
ClinVar
PMID:28492532
NCBI chr15:68,375,201...68,384,440
Ensembl chr15:87,581,564...87,590,684
G
PLIN1
perilipin 1
ISO
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2
ClinVar
PMID:28492532
NCBI chr15:68,357,815...68,375,062
Ensembl chr15:87,565,468...87,577,301
G
POLG
DNA polymerase gamma, catalytic subunit
ISO
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2
ClinVar
PMID:28492532
NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
G
PRC1
protein regulator of cytokinesis 1
ISO
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2
ClinVar
PMID:28492532
NCBI chr15:69,659,420...69,687,707
Ensembl chr15:88,856,323...88,884,071
G
RCCD1
RCC1 domain containing 1
ISO
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2
ClinVar
PMID:28492532
NCBI chr15:69,648,220...69,682,408
Ensembl chr15:88,847,116...88,852,057
G
RHCG
Rh family C glycoprotein
ISO
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2
ClinVar
PMID:28492532
NCBI chr15:68,165,708...68,190,964
Ensembl chr15:87,372,238...87,397,011
G
RLBP1
retinaldehyde binding protein 1
ISO
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2
ClinVar
PMID:28492532
NCBI chr15:67,901,276...67,913,911
Ensembl chr15:87,108,815...87,117,971
G
SEMA4B
semaphorin 4B
ISO
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2
ClinVar
PMID:28492532
NCBI chr15:68,873,927...68,918,792
Ensembl chr15:88,076,399...88,120,729
G
TICRR
TOPBP1 interacting checkpoint and replication regulator
ISO
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2
ClinVar
PMID:28492532
NCBI chr15:68,270,029...68,322,201
Ensembl chr15:87,476,738...87,528,870
G
UNC45A
unc-45 myosin chaperone A
ISO
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2
ClinVar
PMID:28492532
NCBI chr15:69,623,199...69,647,468
Ensembl chr15:88,820,444...88,844,502
G
VPS33B
VPS33B late endosome and lysosome associated
ISO
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2
ClinVar
PMID:28492532
NCBI chr15:69,691,717...69,715,617
Ensembl chr15:88,888,093...88,912,327
G
WDR93
WD repeat domain 93
ISO
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2
ClinVar
PMID:28492532
NCBI chr15:68,384,395...68,434,212
Ensembl chr15:87,590,676...87,639,820
G
ZNF710
zinc finger protein 710
ISO
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2
ClinVar
PMID:28492532
NCBI chr15:68,688,203...68,770,188
Ensembl chr15:87,956,415...87,971,119
G
ZNF774
zinc finger protein 774
ISO
ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2
ClinVar
PMID:28492532
NCBI chr15:69,039,595...69,050,747
Ensembl chr15:88,241,732...88,251,483
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all