NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defectsRanBP2 modulates Cox11 and hexokinase I activities and haploinsufficiency of RanBP2 causes deficits in glucose metabolismHaploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communicationCHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problemsPhenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2Haploinsufficient Bmp4 ocular phenotypes include anterior segment dysgenesis with elevated intraocular pressureLamin A/C haploinsufficiency modulates the differentiation potential of mouse embryonic stem cellsHaploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratodermaEvidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndromeDown syndrome as a model of DNA polymerase beta haploinsufficiency and accelerated agingHaploinsufficiency of the human homeobox gene ALX4 causes skull ossification defectsCOL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome IIHaploinsufficiency of the forkhead gene Foxf1, a target for sonic hedgehog signaling, causes lung and foregut malformationsChoreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiencyEvidence for haploinsufficiency of the human HNF1alpha gene revealed by functional characterization of MODY3-associated mutationsHaploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobinFoxe3 haploinsufficiency in mice: a model for Peters' anomalyKras(G12D) and Smad4/Dpc4 haploinsufficiency cooperate to induce mucinous cystic neoplasms and invasive adenocarcinoma of the pancreasNovel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiencyKras(G12D) and Nkx2-1 haploinsufficiency induce mucinous adenocarcinoma of the lungDown-regulation of ubiquitin ligase Cbl induced by twist haploinsufficiency in Saethre-Chotzen syndrome results in increased PI3K/Akt signaling and osteoblast proliferationGLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrierHaploinsufficiency of TAB2 causes congenital heart defects in humansTargeted disruption of Pax1 defines its null phenotype and proves haploinsufficiencyTargeted deletion of Tssk1 and 2 causes male infertility due to haploinsufficiency.Pumilio1 haploinsufficiency leads to SCA1-like neurodegeneration by increasing wild-type Ataxin1 levelsHaploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementiaHaploinsufficiency of SAMD9L, an endosome fusion facilitator, causes myeloid malignancies in mice mimicking human diseases with monosomy 7Deletion of the telomerase reverse transcriptase gene and haploinsufficiency of telomere maintenance in Cri du chat syndromeHaploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndromeHaploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenitaHaploinsufficiency of the Mus81-Eme1 endonuclease activates the intra-S-phase and G2/M checkpoints and promotes rereplication in human cellsCOL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDSBeclin 1, an autophagy gene essential for early embryonic development, is a haploinsufficient tumor suppressorResearch resource: Haploinsufficiency of receptor activity-modifying protein-2 (RAMP2) causes reduced fertility, hyperprolactinemia, skeletal abnormalities, and endocrine dysfunction in miceTrisomy-21 gene dosage over-expression of miRNAs results in the haploinsufficiency of specific target proteinsHaploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephalyFoxO1 haploinsufficiency protects against high-fat diet-induced insulin resistance with enhanced peroxisome proliferator-activated receptor gamma activation in adipose tissueOxytocin deficiency mediates hyperphagic obesity of Sim1 haploinsufficient mice
P921
Q21092495-E922BFE2-205B-4C33-8CF0-AC5046B83580Q21145250-FA6866FB-A405-488D-8DD9-4148EA3105FBQ21198697-9E7BB81C-B7BD-42D3-B37A-F6E44BF68A3CQ21198723-25961CA0-FD11-4319-A78B-57B28ABD77A8Q21202852-669D4FD5-0387-4C92-8116-9A8933E10425Q21283801-BBB4116F-D5DC-463B-A9F4-E0C15FF6446CQ21521421-6ADDA1DD-97E6-461C-BAD7-9A53AEF952C7Q22008664-2EBC1463-A61F-438B-AB4B-D27A9E03736EQ22065344-5D3DD572-C559-4199-B404-6789F7D7189AQ22252371-95F0ADF9-606C-49FC-B180-713132020EE4Q24290691-3D7A9F1C-C0BF-4EF8-AF69-C5FBABBBDE24Q24291045-DF3B59AD-8CDC-414D-B9E2-ABA993919CD7Q24291542-A073A5EC-C85E-4360-9163-8AB594BCACD4Q24292331-36F0C981-BA0C-45F7-95CC-10BA33678F35Q24292735-BC6154AE-4678-45D2-A6D8-5C030D3B7690Q24293004-71470482-06F0-45D3-AF3B-02F797748AE7Q24293797-1C259F50-76D3-4261-BFAA-3B216C50D5D8Q24295297-0B576562-402B-4B82-8EC1-0EA36A9F025DQ24299520-4DDCD422-184A-45F5-AF1A-65A62551B8A0Q24300862-223DF4C5-804B-4EBB-B4DE-7158BBEECC47Q24303485-E5C2255F-DB75-4CDB-A6DB-4241EE4C09A0Q24304940-EA072414-170C-4B98-B519-092A3FDC9852Q24309065-02C4E044-E1B5-46D2-9687-6B99DBB62701Q24314581-E5E4E32F-E3DE-4DC0-A750-8441F0868298Q24316993-CFEA8039-C8CD-49C7-B3BA-464B2E28C91CQ24319175-4310D645-A78A-4422-9A0F-9902A530AF17Q24322711-A7B0C8FF-E22D-4201-AF4A-F2B59FBCBC1DQ24323876-12A265D7-1E86-4E61-B5CC-EDF64BB0D956Q24328884-404620AD-FE30-4D8D-B294-6DB77D997712Q24532112-0103F47C-E394-4850-8422-5DDBBD7E9591Q24534695-70510DFD-24C0-4104-8032-4E63F0AEADA7Q24536887-EE394F7B-648D-47DE-B8F1-1AE0167EED16Q24537482-EC55CA32-2540-48AF-9DD9-3A80ECF8AC72Q24540243-714CE381-BB8F-447B-AF2F-503222726190Q24569647-89136098-A410-4A25-9BC3-3728C650CC4BQ24603724-33E0CE45-18B1-4973-87DB-6D9F2ADEC5C7Q24622025-69612F70-EB19-4610-8994-EFD2BC259CF9Q24633650-BEE1BE0B-27D6-4CA8-AADF-8ECB9FC581CCQ24643006-68C37387-6383-4F47-B663-7722C8895D57Q24644715-36750886-6736-4C31-AEE2-8CCEA4ECB057
P921
description
mechanism of action to explain ...... sm has lost one copy of a gene
@en
name
Haploid elégtelenség
@hu
Haploinsuffizienz
@de
Haploinsuficjencja
@pl
Haploinsufisiensi
@id
haploinsufficiency
@en
haploinsuffisance
@fr
haploinsuffisiens
@nn
haploinsuficiencia
@es
ハプロ不全
@ja
單一等位基因不足性
@zh
type
label
Haploid elégtelenség
@hu
Haploinsuffizienz
@de
Haploinsuficjencja
@pl
Haploinsufisiensi
@id
haploinsufficiency
@en
haploinsuffisance
@fr
haploinsuffisiens
@nn
haploinsuficiencia
@es
ハプロ不全
@ja
單一等位基因不足性
@zh
prefLabel
Haploid elégtelenség
@hu
Haploinsuffizienz
@de
Haploinsuficjencja
@pl
Haploinsufisiensi
@id
haploinsufficiency
@en
haploinsuffisance
@fr
haploinsuffisiens
@nn
haploinsuficiencia
@es
ハプロ不全
@ja
單一等位基因不足性
@zh
P486
P6366
P646
P373
Haploinsufficiency
P3827
haploinsufficiency