Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
0.410 GeneticVariation disease BEFREE The three patients of the first family displayed the typical features underlying PQBP1 such as the long triangular face, bulbous nose, hypoplastic malar region, and micrognathia, which were subsequently confirmed using targeted sequence analysis that showed a previously reported nonsense mutation c.586C>T p.R196*. 30244542 2018
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
0.410 Biomarker disease GENOMICS_ENGLAND The three patients of the first family displayed the typical features underlying PQBP1 such as the long triangular face, bulbous nose, hypoplastic malar region, and micrognathia, which were subsequently confirmed using targeted sequence analysis that showed a previously reported nonsense mutation c.586C>T p.R196*. 30244542 2018
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
0.410 Biomarker disease HPO
Entrez Id: 25885
Gene Symbol: POLR1A
POLR1A
0.400 Biomarker disease GENOMICS_ENGLAND Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome. 25434003 2014
Entrez Id: 25885
Gene Symbol: POLR1A
POLR1A
0.400 Biomarker disease HPO
Entrez Id: 23057
Gene Symbol: NMNAT2
NMNAT2
0.300 Biomarker disease GENOMICS_ENGLAND Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence. 31136762 2019
Entrez Id: 23057
Gene Symbol: NMNAT2
NMNAT2
0.300 Biomarker disease GENOMICS_ENGLAND Nicotinamide mononucleotide adenylyltransferase 2 (Nmnat2) regulates axon integrity in the mouse embryo. 23082226 2012
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
0.120 GeneticVariation disease BEFREE Besides orofacial clefting due to haploinsufficiency of IRF6, recent human genetic studies indicated that mutations in IRF6 are linked to small mandible and digit abnormalities. 30684382 2019
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
0.120 Biomarker disease BEFREE The disruption of IRF6 resulted in abnormal orofacial development including micrognathia and intraoral adhesions as well as tongue-palate fusion, then resulting in glossoptosis with airway obstruction and cleft palate. 29708799 2019
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
0.120 Biomarker disease HPO
Entrez Id: 29980
Gene Symbol: DONSON
DONSON
0.110 GeneticVariation disease BEFREE We also identified a de novo c.683G > T p.(Trp228Leu) variant in DONSON in a patient with prominent micrognathia, short stature and hypoplastic femur and tibia, clinically diagnosed with Femoral-Facial syndrome (FFS, OMIM 134780). 31407851 2019
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B
0.110 GeneticVariation disease BEFREE A 13-month-old Caucasian girl of Irish and Spanish ancestry was noted to have micrognathia and laryngomalacia at birth, which prompted a genetic evaluation that revealed biallelic deletions in COH1 (VPS13B) (a maternally inherited 60-kb deletion involving exons 26-32 and a paternally inherited 3.5-kb deletion within exon 17) consistent with Cohen syndrome. 29634382 2018
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
0.110 GeneticVariation disease BEFREE Histological analysis of Tbx1-knockout palate with complete cleft palate at postnatal day 1 showed aplasia of secondary palates associated with a small mandible and a small tongue compared to wild type littermates. 30121012 2018
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
0.110 GeneticVariation disease BEFREE We then determine the critical tissue interactions using mice carrying a conditional mutation in the cilia gene Ofd1 Our studies highlight the usefulness of the Ofd1 mouse model and illustrate long-term possibilities for understanding the cellular and biochemical events underlying micrognathia. 27913686 2016
Entrez Id: 9968
Gene Symbol: MED12
MED12
0.110 GeneticVariation disease BEFREE Two male sibs with severe micrognathia and a missense variant in MED12. 27286923 2016
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
0.110 GeneticVariation disease BEFREE Craniofacial abnormalities associated with OPDS include supraorbital hyperostosis, down-slanting palpebral fissures and micrognathia; craniosynostosis was previously described in association with FLNA mutations in two individual case reports. 25873011 2015
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
0.110 GeneticVariation disease BEFREE We demonstrate that prenatally-detected phenotypes of CdLS, particularly severe micrognathia and bilateral upper limb defects, are associated with an increased frequency of NIPBL mutations. 24218399 2014
Entrez Id: 6885
Gene Symbol: MAP3K7
MAP3K7
0.110 Biomarker disease BEFREE The failure in palate elevation in Wnt1-Cre;Tak1(F/F) mice results from a malformed tongue and micrognathia, resembling human Pierre Robin sequence cleft of the secondary palate. 23460641 2013
Entrez Id: 545
Gene Symbol: ATR
ATR
0.110 Biomarker disease BEFREE ATR-ATRIP patients are characterised by extremely severe microcephaly and growth delay, microtia (small ears), micrognathia (small and receding chin), and dental crowding. 23144622 2012
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
0.110 GeneticVariation disease BEFREE We conclude that in patients with MAD due to ZMPSTE24 mutations, the onset of disease manifestations such as thin skin and micrognathia occurs as early as 5 months of age. 20814950 2010
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
0.110 GeneticVariation disease BEFREE A review of the literature shows that small birth size, short stature, small head size, relatively high IGF-I levels, developmental delay, and micrognathia are the main predictors for an IGF1R deletion. 19864454 2009
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
0.110 GeneticVariation disease BEFREE Two putatively disease-associated sequence variations were found in COL11A1 in Robin sequence patients, one in COL11A2 in a patient with micrognathia and one in COL2A1 in two patients with Robin sequence. 12673280 2003
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.110 GeneticVariation disease BEFREE Two putatively disease-associated sequence variations were found in COL11A1 in Robin sequence patients, one in COL11A2 in a patient with micrognathia and one in COL2A1 in two patients with Robin sequence. 12673280 2003
Entrez Id: 6309
Gene Symbol: SC5D
SC5D
0.110 AlteredExpression disease BEFREE Sc5d (-/-) pups were stillborn, had elevated lathosterol and decreased cholesterol levels, had craniofacial defects including cleft palate and micrognathia, and limb patterning defects. 12812989 2003
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
0.110 Biomarker disease HPO