Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 574455
Gene Symbol: MIR193B
MIR193B 		0.010 Biomarker disease BEFREE We tested the involvement of hsa-miR-193b-3p in the microtia patient remnant auricular chondrocyte extracellular matrix (ECM). 31492826 2019
Entrez Id: 776
Gene Symbol: CACNA1D
CACNA1D 		0.010 Biomarker disease BEFREE The low-frequency variants association study was used and highlighted several strong candidate genes <i>MUC4, MUC6, COL4A4, MYO7A, AKAP12, COL11A1, DSPP, ESPN, GPR98, PCDH15, BSN, CACNA1D, TPRN</i>, and <i>USH1C</i> for microtia (<i>P</i> = 2.51 × 10<sup>-4</sup>). 28968992 2017
Entrez Id: 8575
Gene Symbol: PRKRA
PRKRA 		0.010 Biomarker disease BEFREE We therefore report a mutational analysis of GSC, HOXA2 and PRKRA in 106 congenital microtia patients without any combined malformation to explore the relationship between GSC, HOXA2, PRKRA and nonsyndromic microtia. 28109504 2017
Entrez Id: 132884
Gene Symbol: EVC2
EVC2 		0.010 GeneticVariation disease BEFREE Of note, we identified one EVC2 non-synonymous mutation (p.Asp1174Asn) as a potential disease-implicating variant for a human microtia-associated syndrome. 26035869 2015
Entrez Id: 406985
Gene Symbol: MIR200C
MIR200C 		0.010 AlteredExpression disease BEFREE The expression of has-miR-203, has-miR-200c and has-miR-451 were significantly different in microtia. 26282502 2015
Entrez Id: 3198
Gene Symbol: HOXA1
HOXA1 		0.010 GeneticVariation disease BEFREE Here we first demonstrated that a truncating mutation in HOXA1 causes a monogenic disorder of microtia in pigs. 26035869 2015
Entrez Id: 406986
Gene Symbol: MIR203A
MIR203A 		0.010 AlteredExpression disease BEFREE The expression of has-miR-203, has-miR-200c and has-miR-451 were significantly different in microtia. 26282502 2015
Entrez Id: 574411
Gene Symbol: MIR451A
MIR451A 		0.010 AlteredExpression disease BEFREE The expression of has-miR-203, has-miR-200c and has-miR-451 were significantly different in microtia. 26282502 2015
Entrez Id: 545
Gene Symbol: ATR
ATR 		0.010 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: 10736
Gene Symbol: SIX2
SIX2 		0.010 Biomarker disease BEFREE Mutational analysis of HOXA2 and SIX2 in a Bronx population with isolated microtia. 20542577 2010
Entrez Id: 6223
Gene Symbol: RPS19
RPS19 		0.010 Biomarker disease BEFREE Bilateral microtia and cleft palate in cousins with Diamond-Blackfan anemia. 11424144 2001
Entrez Id: 51053
Gene Symbol: GMNN
GMNN 		0.100 CausalMutation disease CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015
Entrez Id: 7469
Gene Symbol: NELFA
NELFA 		0.100 Biomarker disease HPO
Entrez Id: 79633
Gene Symbol: FAT4
FAT4 		0.100 Biomarker disease HPO
Entrez Id: 5058
Gene Symbol: PAK1
PAK1 		0.100 Biomarker disease HPO
Entrez Id: 23019
Gene Symbol: CNOT1
CNOT1 		0.100 Biomarker disease HPO
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		0.100 Biomarker disease HPO
Entrez Id: 51339
Gene Symbol: DACT1
DACT1 		0.100 Biomarker disease HPO
Entrez Id: 284252
Gene Symbol: KCTD1
KCTD1 		0.100 Biomarker disease HPO
Entrez Id: 51099
Gene Symbol: ABHD5
ABHD5 		0.100 Biomarker disease HPO
Entrez Id: 89970
Gene Symbol: RSPRY1
RSPRY1 		0.100 Biomarker disease HPO
Entrez Id: 340419
Gene Symbol: RSPO2
RSPO2 		0.100 Biomarker disease HPO
Entrez Id: 81887
Gene Symbol: LAS1L
LAS1L 		0.100 Biomarker disease HPO
Entrez Id: 6234
Gene Symbol: RPS28
RPS28 		0.100 Biomarker disease HPO
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		0.100 Biomarker disease HPO