Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.110 CausalMutation CLINVAR

Entrez Id: 545
Gene Symbol: ATR
ATR
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.110 GeneticVariation CLINVAR

Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.110 GeneticVariation CLINVAR

Entrez Id: 84294
Gene Symbol: UTP23
UTP23
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677

2019
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677

2019
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008

2017
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113

2017
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 CausalMutation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980

2015
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 GeneticVariation CLINVAR

Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 GeneticVariation CLINVAR

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 CausalMutation CLINVAR

Entrez Id: 2121
Gene Symbol: EVC
EVC
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 CausalMutation CLINVAR

Entrez Id: 1400
Gene Symbol: CRMP1
CRMP1
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 CausalMutation CLINVAR

Entrez Id: 79053
Gene Symbol: ALG8
ALG8
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 CausalMutation CLINVAR

Entrez Id: 285175
Gene Symbol: UNC80
UNC80
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 GeneticVariation CLINVAR

Entrez Id: 79868
Gene Symbol: ALG13
ALG13
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 CausalMutation CLINVAR

Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 CausalMutation CLINVAR

Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 CausalMutation CLINVAR

Entrez Id: 51132
Gene Symbol: RLIM
RLIM
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 GeneticVariation CLINVAR

Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 CausalMutation CLINVAR

Entrez Id: 22827
Gene Symbol: PUF60
PUF60
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 GeneticVariation CLINVAR

Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 CausalMutation CLINVAR

Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 CausalMutation CLINVAR