Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		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: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699

2017
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400

2016
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 CausalMutation CLINVAR Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations. 26650189

2016
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 CausalMutation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980

2015
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 CausalMutation CLINVAR Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition. 25803691

2015
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 CausalMutation CLINVAR Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history. 23167872

2013
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 CausalMutation CLINVAR A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. 22012259

2011
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 CausalMutation CLINVAR [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis]. 19065518

2008
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 CausalMutation CLINVAR New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. 15596759

2004
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 CausalMutation CLINVAR

Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 GeneticVariation CLINVAR

Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 CausalMutation CLINVAR

Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 GeneticVariation CLINVAR

Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 GeneticVariation CLINVAR

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 CausalMutation CLINVAR

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 GeneticVariation CLINVAR

Entrez Id: 196528
Gene Symbol: ARID2
ARID2
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 CausalMutation CLINVAR

Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 CausalMutation CLINVAR

Entrez Id: 11253
Gene Symbol: MAN1B1
MAN1B1
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 GeneticVariation CLINVAR

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 CausalMutation CLINVAR

Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 CausalMutation CLINVAR

Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 CausalMutation CLINVAR

Entrez Id: 5189
Gene Symbol: PEX1
PEX1
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 CausalMutation CLINVAR

Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 CausalMutation CLINVAR