Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation CLINVAR

Entrez Id: 8239
Gene Symbol: USP9X
USP9X
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation CLINVAR

Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation CLINVAR

Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation CLINVAR

Entrez Id: 26610
Gene Symbol: ELP4
ELP4
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation CLINVAR

Entrez Id: 9990
Gene Symbol: SLC12A6
SLC12A6
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation CLINVAR

Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation CLINVAR

Entrez Id: 2259
Gene Symbol: FGF14
FGF14
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation CLINVAR

Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		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: 23522
Gene Symbol: KAT6B
KAT6B
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation CLINVAR

Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation CLINVAR

Entrez Id: 4298
Gene Symbol: MLLT1
MLLT1
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation CLINVAR

Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation CLINVAR

Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699

2017
Entrez Id: 8925
Gene Symbol: HERC1
HERC1
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation CLINVAR A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum. 27108999

2016
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation CLINVAR

Entrez Id: 58508
Gene Symbol: KMT2C
KMT2C
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation CLINVAR

Entrez Id: 6786
Gene Symbol: STIM1
STIM1
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation CLINVAR

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation CLINVAR

Entrez Id: 6901
Gene Symbol: TAZ
TAZ
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation CLINVAR

Entrez Id: 84910
Gene Symbol: TMEM87B
TMEM87B
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation CLINVAR Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy. 27148590

2016
Entrez Id: 8726
Gene Symbol: EED
EED
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation CLINVAR

Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation CLINVAR

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation CLINVAR

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation CLINVAR