Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
0.100 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736

2019

Entrez Id: 79876
Gene Symbol: UBA5
UBA5
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
0.100 CausalMutation CLINVAR

Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
0.100 GeneticVariation CLINVAR

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
0.100 CausalMutation CLINVAR

Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
0.100 GeneticVariation CLINVAR

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
0.100 CausalMutation CLINVAR

Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
0.100 GeneticVariation CLINVAR

Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
0.100 GeneticVariation CLINVAR

Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
0.100 CausalMutation CLINVAR

Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
0.100 CausalMutation CLINVAR

Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
0.100 CausalMutation CLINVAR

Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
0.100 GeneticVariation CLINVAR

Entrez Id: 22930
Gene Symbol: RAB3GAP1
RAB3GAP1
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
0.100 CausalMutation CLINVAR

Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
0.100 CausalMutation CLINVAR

Entrez Id: 6786
Gene Symbol: STIM1
STIM1
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
0.100 GeneticVariation CLINVAR

Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
0.100 CausalMutation CLINVAR

Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
0.100 GeneticVariation CLINVAR

Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
0.100 CausalMutation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
0.100 CausalMutation CLINVAR

Entrez Id: 79228
Gene Symbol: THOC6
THOC6
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
0.100 CausalMutation CLINVAR

Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
0.100 CausalMutation CLINVAR

Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
0.100 CausalMutation CLINVAR

Entrez Id: 79876
Gene Symbol: UBA5
UBA5
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
0.100 GeneticVariation CLINVAR

Entrez Id: 81603
Gene Symbol: TRIM8
TRIM8
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
0.100 GeneticVariation CLINVAR

Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
0.100 CausalMutation CLINVAR