Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 CausalMutation CLINVAR

Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 GeneticVariation CLINVAR

Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		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: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 CausalMutation CLINVAR Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204

2015
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 GeneticVariation CLINVAR

Entrez Id: 124454
Gene Symbol: EARS2
EARS2
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 CausalMutation CLINVAR

Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 GeneticVariation CLINVAR

Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		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: 7020
Gene Symbol: TFAP2A
TFAP2A
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 CausalMutation CLINVAR

Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 CausalMutation CLINVAR

Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 GeneticVariation CLINVAR

Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 GeneticVariation CLINVAR

Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 CausalMutation CLINVAR

Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 CausalMutation CLINVAR

Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 CausalMutation CLINVAR Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. 22426309

2012
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 CausalMutation CLINVAR

Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 CausalMutation CLINVAR

Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 CausalMutation CLINVAR New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. 15596759

2004
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 GeneticVariation CLINVAR

Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 CausalMutation CLINVAR

Entrez Id: 6872
Gene Symbol: TAF1
TAF1
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 CausalMutation CLINVAR

Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 GeneticVariation CLINVAR

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 GeneticVariation CLINVAR

Entrez Id: 8701
Gene Symbol: DNAH11
DNAH11
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 GeneticVariation CLINVAR

Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 CausalMutation CLINVAR