Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 51119
Gene Symbol: SBDS
SBDS 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 55253
Gene Symbol: TYW1
TYW1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.100 CausalMutation phenotype CLINVAR Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. 22426309 2012
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B 		0.100 CausalMutation phenotype CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017
Entrez Id: 5476
Gene Symbol: CTSA
CTSA 		0.100 CausalMutation phenotype CLINVAR Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. 10944848 2000
Entrez Id: 6473
Gene Symbol: SHOX
SHOX 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 862
Gene Symbol: RUNX1T1
RUNX1T1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.100 CausalMutation phenotype CLINVAR Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes. 18372317 2008
Entrez Id: 63901
Gene Symbol: FAM111A
FAM111A 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 49855
Gene Symbol: SCAPER
SCAPER 		0.100 CausalMutation phenotype CLINVAR SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. 30723319 2019
Entrez Id: 112939
Gene Symbol: NACC1
NACC1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5286
Gene Symbol: PIK3C2A
PIK3C2A 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 7399
Gene Symbol: USH2A
USH2A 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 6016
Gene Symbol: RIT1
RIT1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 100289211
Gene Symbol: LINC00624
LINC00624 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 23498
Gene Symbol: HAAO
HAAO 		0.100 CausalMutation phenotype CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.100 CausalMutation phenotype CLINVAR Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model. 20883824 2011