Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1 		0.100 CausalMutation phenotype CLINVAR An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1. 30965144 2020
Entrez Id: 6659
Gene Symbol: SOX4
SOX4 		0.100 GeneticVariation phenotype CLINVAR De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. 30661772 2019
Entrez Id: 89953
Gene Symbol: KLC4
KLC4 		0.100 GeneticVariation phenotype CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
Entrez Id: 9820
Gene Symbol: CUL7
CUL7 		0.100 GeneticVariation phenotype CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
Entrez Id: 25
Gene Symbol: ABL1
ABL1 		0.100 CausalMutation phenotype CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
Entrez Id: 7287
Gene Symbol: TULP1
TULP1 		0.100 CausalMutation phenotype CLINVAR Antioxidant effect of aqueous extract of four plants with therapeutic potential on gynecological diseases; Semen persicae, Leonurus cardiaca, Hedyotis diffusa, and Curcuma zedoaria. 29178942 2017
Entrez Id: 51053
Gene Symbol: GMNN
GMNN 		0.100 CausalMutation phenotype CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		0.100 CausalMutation phenotype CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381 2015
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		0.100 GeneticVariation phenotype CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381 2015
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		0.100 CausalMutation phenotype 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 		0.100 CausalMutation phenotype CLINVAR New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. 15596759 2004
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 54870
Gene Symbol: QRICH1
QRICH1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 101929328
Gene Symbol: KCNMA1-AS1
KCNMA1-AS1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1188
Gene Symbol: CLCNKB
CLCNKB 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 23332
Gene Symbol: CLASP1
CLASP1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 91949
Gene Symbol: COG7
COG7 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8 		0.100 CausalMutation phenotype CLINVAR