Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80025
Gene Symbol: PANK2
PANK2 		0.010 GeneticVariation disease BEFREE The siblings had the same mutation in PANK2 and had common clinical signs such as misalignment of teeth, a high arched palate, hollow feet, a slight cognitive decline, and an apparent executive dysfunction, although they showed different patterns of movement disorders. 20006850 2010
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		0.100 GeneticVariation disease CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2 		0.100 GeneticVariation disease CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
Entrez Id: 5885
Gene Symbol: RAD21
RAD21 		0.100 GeneticVariation disease CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
Entrez Id: 84294
Gene Symbol: UTP23
UTP23 		0.100 GeneticVariation disease CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		0.100 CausalMutation disease CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.100 CausalMutation disease CLINVAR Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204 2015
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.100 GeneticVariation disease CLINVAR A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease. 24121961 2014
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.100 CausalMutation disease CLINVAR Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. 22426309 2012
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		0.100 CausalMutation disease 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 disease CLINVAR New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. 15596759 2004
Entrez Id: 526
Gene Symbol: ATP6V1B2
ATP6V1B2 		0.100 Biomarker disease HPO
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB 		0.100 Biomarker disease HPO
Entrez Id: 200205
Gene Symbol: IBA57
IBA57 		0.100 Biomarker disease HPO
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		0.100 CausalMutation disease CLINVAR
Entrez Id: 3188
Gene Symbol: HNRNPH2
HNRNPH2 		0.100 Biomarker disease HPO
Entrez Id: 4921
Gene Symbol: DDR2
DDR2 		0.100 Biomarker disease HPO
Entrez Id: 145258
Gene Symbol: GSC
GSC 		0.100 Biomarker disease HPO
Entrez Id: 4570
Gene Symbol: TRNN
TRNN 		0.100 Biomarker disease HPO
Entrez Id: 9775
Gene Symbol: EIF4A3
EIF4A3 		0.100 Biomarker disease HPO
Entrez Id: 55687
Gene Symbol: TRMU
TRMU 		0.100 Biomarker disease HPO
Entrez Id: 9451
Gene Symbol: EIF2AK3
EIF2AK3 		0.100 Biomarker disease HPO
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B 		0.100 Biomarker disease HPO
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1 		0.100 Biomarker disease HPO
Entrez Id: 57231
Gene Symbol: SNX14
SNX14 		0.100 Biomarker disease HPO