Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		0.100 Biomarker phenotype HPO
Entrez Id: 546
Gene Symbol: ATRX
ATRX 		0.100 Biomarker phenotype HPO
Entrez Id: 567
Gene Symbol: B2M
B2M 		0.100 Biomarker phenotype HPO
Entrez Id: 794
Gene Symbol: CALB2
CALB2 		0.010 Biomarker phenotype BEFREE Calretinin-Immunoreactive Hypoinnervation in Down Syndrome (DS): Report of an Infant with Very Short-Segment Hirschsprung Disease and Comparison to Biopsy Findings in 20 Normal Infants and 11 Infants with DS and Chronic Constipation. 26230373 2016
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1 		0.100 GeneticVariation phenotype CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2 		0.100 Biomarker phenotype HPO
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 23317
Gene Symbol: DNAJC13
DNAJC13 		0.100 Biomarker phenotype HPO
Entrez Id: 1981
Gene Symbol: EIF4G1
EIF4G1 		0.100 Biomarker phenotype HPO
Entrez Id: 2006
Gene Symbol: ELN
ELN 		0.100 Biomarker phenotype HPO
Entrez Id: 2257
Gene Symbol: FGF12
FGF12 		0.100 Biomarker phenotype HPO
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B 		0.100 Biomarker phenotype HPO
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 2629
Gene Symbol: GBA
GBA 		0.100 Biomarker phenotype HPO
Entrez Id: 26058
Gene Symbol: GIGYF2
GIGYF2 		0.100 Biomarker phenotype HPO
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2 		0.100 Biomarker phenotype HPO
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 51085
Gene Symbol: MLXIPL
MLXIPL 		0.100 Biomarker phenotype HPO
Entrez Id: 23417
Gene Symbol: MLYCD
MLYCD 		0.100 Biomarker phenotype HPO
Entrez Id: 3110
Gene Symbol: MNX1
MNX1 		0.100 Biomarker phenotype HPO
Entrez Id: 22880
Gene Symbol: MORC2
MORC2 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 55768
Gene Symbol: NGLY1
NGLY1 		0.100 Biomarker phenotype HPO
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		0.100 CausalMutation phenotype CLINVAR