Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1 		0.300 Biomarker phenotype CTD_human Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. 22544367 2012
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1 		0.300 Biomarker phenotype CTD_human Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. 22544363 2012
Entrez Id: 113189
Gene Symbol: CHST14
CHST14 		0.300 Biomarker phenotype CTD_human Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene. 20842734 2010
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.300 Biomarker phenotype CTD_human A novel MECP2 mutation in a boy with neonatal encephalopathy and facial dysmorphism. 19559301 2009
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B 		0.300 Biomarker phenotype CTD_human A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion. 19138848 2009
Entrez Id: 3954
Gene Symbol: LETM1
LETM1 		0.300 Biomarker phenotype CTD_human LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein. 14706454 2004
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		0.300 Biomarker phenotype CTD_human 4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency. 10407778 1999
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.100 Biomarker phenotype HPO
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2 		0.100 Biomarker phenotype HPO
Entrez Id: 89910
Gene Symbol: UBE3B
UBE3B 		0.100 Biomarker phenotype HPO
Entrez Id: 51763
Gene Symbol: INPP5K
INPP5K 		0.100 Biomarker phenotype HPO
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.100 Biomarker phenotype HPO
Entrez Id: 5339
Gene Symbol: PLEC
PLEC 		0.100 Biomarker phenotype HPO
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		0.100 Biomarker phenotype HPO
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.100 Biomarker phenotype HPO
Entrez Id: 64374
Gene Symbol: SIL1
SIL1 		0.100 Biomarker phenotype HPO
Entrez Id: 3652
Gene Symbol: IPP
IPP 		0.010 Biomarker phenotype BEFREE IPP is considered a superior option to malleable prosthesis as it produces penile rigidity and flaccidity that closely replicates a normal penile erectile function. 28217449 2017