×
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
×
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