×
Entrez Id:
51633
Gene Symbol:
OTUD6B
OTUD6B
0.110
CausalMutation
disease
CLINVAR
×
Entrez Id:
51633
Gene Symbol:
OTUD6B
OTUD6B
0.110
GeneticVariation
disease
CLINVAR
×
Entrez Id:
57479
Gene Symbol:
PRR12
PRR12
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
57187
Gene Symbol:
THOC2
THOC2
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
79583
Gene Symbol:
TMEM231
TMEM231
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
3516
Gene Symbol:
RBPJ
RBPJ
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
4528
Gene Symbol:
MTIF2
MTIF2
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
51524
Gene Symbol:
TMEM138
TMEM138
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
1278
Gene Symbol:
COL1A2
COL1A2
0.100
CausalMutation
disease
CLINVAR
Genetic heterogeneity in osteogenesis imperfecta.
458828
1979
×
Entrez Id:
1302
Gene Symbol:
COL11A2
COL11A2
0.100
GeneticVariation
disease
CLINVAR
The Weissenbacher-Zweymuller syndrome of micrognathia and rhizomelic chondrodysplasia at birth with subsequent normal growth.
813535
1975
×
Entrez Id:
59341
Gene Symbol:
TRPV4
TRPV4
0.100
GeneticVariation
disease
CLINVAR
Parastremmatic dwarfism.
956253
1976
×
Entrez Id:
1213
Gene Symbol:
CLTC
CLTC
0.100
CausalMutation
disease
CLINVAR
Clathrin: a unique protein associated with intracellular transfer of membrane by coated vesicles.
1063406
1976
×
Entrez Id:
51651
Gene Symbol:
PTRH2
PTRH2
0.100
CausalMutation
disease
CLINVAR
Clathrin: a unique protein associated with intracellular transfer of membrane by coated vesicles.
1063406
1976
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.100
CausalMutation
disease
CLINVAR
Multiple lentigines syndrome. Case report and review of the literature.
1258892
1976
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.100
GeneticVariation
disease
CLINVAR
Multiple lentigines syndrome. Case report and review of the literature.
1258892
1976
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
0.100
CausalMutation
disease
CLINVAR
Primary structure, chromosomal localization, and functional expression of a voltage-gated sodium channel from human brain.
1325650
1992
×
Entrez Id:
6326
Gene Symbol:
SCN2A
SCN2A
0.100
GeneticVariation
disease
CLINVAR
Primary structure, chromosomal localization, and functional expression of a voltage-gated sodium channel from human brain.
1325650
1992
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
0.100
CausalMutation
disease
CLINVAR
A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.
1349199
1992
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.100
CausalMutation
disease
CLINVAR
Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes.
1372469
1992
×
Entrez Id:
6509
Gene Symbol:
SLC1A4
SLC1A4
0.100
CausalMutation
disease
CLINVAR
Calmodulin and protein kinase C cross-talk: the MARCKS protein is an actin filament and plasma membrane cross-linking protein regulated by protein kinase C phosphorylation and by calmodulin.
1395931
1992
LINC02245
0.100
CausalMutation
disease
CLINVAR
Calmodulin and protein kinase C cross-talk: the MARCKS protein is an actin filament and plasma membrane cross-linking protein regulated by protein kinase C phosphorylation and by calmodulin.
1395931
1992
×
Entrez Id:
546
Gene Symbol:
ATRX
ATRX
0.100
CausalMutation
disease
CLINVAR
X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.
1415255
1992
×
Entrez Id:
546
Gene Symbol:
ATRX
ATRX
0.100
GeneticVariation
disease
CLINVAR
X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.
1415255
1992
×
Entrez Id:
1788
Gene Symbol:
DNMT3A
DNMT3A
0.100
CausalMutation
disease
CLINVAR
A targeting sequence directs DNA methyltransferase to sites of DNA replication in mammalian nuclei.
1423634
1992
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.100
CausalMutation
disease
CLINVAR
Beare-Stevenson cutis gyrata syndrome.
1519658
1992