|
| Entrez Id: |
2245 |
| Gene Symbol: |
FGD1 |
FGD1
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
|
|
|
|
| Entrez Id: |
8828 |
| Gene Symbol: |
NRP2 |
NRP2
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
|
|
|
|
| Entrez Id: |
54880 |
| Gene Symbol: |
BCOR |
BCOR
|
0.100 |
CausalMutation
|
group |
CLINVAR |
|
|
|
|
| Entrez Id: |
4528 |
| Gene Symbol: |
MTIF2 |
MTIF2
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
|
|
|
|
| Entrez Id: |
6605 |
| Gene Symbol: |
SMARCE1 |
SMARCE1
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
|
|
|
|
| Entrez Id: |
4709 |
| Gene Symbol: |
NDUFB3 |
NDUFB3
|
0.100 |
CausalMutation
|
group |
CLINVAR |
|
|
|
|
| Entrez Id: |
26053 |
| Gene Symbol: |
AUTS2 |
AUTS2
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
|
|
|
|
| Entrez Id: |
3516 |
| Gene Symbol: |
RBPJ |
RBPJ
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
|
|
|
|
| Entrez Id: |
1278 |
| Gene Symbol: |
COL1A2 |
COL1A2
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Genetic heterogeneity in osteogenesis imperfecta.
|
458828 |
1979 |
|
| Entrez Id: |
1302 |
| Gene Symbol: |
COL11A2 |
COL11A2
|
0.100 |
GeneticVariation
|
group |
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 |
CausalMutation
|
group |
CLINVAR |
Parastremmatic dwarfism.
|
956253 |
1976 |
|
| Entrez Id: |
51651 |
| Gene Symbol: |
PTRH2 |
PTRH2
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Clathrin: a unique protein associated with intracellular transfer of membrane by coated vesicles.
|
1063406 |
1976 |
|
| Entrez Id: |
1213 |
| Gene Symbol: |
CLTC |
CLTC
|
0.100 |
CausalMutation
|
group |
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
|
group |
CLINVAR |
Multiple lentigines syndrome. Case report and review of the literature.
|
1258892 |
1976 |
|
| Entrez Id: |
5781 |
| Gene Symbol: |
PTPN11 |
PTPN11
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Multiple lentigines syndrome. Case report and review of the literature.
|
1258892 |
1976 |
|
| Entrez Id: |
546 |
| Gene Symbol: |
ATRX |
ATRX
|
0.100 |
GeneticVariation
|
group |
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 |
CausalMutation
|
group |
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
|
group |
CLINVAR |
A targeting sequence directs DNA methyltransferase to sites of DNA replication in mammalian nuclei.
|
1423634 |
1992 |
|
| Entrez Id: |
2263 |
| Gene Symbol: |
FGFR2 |
FGFR2
|
0.400 |
CausalMutation
|
group |
CLINVAR |
Beare-Stevenson cutis gyrata syndrome.
|
1519658 |
1992 |
|
| Entrez Id: |
2263 |
| Gene Symbol: |
FGFR2 |
FGFR2
|
0.400 |
GeneticVariation
|
group |
CLINVAR |
Beare-Stevenson cutis gyrata syndrome.
|
1519658 |
1992 |
|
| Entrez Id: |
59341 |
| Gene Symbol: |
TRPV4 |
TRPV4
|
0.100 |
CausalMutation
|
group |
CLINVAR |
A large New England kindred with autosomal dominant neurogenic scapuloperoneal amyotrophy with unique features.
|
1520078 |
1992 |
|
| Entrez Id: |
8086 |
| Gene Symbol: |
AAAS |
AAAS
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Familial glucocorticoid deficiency with achalasia of the cardia associated with mixed neuropathy, long-tract degeneration and mild dementia.
|
1537368 |
1992 |
|
| Entrez Id: |
5781 |
| Gene Symbol: |
PTPN11 |
PTPN11
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
A clinical study of Noonan syndrome.
|
1543375 |
1992 |
|
| Entrez Id: |
5781 |
| Gene Symbol: |
PTPN11 |
PTPN11
|
0.100 |
CausalMutation
|
group |
CLINVAR |
A clinical study of Noonan syndrome.
|
1543375 |
1992 |
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Familial paroxysmal ataxia: report of a family.
|
1564484 |
1992 |