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: |
1277 |
Gene Symbol: |
COL1A1 |
COL1A1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Infantile cortical hyperostosis; a review of the clinical and radiographic features.
|
13431894 |
1957 |
Entrez Id: |
84295 |
Gene Symbol: |
PHF6 |
PHF6
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder.
|
13871358 |
1962 |
Entrez Id: |
10084 |
Gene Symbol: |
PQBP1 |
PQBP1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Familial sex-linked mental retardation.
|
13981686 |
1962 |
Entrez Id: |
1387 |
Gene Symbol: |
CREBBP |
CREBBP
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome.
|
13983033 |
1963 |
Entrez Id: |
1387 |
Gene Symbol: |
CREBBP |
CREBBP
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome.
|
13983033 |
1963 |
Entrez Id: |
2033 |
Gene Symbol: |
EP300 |
EP300
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome.
|
13983033 |
1963 |
Entrez Id: |
339400 |
Gene Symbol: |
FLG-AS1 |
FLG-AS1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Clinical features of autosomal dominant and sex-linked ichthyosis in an English population.
|
20790920 |
1966 |
Entrez Id: |
2312 |
Gene Symbol: |
FLG |
FLG
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Clinical features of autosomal dominant and sex-linked ichthyosis in an English population.
|
20790920 |
1966 |
Entrez Id: |
4763 |
Gene Symbol: |
NF1 |
NF1
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
Pulmonary stenosis, café-au-lait spots, and dull intelligence.
|
6025371 |
1967 |
Entrez Id: |
23111 |
Gene Symbol: |
SPART |
SPART
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting.
|
6022528 |
1967 |
Entrez Id: |
4210 |
Gene Symbol: |
MEFV |
MEFV
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Familial Mediterranean fever. A survey of 470 cases and review of the literature.
|
5340644 |
1967 |
Entrez Id: |
5781 |
Gene Symbol: |
PTPN11 |
PTPN11
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease.
|
4386970 |
1968 |
Entrez Id: |
673 |
Gene Symbol: |
BRAF |
BRAF
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease.
|
4386970 |
1968 |
Entrez Id: |
673 |
Gene Symbol: |
BRAF |
BRAF
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease.
|
4386970 |
1968 |
Entrez Id: |
5781 |
Gene Symbol: |
PTPN11 |
PTPN11
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease.
|
4386970 |
1968 |
Entrez Id: |
673 |
Gene Symbol: |
BRAF |
BRAF
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Multiple lentigenes syndrome.
|
5771505 |
1969 |
Entrez Id: |
673 |
Gene Symbol: |
BRAF |
BRAF
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Multiple lentigenes syndrome.
|
5771505 |
1969 |